PRDM16

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 reciprocal translocation t(1;3)(p36;q21) occurs in a subset of myelodysplastic syndrome (MDS) and acute myeloid leukemia (AML). This gene is located near the 1p36.3 breakpoint and has been shown to be specifically expressed in the t(1:3)(p36,q21)-positive MDS/AML. The protein encoded by this gene is a zinc finger transcription factor and contains an N-terminal PR domain. The translocation results in the overexpression of a truncated version of this protein that lacks the PR domain, which may play an important role in the pathogenesis of MDS and AML. Alternatively spliced transcript variants encoding distinct isoforms have been reported. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1DNA deamination (GO:0045006)8.30003768
2negative regulation of myotube differentiation (GO:0010832)7.30650809
3negative regulation of transcription by competitive promoter binding (GO:0010944)7.26795664
4disruption of cells of other organism involved in symbiotic interaction (GO:0051818)7.09959441
5killing of cells in other organism involved in symbiotic interaction (GO:0051883)7.09959441
6ribosome assembly (GO:0042255)7.00866424
7myeloid leukocyte mediated immunity (GO:0002444)6.95448248
8telomere maintenance via semi-conservative replication (GO:0032201)6.69060058
9neutrophil mediated immunity (GO:0002446)6.67340468
10DNA strand elongation involved in DNA replication (GO:0006271)6.11943048
11DNA strand elongation (GO:0022616)5.81461896
12killing of cells of other organism (GO:0031640)5.69285724
13disruption of cells of other organism (GO:0044364)5.69285724
14telomere maintenance via recombination (GO:0000722)5.59221973
15negative regulation of growth of symbiont in host (GO:0044130)5.43957321
16negative regulation of growth of symbiont involved in interaction with host (GO:0044146)5.43957321
17modulation of growth of symbiont involved in interaction with host (GO:0044144)5.43957321
18regulation of growth of symbiont in host (GO:0044126)5.43957321
19neuron fate determination (GO:0048664)5.38106970
20negative regulation of phagocytosis (GO:0050765)5.22353363
21viral transcription (GO:0019083)5.17798828
22DNA replication initiation (GO:0006270)5.16192383
23cerebral cortex radially oriented cell migration (GO:0021799)5.15669693
24respiratory chain complex IV assembly (GO:0008535)5.05605275
25translational termination (GO:0006415)4.98277759
26ribosomal small subunit assembly (GO:0000028)4.97374067
27epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)4.95451494
28mitotic recombination (GO:0006312)4.86079962
29SRP-dependent cotranslational protein targeting to membrane (GO:0006614)4.85027334
30nonmotile primary cilium assembly (GO:0035058)4.76232892
31defense response to fungus (GO:0050832)4.75901386
32cotranslational protein targeting to membrane (GO:0006613)4.71816519
33GDP-mannose metabolic process (GO:0019673)4.70418401
34protein targeting to ER (GO:0045047)4.69707293
35receptor catabolic process (GO:0032801)4.68353719
36protein localization to endoplasmic reticulum (GO:0070972)4.51343331
37establishment of protein localization to endoplasmic reticulum (GO:0072599)4.48149724
38cellular response to zinc ion (GO:0071294)4.46853268
39regulation of non-canonical Wnt signaling pathway (GO:2000050)4.45626601
40telomere maintenance via telomere lengthening (GO:0010833)4.44235135
41postsynaptic membrane organization (GO:0001941)4.43316181
42translational elongation (GO:0006414)4.40700483
43substrate-independent telencephalic tangential interneuron migration (GO:0021843)4.34087449
44substrate-independent telencephalic tangential migration (GO:0021826)4.34087449
45cell proliferation in forebrain (GO:0021846)4.30534664
46regulation of antigen processing and presentation of peptide antigen (GO:0002583)4.23134386
47DNA replication checkpoint (GO:0000076)4.20647617
48angiotensin maturation (GO:0002003)4.19297299
49response to fungus (GO:0009620)4.18319448
50pyrimidine nucleobase catabolic process (GO:0006208)4.11457719
51epithelial cilium movement (GO:0003351)4.10663069
52DNA unwinding involved in DNA replication (GO:0006268)4.09427506
53ribosomal small subunit biogenesis (GO:0042274)4.04598779
54pseudouridine synthesis (GO:0001522)4.02711898
55maturation of SSU-rRNA (GO:0030490)4.02509889
56intraciliary transport (GO:0042073)4.02033685
57translational initiation (GO:0006413)4.00710558
58negative regulation of striated muscle cell differentiation (GO:0051154)3.90215557
59presynaptic membrane assembly (GO:0097105)3.85728782
60pentose-phosphate shunt (GO:0006098)3.77857825
61cytochrome complex assembly (GO:0017004)3.76704134
62behavioral response to nicotine (GO:0035095)3.73185596
63somite development (GO:0061053)3.67030597
64negative regulation of astrocyte differentiation (GO:0048712)3.66688729
65endothelium development (GO:0003158)3.66250634
66cellular protein complex disassembly (GO:0043624)3.65509418
67viral life cycle (GO:0019058)3.64053303
68nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)3.63727075
69cilium movement (GO:0003341)3.62193406
70leukocyte mediated cytotoxicity (GO:0001909)3.58296373
71retinal ganglion cell axon guidance (GO:0031290)3.52799040
72heme biosynthetic process (GO:0006783)3.52375596
73olfactory bulb development (GO:0021772)3.49888261
74IMP metabolic process (GO:0046040)3.47854652
75nucleotide-excision repair, DNA gap filling (GO:0006297)3.45363995
76detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)3.45241045
77* tongue development (GO:0043586)3.44040360
78deoxyribonucleoside monophosphate metabolic process (GO:0009162)3.43447700
79radial glial cell differentiation (GO:0060019)3.42537807
80positive regulation of protein export from nucleus (GO:0046827)3.34258617
81dolichol-linked oligosaccharide biosynthetic process (GO:0006488)3.33290701
82NADPH regeneration (GO:0006740)3.33193109
83neuronal stem cell maintenance (GO:0097150)3.33049918
84developmental pigmentation (GO:0048066)3.31977111
85presynaptic membrane organization (GO:0097090)3.29076513
86nucleobase catabolic process (GO:0046113)3.27760842
87mannosylation (GO:0097502)3.25586278
88cardiovascular system development (GO:0072358)3.21589663
89protein complex disassembly (GO:0043241)3.19893467
90translation (GO:0006412)3.19625160
91dorsal/ventral pattern formation (GO:0009953)3.17444253
92antigen processing and presentation of endogenous peptide antigen (GO:0002483)3.16816519
93antigen processing and presentation of endogenous peptide antigen via MHC class I (GO:0019885)3.16816519
94smoothened signaling pathway (GO:0007224)3.14768099
95positive regulation of neuroblast proliferation (GO:0002052)3.14637369
96appendage development (GO:0048736)3.14054661
97limb development (GO:0060173)3.14054661
98axoneme assembly (GO:0035082)3.11367661
99cytokine production involved in immune response (GO:0002367)3.07476918
100nephron tubule formation (GO:0072079)3.07006803
101Arp2/3 complex-mediated actin nucleation (GO:0034314)3.06346536
102ribosomal large subunit biogenesis (GO:0042273)3.02960942
103protein polyglutamylation (GO:0018095)3.02335323
104axonal fasciculation (GO:0007413)3.02014942
105protein targeting to membrane (GO:0006612)3.00897941
106otic vesicle formation (GO:0030916)3.00862056
107macromolecular complex disassembly (GO:0032984)2.98661773
108dentate gyrus development (GO:0021542)2.97949598
109spinal cord development (GO:0021510)2.97422119
110cilium morphogenesis (GO:0060271)2.96870541
111transmission of nerve impulse (GO:0019226)2.96778037
112response to interferon-beta (GO:0035456)2.96273987
113regulation of inhibitory postsynaptic membrane potential (GO:0060080)2.96068724
114mitochondrial DNA replication (GO:0006264)2.95371060
115auditory receptor cell differentiation (GO:0042491)2.91689160
116nucleobase biosynthetic process (GO:0046112)2.90452958
117phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)2.89815958
118limb bud formation (GO:0060174)2.87707492
119axonemal dynein complex assembly (GO:0070286)2.85700488
120negative regulation of transcription regulatory region DNA binding (GO:2000678)2.85335786
121dendritic spine morphogenesis (GO:0060997)2.85292789
122respiratory burst (GO:0045730)2.84128511
123axon ensheathment in central nervous system (GO:0032291)2.83961506
124central nervous system myelination (GO:0022010)2.83961506
125Wnt signaling pathway, planar cell polarity pathway (GO:0060071)2.83387258
126cilium organization (GO:0044782)2.83098027
127glucose 6-phosphate metabolic process (GO:0051156)2.82662134
128protein localization to cilium (GO:0061512)2.81319545
129neuron recognition (GO:0008038)2.81224409
130viral genome replication (GO:0019079)2.80034723
131membrane invagination (GO:0010324)2.79993299
132aerobic respiration (GO:0009060)2.79677226
133positive regulation of neural precursor cell proliferation (GO:2000179)2.79615312
134nuclear-transcribed mRNA catabolic process (GO:0000956)2.79452938
135cilium assembly (GO:0042384)2.79229741
136cerebral cortex cell migration (GO:0021795)2.78863726
137photoreceptor cell maintenance (GO:0045494)2.78380145
138exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay 2.78369683
139startle response (GO:0001964)2.78127337
140auditory behavior (GO:0031223)2.77889095
141regulation of timing of cell differentiation (GO:0048505)2.77304040
142response to interferon-alpha (GO:0035455)2.76984424
143telomere maintenance (GO:0000723)2.76407906
144forebrain cell migration (GO:0021885)2.75650717
145regulation of cilium movement (GO:0003352)2.75575224
146left/right axis specification (GO:0070986)2.75351499
147ribonucleoprotein complex biogenesis (GO:0022613)2.75318228
148regulation of development, heterochronic (GO:0040034)2.74056182
149negative regulation of RNA splicing (GO:0033119)2.73556045
150telomere organization (GO:0032200)2.73307143
151formation of translation preinitiation complex (GO:0001731)2.72733432
152regulation of chemokine biosynthetic process (GO:0045073)2.71200857
153positive regulation of amino acid transport (GO:0051957)2.70898048
154L-serine metabolic process (GO:0006563)2.69788177
155mRNA catabolic process (GO:0006402)2.69769448
156negative regulation of mRNA splicing, via spliceosome (GO:0048025)2.69653752
157regulation of pigment cell differentiation (GO:0050932)2.69206957
158calcium-dependent cell-cell adhesion via plasma membrane cell adhesion molecules (GO:0016339)2.68623455
159myeloid dendritic cell activation (GO:0001773)2.66344687
160negative regulation of oligodendrocyte differentiation (GO:0048715)2.65988021
161pentose metabolic process (GO:0019321)2.65055055
162regulation of establishment of planar polarity (GO:0090175)2.64398273
163left/right pattern formation (GO:0060972)2.63604352
164camera-type eye morphogenesis (GO:0048593)2.63292756
165artery development (GO:0060840)2.62048318
166protein heterotetramerization (GO:0051290)2.62045554
167telencephalon cell migration (GO:0022029)2.61121390
168antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:2.60775184
169regulation of feeding behavior (GO:0060259)2.58243650
170neuron cell-cell adhesion (GO:0007158)2.57205018
171protein neddylation (GO:0045116)2.56270592
172nephron tubule morphogenesis (GO:0072078)2.55872034
173nephron epithelium morphogenesis (GO:0072088)2.55872034
174response to nitrosative stress (GO:0051409)2.54172945
175lens fiber cell development (GO:0070307)2.53343738
176positive regulation of action potential (GO:0045760)2.51851931
177cilium or flagellum-dependent cell motility (GO:0001539)2.51738427
178L-fucose catabolic process (GO:0042355)2.51506946
179fucose catabolic process (GO:0019317)2.51506946
180L-fucose metabolic process (GO:0042354)2.51506946
181regulation of respiratory system process (GO:0044065)2.50250678
182regulation of action potential (GO:0098900)2.49896766
183response to pheromone (GO:0019236)2.49221776
184regulation of smoothened signaling pathway (GO:0008589)2.48941366
185membrane depolarization during cardiac muscle cell action potential (GO:0086012)2.47801427
186telencephalon development (GO:0021537)2.47063273
187negative regulation of glial cell differentiation (GO:0045686)2.45166956
188pituitary gland development (GO:0021983)2.45036191
189negative regulation of response to food (GO:0032096)2.44292964
190negative regulation of appetite (GO:0032099)2.44292964
191cornea development in camera-type eye (GO:0061303)2.44093465
192spinal cord association neuron differentiation (GO:0021527)2.43826327
193cellular response to cholesterol (GO:0071397)2.42001752
194inner ear receptor stereocilium organization (GO:0060122)2.41527932
195neural tube formation (GO:0001841)2.40466965
196water-soluble vitamin biosynthetic process (GO:0042364)2.38076463

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1E2F7_22180533_ChIP-Seq_HELA_Human8.30348059
2* EZH2_22144423_ChIP-Seq_EOC_Human6.17077126
3EKLF_21900194_ChIP-Seq_ERYTHROCYTE_Mouse4.96828754
4MYC_18555785_ChIP-Seq_MESCs_Mouse4.23269411
5SOX9_22984422_ChIP-ChIP_TESTIS_Rat3.34623580
6MYC_18358816_ChIP-ChIP_MESCs_Mouse3.04282756
7NOTCH1_17114293_ChIP-ChIP_T-ALL_Human2.91477046
8VDR_21846776_ChIP-Seq_THP-1_Human2.88282766
9MYB_21317192_ChIP-Seq_ERMYB_Mouse2.87716150
10GLI1_17442700_ChIP-ChIP_MESCs_Mouse2.81376999
11ZNF274_21170338_ChIP-Seq_K562_Hela2.80689193
12E2F4_17652178_ChIP-ChIP_JURKAT_Human2.65768186
13EST1_17652178_ChIP-ChIP_JURKAT_Human2.63013892
14SPI1_22790984_ChIP-Seq_ERYTHROLEUKEMIA_Mouse2.57803173
15GBX2_23144817_ChIP-Seq_PC3_Human2.53755331
16ZFP322A_24550733_ChIP-Seq_MESCs_Mouse2.53550471
17GABP_17652178_ChIP-ChIP_JURKAT_Human2.52583809
18TAL1_20887958_ChIP-Seq_HPC-7_Mouse2.51298045
19JARID1A_20064375_ChIP-Seq_MESCs_Mouse2.47059243
20GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse2.46641014
21ELF1_17652178_ChIP-ChIP_JURKAT_Human2.42798866
22* MYC_19030024_ChIP-ChIP_MESCs_Mouse2.42325674
23* EZH2_27304074_Chip-Seq_ESCs_Mouse2.40851995
24IGF1R_20145208_ChIP-Seq_DFB_Human2.40050045
25KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human2.39270008
26* CBX2_27304074_Chip-Seq_ESCs_Mouse2.38356713
27HCFC1_20581084_ChIP-Seq_MESCs_Mouse2.33754942
28VDR_22108803_ChIP-Seq_LS180_Human2.33627498
29ETS1_20019798_ChIP-Seq_JURKAT_Human2.30403727
30RUNX1_20887958_ChIP-Seq_HPC-7_Mouse2.29656632
31RBPJ_22232070_ChIP-Seq_NCS_Mouse2.27853791
32MECOM_23826213_ChIP-Seq_KASUMI_Mouse2.19096936
33NR1H3_23393188_ChIP-Seq_ATHEROSCLEROTIC-FOAM_Human2.17702571
34* JARID2_20064375_ChIP-Seq_MESCs_Mouse2.16000119
35ZFP57_27257070_Chip-Seq_ESCs_Mouse2.14151173
36ERG_20887958_ChIP-Seq_HPC-7_Mouse2.12452815
37MYC_22102868_ChIP-Seq_BL_Human2.10961712
38MYC_19079543_ChIP-ChIP_MESCs_Mouse2.10539439
39YY1_21170310_ChIP-Seq_MESCs_Mouse2.08436118
40* RNF2_27304074_Chip-Seq_ESCs_Mouse1.98897761
41VDR_24763502_ChIP-Seq_THP-1_Human1.94502261
42FLI1_20887958_ChIP-Seq_HPC-7_Mouse1.94443984
43SCL_19346495_ChIP-Seq_HPC-7_Human1.94174364
44EED_16625203_ChIP-ChIP_MESCs_Mouse1.94001872
45CTBP1_25329375_ChIP-Seq_LNCAP_Human1.92835877
46RNF2_27304074_Chip-Seq_NSC_Mouse1.91685052
47PPARG_19300518_ChIP-PET_3T3-L1_Mouse1.90069115
48* SUZ12_18692474_ChIP-Seq_MESCs_Mouse1.88302182
49SFPI1_20887958_ChIP-Seq_HPC-7_Mouse1.88050527
50TAF15_26573619_Chip-Seq_HEK293_Human1.85908332
51FUS_26573619_Chip-Seq_HEK293_Human1.85857595
52* EZH2_27294783_Chip-Seq_ESCs_Mouse1.85452578
53CTBP2_25329375_ChIP-Seq_LNCAP_Human1.85410339
54SUZ12_18555785_ChIP-Seq_MESCs_Mouse1.85282067
55GATA1_22025678_ChIP-Seq_K562_Human1.84204003
56CREB1_15753290_ChIP-ChIP_HEK293T_Human1.83014272
57VDR_23849224_ChIP-Seq_CD4+_Human1.82803777
58NR4A2_19515692_ChIP-ChIP_MN9D_Mouse1.82074887
59XRN2_22483619_ChIP-Seq_HELA_Human1.81809733
60* EZH2_18974828_ChIP-Seq_MESCs_Mouse1.77858239
61* RNF2_18974828_ChIP-Seq_MESCs_Mouse1.77858239
62SPI1_23547873_ChIP-Seq_NB4_Human1.77063315
63* SUZ12_27294783_Chip-Seq_ESCs_Mouse1.73147701
64P300_19829295_ChIP-Seq_ESCs_Human1.69960960
65PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.68959343
66E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse1.68116547
67CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons1.68004705
68SRF_21415370_ChIP-Seq_HL-1_Mouse1.67539195
69* JARID2_20075857_ChIP-Seq_MESCs_Mouse1.67205959
70HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human1.66390481
71CEBPD_23245923_ChIP-Seq_MEFs_Mouse1.66125339
72* REST_21632747_ChIP-Seq_MESCs_Mouse1.65813944
73IRF1_19129219_ChIP-ChIP_H3396_Human1.64584236
74* SUZ12_16625203_ChIP-ChIP_MESCs_Mouse1.64496788
75FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human1.63783748
76EWS_26573619_Chip-Seq_HEK293_Human1.62963327
77NELFA_20434984_ChIP-Seq_ESCs_Mouse1.61330573
78E2F1_18555785_ChIP-Seq_MESCs_Mouse1.59041560
79HOXB4_20404135_ChIP-ChIP_EML_Mouse1.57934360
80NOTCH1_21737748_ChIP-Seq_TLL_Human1.56214847
81DCP1A_22483619_ChIP-Seq_HELA_Human1.53449506
82TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.53114782
83POU5F1_26923725_Chip-Seq_MESODERM_Mouse1.53114782
84* E2F1_21310950_ChIP-Seq_MCF-7_Human1.52957860
85FOXP3_21729870_ChIP-Seq_TREG_Human1.52752392
86CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human1.52585483
87* SUZ12_18974828_ChIP-Seq_MESCs_Mouse1.52469183
88CIITA_25753668_ChIP-Seq_RAJI_Human1.51430352
89* SUZ12_18692474_ChIP-Seq_MEFs_Mouse1.49926511
90TTF2_22483619_ChIP-Seq_HELA_Human1.49915904
91GATA1_22383799_ChIP-Seq_G1ME_Mouse1.47068787
92THAP11_20581084_ChIP-Seq_MESCs_Mouse1.46828717
93LYL1_20887958_ChIP-Seq_HPC-7_Mouse1.46617675
94ZFX_18555785_ChIP-Seq_MESCs_Mouse1.45142832
95GABP_19822575_ChIP-Seq_HepG2_Human1.44995182
96MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse1.44537033
97GFI1B_20887958_ChIP-Seq_HPC-7_Mouse1.44432616
98* RNF2_16625203_ChIP-ChIP_MESCs_Mouse1.44323148
99* PHC1_16625203_ChIP-ChIP_MESCs_Mouse1.44151176
100TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat1.43879264
101BRD4_27068464_Chip-Seq_AML-cells_Mouse1.43040156
102ASXL1_24218140_ChIP-Seq_BMDM_Mouse1.41086530
103* BMI1_23680149_ChIP-Seq_NPCS_Mouse1.39633657
104MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human1.37373277
105FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse1.37049099
106SALL1_21062744_ChIP-ChIP_HESCs_Human1.36799051
107DROSHA_22980978_ChIP-Seq_HELA_Human1.36046101
108SMAD4_21799915_ChIP-Seq_A2780_Human1.35778269
109* TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.34415813
110POU5F1_16153702_ChIP-ChIP_HESCs_Human1.33755180
111CTNNB1_24651522_ChIP-Seq_LGR5+_INTESTINAL_STEM_Human1.33464386
112* SUZ12_20075857_ChIP-Seq_MESCs_Mouse1.33455547
113* RING1B_27294783_Chip-Seq_ESCs_Mouse1.31712202
114IRF4_20064451_ChIP-Seq_CD4+T_Mouse1.29974435
115CBP_20019798_ChIP-Seq_JUKART_Human1.29974435
116* SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.28566373
117PIAS1_25552417_ChIP-Seq_VCAP_Human1.28223989
118TP63_19390658_ChIP-ChIP_HaCaT_Human1.27827125
119AR_21909140_ChIP-Seq_LNCAP_Human1.27370800
120MEIS1_20887958_ChIP-Seq_HPC-7_Mouse1.27333677
121* REST_18959480_ChIP-ChIP_MESCs_Mouse1.27157200
122NR3C1_21868756_ChIP-Seq_MCF10A_Human1.26210109
123FOXO3_22982991_ChIP-Seq_MACROPHAGES_Mouse1.26000478
124KLF4_25985364_ChIP-Seq_ATHEROSCLEROSIS_LESION_Mouse1.25736700
125RUNX2_22187159_ChIP-Seq_PCA_Human1.25394000
126STAT3_23295773_ChIP-Seq_U87_Human1.25182114
127SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.25000749
128RUNX1_22412390_ChIP-Seq_EML_Mouse1.24611443
129* MTF2_20144788_ChIP-Seq_MESCs_Mouse1.23907539
130CEBPB_24764292_ChIP-Seq_MC3T3_Mouse1.23866851
131POU3F2_20337985_ChIP-ChIP_501MEL_Human1.23585038
132NCOR_22465074_ChIP-Seq_MACROPHAGES_Mouse1.22504022
133STAT4_19710469_ChIP-ChIP_TH1__Mouse1.22073119
134SMAD3_21741376_ChIP-Seq_EPCs_Human1.20846681
135SPI1_22096565_ChIP-ChIP_GC-B_Mouse1.18964243
136STAT3_22323479_ChIP-Seq_MACROPHAGE_Mouse1.18934611
137LMO2_20887958_ChIP-Seq_HPC-7_Mouse1.17773995
138TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.17460265
139AR_21572438_ChIP-Seq_LNCaP_Human1.17031114
140CHD7_19251738_ChIP-ChIP_MESCs_Mouse1.16644034
141AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human1.16030154
142MAF_26560356_Chip-Seq_TH1_Human1.15286906
143IRF8_22096565_ChIP-ChIP_GC-B_Mouse1.14285726
144CEBPB_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.13598352
145IRF1_21803131_ChIP-Seq_MONOCYTES_Human1.12557982
146EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human1.10768550
147BCAT_22108803_ChIP-Seq_LS180_Human1.10618910
148AR_25329375_ChIP-Seq_VCAP_Human1.10465745
149SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.10080434
150MYCN_18555785_ChIP-Seq_MESCs_Mouse1.09439170
151* E2F4_21247883_ChIP-Seq_LYMPHOBLASTOID_Human1.08861568
152PU.1_20513432_ChIP-Seq_Bcells_Mouse1.08469007
153TCF4_23295773_ChIP-Seq_U87_Human1.07535265
154TOP2B_26459242_ChIP-Seq_MCF-7_Human1.07383889
155FOXP2_21765815_ChIP-ChIP_NEURO2A_Mouse1.07297272
156TRIM28_17542650_ChIP-ChIP_NTERA2_Human1.07153125
157PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse1.07141039
158STAT3_1855785_ChIP-Seq_MESCs_Mouse1.07080842
159* LMO2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.06552781
160UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human1.06386992
161CEBPB_26923725_Chip-Seq_MESODERM_Mouse1.05710065
162ZFP42_18358816_ChIP-ChIP_MESCs_Mouse1.04771403
163* SOX2_21211035_ChIP-Seq_LN229_Gbm1.03839569
164FOXM1_23109430_ChIP-Seq_U2OS_Human1.03421559
165TCF4_22108803_ChIP-Seq_LS180_Human1.03383288
166TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human1.02559748
167POU5F1_18555785_ChIP-Seq_MESCs_Mouse1.02548033
168CHD1_19587682_ChIP-ChIP_MESCs_Mouse1.02489086
169UTX_26944678_Chip-Seq_JUKART_Human1.02270449
170* SA1_27219007_Chip-Seq_ERYTHROID_Human1.01620797
171CTNNB1_20615089_ChIP-ChIP_FETAL_BRAIN_Human1.01232988
172MYCN_21190229_ChIP-Seq_SHEP-21N_Human1.01107575
173OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse0.99662301
174OLIG2_26023283_ChIP-Seq_AINV15_Mouse0.99621808
175GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse0.99594260
176PU.1_20513432_ChIP-Seq_MACROPHAGES_Mouse0.99168292
177TEAD4_22529382_ChIP-Seq_TROPHECTODERM_Mouse0.99027864
178RCOR2_21632747_ChIP-Seq_MESCs_Mouse0.98974517
179* MYBL2_22936984_ChIP-ChIP_MESCs_Mouse0.98500746
180CTCF_18555785_ChIP-Seq_MESCs_Mouse0.97940641
181SMAD3_21741376_ChIP-Seq_ESCs_Human0.97940057
182IRF8_21731497_ChIP-ChIP_J774_Mouse0.97897594
183MEIS1_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse0.97573394
184ELK1_22589737_ChIP-Seq_MCF10A_Human0.97143093
185KLF5_20875108_ChIP-Seq_MESCs_Mouse0.96687839
186MYB_26560356_Chip-Seq_TH2_Human0.96367995
187IKZF1_21737484_ChIP-ChIP_HCT116_Human0.96283482
188* AR_19668381_ChIP-Seq_PC3_Human0.95834988
189ELK1_19687146_ChIP-ChIP_HELA_Human0.95221058
190HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse0.94307861
191CTCF_26484167_Chip-Seq_Bcells_Mouse0.92719456
192GATA2_22383799_ChIP-Seq_G1ME_Mouse0.92286183
193EBNA2_21746931_ChIP-Seq_IB4-LCL_Human0.91572459
194GATA2_20887958_ChIP-Seq_HPC-7_Mouse0.90454670
195NKX2-5_21415370_ChIP-Seq_HL-1_Mouse0.90248452
196EGR1_19374776_ChIP-ChIP_THP-1_Human0.89866281
197CUX1_19635798_ChIP-ChIP_MULTIPLE_HUMAN_CANCER_TYPES_Human0.87419213
198SMRT_22465074_ChIP-Seq_MACROPHAGES_Mouse0.87264429

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0009379_abnormal_foot_pigmentation7.19837194
2MP0003646_muscle_fatigue5.61506980
3MP0005174_abnormal_tail_pigmentation4.39097663
4MP0000566_synostosis3.99317079
5MP0003724_increased_susceptibility_to3.78416406
6MP0008789_abnormal_olfactory_epithelium3.44138706
7MP0010030_abnormal_orbit_morphology3.28156735
8MP0005409_darkened_coat_color3.23693430
9MP0001853_heart_inflammation3.23506752
10MP0003303_peritoneal_inflammation3.17585667
11MP0000015_abnormal_ear_pigmentation3.16701669
12MP0005499_abnormal_olfactory_system2.98226717
13MP0005394_taste/olfaction_phenotype2.98226717
14MP0002653_abnormal_ependyma_morphology2.97909671
15MP0002234_abnormal_pharynx_morphology2.90854718
16MP0005075_abnormal_melanosome_morpholog2.70328071
17MP0002095_abnormal_skin_pigmentation2.63861854
18MP0002396_abnormal_hematopoietic_system2.54090549
19MP0000372_irregular_coat_pigmentation2.49430469
20MP0001188_hyperpigmentation2.45772799
21MP0003122_maternal_imprinting2.42624706
22MP0000778_abnormal_nervous_system2.41741373
23MP0001293_anophthalmia2.32674859
24MP0000490_abnormal_crypts_of2.25448940
25MP0006292_abnormal_olfactory_placode2.22797053
26MP0000751_myopathy2.18081725
27MP0000631_abnormal_neuroendocrine_gland2.09011319
28MP0000465_gastrointestinal_hemorrhage2.00636033
29MP0003693_abnormal_embryo_hatching1.97300955
30MP0003787_abnormal_imprinting1.91997318
31MP0004885_abnormal_endolymph1.91353751
32MP0009333_abnormal_splenocyte_physiolog1.91077538
33MP0010094_abnormal_chromosome_stability1.90648153
34MP0004133_heterotaxia1.83670014
35MP0003880_abnormal_central_pattern1.83532300
36MP0004957_abnormal_blastocyst_morpholog1.79180939
37MP0003436_decreased_susceptibility_to1.77608102
38MP0008260_abnormal_autophagy1.74643376
39MP0002233_abnormal_nose_morphology1.74122399
40MP0005551_abnormal_eye_electrophysiolog1.69364708
41MP0003938_abnormal_ear_development1.65609712
42MP0006072_abnormal_retinal_apoptosis1.62171624
43MP0008058_abnormal_DNA_repair1.60535279
44MP0001835_abnormal_antigen_presentation1.59773570
45MP0000026_abnormal_inner_ear1.59435035
46MP0003763_abnormal_thymus_physiology1.53162440
47MP0005025_abnormal_response_to1.49844224
48MP0003172_abnormal_lysosome_physiology1.48604542
49MP0002419_abnormal_innate_immunity1.47151123
50MP0005646_abnormal_pituitary_gland1.45957997
51MP0003828_pulmonary_edema1.45462668
52MP0001984_abnormal_olfaction1.45386137
53MP0002148_abnormal_hypersensitivity_rea1.42995606
54MP0005248_abnormal_Harderian_gland1.41051462
55MP0003077_abnormal_cell_cycle1.40180726
56MP0008057_abnormal_DNA_replication1.40103352
57MP0003121_genomic_imprinting1.36220813
58MP0005377_hearing/vestibular/ear_phenot1.35498938
59MP0003878_abnormal_ear_physiology1.35498938
60MP0001968_abnormal_touch/_nociception1.35130690
61MP0002102_abnormal_ear_morphology1.34765413
62MP0001486_abnormal_startle_reflex1.34047615
63MP0005595_abnormal_vascular_smooth1.33426067
64MP0009785_altered_susceptibility_to1.31902858
65MP0001485_abnormal_pinna_reflex1.31617752
66MP0002166_altered_tumor_susceptibility1.31585209
67MP0009053_abnormal_anal_canal1.31038010
68MP0001529_abnormal_vocalization1.30931867
69MP0000858_altered_metastatic_potential1.28800103
70MP0005253_abnormal_eye_physiology1.28642374
71MP0002837_dystrophic_cardiac_calcinosis1.28626511
72MP0004808_abnormal_hematopoietic_stem1.27828483
73MP0006276_abnormal_autonomic_nervous1.27288455
74MP0003111_abnormal_nucleus_morphology1.26758006
75MP0005391_vision/eye_phenotype1.23775273
76MP0003937_abnormal_limbs/digits/tail_de1.23270236
77* MP0003755_abnormal_palate_morphology1.23111094
78MP0002075_abnormal_coat/hair_pigmentati1.22931476
79MP0004142_abnormal_muscle_tone1.22912373
80MP0000428_abnormal_craniofacial_morphol1.22803886
81MP0003221_abnormal_cardiomyocyte_apopto1.22633226
82MP0002638_abnormal_pupillary_reflex1.21876669
83MP0006036_abnormal_mitochondrial_physio1.20986395
84MP0000678_abnormal_parathyroid_gland1.17626982
85* MP0005195_abnormal_posterior_eye1.16729020
86MP0002557_abnormal_social/conspecific_i1.16583727
87MP0003942_abnormal_urinary_system1.15549252
88MP0008007_abnormal_cellular_replicative1.15433482
89MP0005464_abnormal_platelet_physiology1.14556746
90MP0002752_abnormal_somatic_nervous1.14313100
91MP0003283_abnormal_digestive_organ1.13693288
92MP0002092_abnormal_eye_morphology1.13626051
93MP0001963_abnormal_hearing_physiology1.13380365
94MP0003186_abnormal_redox_activity1.13329999
95MP0002420_abnormal_adaptive_immunity1.13045688
96MP0000049_abnormal_middle_ear1.12015074
97MP0003123_paternal_imprinting1.11763297
98MP0002063_abnormal_learning/memory/cond1.11342738
99MP0005165_increased_susceptibility_to1.10407557
100MP0003866_abnormal_defecation1.09856792
101MP0001819_abnormal_immune_cell1.09488080
102MP0009745_abnormal_behavioral_response1.09425252
103MP0000681_abnormal_thyroid_gland1.08976211
104MP0002928_abnormal_bile_duct1.08856639
105MP0003635_abnormal_synaptic_transmissio1.07720143
106MP0002736_abnormal_nociception_after1.07119384
107MP0005171_absent_coat_pigmentation1.07079813
108MP0002006_tumorigenesis1.06429517
109MP0006138_congestive_heart_failure1.05820105
110MP0000371_diluted_coat_color1.05199022
111MP0003861_abnormal_nervous_system1.04880561
112MP0002572_abnormal_emotion/affect_behav1.04826442
113MP0000955_abnormal_spinal_cord1.04208114
114MP0001286_abnormal_eye_development1.04158201
115MP0001663_abnormal_digestive_system1.02286409
116* MP0002152_abnormal_brain_morphology1.01298666
117MP0004484_altered_response_of1.00523742
118MP0002272_abnormal_nervous_system0.99033366
119MP0002398_abnormal_bone_marrow0.98926678
120MP0001346_abnormal_lacrimal_gland0.98792873
121MP0003011_delayed_dark_adaptation0.98447911
122MP0004084_abnormal_cardiac_muscle0.97844871
123MP0005000_abnormal_immune_tolerance0.97106212
124MP0002184_abnormal_innervation0.95854891
125MP0005408_hypopigmentation0.95854786
126MP0008775_abnormal_heart_ventricle0.95521581
127MP0000534_abnormal_ureter_morphology0.93858616
128MP0001324_abnormal_eye_pigmentation0.93791631
129MP0000537_abnormal_urethra_morphology0.92938051
130* MP0000716_abnormal_immune_system0.91037664
131MP0005397_hematopoietic_system_phenotyp0.90696760
132MP0001545_abnormal_hematopoietic_system0.90696760
133MP0002882_abnormal_neuron_morphology0.90430728
134MP0002697_abnormal_eye_size0.90076598
135MP0004859_abnormal_synaptic_plasticity0.90006599
136MP0003183_abnormal_peptide_metabolism0.89634055
137MP0001986_abnormal_taste_sensitivity0.87929475
138MP0006054_spinal_hemorrhage0.87857367
139MP0001299_abnormal_eye_distance/0.87010600
140MP0000358_abnormal_cell_content/0.86658039
141* MP0002116_abnormal_craniofacial_bone0.86615982
142* MP0002429_abnormal_blood_cell0.86400874
143MP0008877_abnormal_DNA_methylation0.84679152
144MP0002733_abnormal_thermal_nociception0.84354300
145MP0002019_abnormal_tumor_incidence0.84220384
146MP0002064_seizures0.83191152
147MP0003136_yellow_coat_color0.83100447
148MP0010155_abnormal_intestine_physiology0.81509704
149MP0002160_abnormal_reproductive_system0.81485790
150MP0000689_abnormal_spleen_morphology0.81090663
151MP0002282_abnormal_trachea_morphology0.80549937
152MP0003890_abnormal_embryonic-extraembry0.80267249
153MP0003119_abnormal_digestive_system0.79449387
154MP0004883_abnormal_blood_vessel0.78804678
155MP0001533_abnormal_skeleton_physiology0.78556057
156MP0002723_abnormal_immune_serum0.78325554
157MP0001186_pigmentation_phenotype0.77604239
158MP0002938_white_spotting0.77488564
159MP0003567_abnormal_fetal_cardiomyocyte0.76574676
160MP0005084_abnormal_gallbladder_morpholo0.76026592
161MP0002722_abnormal_immune_system0.75962213
162MP0002067_abnormal_sensory_capabilities0.75459639
163MP0001970_abnormal_pain_threshold0.75037510
164MP0002876_abnormal_thyroid_physiology0.73823636
165MP0004381_abnormal_hair_follicle0.73615995
166MP0000427_abnormal_hair_cycle0.73106833
167MP0002751_abnormal_autonomic_nervous0.72401319
168MP0003137_abnormal_impulse_conducting0.72099688
169MP0005187_abnormal_penis_morphology0.71695097
170MP0002734_abnormal_mechanical_nocicepti0.71086020
171MP0000579_abnormal_nail_morphology0.70402582
172MP0005423_abnormal_somatic_nervous0.70399567
173MP0002452_abnormal_antigen_presenting0.70190466
174MP0001502_abnormal_circadian_rhythm0.69832102
175MP0003300_gastrointestinal_ulcer0.69379730
176MP0002822_catalepsy0.69267392
177MP0000249_abnormal_blood_vessel0.67634791
178MP0004147_increased_porphyrin_level0.67001316
179MP0005058_abnormal_lysosome_morphology0.66795701
180MP0001873_stomach_inflammation0.66752983
181MP0004043_abnormal_pH_regulation0.64982516
182MP0002249_abnormal_larynx_morphology0.64852961
183MP0001845_abnormal_inflammatory_respons0.64641031
184MP0001501_abnormal_sleep_pattern0.64036499
185MP0004742_abnormal_vestibular_system0.63949033
186MP0000383_abnormal_hair_follicle0.63766658
187MP0008004_abnormal_stomach_pH0.59327353
188MP0000685_abnormal_immune_system0.58572330
189MP0005164_abnormal_response_to0.57687962
190MP0008469_abnormal_protein_level0.57628877

Predicted human phenotypes

RankGene SetZ-score
1Reduced antithrombin III activity (HP:0001976)9.94507946
2Type I transferrin isoform profile (HP:0003642)8.07022810
3Abnormal protein glycosylation (HP:0012346)6.05930297
4Abnormal glycosylation (HP:0012345)6.05930297
5Abnormal isoelectric focusing of serum transferrin (HP:0003160)6.05930297
6Abnormal protein N-linked glycosylation (HP:0012347)6.05930297
7Abnormal number of erythroid precursors (HP:0012131)4.94603442
8Thrombocytosis (HP:0001894)4.79933926
9Abnormality of cells of the erythroid lineage (HP:0012130)4.74055223
10Hepatic necrosis (HP:0002605)4.38416729
11Decreased activity of cytochrome C oxidase in muscle tissue (HP:0003688)4.31051055
12Hepatocellular necrosis (HP:0001404)4.30217348
13Abnormality of midbrain morphology (HP:0002418)4.02535183
14Molar tooth sign on MRI (HP:0002419)4.02535183
15Increased hepatocellular lipid droplets (HP:0006565)3.97967743
16Ankle contracture (HP:0006466)3.94732995
17Pancreatic fibrosis (HP:0100732)3.85098124
18Late onset (HP:0003584)3.82026348
19Muscle abnormality related to mitochondrial dysfunction (HP:0003800)3.76960379
20Lipid accumulation in hepatocytes (HP:0006561)3.76565237
21True hermaphroditism (HP:0010459)3.73272543
22Increased intramyocellular lipid droplets (HP:0012240)3.69764485
23Ureteral stenosis (HP:0000071)3.63919428
24Abnormality of the axillary hair (HP:0100134)3.63298437
25Abnormality of secondary sexual hair (HP:0009888)3.63298437
26Increased muscle lipid content (HP:0009058)3.51270831
27Thoracic kyphosis (HP:0002942)3.51096032
28Nephronophthisis (HP:0000090)3.50137272
29Exertional dyspnea (HP:0002875)3.49268375
30Septo-optic dysplasia (HP:0100842)3.48060763
31Sex reversal (HP:0012245)3.46291031
32Abnormal sex determination (HP:0012244)3.46291031
33Reticulocytopenia (HP:0001896)3.39201540
34Abnormality of the prostate (HP:0008775)3.32878296
35Elevated erythrocyte sedimentation rate (HP:0003565)3.30477813
36Ureteral obstruction (HP:0006000)3.26479874
37Pancreatic cysts (HP:0001737)3.25777306
38Medial flaring of the eyebrow (HP:0010747)3.24194144
39Rib fusion (HP:0000902)3.18536102
40Obstructive lung disease (HP:0006536)3.16812095
41Chronic obstructive pulmonary disease (HP:0006510)3.16812095
42Renal Fanconi syndrome (HP:0001994)3.07600795
43Abnormality of the renal medulla (HP:0100957)3.06927569
44Abnormality of the thoracic spine (HP:0100711)2.97234628
45Gait imbalance (HP:0002141)2.91320596
46Abnormality of magnesium homeostasis (HP:0004921)2.84938636
47Congenital primary aphakia (HP:0007707)2.81935202
48Postaxial foot polydactyly (HP:0001830)2.81550587
49Chronic hepatic failure (HP:0100626)2.81117008
50Oligodactyly (HP:0012165)2.76724071
51Macrocytic anemia (HP:0001972)2.68861664
52Severe visual impairment (HP:0001141)2.68426444
53Abnormality of the aortic arch (HP:0012303)2.67907904
54Tubular atrophy (HP:0000092)2.64401423
55Nephrogenic diabetes insipidus (HP:0009806)2.63113321
56Abnormal ciliary motility (HP:0012262)2.62539597
57Cystic liver disease (HP:0006706)2.62518930
58Petechiae (HP:0000967)2.61637446
59Progressive muscle weakness (HP:0003323)2.60995003
60Abnormality of the columella (HP:0009929)2.60677610
61Aplasia/Hypoplasia of the 4th metacarpal (HP:0010042)2.57357223
62Short 4th metacarpal (HP:0010044)2.57357223
63Decreased activity of mitochondrial respiratory chain (HP:0008972)2.57049043
64Abnormal activity of mitochondrial respiratory chain (HP:0011922)2.57049043
65Microretrognathia (HP:0000308)2.54604347
66Selective tooth agenesis (HP:0001592)2.53288365
67Abnormality of the 4th metacarpal (HP:0010012)2.51872528
68Optic nerve hypoplasia (HP:0000609)2.51823685
69Pulmonary fibrosis (HP:0002206)2.51662804
70Hyperventilation (HP:0002883)2.51647714
71Renal dysplasia (HP:0000110)2.50959874
72Genital tract atresia (HP:0001827)2.50269569
73Colon cancer (HP:0003003)2.48025789
74Chest pain (HP:0100749)2.46957097
75Obstructive sleep apnea (HP:0002870)2.46868449
76Aplasia/Hypoplasia of the tongue (HP:0010295)2.46376259
77Respiratory difficulties (HP:0002880)2.46188262
78Vaginal atresia (HP:0000148)2.46051527
79Abnormality of the diencephalon (HP:0010662)2.45904221
80Abnormal respiratory motile cilium morphology (HP:0005938)2.45465331
81Abnormal respiratory epithelium morphology (HP:0012253)2.45465331
82Absent/shortened dynein arms (HP:0200106)2.45398170
83Dynein arm defect of respiratory motile cilia (HP:0012255)2.45398170
84Aplasia/Hypoplasia of the spleen (HP:0010451)2.43377555
85Capillary hemangiomas (HP:0005306)2.42701008
86Postaxial hand polydactyly (HP:0001162)2.42582019
87Hyperglycinemia (HP:0002154)2.36642529
88Aplastic anemia (HP:0001915)2.35254394
89Sclerocornea (HP:0000647)2.32889098
90IgM deficiency (HP:0002850)2.31850069
91Dicarboxylic aciduria (HP:0003215)2.31831887
92Abnormality of dicarboxylic acid metabolism (HP:0010995)2.31831887
93Asplenia (HP:0001746)2.30619952
94Polydipsia (HP:0001959)2.30479989
95Abnormal drinking behavior (HP:0030082)2.30479989
96Myositis (HP:0100614)2.30012599
97Cortical visual impairment (HP:0100704)2.29544042
98Mitochondrial inheritance (HP:0001427)2.29363193
99Congenital hepatic fibrosis (HP:0002612)2.27506136
100Generalized aminoaciduria (HP:0002909)2.25556974
101Microcytic anemia (HP:0001935)2.24430412
102Oligodactyly (hands) (HP:0001180)2.24158111
103Maternal diabetes (HP:0009800)2.22338670
104Congenital stationary night blindness (HP:0007642)2.20420180
105Abnormal respiratory motile cilium physiology (HP:0012261)2.18267958
106Abnormality of the renal cortex (HP:0011035)2.18251334
107Abnormality of the metopic suture (HP:0005556)2.16960637
108Knee flexion contracture (HP:0006380)2.16474897
109Anencephaly (HP:0002323)2.16070533
110Aplasia/Hypoplasia of the optic nerve (HP:0008058)2.15103714
111Poor coordination (HP:0002370)2.15092364
112Pachygyria (HP:0001302)2.14591297
113Supernumerary spleens (HP:0009799)2.13661053
114Abnormality of the labia minora (HP:0012880)2.12770835
115Increased serum lactate (HP:0002151)2.10567361
116Pallor (HP:0000980)2.10532864
117Retinal dysplasia (HP:0007973)2.10524961
118Fibular hypoplasia (HP:0003038)2.10264810
119Periodontitis (HP:0000704)2.09505270
120Increased CSF lactate (HP:0002490)2.08977133
121Polyuria (HP:0000103)2.08599010
122Prolonged partial thromboplastin time (HP:0003645)2.05569748
123Drooling (HP:0002307)2.04121180
124Abdominal situs inversus (HP:0003363)2.03543481
125Abnormality of abdominal situs (HP:0011620)2.03543481
126Exercise intolerance (HP:0003546)2.03366518
127Lower limb hyperreflexia (HP:0002395)2.01417381
128Anophthalmia (HP:0000528)2.00783556
129Megaloblastic anemia (HP:0001889)1.99549628
130Preaxial hand polydactyly (HP:0001177)1.97700188
131Broad foot (HP:0001769)1.97696411
132Flat occiput (HP:0005469)1.96980683
133Absent rod-and cone-mediated responses on ERG (HP:0007688)1.96795511
134Tented upper lip vermilion (HP:0010804)1.96518057
135Multiple enchondromatosis (HP:0005701)1.95998793
136Absent septum pellucidum (HP:0001331)1.95235556
137Respiratory insufficiency due to defective ciliary clearance (HP:0200073)1.94980930
138Occipital encephalocele (HP:0002085)1.93724796
139Stomatitis (HP:0010280)1.93719642
140Oral leukoplakia (HP:0002745)1.93528431
141Cutaneous finger syndactyly (HP:0010554)1.92888417
142Retinal atrophy (HP:0001105)1.91808760
143Facial hemangioma (HP:0000329)1.91667188
144Meningitis (HP:0001287)1.91268243
145Esophageal atresia (HP:0002032)1.91199920
146Split foot (HP:0001839)1.90075962
147Germ cell neoplasia (HP:0100728)1.89785878
148Glycosuria (HP:0003076)1.89723220
149Abnormality of urine glucose concentration (HP:0011016)1.89723220
150Thyroid-stimulating hormone excess (HP:0002925)1.89245730
151Adrenal hypoplasia (HP:0000835)1.88553321
152Vitreoretinal degeneration (HP:0000655)1.88219121
153Narrow forehead (HP:0000341)1.87837365
154Abnormality of the lumbar spine (HP:0100712)1.87715569
155Ectopic kidney (HP:0000086)1.87625946
156Abnormality of male internal genitalia (HP:0000022)1.84804287
157Recurrent abscess formation (HP:0002722)1.83797882
158Type II lissencephaly (HP:0007260)1.83177964
159Rectal prolapse (HP:0002035)1.83024126
160Chronic otitis media (HP:0000389)1.82560783
161Gonadal dysgenesis (HP:0000133)1.82404385
162Hyperglycinuria (HP:0003108)1.82122243
163Horizontal nystagmus (HP:0000666)1.81412101
164Tachypnea (HP:0002789)1.81061233
165Focal motor seizures (HP:0011153)1.81019837
166Renal hypoplasia (HP:0000089)1.80384651
167Excessive salivation (HP:0003781)1.78124094
168High anterior hairline (HP:0009890)1.77569516
169Cerebellar dysplasia (HP:0007033)1.76980539
170Gliosis (HP:0002171)1.76907512
171Bile duct proliferation (HP:0001408)1.76491809
172Abnormal biliary tract physiology (HP:0012439)1.76491809
173Holoprosencephaly (HP:0001360)1.76467076
174Preaxial foot polydactyly (HP:0001841)1.75960836
175Ragged-red muscle fibers (HP:0003200)1.75049495
176Gastrointestinal atresia (HP:0002589)1.72814544
177Hemoptysis (HP:0002105)1.72199735
178Hypothermia (HP:0002045)1.71298256
179Specific learning disability (HP:0001328)1.70816882
180Trigonocephaly (HP:0000243)1.70046391
181Broad thumb (HP:0011304)1.69421065
182Abnormal rod and cone electroretinograms (HP:0008323)1.69387634
183Hemiparesis (HP:0001269)1.68960530
184Premature graying of hair (HP:0002216)1.68796075
185Emotional lability (HP:0000712)1.68666038
186Abnormality of glycine metabolism (HP:0010895)1.68419391
187Abnormality of serine family amino acid metabolism (HP:0010894)1.68419391
188Respiratory distress (HP:0002098)1.68234535
189Hypoglycemic coma (HP:0001325)1.68090447
190Pancytopenia (HP:0001876)1.67955971
191Severe global developmental delay (HP:0011344)1.67639901
192Abnormality of renal resorption (HP:0011038)1.66686623
193Recurrent bacterial skin infections (HP:0005406)1.62701509
194Abnormality of the pleura (HP:0002103)1.62437331
195Reduced subcutaneous adipose tissue (HP:0003758)1.59126758
196Eosinophilia (HP:0001880)1.57516004

Predicted kinase interactions (KEA)

RankGene SetZ-score
1CAMKK24.57201259
2TNIK4.50751877
3EPHB23.90410815
4MAP4K23.33463740
5PINK13.05831404
6EIF2AK23.01743805
7FES2.98654582
8STK162.74555572
9WNK42.67661274
10WNK32.62190033
11EPHA42.55185734
12MKNK22.47113629
13CASK2.34059444
14WEE12.14407790
15MARK12.10257898
16MAPK152.09866784
17EIF2AK310.6847889
18FRK1.99835668
19SCYL21.90789580
20CDC71.89506643
21NTRK21.81337039
22STK391.79139188
23MKNK11.78479558
24IRAK41.73976367
25TEC1.73178179
26DYRK21.70159695
27CAMKK11.68657739
28FGFR21.68459414
29ZAK1.61032693
30GRK11.57755733
31MAPK131.55588026
32PRKD31.54036512
33NLK1.51155114
34PIK3CA1.50179739
35PNCK1.44494625
36IRAK31.43863184
37MAP3K41.42924915
38NUAK11.41111134
39ADRBK21.39906751
40DMPK1.34489100
41BMPR1B1.31057071
42CDK191.25588746
43VRK11.25577244
44NME21.25346629
45EIF2AK11.22452132
46BCKDK1.20139209
47PAK31.16895252
48MAP2K71.15499996
49TLK11.14170326
50MUSK1.13019534
51OXSR11.11813772
52PRKCE1.09585686
53SGK2231.08409880
54SGK4941.08409880
55INSRR1.08396857
56WNK11.06541654
57LMTK21.03721917
58BUB11.03288246
59PRPF4B1.03087537
60MAP3K121.02523454
61PKN21.02014844
62NTRK31.00286366
63MAP4K10.94158384
64KDR0.93659738
65TYRO30.92708055
66CAMK1G0.92262209
67PRKCH0.92076450
68MAP3K10.91565268
69MYLK0.89297275
70BTK0.87527423
71ERN10.85934544
72TRIM280.85120287
73MAP3K70.84850465
74KIT0.83342658
75PIM20.82776420
76CDK70.82242053
77FLT30.80009106
78PRKCG0.77497006
79SGK20.74112907
80FER0.73712934
81EEF2K0.73503144
82BCR0.72280191
83STK110.70738647
84CSNK1A1L0.70393128
85CAMK2D0.69615646
86ACVR1B0.69308272
87RPS6KA60.69186887
88CSNK1G20.69134447
89MAP2K30.68704650
90PLK20.68278627
91PAK40.67577450
92MST1R0.67065814
93PAK60.66499791
94DYRK1B0.66493127
95MAPKAPK30.66055828
96MAP2K40.64939351
97CAMK10.62788821
98CSNK1G10.61941905
99PKN10.61730818
100DAPK10.61056093
101RPS6KB20.60878679
102BLK0.60338268
103ERBB20.59971264
104TIE10.58274416
105CAMK2A0.57705080
106TAOK20.57581766
107LRRK20.57172735
108PRKACA0.57161584
109CAMK1D0.56897012
110RPS6KC10.56877139
111RPS6KL10.56877139
112SYK0.55519530
113ROCK10.55203769
114MARK20.53377135
115CDK80.52636710
116TYK20.52470666
117ADRBK10.51988825
118CAMK40.51834666
119KSR10.51457343
120CDK30.49667690
121MAP2K60.49112891
122CSNK1A10.48062401
123ATR0.47903707
124ERBB30.47785788
125LYN0.47499758
126LATS10.47422722
127PRKCZ0.45730821
128ILK0.45188939
129ABL20.43918876
130SGK10.43725191
131CSF1R0.42852848
132TGFBR10.41439455
133MAP3K80.40690153
134CSK0.40358018
135STK30.39957264
136CDK50.39908920
137RPS6KA20.39613154
138CDK11A0.39050618
139UHMK10.39002797
140OBSCN0.38995303
141PAK10.38976111
142PRKD20.38416865
143MAPK70.38295993
144RPS6KA40.37023135
145CCNB10.36252632
146CDK40.33222584
147PHKG10.32578456
148PHKG20.32578456
149PRKG20.31942232
150AURKB0.31937837
151CLK10.31803652
152ZAP700.30882977
153MAPK40.25826080
154MATK0.25747907
155HCK0.25742508
156TRIB30.25695313
157SRPK10.25429576
158CSNK2A20.23746792
159BRSK20.21754798
160AURKA0.20726131
161HIPK20.20313982
162PLK10.18603912
163CSNK2A10.18137742
164DYRK30.18092377
165LCK0.17363604
166PASK0.17339456
167YES10.17336240
168CSNK1G30.16684726
169RAF10.16044807
170MAP3K110.15833931
171TESK10.15412945
172MAPK110.14262239
173MAP3K100.13848401
174PIK3CG0.12037071
175RIPK40.11885166
176RIPK10.11534967

Predicted pathways (KEGG)

RankGene SetZ-score
1DNA replication_Homo sapiens_hsa030306.73919108
2Ribosome_Homo sapiens_hsa030104.83173043
3Mismatch repair_Homo sapiens_hsa034303.91394609
4Synthesis and degradation of ketone bodies_Homo sapiens_hsa000723.54736671
5N-Glycan biosynthesis_Homo sapiens_hsa005103.39076085
6Base excision repair_Homo sapiens_hsa034102.93912970
7Basal cell carcinoma_Homo sapiens_hsa052172.55704286
8Renin-angiotensin system_Homo sapiens_hsa046142.42474298
9Homologous recombination_Homo sapiens_hsa034402.37113688
10Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005332.34340447
11Terpenoid backbone biosynthesis_Homo sapiens_hsa009002.30473593
12Hedgehog signaling pathway_Homo sapiens_hsa043402.30069200
13Protein export_Homo sapiens_hsa030602.24422005
14Proteasome_Homo sapiens_hsa030502.23124817
15Nucleotide excision repair_Homo sapiens_hsa034202.13832647
16Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005632.12171006
17Other glycan degradation_Homo sapiens_hsa005112.11623652
18Taurine and hypotaurine metabolism_Homo sapiens_hsa004302.05340664
19Pyrimidine metabolism_Homo sapiens_hsa002402.04713581
20Phototransduction_Homo sapiens_hsa047442.00560471
21Pentose phosphate pathway_Homo sapiens_hsa000302.00509768
22Butanoate metabolism_Homo sapiens_hsa006501.96976654
23Spliceosome_Homo sapiens_hsa030401.94205493
24Steroid biosynthesis_Homo sapiens_hsa001001.90980796
25Linoleic acid metabolism_Homo sapiens_hsa005911.78405479
26Thyroid cancer_Homo sapiens_hsa052161.74299905
27Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008601.73418411
28alpha-Linolenic acid metabolism_Homo sapiens_hsa005921.73354554
29Fanconi anemia pathway_Homo sapiens_hsa034601.68909204
30One carbon pool by folate_Homo sapiens_hsa006701.59587994
31Butirosin and neomycin biosynthesis_Homo sapiens_hsa005241.53548462
32Insulin secretion_Homo sapiens_hsa049111.50556848
33Nitrogen metabolism_Homo sapiens_hsa009101.44641114
34Oxidative phosphorylation_Homo sapiens_hsa001901.42858795
35Hippo signaling pathway_Homo sapiens_hsa043901.42458404
36Axon guidance_Homo sapiens_hsa043601.41802090
37Tryptophan metabolism_Homo sapiens_hsa003801.36180999
38Neuroactive ligand-receptor interaction_Homo sapiens_hsa040801.35152788
39Nicotine addiction_Homo sapiens_hsa050331.34036048
40Peroxisome_Homo sapiens_hsa041461.29850496
41Citrate cycle (TCA cycle)_Homo sapiens_hsa000201.28316865
42Parkinsons disease_Homo sapiens_hsa050121.27800129
43Ascorbate and aldarate metabolism_Homo sapiens_hsa000531.26973817
44Cell cycle_Homo sapiens_hsa041101.23686158
45Purine metabolism_Homo sapiens_hsa002301.22754011
46Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa005321.21962543
47Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006031.21491490
48Galactose metabolism_Homo sapiens_hsa000521.20205742
49Caffeine metabolism_Homo sapiens_hsa002321.19822511
50Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006011.19010908
51Circadian rhythm_Homo sapiens_hsa047101.18053699
52Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa045501.17247875
53Biosynthesis of amino acids_Homo sapiens_hsa012301.15010410
54Glutathione metabolism_Homo sapiens_hsa004801.14587783
55Ether lipid metabolism_Homo sapiens_hsa005651.12274848
56Wnt signaling pathway_Homo sapiens_hsa043101.12013645
57Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030081.10042397
58RNA polymerase_Homo sapiens_hsa030201.08195675
59Carbon metabolism_Homo sapiens_hsa012001.07237256
60Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006301.06373773
61Circadian entrainment_Homo sapiens_hsa047131.04508373
62Vasopressin-regulated water reabsorption_Homo sapiens_hsa049621.03080304
63Cytosolic DNA-sensing pathway_Homo sapiens_hsa046231.02761823
64Glutamatergic synapse_Homo sapiens_hsa047241.02283732
65RNA degradation_Homo sapiens_hsa030181.02195495
662-Oxocarboxylic acid metabolism_Homo sapiens_hsa012100.99438854
67Notch signaling pathway_Homo sapiens_hsa043300.97037922
68RNA transport_Homo sapiens_hsa030130.95197471
69RIG-I-like receptor signaling pathway_Homo sapiens_hsa046220.94921071
70Dilated cardiomyopathy_Homo sapiens_hsa054140.94372033
71Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054100.93647239
72Glycosaminoglycan degradation_Homo sapiens_hsa005310.93551251
73Maturity onset diabetes of the young_Homo sapiens_hsa049500.93291328
74Morphine addiction_Homo sapiens_hsa050320.91991901
75Melanogenesis_Homo sapiens_hsa049160.90623623
76Cocaine addiction_Homo sapiens_hsa050300.88479804
77Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.87678889
78Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa009700.87253468
79Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005340.86966929
80Taste transduction_Homo sapiens_hsa047420.86867346
81Glycerolipid metabolism_Homo sapiens_hsa005610.86602265
82Olfactory transduction_Homo sapiens_hsa047400.84796098
83GABAergic synapse_Homo sapiens_hsa047270.84548352
84Gastric acid secretion_Homo sapiens_hsa049710.84062713
85Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054120.83635883
86Lysine degradation_Homo sapiens_hsa003100.83000568
87Systemic lupus erythematosus_Homo sapiens_hsa053220.82910799
88Cyanoamino acid metabolism_Homo sapiens_hsa004600.82372879
89Folate biosynthesis_Homo sapiens_hsa007900.81612280
90Leishmaniasis_Homo sapiens_hsa051400.80887362
91Drug metabolism - cytochrome P450_Homo sapiens_hsa009820.79074243
92Retrograde endocannabinoid signaling_Homo sapiens_hsa047230.78761414
93Glycolysis / Gluconeogenesis_Homo sapiens_hsa000100.78538674
94Huntingtons disease_Homo sapiens_hsa050160.78158603
95Dorso-ventral axis formation_Homo sapiens_hsa043200.75768165
96Non-homologous end-joining_Homo sapiens_hsa034500.74968139
97Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042610.74593064
98Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010400.74315015
99Alzheimers disease_Homo sapiens_hsa050100.73706948
100Starch and sucrose metabolism_Homo sapiens_hsa005000.72716258
101Arachidonic acid metabolism_Homo sapiens_hsa005900.72527832
102Ovarian steroidogenesis_Homo sapiens_hsa049130.72361214
103Retinol metabolism_Homo sapiens_hsa008300.72248296
104Salivary secretion_Homo sapiens_hsa049700.71628097
105Chemical carcinogenesis_Homo sapiens_hsa052040.71620460
106Fatty acid metabolism_Homo sapiens_hsa012120.71296872
107cAMP signaling pathway_Homo sapiens_hsa040240.70279366
108Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.69511969
109Primary bile acid biosynthesis_Homo sapiens_hsa001200.67903987
110Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.67446921
111Steroid hormone biosynthesis_Homo sapiens_hsa001400.65823071
112Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.65806417
113Pancreatic secretion_Homo sapiens_hsa049720.65558964
114Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005200.64323009
115Cysteine and methionine metabolism_Homo sapiens_hsa002700.64205830
116Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009800.62951962
117Oxytocin signaling pathway_Homo sapiens_hsa049210.61484520
118Basal transcription factors_Homo sapiens_hsa030220.60465018
119Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049640.60214815
120Malaria_Homo sapiens_hsa051440.59669230
121Fat digestion and absorption_Homo sapiens_hsa049750.59627653
122Cholinergic synapse_Homo sapiens_hsa047250.58563683
123Dopaminergic synapse_Homo sapiens_hsa047280.57961486
124Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.57721297
125Serotonergic synapse_Homo sapiens_hsa047260.56157120
126Drug metabolism - other enzymes_Homo sapiens_hsa009830.54136087
127Herpes simplex infection_Homo sapiens_hsa051680.53324034
128Transcriptional misregulation in cancer_Homo sapiens_hsa052020.52263338
129Amphetamine addiction_Homo sapiens_hsa050310.52023219
130Fructose and mannose metabolism_Homo sapiens_hsa000510.50899226
131p53 signaling pathway_Homo sapiens_hsa041150.50003819
132Pathogenic Escherichia coli infection_Homo sapiens_hsa051300.49916163
133Selenocompound metabolism_Homo sapiens_hsa004500.48974061
134Leukocyte transendothelial migration_Homo sapiens_hsa046700.47867128
135Metabolic pathways_Homo sapiens_hsa011000.47757880
136Calcium signaling pathway_Homo sapiens_hsa040200.47639862
137Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049320.46894933
138Osteoclast differentiation_Homo sapiens_hsa043800.41848113
139Sulfur metabolism_Homo sapiens_hsa009200.38523854
140Acute myeloid leukemia_Homo sapiens_hsa052210.38427141
141Cardiac muscle contraction_Homo sapiens_hsa042600.38229858
142Protein processing in endoplasmic reticulum_Homo sapiens_hsa041410.35472802
143Primary immunodeficiency_Homo sapiens_hsa053400.34943262
144Arginine and proline metabolism_Homo sapiens_hsa003300.34518137
145Sulfur relay system_Homo sapiens_hsa041220.33794336
146Pertussis_Homo sapiens_hsa051330.32580260
147Propanoate metabolism_Homo sapiens_hsa006400.31778566
148Natural killer cell mediated cytotoxicity_Homo sapiens_hsa046500.31694595
149beta-Alanine metabolism_Homo sapiens_hsa004100.30615995
150Fatty acid elongation_Homo sapiens_hsa000620.28261271
151Hepatitis B_Homo sapiens_hsa051610.28082436
152Salmonella infection_Homo sapiens_hsa051320.27856552
153HTLV-I infection_Homo sapiens_hsa051660.27552014
154Glycine, serine and threonine metabolism_Homo sapiens_hsa002600.27301902
155Antigen processing and presentation_Homo sapiens_hsa046120.27073396
156Legionellosis_Homo sapiens_hsa051340.26746830
157Fatty acid degradation_Homo sapiens_hsa000710.25042432
158Measles_Homo sapiens_hsa051620.22794865
159Neurotrophin signaling pathway_Homo sapiens_hsa047220.22197676
160Small cell lung cancer_Homo sapiens_hsa052220.20696782
161Aldosterone synthesis and secretion_Homo sapiens_hsa049250.20629946
162Shigellosis_Homo sapiens_hsa051310.18867261
163Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001300.18776053
164NOD-like receptor signaling pathway_Homo sapiens_hsa046210.17377373
165Chagas disease (American trypanosomiasis)_Homo sapiens_hsa051420.16918924
166Pentose and glucuronate interconversions_Homo sapiens_hsa000400.16845326
167Vitamin digestion and absorption_Homo sapiens_hsa049770.16106216
168Thyroid hormone synthesis_Homo sapiens_hsa049180.15921027
169Valine, leucine and isoleucine degradation_Homo sapiens_hsa002800.14751318
170Regulation of autophagy_Homo sapiens_hsa041400.14525136

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