BLOC1S6

Predicted funtional terms: GO | ChEA | Mouse Phenotype | Human Phenotype | KEA | KEGG
Most similar genes based on co-expression: Pearson correlation
Expression levels across tissues and cell lines: Tissue Expression | Cell Line Expression





Description: The protein encoded by this gene may play a role in intracellular vesicle trafficking. It interacts with Syntaxin 13 which mediates intracellular membrane fusion. Mutations in this gene cause symptoms associated with Hermansky-Pudlak syndrome-9. Alternative splicing results in multiple transcript variants. A pseudogene related to this gene is located on the X chromosome. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1ribosomal small subunit assembly (GO:0000028)5.44518974
2monoubiquitinated protein deubiquitination (GO:0035520)4.89570228
3interkinetic nuclear migration (GO:0022027)4.88414358
4establishment of protein localization to Golgi (GO:0072600)4.87571019
5negative regulation of translation, ncRNA-mediated (GO:0040033)4.85219128
6regulation of translation, ncRNA-mediated (GO:0045974)4.85219128
7negative regulation of translation involved in gene silencing by miRNA (GO:0035278)4.85219128
8snRNA transcription (GO:0009301)4.80136624
9regulation of establishment of cell polarity (GO:2000114)4.75307660
10DNA deamination (GO:0045006)4.61217568
11phospholipid translocation (GO:0045332)4.28627660
12lipid translocation (GO:0034204)4.28627660
13negative regulation of protein localization to cell surface (GO:2000009)4.21384141
14protein K48-linked deubiquitination (GO:0071108)4.19787953
15cytoplasmic mRNA processing body assembly (GO:0033962)4.19180231
16regulation of establishment or maintenance of cell polarity (GO:0032878)4.16108946
17neural tube formation (GO:0001841)4.08602840
18tryptophan catabolic process (GO:0006569)4.03084519
19indole-containing compound catabolic process (GO:0042436)4.03084519
20indolalkylamine catabolic process (GO:0046218)4.03084519
21antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (G3.95787829
22cellular response to ethanol (GO:0071361)3.95053791
23kynurenine metabolic process (GO:0070189)3.95032822
24response to interferon-beta (GO:0035456)3.89643044
25signal peptide processing (GO:0006465)3.88751856
26cilium or flagellum-dependent cell motility (GO:0001539)3.86863904
27regulation of hippo signaling (GO:0035330)3.85865283
28sequestering of actin monomers (GO:0042989)3.83569268
29protein targeting to vacuole (GO:0006623)3.79683622
30protein targeting to lysosome (GO:0006622)3.79683622
31establishment of protein localization to vacuole (GO:0072666)3.79683622
32negative regulation of sodium ion transport (GO:0010766)3.75414520
33glucocorticoid receptor signaling pathway (GO:0042921)3.68979165
34polyketide metabolic process (GO:0030638)3.63788345
35doxorubicin metabolic process (GO:0044598)3.63788345
36daunorubicin metabolic process (GO:0044597)3.63788345
37indolalkylamine metabolic process (GO:0006586)3.60468841
38oxidative demethylation (GO:0070989)3.60377223
39pericardium development (GO:0060039)3.45909060
40tryptophan metabolic process (GO:0006568)3.45390138
41cellular response to interferon-beta (GO:0035458)3.41213861
42regulation of gene silencing by RNA (GO:0060966)3.39508842
43regulation of posttranscriptional gene silencing (GO:0060147)3.39508842
44regulation of gene silencing by miRNA (GO:0060964)3.39508842
45antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:3.38370809
46negative regulation of systemic arterial blood pressure (GO:0003085)3.35796623
47deoxyribonucleoside monophosphate metabolic process (GO:0009162)3.31423824
48antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)3.30929519
49telomere maintenance via semi-conservative replication (GO:0032201)3.30775193
50cardiovascular system development (GO:0072358)3.30134274
51histone H3-K4 trimethylation (GO:0080182)3.28116278
52flavonoid metabolic process (GO:0009812)3.25408164
53protein K63-linked deubiquitination (GO:0070536)3.23781731
54deoxyribose phosphate biosynthetic process (GO:0046385)3.23212002
552-deoxyribonucleotide biosynthetic process (GO:0009265)3.23212002
56Arp2/3 complex-mediated actin nucleation (GO:0034314)3.16893751
57viral transcription (GO:0019083)3.15670554
58translational termination (GO:0006415)3.15329556
59* endosome to melanosome transport (GO:0035646)3.11881930
60* endosome to pigment granule transport (GO:0043485)3.11881930
61nucleus localization (GO:0051647)3.10475842
62pyrimidine deoxyribonucleotide metabolic process (GO:0009219)3.09649066
63protein K11-linked deubiquitination (GO:0035871)3.06119055
64negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)3.06028861
65antigen processing and presentation of endogenous peptide antigen (GO:0002483)3.04574162
66antigen processing and presentation of endogenous peptide antigen via MHC class I (GO:0019885)3.04574162
67corticosteroid receptor signaling pathway (GO:0031958)3.02453535
68endocardial cushion development (GO:0003197)3.02420928
69maturation of SSU-rRNA (GO:0030490)3.02241606
70purine-containing compound salvage (GO:0043101)3.01965892
71type I interferon signaling pathway (GO:0060337)3.00522769
72cellular response to type I interferon (GO:0071357)3.00522769
73retrograde transport, vesicle recycling within Golgi (GO:0000301)2.99727139
74epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)2.98575656
75DNA strand elongation involved in DNA replication (GO:0006271)2.98221629
76regulation of sarcomere organization (GO:0060297)2.97605730
77protein targeting to Golgi (GO:0000042)2.97438443
78proteasome assembly (GO:0043248)2.94175095
79fucose catabolic process (GO:0019317)2.93482109
80L-fucose metabolic process (GO:0042354)2.93482109
81L-fucose catabolic process (GO:0042355)2.93482109
82microtubule anchoring (GO:0034453)2.93184805
83deoxyribonucleotide biosynthetic process (GO:0009263)2.92862316
84behavioral response to nicotine (GO:0035095)2.92726826
85translational elongation (GO:0006414)2.92632602
86response to interferon-alpha (GO:0035455)2.92490593
87response to type I interferon (GO:0034340)2.92455162
88immunoglobulin mediated immune response (GO:0016064)2.92252821
89DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:002.92066318
90cytochrome complex assembly (GO:0017004)2.91647446
91phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)2.89840634
92platelet dense granule organization (GO:0060155)2.88197262
93protein deneddylation (GO:0000338)2.87805740
94SRP-dependent cotranslational protein targeting to membrane (GO:0006614)2.87086314
95telomere maintenance via recombination (GO:0000722)2.85425627
96sulfation (GO:0051923)2.83707290
97DNA strand elongation (GO:0022616)2.83522761
98negative regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030948)2.82657145
99peptidyl-lysine methylation (GO:0018022)2.82430982
100signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431)2.82407279
101intracellular signal transduction involved in G1 DNA damage checkpoint (GO:1902400)2.82407279
102B cell mediated immunity (GO:0019724)2.80910002
103thyroid hormone metabolic process (GO:0042403)2.79620273
104cell morphogenesis involved in neuron differentiation (GO:0048667)2.79513666
105signal transduction involved in mitotic cell cycle checkpoint (GO:0072413)2.79397120
106signal transduction involved in mitotic DNA integrity checkpoint (GO:1902403)2.79397120
107signal transduction involved in mitotic DNA damage checkpoint (GO:1902402)2.79397120
108positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)2.78493618
109cotranslational protein targeting to membrane (GO:0006613)2.78038457
110regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)2.77654466
111regulation of short-term neuronal synaptic plasticity (GO:0048172)2.76328916
112photoreceptor cell maintenance (GO:0045494)2.75483946
113regulation of cellular amino acid metabolic process (GO:0006521)2.73161756
114protein targeting to ER (GO:0045047)2.72189092
115pseudouridine synthesis (GO:0001522)2.71852534
116negative regulation of viral genome replication (GO:0045071)2.70968061
117respiratory chain complex IV assembly (GO:0008535)2.70466770
118reflex (GO:0060004)2.70462802
119cellular response to sterol (GO:0036315)2.70457853
120antigen processing and presentation of endogenous antigen (GO:0019883)2.70437296
121antigen processing and presentation via MHC class Ib (GO:0002475)2.70171155
122histone H3-K9 methylation (GO:0051567)2.68615371
123cullin deneddylation (GO:0010388)2.67438537
124detection of light stimulus involved in visual perception (GO:0050908)2.67050153
125detection of light stimulus involved in sensory perception (GO:0050962)2.67050153
126negative regulation of phagocytosis (GO:0050765)2.66480935
127cellular response to zinc ion (GO:0071294)2.66189968
128defense response to protozoan (GO:0042832)2.66033874
129indole-containing compound metabolic process (GO:0042430)2.65809443
130signal transduction involved in cell cycle checkpoint (GO:0072395)2.64060773
131signal transduction involved in DNA damage checkpoint (GO:0072422)2.63258078
132signal transduction involved in DNA integrity checkpoint (GO:0072401)2.63258078
133formation of translation preinitiation complex (GO:0001731)2.62302333
134negative regulation of cytosolic calcium ion concentration (GO:0051481)2.62067394
135protein localization to endoplasmic reticulum (GO:0070972)2.62017748
136negative regulation of ligase activity (GO:0051352)2.60574198
137negative regulation of ubiquitin-protein transferase activity (GO:0051444)2.60574198
138appendage development (GO:0048736)2.60277321
139limb development (GO:0060173)2.60277321
140central nervous system neuron axonogenesis (GO:0021955)2.60238918
141regulation of antigen processing and presentation of peptide antigen (GO:0002583)2.58902034
142nucleobase-containing small molecule interconversion (GO:0015949)2.58805882
143anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:02.58169607
144antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)2.57997148
145protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)2.56970128
146negative regulation of myeloid cell apoptotic process (GO:0033033)2.56834966
147mitotic recombination (GO:0006312)2.56749453
148NAD biosynthetic process (GO:0009435)2.56152099
149kinetochore organization (GO:0051383)2.55673083
150cerebellar Purkinje cell differentiation (GO:0021702)2.55622009
151detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)2.54675577
152establishment of protein localization to endoplasmic reticulum (GO:0072599)2.54529941
153UDP-N-acetylglucosamine metabolic process (GO:0006047)2.54345072
154negative regulation of keratinocyte proliferation (GO:0010839)2.54284067
155reactive oxygen species biosynthetic process (GO:1903409)2.54182135
156response to immune response of other organism involved in symbiotic interaction (GO:0052564)2.53735569
157response to host immune response (GO:0052572)2.53735569
158viral life cycle (GO:0019058)2.52447961
159telomere maintenance via telomere lengthening (GO:0010833)2.52426339
160positive regulation by symbiont of host defense response (GO:0052509)2.51844015
161modulation by symbiont of host defense response (GO:0052031)2.51844015
162modulation by organism of immune response of other organism involved in symbiotic interaction (GO:002.51844015
163modulation by organism of defense response of other organism involved in symbiotic interaction (GO:02.51844015
164positive regulation by organism of defense response of other organism involved in symbiotic interact2.51844015
165modulation by symbiont of host immune response (GO:0052553)2.51844015
166regulation of B cell receptor signaling pathway (GO:0050855)2.50093880
167peptidyl-lysine trimethylation (GO:0018023)2.49033387
168cellular protein complex disassembly (GO:0043624)2.48788231
169kinetochore assembly (GO:0051382)2.47925647
170serotonin metabolic process (GO:0042428)2.47631944
171response to peptidoglycan (GO:0032494)2.46570937
172negative regulation of neurotransmitter transport (GO:0051589)2.46418013
173ribosomal small subunit biogenesis (GO:0042274)2.46230996
174ribosomal large subunit biogenesis (GO:0042273)2.45042988
175transcription elongation from RNA polymerase III promoter (GO:0006385)2.44610196
176termination of RNA polymerase III transcription (GO:0006386)2.44610196
177translational initiation (GO:0006413)2.44489634
178interferon-gamma-mediated signaling pathway (GO:0060333)2.44269835
179translation (GO:0006412)2.43918006
180striated muscle atrophy (GO:0014891)2.43606674
181positive regulation of antigen receptor-mediated signaling pathway (GO:0050857)2.42544321
182negative regulation of neurotransmitter secretion (GO:0046929)2.42283113
183cilium organization (GO:0044782)2.40579475
184protein localization to Golgi apparatus (GO:0034067)2.40096516
185gamma-aminobutyric acid transport (GO:0015812)2.39507752
186cilium assembly (GO:0042384)2.39061343
187protein localization to lysosome (GO:0061462)2.37962634
188protein localization to vacuole (GO:0072665)2.37962634
189neuronal action potential (GO:0019228)2.37310912
190negative regulation of mast cell activation (GO:0033004)2.37106907
191histone lysine methylation (GO:0034968)2.36044048
192regulation of respiratory system process (GO:0044065)2.34642454
193regulation of membrane lipid distribution (GO:0097035)2.32675170
194replicative senescence (GO:0090399)2.30150825
195positive regulation of CREB transcription factor activity (GO:0032793)2.30113135
196cilium morphogenesis (GO:0060271)2.30015259
197regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060211)2.29808508
198positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)2.29808508
199primary amino compound metabolic process (GO:1901160)2.29375128
200histone-serine phosphorylation (GO:0035404)2.28940146

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1E2F7_22180533_ChIP-Seq_HELA_Human4.26112663
2IRF8_22096565_ChIP-ChIP_GC-B_Human3.99416184
3ELF1_17652178_ChIP-ChIP_JURKAT_Human3.70762766
4EKLF_21900194_ChIP-Seq_ERYTHROCYTE_Mouse3.67684905
5IRF8_22096565_ChIP-ChIP_GC-B_Mouse3.56445376
6GABP_17652178_ChIP-ChIP_JURKAT_Human3.34903155
7GBX2_23144817_ChIP-Seq_PC3_Human3.31455828
8IRF8_21731497_ChIP-ChIP_J774_Mouse3.25899480
9KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human3.18678135
10MYC_18555785_ChIP-Seq_MESCs_Mouse3.18237879
11CEBPD_23245923_ChIP-Seq_MEFs_Mouse2.99004678
12JARID1A_20064375_ChIP-Seq_MESCs_Mouse2.96614451
13GLI1_17442700_ChIP-ChIP_MESCs_Mouse2.95945074
14EST1_17652178_ChIP-ChIP_JURKAT_Human2.92329711
15GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse2.86920754
16SPI1_22790984_ChIP-Seq_ERYTHROLEUKEMIA_Mouse2.83460781
17NOTCH1_17114293_ChIP-ChIP_T-ALL_Human2.74185291
18SPI1_22096565_ChIP-ChIP_GC-B_Mouse2.72320218
19FLI1_20887958_ChIP-Seq_HPC-7_Mouse2.67611789
20POU3F2_20337985_ChIP-ChIP_501MEL_Human2.60598354
21TAF15_26573619_Chip-Seq_HEK293_Human2.52504021
22ZFP57_27257070_Chip-Seq_ESCs_Mouse2.51562177
23HOXB4_20404135_ChIP-ChIP_EML_Mouse2.46721870
24ETS1_20019798_ChIP-Seq_JURKAT_Human2.46378010
25VDR_22108803_ChIP-Seq_LS180_Human2.44644478
26SMARCD1_25818293_ChIP-Seq_ESCs_Mouse2.41817277
27VDR_23849224_ChIP-Seq_CD4+_Human2.41408629
28HCFC1_20581084_ChIP-Seq_MESCs_Mouse2.40433093
29MYC_18358816_ChIP-ChIP_MESCs_Mouse2.37523871
30ZNF274_21170338_ChIP-Seq_K562_Hela2.36663424
31IRF1_21803131_ChIP-Seq_MONOCYTES_Human2.32755899
32AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human2.32715238
33SALL1_21062744_ChIP-ChIP_HESCs_Human2.32679862
34MECOM_23826213_ChIP-Seq_KASUMI_Mouse2.31593424
35DCP1A_22483619_ChIP-Seq_HELA_Human2.27432424
36TAL1_20887958_ChIP-Seq_HPC-7_Mouse2.27035227
37SRF_21415370_ChIP-Seq_HL-1_Mouse2.19350453
38CTBP2_25329375_ChIP-Seq_LNCAP_Human2.15245437
39IGF1R_20145208_ChIP-Seq_DFB_Human2.14568730
40HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse2.13398706
41CREB1_15753290_ChIP-ChIP_HEK293T_Human2.13392859
42FOXO3_22982991_ChIP-Seq_MACROPHAGES_Mouse2.13216379
43HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human2.12979641
44PIAS1_25552417_ChIP-Seq_VCAP_Human2.11374556
45MYC_19030024_ChIP-ChIP_MESCs_Mouse2.09819759
46FOXP3_21729870_ChIP-Seq_TREG_Human2.07388687
47E2F4_17652178_ChIP-ChIP_JURKAT_Human2.04870704
48STAT3_23295773_ChIP-Seq_U87_Human2.03466535
49TP53_16413492_ChIP-PET_HCT116_Human2.01675612
50EWS_26573619_Chip-Seq_HEK293_Human2.01620829
51STAT4_19710469_ChIP-ChIP_TH1__Mouse2.01400512
52EZH2_22144423_ChIP-Seq_EOC_Human2.01114338
53* SPI1_23547873_ChIP-Seq_NB4_Human1.99256799
54E2F1_18555785_ChIP-Seq_MESCs_Mouse1.98236467
55ELK1_19687146_ChIP-ChIP_HELA_Human1.97143347
56ASXL1_24218140_ChIP-Seq_BMDM_Mouse1.96844889
57P300_19829295_ChIP-Seq_ESCs_Human1.95640055
58FUS_26573619_Chip-Seq_HEK293_Human1.95002247
59AR_21572438_ChIP-Seq_LNCaP_Human1.94864317
60ERG_20887958_ChIP-Seq_HPC-7_Mouse1.93943618
61NELFA_20434984_ChIP-Seq_ESCs_Mouse1.93393729
62SMAD4_21799915_ChIP-Seq_A2780_Human1.91695604
63SFPI1_20887958_ChIP-Seq_HPC-7_Mouse1.91598057
64EGR1_19374776_ChIP-ChIP_THP-1_Human1.89965028
65ER_23166858_ChIP-Seq_MCF-7_Human1.88881363
66SOX9_22984422_ChIP-ChIP_TESTIS_Rat1.88282652
67PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.88055436
68FLI1_27457419_Chip-Seq_LIVER_Mouse1.86923118
69PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse1.86130966
70XRN2_22483619_ChIP-Seq_HELA_Human1.85220849
71RUNX1_20887958_ChIP-Seq_HPC-7_Mouse1.84288413
72ZFP322A_24550733_ChIP-Seq_MESCs_Mouse1.82657733
73YY1_21170310_ChIP-Seq_MESCs_Mouse1.79121798
74ZNF217_24962896_ChIP-Seq_MCF-7_Human1.76148484
75FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human1.75588542
76GFI1B_20887958_ChIP-Seq_HPC-7_Mouse1.74790253
77MYB_21317192_ChIP-Seq_ERMYB_Mouse1.74575673
78TCF4_23295773_ChIP-Seq_U87_Human1.74158062
79E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse1.72093678
80THAP11_20581084_ChIP-Seq_MESCs_Mouse1.72044715
81MYC_19079543_ChIP-ChIP_MESCs_Mouse1.71854935
82CHD1_19587682_ChIP-ChIP_MESCs_Mouse1.71426548
83NR3C1_21868756_ChIP-Seq_MCF10A_Human1.70640071
84SMAD_19615063_ChIP-ChIP_OVARY_Human1.70501563
85CTBP1_25329375_ChIP-Seq_LNCAP_Human1.68218493
86BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse1.68055635
87GABP_19822575_ChIP-Seq_HepG2_Human1.68035221
88AHR_22903824_ChIP-Seq_MCF-7_Human1.65520927
89NOTCH1_21737748_ChIP-Seq_TLL_Human1.65301263
90MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse1.62684716
91UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human1.62678239
92PDX1_19855005_ChIP-ChIP_MIN6_Mouse1.62381415
93TTF2_22483619_ChIP-Seq_HELA_Human1.60282585
94RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.60064207
95TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.59784529
96POU5F1_26923725_Chip-Seq_MESODERM_Mouse1.59784529
97CDX2_19796622_ChIP-Seq_MESCs_Mouse1.58044952
98ARNT_22903824_ChIP-Seq_MCF-7_Human1.55883826
99SMAD3_21741376_ChIP-Seq_EPCs_Human1.55881947
100PCGF2_27294783_Chip-Seq_ESCs_Mouse1.55702282
101MYCN_21190229_ChIP-Seq_SHEP-21N_Human1.54465766
102TEAD4_22529382_ChIP-Seq_TROPHECTODERM_Mouse1.54325569
103SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.51658902
104AR_25329375_ChIP-Seq_VCAP_Human1.48709674
105CBP_20019798_ChIP-Seq_JUKART_Human1.47473242
106IRF4_20064451_ChIP-Seq_CD4+T_Mouse1.47473242
107FOXP3_17237761_ChIP-ChIP_TREG_Mouse1.45968930
108IRF8_27001747_Chip-Seq_BMDM_Mouse1.45624157
109CEBPB_24764292_ChIP-Seq_MC3T3_Mouse1.45451819
110BCAT_22108803_ChIP-Seq_LS180_Human1.45019123
111SMRT_22465074_ChIP-Seq_MACROPHAGES_Mouse1.44038765
112OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.41933391
113PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse1.41025980
114NCOR_22465074_ChIP-Seq_MACROPHAGES_Mouse1.40712721
115PCGF2_27294783_Chip-Seq_NPCs_Mouse1.39780945
116SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.39503322
117SCL_19346495_ChIP-Seq_HPC-7_Human1.39297499
118MYB_26560356_Chip-Seq_TH2_Human1.38220028
119MEIS1_20887958_ChIP-Seq_HPC-7_Mouse1.37536632
120TOP2B_26459242_ChIP-Seq_MCF-7_Human1.37428067
121CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human1.35656721
122CIITA_25753668_ChIP-Seq_RAJI_Human1.35401394
123TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse1.34126647
124DROSHA_22980978_ChIP-Seq_HELA_Human1.33888535
125LYL1_20887958_ChIP-Seq_HPC-7_Mouse1.31231382
126ZFP42_18358816_ChIP-ChIP_MESCs_Mouse1.31183632
127PRDM14_20953172_ChIP-Seq_ESCs_Human1.30002005
128SUZ12_27294783_Chip-Seq_NPCs_Mouse1.29194347
129FOXM1_26456572_ChIP-Seq_MCF-7_Human1.29169545
130MYC_18940864_ChIP-ChIP_HL60_Human1.29027291
131BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human1.28362489
132RUNX2_22187159_ChIP-Seq_PCA_Human1.28289980
133TCF4_22108803_ChIP-Seq_LS180_Human1.28007821
134FLI1_21867929_ChIP-Seq_TH2_Mouse1.25216117
135SOX2_21211035_ChIP-Seq_LN229_Gbm1.25005843
136CDX2_21402776_ChIP-Seq_INTESTINAL-VILLUS_Mouse1.23777310
137ZFX_18555785_ChIP-Seq_MESCs_Mouse1.23302548
138LMO2_20887958_ChIP-Seq_HPC-7_Mouse1.22228429
139MYCN_18555785_ChIP-Seq_MESCs_Mouse1.22066719
140CTNNB1_20460455_ChIP-Seq_HCT116_Human1.21910616
141EZH2_27294783_Chip-Seq_NPCs_Mouse1.21697168
142CEBPB_26923725_Chip-Seq_MESODERM_Mouse1.21453463
143NFE2L2_20460467_ChIP-Seq_MEFs_Mouse1.21233969
144NRF2_20460467_ChIP-Seq_MEFs_Mouse1.21233969
145RXR_22108803_ChIP-Seq_LS180_Human1.20718467
146E2F1_21310950_ChIP-Seq_MCF-7_Human1.20533859
147RBPJ_22232070_ChIP-Seq_NCS_Mouse1.20358176
148KDM2B_26808549_Chip-Seq_REH_Human1.20054375
149NANOG_18555785_Chip-Seq_ESCs_Mouse1.19837738
150RUNX1_22412390_ChIP-Seq_EML_Mouse1.18666441
151MYC_22102868_ChIP-Seq_BL_Human1.18040867
152YY1_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.16830615
153EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse1.16493030
154TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.16470981
155TFEB_21752829_ChIP-Seq_HELA_Human1.15660898
156GATA2_22383799_ChIP-Seq_G1ME_Mouse1.15518962
157VDR_21846776_ChIP-Seq_THP-1_Human1.14002079
158MYBL2_22936984_ChIP-ChIP_MESCs_Mouse1.11523042
159NFE2_27457419_Chip-Seq_LIVER_Mouse1.10204414
160STAT3_20064451_ChIP-Seq_CD4+T_Mouse1.09461155
161SMAD4_21741376_ChIP-Seq_EPCs_Human1.09349253
162ESR1_20079471_ChIP-ChIP_T-47D_Human1.09094134
163TAL1_21186366_ChIP-Seq_BM-HSCs_Mouse1.08615835
164E2F1_18555785_Chip-Seq_ESCs_Mouse1.08429861
165KLF5_20875108_ChIP-Seq_MESCs_Mouse1.07038557
166AR_19668381_ChIP-Seq_PC3_Human1.06974007
167FOXA1_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human1.06449667
168EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human1.05565082
169P53_22387025_ChIP-Seq_ESCs_Mouse1.05438296
170MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse1.05338115
171CJUN_26792858_Chip-Seq_BT549_Human1.05299961
172CUX1_19635798_ChIP-ChIP_MULTIPLE_HUMAN_CANCER_TYPES_Human1.04607117
173MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human1.04098476
174SMAD3_21741376_ChIP-Seq_HESCs_Human1.03644406
175TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human1.03446010
176TP53_18474530_ChIP-ChIP_U2OS_Human1.02783353
177STAT6_20620947_ChIP-Seq_CD4_POS_T_Human1.02432094
178CCND1_20090754_ChIP-ChIP_RETINA_Mouse1.02231762
179STAT3_24763339_ChIP-Seq_IMN-ESCs_Mouse1.02228803
180MYB_26560356_Chip-Seq_TH1_Human1.01752307
181ERA_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human1.01677786
182MAF_26560356_Chip-Seq_TH1_Human1.01321944
183CEBPD_21427703_ChIP-Seq_3T3-L1_Mouse1.01122445
184CDX2_22108803_ChIP-Seq_LS180_Human1.00624711
185CBX2_27304074_Chip-Seq_ESCs_Mouse1.00235896
186TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse0.99954057
187BCL3_23251550_ChIP-Seq_MUSCLE_Mouse0.99588915
188VDR_24763502_ChIP-Seq_THP-1_Human0.99467763
189OCT4_21477851_ChIP-Seq_ESCs_Mouse0.98859717
190ESR1_22446102_ChIP-Seq_UTERUS_Mouse0.98669854
191CRX_20693478_ChIP-Seq_RETINA_Mouse0.98040139
192EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human0.97987042
193TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat0.97331070
194POU5F1_18555785_ChIP-Seq_MESCs_Mouse0.96355637
195ELK1_22589737_ChIP-Seq_MCF10A_Human0.94959411
196BRD4_27068464_Chip-Seq_AML-cells_Mouse0.94082024
197CEBPB_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse0.92992256
198GATA1_22383799_ChIP-Seq_G1ME_Mouse0.91825176
199PADI4_21655091_ChIP-ChIP_MCF-7_Human0.87172767
200FLI1_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.86547803

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0000569_abnormal_digit_pigmentation6.07458245
2MP0001835_abnormal_antigen_presentation4.09630926
3MP0003195_calcinosis3.57960463
4MP0009785_altered_susceptibility_to3.56629393
5MP0004043_abnormal_pH_regulation2.98949367
6MP0003724_increased_susceptibility_to2.96864556
7MP0002148_abnormal_hypersensitivity_rea2.83465034
8MP0008961_abnormal_basal_metabolism2.77142009
9MP0003436_decreased_susceptibility_to2.75431729
10MP0005671_abnormal_response_to2.73427810
11MP0003890_abnormal_embryonic-extraembry2.60906595
12MP0000427_abnormal_hair_cycle2.53859627
13MP0000383_abnormal_hair_follicle2.52140838
14MP0009046_muscle_twitch2.51762091
15MP0005025_abnormal_response_to2.45015147
16MP0005174_abnormal_tail_pigmentation2.44708694
17MP0002396_abnormal_hematopoietic_system2.35987413
18MP0002009_preneoplasia2.26745112
19MP0002452_abnormal_antigen_presenting2.24464489
20MP0000685_abnormal_immune_system2.23883648
21MP0005000_abnormal_immune_tolerance2.18749769
22MP0002419_abnormal_innate_immunity2.17964048
23MP0008058_abnormal_DNA_repair2.16017445
24MP0003693_abnormal_embryo_hatching2.14317085
25MP0000015_abnormal_ear_pigmentation2.11601909
26MP0001800_abnormal_humoral_immune2.11454195
27MP0001819_abnormal_immune_cell2.10021549
28MP0002420_abnormal_adaptive_immunity2.08305014
29MP0009379_abnormal_foot_pigmentation2.05208388
30MP0004147_increased_porphyrin_level2.03080364
31MP0001545_abnormal_hematopoietic_system2.00372206
32MP0005397_hematopoietic_system_phenotyp2.00372206
33MP0002398_abnormal_bone_marrow1.99718960
34MP0002723_abnormal_immune_serum1.94297145
35MP0005387_immune_system_phenotype1.90981716
36MP0001790_abnormal_immune_system1.90981716
37MP0003787_abnormal_imprinting1.86910186
38MP0004130_abnormal_muscle_cell1.85198679
39MP0005551_abnormal_eye_electrophysiolog1.83255615
40MP0006292_abnormal_olfactory_placode1.82909057
41MP0003186_abnormal_redox_activity1.82016881
42MP0001501_abnormal_sleep_pattern1.80795623
43MP0003045_fibrosis1.79044425
44MP0001853_heart_inflammation1.77866204
45MP0004510_myositis1.77417827
46MP0000716_abnormal_immune_system1.76253343
47MP0000858_altered_metastatic_potential1.67641966
48MP0001968_abnormal_touch/_nociception1.66156103
49MP0010094_abnormal_chromosome_stability1.64829297
50MP0002429_abnormal_blood_cell1.63050912
51MP0000689_abnormal_spleen_morphology1.60903358
52MP0005075_abnormal_melanosome_morpholog1.60004576
53MP0003763_abnormal_thymus_physiology1.59912481
54MP0000490_abnormal_crypts_of1.56798714
55MP0005464_abnormal_platelet_physiology1.56768164
56MP0003077_abnormal_cell_cycle1.56245633
57MP0002277_abnormal_respiratory_mucosa1.54434783
58MP0010678_abnormal_skin_adnexa1.54397384
59MP0008007_abnormal_cellular_replicative1.54172924
60MP0002405_respiratory_system_inflammati1.53304703
61MP0009333_abnormal_splenocyte_physiolog1.53111659
62MP0004924_abnormal_behavior1.53029544
63MP0005386_behavior/neurological_phenoty1.53029544
64MP0004142_abnormal_muscle_tone1.52793477
65MP0002095_abnormal_skin_pigmentation1.52409310
66MP0002722_abnormal_immune_system1.50683990
67MP0003646_muscle_fatigue1.47356779
68MP0002166_altered_tumor_susceptibility1.47320459
69MP0000372_irregular_coat_pigmentation1.43827274
70MP0003136_yellow_coat_color1.42064485
71MP0000343_altered_response_to1.41666396
72MP0006082_CNS_inflammation1.41504358
73MP0002735_abnormal_chemical_nociception1.40705658
74MP0005266_abnormal_metabolism1.40688068
75MP0001845_abnormal_inflammatory_respons1.40221140
76MP0004808_abnormal_hematopoietic_stem1.39175906
77MP0010155_abnormal_intestine_physiology1.38136719
78MP0001188_hyperpigmentation1.37801880
79MP0000681_abnormal_thyroid_gland1.36139031
80MP0004957_abnormal_blastocyst_morpholog1.35927010
81MP0005187_abnormal_penis_morphology1.35171757
82MP0009745_abnormal_behavioral_response1.34455184
83MP0001486_abnormal_startle_reflex1.34291491
84MP0003172_abnormal_lysosome_physiology1.32728858
85MP0005084_abnormal_gallbladder_morpholo1.32680088
86MP0002928_abnormal_bile_duct1.31861346
87MP0003111_abnormal_nucleus_morphology1.30476786
88MP0002168_other_aberrant_phenotype1.30407093
89MP0009764_decreased_sensitivity_to1.29703876
90MP0008877_abnormal_DNA_methylation1.28792320
91MP0005253_abnormal_eye_physiology1.27890771
92MP0002006_tumorigenesis1.27797631
93MP0003786_premature_aging1.25914142
94MP0002067_abnormal_sensory_capabilities1.24424764
95MP0002736_abnormal_nociception_after1.24177108
96MP0002837_dystrophic_cardiac_calcinosis1.24175387
97MP0005646_abnormal_pituitary_gland1.22991116
98MP0005645_abnormal_hypothalamus_physiol1.22578958
99MP0003315_abnormal_perineum_morphology1.20633275
100MP0009115_abnormal_fat_cell1.19182486
101MP0006036_abnormal_mitochondrial_physio1.18349840
102MP0000703_abnormal_thymus_morphology1.17765757
103MP0005310_abnormal_salivary_gland1.17220336
104MP0002638_abnormal_pupillary_reflex1.16832470
105MP0003828_pulmonary_edema1.15962976
106MP0008469_abnormal_protein_level1.15679588
107MP0002064_seizures1.15676182
108MP0001533_abnormal_skeleton_physiology1.15462854
109MP0003656_abnormal_erythrocyte_physiolo1.15069554
110MP0005171_absent_coat_pigmentation1.14570452
111MP0003252_abnormal_bile_duct1.13626830
112MP0003123_paternal_imprinting1.11330364
113MP0000538_abnormal_urinary_bladder1.11131140
114MP0003183_abnormal_peptide_metabolism1.11049311
115MP0000778_abnormal_nervous_system1.10610514
116MP0003937_abnormal_limbs/digits/tail_de1.09393836
117MP0002572_abnormal_emotion/affect_behav1.07221901
118MP0000631_abnormal_neuroendocrine_gland1.04463250
119MP0002132_abnormal_respiratory_system1.02694311
120MP0002933_joint_inflammation1.02623677
121MP0002557_abnormal_social/conspecific_i1.00915201
122MP0002938_white_spotting1.00886479
123MP0002272_abnormal_nervous_system1.00511472
124MP0003635_abnormal_synaptic_transmissio1.00251711
125MP0004145_abnormal_muscle_electrophysio1.00247563
126MP0003567_abnormal_fetal_cardiomyocyte0.99317164
127MP0003632_abnormal_nervous_system0.99009581
128MP0002063_abnormal_learning/memory/cond0.98967923
129MP0003303_peritoneal_inflammation0.98918106
130MP0002332_abnormal_exercise_endurance0.97925822
131MP0004215_abnormal_myocardial_fiber0.97866071
132MP0002019_abnormal_tumor_incidence0.96631305
133MP0000371_diluted_coat_color0.95148318
134MP0010386_abnormal_urinary_bladder0.95001465
135MP0000313_abnormal_cell_death0.94214977
136MP0001485_abnormal_pinna_reflex0.93581301
137MP0006276_abnormal_autonomic_nervous0.92056584
138MP0005448_abnormal_energy_balance0.91335874
139MP0001984_abnormal_olfaction0.91109413
140MP0000465_gastrointestinal_hemorrhage0.91045761
141MP0001873_stomach_inflammation0.90675584
142MP0002876_abnormal_thyroid_physiology0.89268335
143MP0001324_abnormal_eye_pigmentation0.87915544
144MP0001986_abnormal_taste_sensitivity0.87818163
145MP0003950_abnormal_plasma_membrane0.87473030
146MP0006035_abnormal_mitochondrial_morpho0.87456001
147MP0003221_abnormal_cardiomyocyte_apopto0.85889755
148MP0001970_abnormal_pain_threshold0.85662260
149MP0008789_abnormal_olfactory_epithelium0.85613673
150MP0003633_abnormal_nervous_system0.84637316
151MP0005367_renal/urinary_system_phenotyp0.84515284
152MP0000516_abnormal_urinary_system0.84515284
153MP0000647_abnormal_sebaceous_gland0.84410288
154MP0002733_abnormal_thermal_nociception0.83947592
155MP0003631_nervous_system_phenotype0.82087813
156MP0004133_heterotaxia0.81681746
157MP0001186_pigmentation_phenotype0.81450146
158MP0003448_altered_tumor_morphology0.80595517
159MP0000230_abnormal_systemic_arterial0.79668628
160MP0006054_spinal_hemorrhage0.79446008
161MP0003943_abnormal_hepatobiliary_system0.78638808
162MP0002075_abnormal_coat/hair_pigmentati0.78592532
163MP0009278_abnormal_bone_marrow0.78056598
164MP0002102_abnormal_ear_morphology0.76763303
165MP0003119_abnormal_digestive_system0.73491251
166MP0000470_abnormal_stomach_morphology0.73110924
167MP0005395_other_phenotype0.72678318
168MP0008057_abnormal_DNA_replication0.72099205
169MP0002109_abnormal_limb_morphology0.71215205
170MP0000358_abnormal_cell_content/0.70972244
171MP0002882_abnormal_neuron_morphology0.70934681
172MP0002229_neurodegeneration0.70499554
173MP0002751_abnormal_autonomic_nervous0.70161142
174MP0003866_abnormal_defecation0.69989369
175MP0000955_abnormal_spinal_cord0.69728968
176MP0002734_abnormal_mechanical_nocicepti0.68982858
177MP0004381_abnormal_hair_follicle0.68866122
178MP0009697_abnormal_copulation0.68723945
179MP0001879_abnormal_lymphatic_vessel0.68696126
180MP0008872_abnormal_physiological_respon0.68198052
181MP0005647_abnormal_sex_gland0.67387402
182MP0003880_abnormal_central_pattern0.67223273
183MP0002184_abnormal_innervation0.66907843
184MP0005167_abnormal_blood-brain_barrier0.66841104
185MP0004084_abnormal_cardiac_muscle0.64967973
186MP0005195_abnormal_posterior_eye0.64305327
187MP0001299_abnormal_eye_distance/0.64100551
188MP0008775_abnormal_heart_ventricle0.64097253
189MP0000428_abnormal_craniofacial_morphol0.62087133
190MP0004085_abnormal_heartbeat0.61753442

Predicted human phenotypes

RankGene SetZ-score
1Genetic anticipation (HP:0003743)5.81769628
2Hyperventilation (HP:0002883)5.16902325
3Protruding tongue (HP:0010808)4.60479594
4Aplastic anemia (HP:0001915)4.57677341
5Progressive cerebellar ataxia (HP:0002073)4.19032992
6Pancreatic cysts (HP:0001737)4.15578808
7Recurrent abscess formation (HP:0002722)3.84258350
8Thrombocytosis (HP:0001894)3.80009556
9Gaze-evoked nystagmus (HP:0000640)3.79824377
10Elevated erythrocyte sedimentation rate (HP:0003565)3.68160031
11Intracellular accumulation of autofluorescent lipopigment storage material (HP:0003204)3.62065425
12Pancreatic fibrosis (HP:0100732)3.57073859
13Myositis (HP:0100614)3.56805014
14Clumsiness (HP:0002312)3.43024102
15Aplasia/Hypoplasia of the tibia (HP:0005772)3.40379567
16True hermaphroditism (HP:0010459)3.34778120
17Chronic otitis media (HP:0000389)3.33884072
18Fair hair (HP:0002286)3.30078528
19Exertional dyspnea (HP:0002875)3.29305521
20Reticulocytopenia (HP:0001896)3.24709484
21IgM deficiency (HP:0002850)3.23408678
22Recurrent bacterial skin infections (HP:0005406)3.21990070
23Eczematoid dermatitis (HP:0000976)3.17723072
24Type I transferrin isoform profile (HP:0003642)3.16752520
25Chronic hepatic failure (HP:0100626)3.08235856
26Abnormality of the renal cortex (HP:0011035)3.07131657
27Abnormal activity of mitochondrial respiratory chain (HP:0011922)3.05731739
28Decreased activity of mitochondrial respiratory chain (HP:0008972)3.05731739
29Increased hepatocellular lipid droplets (HP:0006565)3.02215077
30IgG deficiency (HP:0004315)3.00539342
31Febrile seizures (HP:0002373)2.95812298
32Dysmetric saccades (HP:0000641)2.94750094
33Decreased activity of cytochrome C oxidase in muscle tissue (HP:0003688)2.92118575
34Increased intramyocellular lipid droplets (HP:0012240)2.84616618
35Cystic liver disease (HP:0006706)2.84287752
36Abnormal number of erythroid precursors (HP:0012131)2.81176826
37Chronic obstructive pulmonary disease (HP:0006510)2.80466973
38Obstructive lung disease (HP:0006536)2.80466973
39Increased serum lactate (HP:0002151)2.77720765
40Mitochondrial inheritance (HP:0001427)2.76833601
41Abnormality of the renal medulla (HP:0100957)2.75839161
42Hypothermia (HP:0002045)2.74824290
43Hypoplastic labia majora (HP:0000059)2.74499940
44Abnormality of alanine metabolism (HP:0010916)2.73822862
45Hyperalaninemia (HP:0003348)2.73822862
46Abnormality of pyruvate family amino acid metabolism (HP:0010915)2.73822862
47Broad-based gait (HP:0002136)2.72796912
48Lipid accumulation in hepatocytes (HP:0006561)2.71895351
49Nephronophthisis (HP:0000090)2.71883964
50Hepatocellular necrosis (HP:0001404)2.70634293
51Petechiae (HP:0000967)2.70449656
52Molar tooth sign on MRI (HP:0002419)2.69973287
53Abnormality of midbrain morphology (HP:0002418)2.69973287
54Abnormality of cells of the erythroid lineage (HP:0012130)2.69372886
55Increased CSF lactate (HP:0002490)2.69290242
56Generalized hypopigmentation of hair (HP:0011358)2.66926459
57Widely spaced teeth (HP:0000687)2.64222127
58Abnormality of macrophages (HP:0004311)2.60495153
59Medial flaring of the eyebrow (HP:0010747)2.58957766
60Abnormality of the labia majora (HP:0012881)2.57672637
61Reduced antithrombin III activity (HP:0001976)2.56889467
62Tubular atrophy (HP:0000092)2.54148689
63Muscle abnormality related to mitochondrial dysfunction (HP:0003800)2.53908624
64Absent speech (HP:0001344)2.53826112
65Patellar aplasia (HP:0006443)2.53788468
66Birth length less than 3rd percentile (HP:0003561)2.53771107
67Hepatic necrosis (HP:0002605)2.53126031
68Respiratory difficulties (HP:0002880)2.51085800
69Increased IgM level (HP:0003496)2.50791998
70Mediastinal lymphadenopathy (HP:0100721)2.50691208
71Increased muscle lipid content (HP:0009058)2.50244691
72Gait imbalance (HP:0002141)2.42192994
73Vacuolated lymphocytes (HP:0001922)2.41214488
74Drooling (HP:0002307)2.40805444
75Attenuation of retinal blood vessels (HP:0007843)2.38037079
76Orchitis (HP:0100796)2.37463190
77Recurrent fungal infections (HP:0002841)2.37277465
78Abnormality of the ischium (HP:0003174)2.37030658
79Congenital primary aphakia (HP:0007707)2.36754999
80Poor coordination (HP:0002370)2.36573986
81Abnormality of T cell physiology (HP:0011840)2.32748655
82Hypoplastic ischia (HP:0003175)2.32592913
83Basal ganglia calcification (HP:0002135)2.30764946
84Renal Fanconi syndrome (HP:0001994)2.30760087
85Abnormal mitochondria in muscle tissue (HP:0008316)2.29528721
86Optic nerve coloboma (HP:0000588)2.29152939
87Abnormality of the anterior horn cell (HP:0006802)2.28712887
88Degeneration of anterior horn cells (HP:0002398)2.28712887
89Abnormal isoelectric focusing of serum transferrin (HP:0003160)2.27718542
90Abnormal protein N-linked glycosylation (HP:0012347)2.27718542
91Abnormal protein glycosylation (HP:0012346)2.27718542
92Abnormal glycosylation (HP:0012345)2.27718542
93Urinary bladder sphincter dysfunction (HP:0002839)2.24880841
94Acute necrotizing encephalopathy (HP:0006965)2.23600642
95Aplasia/Hypoplasia of the patella (HP:0006498)2.22857361
96Type 2 muscle fiber atrophy (HP:0003554)2.22302839
97Preaxial foot polydactyly (HP:0001841)2.22094949
98Increased cerebral lipofuscin (HP:0011813)2.21543566
99Truncal obesity (HP:0001956)2.21153287
100Autoimmune thrombocytopenia (HP:0001973)2.19210976
101Excessive salivation (HP:0003781)2.18184997
102Inability to walk (HP:0002540)2.18134114
103Genital tract atresia (HP:0001827)2.17917118
104Aplasia/Hypoplasia of the tongue (HP:0010295)2.17589757
105Recurrent viral infections (HP:0004429)2.15476302
106Vaginal atresia (HP:0000148)2.14832912
107Pallor (HP:0000980)2.14068610
108Decreased circulating renin level (HP:0003351)2.14038530
109Retrobulbar optic neuritis (HP:0100654)2.13760059
110Optic neuritis (HP:0100653)2.13760059
111Short foot (HP:0001773)2.13628447
112Abnormality of T cells (HP:0002843)2.13592580
113Poikiloderma (HP:0001029)2.12829460
114Meningitis (HP:0001287)2.12211148
115Congenital stationary night blindness (HP:0007642)2.11960803
116Vasculitis (HP:0002633)2.11846899
117Prolonged bleeding time (HP:0003010)2.11660271
118Volvulus (HP:0002580)2.11581236
119Absent radius (HP:0003974)2.11356959
120Progressive inability to walk (HP:0002505)2.11208911
121Dialeptic seizures (HP:0011146)2.10408023
122Lactic acidosis (HP:0003128)2.08394880
123Nephrogenic diabetes insipidus (HP:0009806)2.05055204
124Poor head control (HP:0002421)2.04880780
125Recurrent skin infections (HP:0001581)2.03842978
126Congenital hepatic fibrosis (HP:0002612)2.03264593
127Furrowed tongue (HP:0000221)2.02931055
128Muscle fiber atrophy (HP:0100295)2.02499374
129Recurrent bronchitis (HP:0002837)2.01812577
130Panhypogammaglobulinemia (HP:0003139)2.01744562
131Exercise intolerance (HP:0003546)2.01178624
132Absent forearm bone (HP:0003953)1.99903478
133Aplasia involving forearm bones (HP:0009822)1.99903478
134Recurrent gram-negative bacterial infections (HP:0005420)1.98864712
135Primitive reflexes (palmomental, snout, glabellar) (HP:0002476)1.98708227
136Abnormality of the prostate (HP:0008775)1.97845674
137Cerebellar dysplasia (HP:0007033)1.96796915
138Large for gestational age (HP:0001520)1.96218571
139Tubulointerstitial nephritis (HP:0001970)1.95633617
140Blue irides (HP:0000635)1.95454538
141Tracheomalacia (HP:0002779)1.94119276
142Macroglossia (HP:0000158)1.93640488
143Short chin (HP:0000331)1.93406785
144Pancytopenia (HP:0001876)1.93010199
145Progressive macrocephaly (HP:0004481)1.92985215
146Hypoplasia of the thymus (HP:0000778)1.91731628
147Cupped ear (HP:0000378)1.91511248
148Abnormality of the nasal septum (HP:0000419)1.90882775
149Absence seizures (HP:0002121)1.90829648
150Chronic mucocutaneous candidiasis (HP:0002728)1.88334513
151Recurrent cutaneous fungal infections (HP:0011370)1.88334513
1523-Methylglutaconic aciduria (HP:0003535)1.87908285
153Bony spicule pigmentary retinopathy (HP:0007737)1.87816309
154Stomach cancer (HP:0012126)1.87425447
155Central scotoma (HP:0000603)1.87084099
156Clubbing of toes (HP:0100760)1.86115264
157Lymphopenia (HP:0001888)1.84958867
158Lissencephaly (HP:0001339)1.84908042
159Focal seizures (HP:0007359)1.84804895
160Hyperkalemia (HP:0002153)1.84660161
161Preaxial hand polydactyly (HP:0001177)1.83521046
162Tented upper lip vermilion (HP:0010804)1.83478192
163Metaphyseal dysplasia (HP:0100255)1.82839869
164Macrocytic anemia (HP:0001972)1.82358391
165Abnormality of the heme biosynthetic pathway (HP:0010472)1.82125837
166Encephalitis (HP:0002383)1.81785359
167Renal cortical cysts (HP:0000803)1.81066543
168Abnormality of the fingertips (HP:0001211)1.80943666
169Highly arched eyebrow (HP:0002553)1.80795142
170Hypoproteinemia (HP:0003075)1.80640752
171Abnormality of cells of the lymphoid lineage (HP:0012140)1.80308337
172Increased neuronal autofluorescent lipopigment (HP:0002074)1.80304687
173Severe visual impairment (HP:0001141)1.79639743
174Bronchomalacia (HP:0002780)1.79422840
175Neoplasm of the adrenal gland (HP:0100631)1.79096530
176Impaired smooth pursuit (HP:0007772)1.78976939
177Lymphoma (HP:0002665)1.77594932
178Congenital sensorineural hearing impairment (HP:0008527)1.77246192
179Atonic seizures (HP:0010819)1.76674797
180Abnormality of secondary sexual hair (HP:0009888)1.75061285
181Abnormality of the axillary hair (HP:0100134)1.75061285
182Osteomyelitis (HP:0002754)1.74172541
183Anencephaly (HP:0002323)1.73720593
184Severe combined immunodeficiency (HP:0004430)1.73318800
185Spontaneous hematomas (HP:0007420)1.72968653
186Thyroiditis (HP:0100646)1.71968859
187Hypoplastic iliac wings (HP:0002866)1.71404611
188Chronic sinusitis (HP:0011109)1.71257599
189Neutropenia (HP:0001875)1.71219613
190Thick eyebrow (HP:0000574)1.70456020
191Bulbous nose (HP:0000414)1.70302642
192Abnormality of incisor morphology (HP:0011063)1.68567577
193Small hand (HP:0200055)1.66595298
194Dynein arm defect of respiratory motile cilia (HP:0012255)1.66566757
195Absent/shortened dynein arms (HP:0200106)1.66566757

Predicted kinase interactions (KEA)

RankGene SetZ-score
1MAP3K123.35259895
2STK163.22559961
3EIF2AK13.05735773
4AKT32.95592465
5NME22.90884613
6BUB12.71477245
7ERBB32.34078511
8BLK2.31225499
9TAOK22.25627374
10MKNK22.23510307
11PIM22.18907784
12SIK32.14295889
13KIT2.10641082
14CASK2.01389597
15CDK192.01029736
16FRK10.0413194
17TXK1.90478870
18CCNB11.86514382
19JAK31.80989811
20CAMK1G1.80288936
21MAP3K141.79083093
22TBK11.78321803
23TGFBR11.74848403
24IRAK41.71287318
25BRD41.70542262
26CAMK1D1.69530894
27CDK121.69261151
28MAP4K11.66665429
29KDR1.64750607
30INSRR1.62538773
31ZAP701.61514946
32MAP3K41.58779802
33MYLK1.55014869
34ACVR1B1.54818943
35TEC1.50947800
36PBK1.42615400
37EIF2AK21.41914661
38TESK11.37900361
39ADRBK21.33267249
40NEK11.32989907
41WEE11.32422464
42FLT31.31541235
43TYK21.30827383
44DAPK11.29876793
45TAOK31.29822190
46OXSR11.28336162
47SGK21.28333002
48RPS6KA41.24118475
49DYRK21.23495679
50BTK1.23329891
51VRK11.20553734
52LATS11.19491460
53IKBKE1.18294671
54EIF2AK31.17803985
55STK38L1.17006073
56SYK1.16964867
57TRPM71.16164246
58SCYL21.14161150
59CDC71.12751430
60MAP2K31.12740960
61ADRBK11.11809347
62WNK31.09571755
63GRK11.08598196
64PIK3CA1.05896778
65SRPK11.00678470
66NTRK31.00207168
67STK390.99833213
68MELK0.99614320
69TLK10.97744324
70PIK3CG0.97703844
71LYN0.96214610
72MAP3K110.96024036
73MAP2K70.95848196
74NUAK10.90796249
75MAP3K70.90699182
76STK30.90623795
77IKBKB0.90026036
78PNCK0.88405301
79MARK10.87775730
80YES10.84193587
81MAP3K50.83379585
82PAK30.83336828
83WNK40.82758636
84BRAF0.82542757
85TESK20.82203087
86DAPK20.81047182
87WNK10.80955734
88PIM10.80622215
89PRKAA20.80286130
90BMPR1B0.80245373
91CDK80.80237627
92DYRK30.79558730
93FGFR20.79476031
94TNIK0.77969553
95NEK90.77645529
96SGK2230.76611953
97SGK4940.76611953
98STK240.73617814
99LRRK20.70389245
100CSF1R0.68970666
101MKNK10.66944785
102PAK40.66670694
103PRKCE0.66022470
104SGK30.65540648
105EPHA30.64647738
106RIPK40.63313275
107LCK0.61546479
108STK380.61403451
109ABL20.61301582
110FER0.61135522
111ZAK0.60256702
112PASK0.59917082
113CDK70.59559201
114CHUK0.59355125
115IRAK10.59072850
116NEK20.58863516
117CLK10.57323804
118ERBB20.56015791
119CSNK1A1L0.55870339
120MAP4K20.55604560
121STK110.55401179
122BRSK20.55273756
123ERN10.55243807
124CAMK40.55015385
125NLK0.54943387
126ATR0.53853110
127MAP2K60.52824519
128PRKAA10.52697934
129PTK2B0.52666364
130MAP3K80.51625294
131PDGFRB0.51396093
132PRKCD0.51360313
133OBSCN0.50422170
134CAMK10.49714307
135DAPK30.48512094
136SGK10.48015991
137MAPK130.46888966
138FES0.46857380
139IRAK30.46688439
140MAPK40.45472264
141JAK10.45297926
142PRKCG0.44990584
143ILK0.44751120
144STK100.43580343
145MARK20.42362832
146CDK30.41662691
147CSNK1D0.41632746
148MATK0.40774263
149MAPK110.40623993
150CAMKK20.39545371
151CSNK2A10.38210261
152PINK10.37514048
153MAP2K40.37254285
154MTOR0.36639134
155TIE10.35333952
156SIK20.35079076
157PLK20.34674625
158PKN10.33390366
159MAPK70.32837880
160ATM0.32728700
161STK40.32617719
162EPHA40.32530075
163RPS6KA30.30725671
164GSK3B0.30439247
165MAPK80.29826158
166CAMK2A0.29799919
167DYRK1A0.29743337
168PRKCH0.29645718
169FGFR30.28902416
170CHEK20.28486844
171RPS6KA60.27381785
172PRKG10.26782162
173PRKACB0.26630906
174MAP3K60.26373780
175TNK20.25011011
176BCR0.23908960

Predicted pathways (KEGG)

RankGene SetZ-score
1Proteasome_Homo sapiens_hsa030503.67411588
2DNA replication_Homo sapiens_hsa030303.58426251
3Ribosome_Homo sapiens_hsa030103.51687910
4Cytosolic DNA-sensing pathway_Homo sapiens_hsa046232.69410440
5Base excision repair_Homo sapiens_hsa034102.59301182
6Mismatch repair_Homo sapiens_hsa034302.50544981
7ABC transporters_Homo sapiens_hsa020102.35780150
8Nicotine addiction_Homo sapiens_hsa050332.35455493
9Pyrimidine metabolism_Homo sapiens_hsa002402.33491381
10Homologous recombination_Homo sapiens_hsa034402.18895597
11RNA polymerase_Homo sapiens_hsa030202.14013165
12Lysine degradation_Homo sapiens_hsa003101.97138693
13Taste transduction_Homo sapiens_hsa047421.96689813
14Primary immunodeficiency_Homo sapiens_hsa053401.87192466
15Nitrogen metabolism_Homo sapiens_hsa009101.86423629
16Dorso-ventral axis formation_Homo sapiens_hsa043201.84204756
17Spliceosome_Homo sapiens_hsa030401.81958650
18Nucleotide excision repair_Homo sapiens_hsa034201.81554464
19Intestinal immune network for IgA production_Homo sapiens_hsa046721.79782523
20Phototransduction_Homo sapiens_hsa047441.71521720
21Oxidative phosphorylation_Homo sapiens_hsa001901.67472539
22Parkinsons disease_Homo sapiens_hsa050121.66928178
23Butanoate metabolism_Homo sapiens_hsa006501.64206149
24Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030081.64103271
25Linoleic acid metabolism_Homo sapiens_hsa005911.62902590
26Legionellosis_Homo sapiens_hsa051341.62307051
27alpha-Linolenic acid metabolism_Homo sapiens_hsa005921.58303729
28Neuroactive ligand-receptor interaction_Homo sapiens_hsa040801.57693339
29Retrograde endocannabinoid signaling_Homo sapiens_hsa047231.56975780
30Leishmaniasis_Homo sapiens_hsa051401.56809950
31Measles_Homo sapiens_hsa051621.56107041
32Glutamatergic synapse_Homo sapiens_hsa047241.55594737
33Allograft rejection_Homo sapiens_hsa053301.55057555
34Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa009701.54950540
35Circadian entrainment_Homo sapiens_hsa047131.54924326
36RIG-I-like receptor signaling pathway_Homo sapiens_hsa046221.52417543
37Herpes simplex infection_Homo sapiens_hsa051681.51932310
38Morphine addiction_Homo sapiens_hsa050321.51369733
39Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007601.49636751
40Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008601.47311113
41Toll-like receptor signaling pathway_Homo sapiens_hsa046201.47175399
42Circadian rhythm_Homo sapiens_hsa047101.44820099
43Taurine and hypotaurine metabolism_Homo sapiens_hsa004301.43577919
44Tryptophan metabolism_Homo sapiens_hsa003801.42681584
45Calcium signaling pathway_Homo sapiens_hsa040201.32670517
46Ether lipid metabolism_Homo sapiens_hsa005651.29755439
47Protein export_Homo sapiens_hsa030601.28812056
48Serotonergic synapse_Homo sapiens_hsa047261.28471332
49Vascular smooth muscle contraction_Homo sapiens_hsa042701.27602110
50Natural killer cell mediated cytotoxicity_Homo sapiens_hsa046501.24316534
51Primary bile acid biosynthesis_Homo sapiens_hsa001201.22687715
52NF-kappa B signaling pathway_Homo sapiens_hsa040641.22135784
53Influenza A_Homo sapiens_hsa051641.21291079
54Salivary secretion_Homo sapiens_hsa049701.20546828
55GABAergic synapse_Homo sapiens_hsa047271.20192941
56Insulin secretion_Homo sapiens_hsa049111.19341709
57Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006031.18339824
58Pathogenic Escherichia coli infection_Homo sapiens_hsa051301.18029420
59Histidine metabolism_Homo sapiens_hsa003401.16080807
60Citrate cycle (TCA cycle)_Homo sapiens_hsa000201.15695732
61RNA transport_Homo sapiens_hsa030131.14860259
62RNA degradation_Homo sapiens_hsa030181.14586766
63Steroid hormone biosynthesis_Homo sapiens_hsa001401.14502733
64Cell cycle_Homo sapiens_hsa041101.13961956
65Antigen processing and presentation_Homo sapiens_hsa046121.13713740
66Huntingtons disease_Homo sapiens_hsa050161.11287518
67Long-term depression_Homo sapiens_hsa047301.10296805
68Purine metabolism_Homo sapiens_hsa002301.10230371
69One carbon pool by folate_Homo sapiens_hsa006701.09456747
70Glycerolipid metabolism_Homo sapiens_hsa005611.09218090
71Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049321.08571966
72Ovarian steroidogenesis_Homo sapiens_hsa049131.08225022
73Epstein-Barr virus infection_Homo sapiens_hsa051691.07627579
74Type II diabetes mellitus_Homo sapiens_hsa049301.07623209
75Cholinergic synapse_Homo sapiens_hsa047251.06517883
76Shigellosis_Homo sapiens_hsa051311.06498599
77Phosphatidylinositol signaling system_Homo sapiens_hsa040701.04154323
78Hematopoietic cell lineage_Homo sapiens_hsa046401.02040608
79Olfactory transduction_Homo sapiens_hsa047401.01252483
80FoxO signaling pathway_Homo sapiens_hsa040680.99772391
81SNARE interactions in vesicular transport_Homo sapiens_hsa041300.99308209
82cAMP signaling pathway_Homo sapiens_hsa040240.98716358
83Viral myocarditis_Homo sapiens_hsa054160.98020582
84B cell receptor signaling pathway_Homo sapiens_hsa046620.97336864
85Pertussis_Homo sapiens_hsa051330.95435632
86Oxytocin signaling pathway_Homo sapiens_hsa049210.95090112
87Renin secretion_Homo sapiens_hsa049240.94218866
88Asthma_Homo sapiens_hsa053100.93371720
89Other glycan degradation_Homo sapiens_hsa005110.92029486
90Apoptosis_Homo sapiens_hsa042100.91892577
91Inflammatory bowel disease (IBD)_Homo sapiens_hsa053210.91221417
92Dopaminergic synapse_Homo sapiens_hsa047280.90999707
93Selenocompound metabolism_Homo sapiens_hsa004500.90866666
94Pentose and glucuronate interconversions_Homo sapiens_hsa000400.89568758
95Phagosome_Homo sapiens_hsa041450.88402117
96Graft-versus-host disease_Homo sapiens_hsa053320.88278576
97Fatty acid biosynthesis_Homo sapiens_hsa000610.87990637
98Tuberculosis_Homo sapiens_hsa051520.87737883
99Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.87513533
100Aldosterone synthesis and secretion_Homo sapiens_hsa049250.87167896
101Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005200.87071827
102Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.85744017
103Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047500.85351470
104p53 signaling pathway_Homo sapiens_hsa041150.85323211
105Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006010.85106264
106cGMP-PKG signaling pathway_Homo sapiens_hsa040220.83636773
107Gastric acid secretion_Homo sapiens_hsa049710.83559923
108Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.82845316
109N-Glycan biosynthesis_Homo sapiens_hsa005100.81691639
110Ascorbate and aldarate metabolism_Homo sapiens_hsa000530.81535680
111Thyroid cancer_Homo sapiens_hsa052160.81426917
112Alzheimers disease_Homo sapiens_hsa050100.80743515
113Longevity regulating pathway - mammal_Homo sapiens_hsa042110.80416237
114Galactose metabolism_Homo sapiens_hsa000520.80222517
115TGF-beta signaling pathway_Homo sapiens_hsa043500.79437341
116Choline metabolism in cancer_Homo sapiens_hsa052310.79351283
117Rheumatoid arthritis_Homo sapiens_hsa053230.79083334
118Platelet activation_Homo sapiens_hsa046110.78866535
119Drug metabolism - other enzymes_Homo sapiens_hsa009830.78697705
120Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.78663195
121Autoimmune thyroid disease_Homo sapiens_hsa053200.78519659
122Pentose phosphate pathway_Homo sapiens_hsa000300.77586743
123Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa045500.75792998
124Osteoclast differentiation_Homo sapiens_hsa043800.75135965
125Pancreatic secretion_Homo sapiens_hsa049720.74421280
126Jak-STAT signaling pathway_Homo sapiens_hsa046300.73087631
127Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa005320.71961832
128Basal transcription factors_Homo sapiens_hsa030220.69602762
129Fanconi anemia pathway_Homo sapiens_hsa034600.69506590
130Hepatitis B_Homo sapiens_hsa051610.69409401
131Drug metabolism - cytochrome P450_Homo sapiens_hsa009820.69080403
132Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.68583912
133NOD-like receptor signaling pathway_Homo sapiens_hsa046210.67037335
134Type I diabetes mellitus_Homo sapiens_hsa049400.65919427
135Cytokine-cytokine receptor interaction_Homo sapiens_hsa040600.65503534
136Fc epsilon RI signaling pathway_Homo sapiens_hsa046640.65383429
137TNF signaling pathway_Homo sapiens_hsa046680.65359803
138MicroRNAs in cancer_Homo sapiens_hsa052060.65030952
139Phospholipase D signaling pathway_Homo sapiens_hsa040720.64833883
140MAPK signaling pathway_Homo sapiens_hsa040100.63156118
141Acute myeloid leukemia_Homo sapiens_hsa052210.62907682
142Ubiquitin mediated proteolysis_Homo sapiens_hsa041200.62778013
143Ras signaling pathway_Homo sapiens_hsa040140.61851463
144Sphingolipid metabolism_Homo sapiens_hsa006000.61689347
145Melanoma_Homo sapiens_hsa052180.61314647
146Retinol metabolism_Homo sapiens_hsa008300.61005850
147Cocaine addiction_Homo sapiens_hsa050300.60945064
148Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049600.60671810
149Pantothenate and CoA biosynthesis_Homo sapiens_hsa007700.60357361
150Maturity onset diabetes of the young_Homo sapiens_hsa049500.60015902
151Inositol phosphate metabolism_Homo sapiens_hsa005620.59990700
152Sulfur relay system_Homo sapiens_hsa041220.56511243
153Salmonella infection_Homo sapiens_hsa051320.55400297
154Glycerophospholipid metabolism_Homo sapiens_hsa005640.55278928
155Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042610.55244460
156Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005630.55216768
157Prolactin signaling pathway_Homo sapiens_hsa049170.54138686
158Amphetamine addiction_Homo sapiens_hsa050310.54046117
159Propanoate metabolism_Homo sapiens_hsa006400.53815790
160Insulin resistance_Homo sapiens_hsa049310.52644474
161Estrogen signaling pathway_Homo sapiens_hsa049150.52496944
162beta-Alanine metabolism_Homo sapiens_hsa004100.51596946
163Toxoplasmosis_Homo sapiens_hsa051450.51402802
164Axon guidance_Homo sapiens_hsa043600.51307262
165Chagas disease (American trypanosomiasis)_Homo sapiens_hsa051420.50303649
166Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054120.50302682
167Progesterone-mediated oocyte maturation_Homo sapiens_hsa049140.50175364
168Fructose and mannose metabolism_Homo sapiens_hsa000510.50020564
169mTOR signaling pathway_Homo sapiens_hsa041500.49416476
170ErbB signaling pathway_Homo sapiens_hsa040120.49002929
171Carbohydrate digestion and absorption_Homo sapiens_hsa049730.47999993
172Transcriptional misregulation in cancer_Homo sapiens_hsa052020.47503881
173Hippo signaling pathway_Homo sapiens_hsa043900.46788992
174Chemical carcinogenesis_Homo sapiens_hsa052040.46132139
175Non-homologous end-joining_Homo sapiens_hsa034500.45808282
176Valine, leucine and isoleucine degradation_Homo sapiens_hsa002800.45441858
177Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.45178624
178Bile secretion_Homo sapiens_hsa049760.45096050
179HTLV-I infection_Homo sapiens_hsa051660.43696756
180HIF-1 signaling pathway_Homo sapiens_hsa040660.43444751
181Hepatitis C_Homo sapiens_hsa051600.43219959
182Viral carcinogenesis_Homo sapiens_hsa052030.42235504
183T cell receptor signaling pathway_Homo sapiens_hsa046600.39738318
184Regulation of autophagy_Homo sapiens_hsa041400.38569874
185Glycolysis / Gluconeogenesis_Homo sapiens_hsa000100.34781213
186Synthesis and degradation of ketone bodies_Homo sapiens_hsa000720.34119273
187Chemokine signaling pathway_Homo sapiens_hsa040620.32102931
188Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051200.31861227
189Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001300.31745705
190Fc gamma R-mediated phagocytosis_Homo sapiens_hsa046660.31415423

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