HPS4

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: This gene encodes a protein component of biogenesis of lysosome-related organelles complexes (BLOC). BLOC complexes are important for the formation of endosomal-lysosomal organelles such as melanosomes and platelet dense granules. Mutations in this gene result in subtype 4 of Hermansky-Pudlak syndrome, a form of albinism. Alternative splicing results in multiple transcript variants. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1proline metabolic process (GO:0006560)8.29876482
2transcription from mitochondrial promoter (GO:0006390)7.94204761
3embryonic process involved in female pregnancy (GO:0060136)7.85849757
4replication fork processing (GO:0031297)7.28810221
5DNA deamination (GO:0045006)7.01520664
6positive regulation of protein homooligomerization (GO:0032464)6.98874630
7oxidative demethylation (GO:0070989)6.50408139
8regulation of integrin activation (GO:0033623)6.19122280
9establishment of apical/basal cell polarity (GO:0035089)6.12538318
10maintenance of fidelity involved in DNA-dependent DNA replication (GO:0045005)6.00751308
11poly(A)+ mRNA export from nucleus (GO:0016973)6.00627411
12regulation of protein homooligomerization (GO:0032462)5.88332820
13DNA strand renaturation (GO:0000733)5.58364106
14mitochondrial DNA metabolic process (GO:0032042)5.54219020
15somatic diversification of immune receptors via somatic mutation (GO:0002566)5.42219413
16somatic hypermutation of immunoglobulin genes (GO:0016446)5.42219413
17establishment of monopolar cell polarity (GO:0061162)5.26031508
18establishment or maintenance of monopolar cell polarity (GO:0061339)5.26031508
19melanin biosynthetic process (GO:0042438)5.05074841
20melanin metabolic process (GO:0006582)5.03163101
21viral mRNA export from host cell nucleus (GO:0046784)4.95292821
22cellular response to ATP (GO:0071318)4.88865435
23positive regulation by host of viral transcription (GO:0043923)4.70863688
24embryonic placenta development (GO:0001892)4.69510708
25negative regulation of cell cycle arrest (GO:0071157)4.64079192
26negative regulation of JAK-STAT cascade (GO:0046426)4.63488601
27mRNA cleavage (GO:0006379)4.60755694
28secondary metabolite biosynthetic process (GO:0044550)4.59579298
29regulation of translational fidelity (GO:0006450)4.57328633
30glutamine family amino acid biosynthetic process (GO:0009084)4.47345971
31DNA integration (GO:0015074)4.46594451
32mitotic G1 DNA damage checkpoint (GO:0031571)4.39921005
33negative regulation of mRNA splicing, via spliceosome (GO:0048025)4.14391498
34establishment of protein localization to mitochondrial membrane (GO:0090151)4.13284945
35base-excision repair (GO:0006284)4.12386831
36cellular response to zinc ion (GO:0071294)4.11362814
37positive regulation of protein oligomerization (GO:0032461)4.10399774
38spliceosomal tri-snRNP complex assembly (GO:0000244)4.07549504
39telomere maintenance via semi-conservative replication (GO:0032201)4.06501051
40negative regulation of Ras GTPase activity (GO:0034261)3.98714309
41negative regulation of protein oligomerization (GO:0032460)3.98233867
42mitotic G1/S transition checkpoint (GO:0044819)3.90811369
43formation of translation preinitiation complex (GO:0001731)3.89958221
44glial cell migration (GO:0008347)3.85783234
45nucleotide-excision repair, DNA gap filling (GO:0006297)3.82972890
46regulation of protein oligomerization (GO:0032459)3.81193279
47negative regulation of endoplasmic reticulum calcium ion concentration (GO:0032471)3.81091333
48GDP-mannose metabolic process (GO:0019673)3.75506413
49G1 DNA damage checkpoint (GO:0044783)3.75252541
50pyrimidine deoxyribonucleotide catabolic process (GO:0009223)3.73913287
51negative regulation of mRNA processing (GO:0050686)3.69227337
52termination of RNA polymerase II transcription (GO:0006369)3.65484547
53histone H3-K9 methylation (GO:0051567)3.64748424
54non-recombinational repair (GO:0000726)3.64244680
55double-strand break repair via nonhomologous end joining (GO:0006303)3.64244680
56base-excision repair, AP site formation (GO:0006285)3.62771655
57convergent extension (GO:0060026)3.62558495
58dosage compensation (GO:0007549)3.58720039
59histone H4-K12 acetylation (GO:0043983)3.55324444
60monoubiquitinated protein deubiquitination (GO:0035520)3.54156205
61negative regulation of fatty acid biosynthetic process (GO:0045717)3.53509886
62DNA demethylation (GO:0080111)3.51840423
63histone H3-K4 trimethylation (GO:0080182)3.51580864
64regulation of histone H3-K9 methylation (GO:0051570)3.48624265
65embryonic camera-type eye development (GO:0031076)3.45139633
66V(D)J recombination (GO:0033151)3.43855259
67piRNA metabolic process (GO:0034587)3.43406453
68face development (GO:0060324)3.41692794
69anatomical structure regression (GO:0060033)3.39755645
70mitochondrial RNA metabolic process (GO:0000959)3.39286684
71determination of adult lifespan (GO:0008340)3.37635363
72DNA ligation (GO:0006266)3.33132952
73negative regulation of RNA splicing (GO:0033119)3.24887263
74trophectodermal cell differentiation (GO:0001829)3.24418797
75epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)3.21310733
76apoptotic process involved in morphogenesis (GO:0060561)3.21130136
77regulation of DNA damage checkpoint (GO:2000001)3.19881683
78centriole replication (GO:0007099)3.18835526
79telomere maintenance via recombination (GO:0000722)3.18789869
80nodal signaling pathway (GO:0038092)3.16208824
81positive regulation of receptor recycling (GO:0001921)3.15841777
82regulation of cell size (GO:0008361)3.15728948
83synapsis (GO:0007129)3.15444239
84N-glycan processing (GO:0006491)3.15169969
85membrane invagination (GO:0010324)3.14481566
86DNA strand elongation involved in DNA replication (GO:0006271)3.14471425
87negative regulation of tumor necrosis factor production (GO:0032720)3.12121884
88meiotic chromosome segregation (GO:0045132)3.12032421
89labyrinthine layer development (GO:0060711)3.11976360
90DNA double-strand break processing (GO:0000729)3.10269982
91positive regulation of mitotic metaphase/anaphase transition (GO:0045842)3.09817495
92positive regulation of metaphase/anaphase transition of cell cycle (GO:1902101)3.09817495
93positive regulation of mitotic sister chromatid separation (GO:1901970)3.09817495
94DNA methylation involved in gamete generation (GO:0043046)3.09092807
95protein polyglutamylation (GO:0018095)3.07281626
96reciprocal meiotic recombination (GO:0007131)3.06590657
97reciprocal DNA recombination (GO:0035825)3.06590657
98regulation of RNA export from nucleus (GO:0046831)3.06482021
99positive regulation of DNA repair (GO:0045739)3.06406674
100histone H2A acetylation (GO:0043968)3.05223556
101peptidyl-lysine trimethylation (GO:0018023)3.05212596
102mitochondrial DNA replication (GO:0006264)3.04955836
103histone H3-K9 modification (GO:0061647)3.04433468
104negative regulation of histone methylation (GO:0031061)3.03501759
105protein targeting to vacuole (GO:0006623)3.02036641
106protein targeting to lysosome (GO:0006622)3.02036641
107establishment of protein localization to vacuole (GO:0072666)3.02036641
108positive regulation of granulocyte differentiation (GO:0030854)3.01504030
109pyrimidine nucleotide catabolic process (GO:0006244)3.00965972
110* melanocyte differentiation (GO:0030318)3.00613327
111regulation of sister chromatid cohesion (GO:0007063)3.00218494
112negative regulation of tumor necrosis factor superfamily cytokine production (GO:1903556)2.99651164
113negative regulation of mRNA metabolic process (GO:1903312)2.98402313
114mRNA polyadenylation (GO:0006378)2.98088444
115DNA strand elongation (GO:0022616)2.93929070
116DNA alkylation (GO:0006305)2.93105873
117DNA methylation (GO:0006306)2.93105873
118behavioral response to nicotine (GO:0035095)2.92817239
119synaptic vesicle endocytosis (GO:0048488)2.92810638
120regulation of DNA endoreduplication (GO:0032875)2.92525947
121regulation of podosome assembly (GO:0071801)2.92172762
122activation of Rac GTPase activity (GO:0032863)2.92029092
123peptidyl-lysine methylation (GO:0018022)2.91215620
124double-strand break repair via homologous recombination (GO:0000724)2.90153014
125recombinational repair (GO:0000725)2.89112083
126single strand break repair (GO:0000012)2.89062034
127DNA topological change (GO:0006265)2.88321192
128mRNA splice site selection (GO:0006376)2.88033082
129regulation of nuclear cell cycle DNA replication (GO:0033262)2.87256989
130resolution of meiotic recombination intermediates (GO:0000712)2.85414581
131axoneme assembly (GO:0035082)2.83587885
132negative regulation of translation, ncRNA-mediated (GO:0040033)2.83180216
133regulation of translation, ncRNA-mediated (GO:0045974)2.83180216
134negative regulation of translation involved in gene silencing by miRNA (GO:0035278)2.83180216
135sister chromatid cohesion (GO:0007062)2.79375222
136neural tube formation (GO:0001841)2.79029145
137microtubule nucleation (GO:0007020)2.75222742
138regulation of histone H3-K4 methylation (GO:0051569)2.74944915
139regulation of cilium movement (GO:0003352)2.71979859
140* neuroepithelial cell differentiation (GO:0060563)2.69274625
141regulation of telomere maintenance (GO:0032204)2.67111461
142fucose catabolic process (GO:0019317)2.66922051
143L-fucose metabolic process (GO:0042354)2.66922051
144L-fucose catabolic process (GO:0042355)2.66922051
145histone deubiquitination (GO:0016578)2.65272742
146* pigment cell differentiation (GO:0050931)2.64867648
147tyrosine metabolic process (GO:0006570)2.64327082
148positive regulation of histone H3-K4 methylation (GO:0051571)2.63239451
149histone lysine methylation (GO:0034968)2.63233009
150protein K11-linked deubiquitination (GO:0035871)2.61015957
151endosome to melanosome transport (GO:0035646)2.60723462
152endosome to pigment granule transport (GO:0043485)2.60723462
153nonmotile primary cilium assembly (GO:0035058)2.60122482
154regulation of histone methylation (GO:0031060)2.57862492
155interkinetic nuclear migration (GO:0022027)2.57517821
156response to pheromone (GO:0019236)2.56979581
157dentate gyrus development (GO:0021542)2.55564692
158histone H4-K16 acetylation (GO:0043984)2.54454354
159histone H3-K4 methylation (GO:0051568)2.53106107
160histone H4-K8 acetylation (GO:0043982)2.51599568
161histone H4-K5 acetylation (GO:0043981)2.51599568
162pigment granule organization (GO:0048753)2.51464311
163somatic diversification of immune receptors (GO:0002200)2.49937390
164cilium or flagellum-dependent cell motility (GO:0001539)2.46229074
165chromosome organization involved in meiosis (GO:0070192)2.46133767
166positive regulation of histone methylation (GO:0031062)2.45329609
167hindbrain development (GO:0030902)2.43676314
168DNA methylation or demethylation (GO:0044728)2.42590263
169male meiosis (GO:0007140)2.42101465
170regulation of microtubule-based movement (GO:0060632)2.41028250
171melanosome organization (GO:0032438)2.40480041
172developmental pigmentation (GO:0048066)2.40420335
173head development (GO:0060322)2.39775724
174somatic diversification of immune receptors via germline recombination within a single locus (GO:0002.39565108
175somatic cell DNA recombination (GO:0016444)2.39565108
176histone H4 acetylation (GO:0043967)2.37957108
177translesion synthesis (GO:0019985)2.36536022
178mitotic sister chromatid cohesion (GO:0007064)2.36033228
179Golgi to endosome transport (GO:0006895)2.35886229
180centriole assembly (GO:0098534)2.35852051
181glycerophospholipid catabolic process (GO:0046475)2.34271942
182DNA recombination (GO:0006310)2.33521242
183regulation of centriole replication (GO:0046599)2.32357151
184presynaptic membrane assembly (GO:0097105)2.31992427
185gene silencing by RNA (GO:0031047)2.31017948
186histone methylation (GO:0016571)2.30647164
187mechanosensory behavior (GO:0007638)2.29743658
188proline biosynthetic process (GO:0006561)11.1672231

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1ZNF274_21170338_ChIP-Seq_K562_Hela3.44023705
2SMAD1_18555785_ChIP-Seq_MESCs_Mouse3.18450729
3IGF1R_20145208_ChIP-Seq_DFB_Human3.17103098
4KLF2_18264089_ChIP-ChIP_MESCs_Mouse3.14948484
5KLF5_18264089_ChIP-ChIP_MESCs_Mouse3.14948484
6KLF4_18264089_ChIP-ChIP_MESCs_Mouse3.14948484
7ZFP281_18358816_ChIP-ChIP_MESCs_Mouse3.07026359
8EZH2_22144423_ChIP-Seq_EOC_Human3.05967340
9VDR_21846776_ChIP-Seq_THP-1_Human3.03924704
10HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human2.56657549
11SMAD3_22036565_ChIP-Seq_ESCs_Mouse2.54546454
12MYCN_21190229_ChIP-Seq_SHEP-21N_Human2.51838672
13TP63_19390658_ChIP-ChIP_HaCaT_Human2.46382172
14E2F4_17652178_ChIP-ChIP_JURKAT_Human2.41549362
15IRF1_19129219_ChIP-ChIP_H3396_Human2.40336335
16MYC_18555785_ChIP-Seq_MESCs_Mouse2.36003635
17LXR_22292898_ChIP-Seq_THP-1_Human2.34897420
18RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse2.33969730
19* DACH1_20351289_ChIP-Seq_MDA-MB-231_Human2.23342485
20E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse2.19701465
21SOX2_18358816_ChIP-ChIP_MESCs_Mouse2.17029722
22FUS_26573619_Chip-Seq_HEK293_Human2.15129068
23KLF4_18358816_ChIP-ChIP_MESCs_Mouse2.12511154
24EKLF_21900194_ChIP-Seq_ERYTHROCYTE_Mouse2.07088925
25NACC1_18358816_ChIP-ChIP_MESCs_Mouse2.05938004
26EWS_26573619_Chip-Seq_HEK293_Human2.04501621
27PU.1_20513432_ChIP-Seq_Bcells_Mouse2.03776230
28MYC_18358816_ChIP-ChIP_MESCs_Mouse2.01283621
29ZFP322A_24550733_ChIP-Seq_MESCs_Mouse2.01145221
30SALL1_21062744_ChIP-ChIP_HESCs_Human2.00550589
31MYC_22102868_ChIP-Seq_BL_Human2.00003536
32MYC_19079543_ChIP-ChIP_MESCs_Mouse1.99696599
33POU5F1_16518401_ChIP-PET_MESCs_Mouse1.96791913
34EST1_17652178_ChIP-ChIP_JURKAT_Human1.95740477
35CTBP2_25329375_ChIP-Seq_LNCAP_Human1.93832353
36HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse1.93106972
37NR4A2_19515692_ChIP-ChIP_MN9D_Mouse1.92906977
38NANOG_18700969_ChIP-ChIP_MESCs_Mouse1.87717712
39GBX2_23144817_ChIP-Seq_PC3_Human1.85805117
40POU3F2_20337985_ChIP-ChIP_501MEL_Human1.84987859
41SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.83020535
42EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.76735816
43VDR_23849224_ChIP-Seq_CD4+_Human1.73239209
44ERG_21242973_ChIP-ChIP_JURKAT_Human1.72052021
45TCF3_18692474_ChIP-Seq_MESCs_Mouse1.71034526
46NR0B1_18358816_ChIP-ChIP_MESCs_Mouse1.69619541
47TET1_21451524_ChIP-Seq_MESCs_Mouse1.67676047
48CTNNB1_24651522_ChIP-Seq_LGR5+_INTESTINAL_STEM_Human1.66816679
49CTBP1_25329375_ChIP-Seq_LNCAP_Human1.66735878
50RBPJ_22232070_ChIP-Seq_NCS_Mouse1.66519530
51KDM5A_27292631_Chip-Seq_BREAST_Human1.66505731
52ZFP57_27257070_Chip-Seq_ESCs_Mouse1.66080547
53KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human1.65004827
54TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.63616773
55POU5F1_26923725_Chip-Seq_MESODERM_Mouse1.63616773
56GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.61943894
57CIITA_25753668_ChIP-Seq_RAJI_Human1.61853879
58STAT3_1855785_ChIP-Seq_MESCs_Mouse1.61393316
59PU.1_20513432_ChIP-Seq_MACROPHAGES_Mouse1.60738154
60REST_21632747_ChIP-Seq_MESCs_Mouse1.57708955
61GLI1_17442700_ChIP-ChIP_MESCs_Mouse1.57515237
62FOXP3_21729870_ChIP-Seq_TREG_Human1.57181504
63* MYC_18940864_ChIP-ChIP_HL60_Human1.55895463
64AR_21572438_ChIP-Seq_LNCaP_Human1.55794117
65NANOG_21062744_ChIP-ChIP_HESCs_Human1.55422322
66TBP_23326641_ChIP-Seq_C3H10T1-2_Mouse1.54489192
67DMRT1_21621532_ChIP-ChIP_FETAL_Ovary1.54476423
68PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse1.52889476
69POU5F1_18700969_ChIP-ChIP_MESCs_Mouse1.51345260
70GABP_17652178_ChIP-ChIP_JURKAT_Human1.50976153
71MYC_19030024_ChIP-ChIP_MESCs_Mouse1.50842048
72E2F1_21310950_ChIP-Seq_MCF-7_Human1.49937046
73YY1_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.49637272
74KDM5B_21448134_ChIP-Seq_MESCs_Mouse1.49126817
75NR1H3_23393188_ChIP-Seq_ATHEROSCLEROTIC-FOAM_Human1.48682589
76* JARID1A_20064375_ChIP-Seq_MESCs_Mouse1.47972041
77FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse1.47748632
78YY1_21170310_ChIP-Seq_MESCs_Mouse1.46368324
79CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons1.44973832
80CTCF_21964334_ChIP-Seq_BJAB-B_Human1.44706725
81TCF3_18692474_ChIP-Seq_MEFs_Mouse1.44425896
82KDM2B_26808549_Chip-Seq_SUP-B15_Human1.43334461
83ER_23166858_ChIP-Seq_MCF-7_Human1.40018341
84SRY_22984422_ChIP-ChIP_TESTIS_Rat1.39902068
85CCND1_20090754_ChIP-ChIP_RETINA_Mouse1.39229970
86STAT3_23295773_ChIP-Seq_U87_Human1.39067253
87RNF2_27304074_Chip-Seq_NSC_Mouse1.38957401
88VDR_22108803_ChIP-Seq_LS180_Human1.38825961
89RXRA_24833708_ChIP-Seq_LIVER_Mouse1.37258405
90THAP11_20581084_ChIP-Seq_MESCs_Mouse1.36556511
91RCOR2_21632747_ChIP-Seq_MESCs_Mouse1.36041062
92FOXO3_22982991_ChIP-Seq_MACROPHAGES_Mouse1.35010638
93KDM2B_26808549_Chip-Seq_DND41_Human1.34488348
94SALL4_18804426_ChIP-ChIP_MESCs_Mouse1.33550005
95BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse1.32814094
96POU5F1_18692474_ChIP-Seq_MESCs_Mouse1.31657252
97BCL3_23251550_ChIP-Seq_MUSCLE_Mouse1.31445292
98KDM2B_26808549_Chip-Seq_HPB-ALL_Human1.31327841
99* E2F1_17053090_ChIP-ChIP_MCF-7_Human1.30459072
100ZFP281_18757296_ChIP-ChIP_E14_Mouse1.30387556
101KLF4_18555785_ChIP-Seq_MESCs_Mouse1.30153340
102TP53_22573176_ChIP-Seq_HFKS_Human1.29553825
103STAT1_20625510_ChIP-Seq_HELA_Human1.29466397
104PADI4_21655091_ChIP-ChIP_MCF-7_Human1.29462970
105TAF15_26573619_Chip-Seq_HEK293_Human1.29312092
106KDM2B_26808549_Chip-Seq_SIL-ALL_Human1.29002832
107ZFP281_27345836_Chip-Seq_ESCs_Mouse1.28682090
108RACK7_27058665_Chip-Seq_MCF-7_Human1.28374113
109* NANOG_18347094_ChIP-ChIP_MESCs_Mouse1.28329386
110RARB_24833708_ChIP-Seq_LIVER_Mouse1.28151576
111MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human1.28031762
112* GATA1_22383799_ChIP-Seq_G1ME_Mouse1.27747045
113CREB1_26743006_Chip-Seq_LNCaP-abl_Human1.27353266
114* EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human1.26813518
115E2A_27217539_Chip-Seq_RAMOS-Cell_line_Human1.26516667
116SPI1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.26460063
117CEBPD_23245923_ChIP-Seq_MEFs_Mouse1.26034353
118ZIC3_20872845_ChIP-ChIP_MESCs_Mouse1.25572467
119TCF4_23295773_ChIP-Seq_U87_Human1.25288851
120SCL_19346495_ChIP-Seq_HPC-7_Human1.24476230
121VDR_24763502_ChIP-Seq_THP-1_Human1.23820555
122CREB1_20920259_ChIP-Seq_GC1-SPG_Mouse1.22715600
123TCF7_22412390_ChIP-Seq_EML_Mouse1.22615569
124NANOG_18555785_ChIP-Seq_MESCs_Mouse1.22557120
125BCOR_27268052_Chip-Seq_Bcells_Human1.19532100
126REST_18959480_ChIP-ChIP_MESCs_Mouse1.19483588
127THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse1.19039466
128CBP_20019798_ChIP-Seq_JUKART_Human1.18982330
129IRF4_20064451_ChIP-Seq_CD4+T_Mouse1.18982330
130E2F7_22180533_ChIP-Seq_HELA_Human1.18774624
131ETS1_21867929_ChIP-Seq_TH2_Mouse1.18464670
132ZNF263_19887448_ChIP-Seq_K562_Human1.17964183
133TEAD4_22529382_ChIP-Seq_TROPHECTODERM_Mouse1.17649394
134E2F1_18555785_ChIP-Seq_MESCs_Mouse1.17315734
135* P300_19829295_ChIP-Seq_ESCs_Human1.17001740
136CBX2_27304074_Chip-Seq_ESCs_Mouse1.16950344
137POU5F1_18555785_ChIP-Seq_MESCs_Mouse1.16489110
138TAL1_20887958_ChIP-Seq_HPC-7_Mouse1.15958316
139NOTCH1_21737748_ChIP-Seq_TLL_Human1.15532895
140NANOG_18358816_ChIP-ChIP_MESCs_Mouse1.15490393
141YY1_22570637_ChIP-Seq_MALME-3M_Human1.15158377
142CTCF_27219007_Chip-Seq_ERYTHROID_Human1.13989093
143POU5F1_18358816_ChIP-ChIP_MESCs_Mouse1.13952509
144RARA_24833708_ChIP-Seq_LIVER_Mouse1.13929403
145FOXM1_23109430_ChIP-Seq_U2OS_Human1.13631595
146SPI1_26923725_Chip-Seq_HPCs_Mouse1.13390440
147ELK3_25401928_ChIP-Seq_HUVEC_Human1.12986145
148MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse1.12144618
149DCP1A_22483619_ChIP-Seq_HELA_Human1.12144456
150GABP_19822575_ChIP-Seq_HepG2_Human1.10332686
151SOX2_18692474_ChIP-Seq_MESCs_Mouse1.10228502
152MYCN_18555785_ChIP-Seq_MESCs_Mouse1.09305959
153BCL6_27268052_Chip-Seq_Bcells_Human1.08672627
154RUNX1_20887958_ChIP-Seq_HPC-7_Mouse1.08388289
155SA1_27219007_Chip-Seq_ERYTHROID_Human1.07896007
156PHF8_20622854_ChIP-Seq_HELA_Human1.07397767
157HCFC1_20581084_ChIP-Seq_MESCs_Mouse1.06960132
158SMAD4_21799915_ChIP-Seq_A2780_Human1.05806983
159SETDB1_19884255_ChIP-Seq_MESCs_Mouse1.05386002
160ZFP42_18358816_ChIP-ChIP_MESCs_Mouse1.04958262
161NANOG_18692474_ChIP-Seq_MESCs_Mouse1.04683754
162ETS1_20019798_ChIP-Seq_JURKAT_Human1.04065116
163CTNNB1_20615089_ChIP-ChIP_FETAL_BRAIN_Human1.02776686
164PKCTHETA_26484144_Chip-Seq_BREAST_Human1.02174340
165CNOT3_19339689_ChIP-ChIP_MESCs_Mouse1.01673772
166CTCF_26484167_Chip-Seq_Bcells_Mouse1.01369546
167CEBPB_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.01116703
168SPI1_22096565_ChIP-ChIP_GC-B_Mouse1.01067771
169WDR5_24793694_ChIP-Seq_LNCAP_Human1.01066481
170POU5F1_16153702_ChIP-ChIP_HESCs_Human1.01000999
171OCT4_18692474_ChIP-Seq_MEFs_Mouse1.00789666
172PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse1.00409110
173GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse0.99455930
174SRF_21415370_ChIP-Seq_HL-1_Mouse0.99275239
175ELK1_19687146_ChIP-ChIP_HELA_Human0.98977235
176AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human0.98650382
177UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human0.96388389
178FLI1_27457419_Chip-Seq_LIVER_Mouse0.95337358
179ETV2_25802403_ChIP-Seq_MESCs_Mouse0.94874968
180FOXM1_26100407_CHIP-SEQ_Hek293_flp-in_Human0.94129885
181AR_25329375_ChIP-Seq_VCAP_Human0.93514501
182SOX9_26525672_Chip-Seq_HEART_Mouse0.93484901
183E2F4_21247883_ChIP-Seq_LYMPHOBLASTOID_Human0.93366108
184TTF2_22483619_ChIP-Seq_HELA_Human0.92763049
185BCAT_22108803_ChIP-Seq_LS180_Human0.92590690
186NCOR_22424771_ChIP-Seq_293T_Human0.92409813
187SMAD3_21741376_ChIP-Seq_EPCs_Human0.87801033
188SOX2_16153702_ChIP-ChIP_HESCs_Human0.87683003
189RUNX2_22187159_ChIP-Seq_PCA_Human0.87532849
190MYBL2_22936984_ChIP-ChIP_MESCs_Mouse0.85076613
191TOP2B_26459242_ChIP-Seq_MCF-7_Human0.83454449
192SOX2_21211035_ChIP-Seq_LN229_Gbm0.81101691
193FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human0.79545323

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0008057_abnormal_DNA_replication6.16736130
2MP0009278_abnormal_bone_marrow4.83851634
3MP0003136_yellow_coat_color4.46941083
4MP0000372_irregular_coat_pigmentation4.46265703
5MP0005171_absent_coat_pigmentation4.21108787
6MP0010030_abnormal_orbit_morphology3.50844097
7MP0002653_abnormal_ependyma_morphology3.15150922
8MP0004233_abnormal_muscle_weight3.08934210
9MP0005174_abnormal_tail_pigmentation3.02169877
10MP0000569_abnormal_digit_pigmentation2.97070622
11MP0002009_preneoplasia2.94077451
12MP0008995_early_reproductive_senescence2.68508142
13* MP0005075_abnormal_melanosome_morpholog2.65880086
14* MP0002095_abnormal_skin_pigmentation2.62139705
15MP0001545_abnormal_hematopoietic_system2.59244678
16MP0005397_hematopoietic_system_phenotyp2.59244678
17MP0003890_abnormal_embryonic-extraembry2.56626050
18MP0004133_heterotaxia2.39583792
19MP0010094_abnormal_chromosome_stability2.35932410
20MP0006072_abnormal_retinal_apoptosis2.32447527
21MP0005058_abnormal_lysosome_morphology2.21947317
22MP0006082_CNS_inflammation2.20952863
23MP0003787_abnormal_imprinting2.16556994
24* MP0000015_abnormal_ear_pigmentation2.06706677
25MP0004381_abnormal_hair_follicle2.06281948
26MP0001984_abnormal_olfaction2.01289959
27MP0003283_abnormal_digestive_organ1.97670900
28MP0006292_abnormal_olfactory_placode1.96731035
29MP0008058_abnormal_DNA_repair1.91563682
30MP0004147_increased_porphyrin_level1.88076012
31MP0002638_abnormal_pupillary_reflex1.88002095
32MP0003119_abnormal_digestive_system1.83349183
33MP0002249_abnormal_larynx_morphology1.77209425
34MP0003786_premature_aging1.73881183
35MP0005408_hypopigmentation1.72822564
36MP0000490_abnormal_crypts_of1.68810793
37MP0002396_abnormal_hematopoietic_system1.66352132
38MP0003453_abnormal_keratinocyte_physiol1.65032446
39MP0002102_abnormal_ear_morphology1.63573858
40MP0008877_abnormal_DNA_methylation1.62497821
41MP0000685_abnormal_immune_system1.62236602
42MP0001293_anophthalmia1.61711210
43MP0002282_abnormal_trachea_morphology1.61486527
44MP0000631_abnormal_neuroendocrine_gland1.61443228
45MP0009046_muscle_twitch1.58095020
46MP0000462_abnormal_digestive_system1.58072161
47MP0000778_abnormal_nervous_system1.53219677
48MP0005646_abnormal_pituitary_gland1.50477880
49MP0000470_abnormal_stomach_morphology1.40321164
50MP0001529_abnormal_vocalization1.40200207
51MP0001188_hyperpigmentation1.39936566
52MP0003121_genomic_imprinting1.39169010
53MP0005076_abnormal_cell_differentiation1.35935880
54MP0004957_abnormal_blastocyst_morpholog1.35889065
55MP0000579_abnormal_nail_morphology1.35049430
56MP0002086_abnormal_extraembryonic_tissu1.34892041
57MP0001697_abnormal_embryo_size1.31972626
58MP0002405_respiratory_system_inflammati1.31394813
59MP0002084_abnormal_developmental_patter1.30404857
60MP0005551_abnormal_eye_electrophysiolog1.29293123
61MP0000639_abnormal_adrenal_gland1.28971004
62MP0004264_abnormal_extraembryonic_tissu1.28477288
63MP0002837_dystrophic_cardiac_calcinosis1.27685084
64MP0005645_abnormal_hypothalamus_physiol1.24663282
65MP0008932_abnormal_embryonic_tissue1.24023451
66MP0003122_maternal_imprinting1.23477850
67MP0003045_fibrosis1.19855195
68MP0003698_abnormal_male_reproductive1.19629638
69MP0004885_abnormal_endolymph1.17657740
70MP0002210_abnormal_sex_determination1.17043199
71MP0002085_abnormal_embryonic_tissue1.16166410
72MP0003077_abnormal_cell_cycle1.14943061
73MP0003111_abnormal_nucleus_morphology1.14665942
74MP0002751_abnormal_autonomic_nervous1.14469069
75MP0010352_gastrointestinal_tract_polyps1.13780144
76MP0002557_abnormal_social/conspecific_i1.13520576
77MP0003880_abnormal_central_pattern1.13435208
78MP0005085_abnormal_gallbladder_physiolo1.09700194
79MP0002272_abnormal_nervous_system1.07405493
80MP0003693_abnormal_embryo_hatching1.07313192
81* MP0001186_pigmentation_phenotype1.07018829
82MP0005394_taste/olfaction_phenotype1.06490698
83MP0005499_abnormal_olfactory_system1.06490698
84MP0003567_abnormal_fetal_cardiomyocyte1.06215137
85MP0010307_abnormal_tumor_latency1.05002095
86MP0009745_abnormal_behavioral_response1.04814059
87MP0008007_abnormal_cellular_replicative1.03838991
88MP0002064_seizures1.03789896
89MP0006276_abnormal_autonomic_nervous1.03718960
90MP0004197_abnormal_fetal_growth/weight/1.03582685
91MP0005365_abnormal_bile_salt1.03075656
92MP0001340_abnormal_eyelid_morphology1.02954071
93MP0001486_abnormal_startle_reflex1.00173041
94MP0003191_abnormal_cellular_cholesterol0.99843006
95MP0001986_abnormal_taste_sensitivity0.99696131
96MP0003635_abnormal_synaptic_transmissio0.99197388
97MP0002019_abnormal_tumor_incidence0.97751317
98MP0002572_abnormal_emotion/affect_behav0.97650401
99MP0002269_muscular_atrophy0.97415872
100MP0002063_abnormal_learning/memory/cond0.97021397
101MP0002160_abnormal_reproductive_system0.96532127
102MP0003718_maternal_effect0.96235848
103MP0009115_abnormal_fat_cell0.96179488
104MP0000350_abnormal_cell_proliferation0.95971035
105MP0000689_abnormal_spleen_morphology0.95717593
106MP0001502_abnormal_circadian_rhythm0.94344617
107MP0009333_abnormal_splenocyte_physiolog0.93739935
108MP0000653_abnormal_sex_gland0.92280204
109MP0004924_abnormal_behavior0.92221195
110MP0005386_behavior/neurological_phenoty0.92221195
111MP0005380_embryogenesis_phenotype0.91684563
112MP0001672_abnormal_embryogenesis/_devel0.91684563
113MP0005220_abnormal_exocrine_pancreas0.91205067
114MP0002111_abnormal_tail_morphology0.86957798
115MP0000313_abnormal_cell_death0.85653876
116MP0001873_stomach_inflammation0.85330508
117MP0004142_abnormal_muscle_tone0.84915890
118MP0000955_abnormal_spinal_cord0.84252603
119MP0003861_abnormal_nervous_system0.84162609
120MP0008789_abnormal_olfactory_epithelium0.83773341
121MP0002060_abnormal_skin_morphology0.82450596
122MP0005410_abnormal_fertilization0.81715709
123MP0002080_prenatal_lethality0.80606601
124MP0002822_catalepsy0.79525596
125MP0001968_abnormal_touch/_nociception0.79364787
126MP0003075_altered_response_to0.78747623
127MP0002163_abnormal_gland_morphology0.78210647
128MP0005379_endocrine/exocrine_gland_phen0.77805915
129MP0002067_abnormal_sensory_capabilities0.77729486
130MP0002152_abnormal_brain_morphology0.77598671
131MP0003656_abnormal_erythrocyte_physiolo0.77339196
132MP0002909_abnormal_adrenal_gland0.77054925
133MP0002882_abnormal_neuron_morphology0.76623726
134MP0001501_abnormal_sleep_pattern0.76553154
135MP0004859_abnormal_synaptic_plasticity0.75851664
136MP0005423_abnormal_somatic_nervous0.75198108
137MP0002932_abnormal_joint_morphology0.74695116
138MP0001145_abnormal_male_reproductive0.74614054
139MP0002184_abnormal_innervation0.74129713
140MP0001730_embryonic_growth_arrest0.73972533
141MP0001929_abnormal_gametogenesis0.73035557
142MP0002229_neurodegeneration0.72867859
143MP0001485_abnormal_pinna_reflex0.72649769
144MP0002796_impaired_skin_barrier0.72418325
145MP0000383_abnormal_hair_follicle0.72364508
146MP0004808_abnormal_hematopoietic_stem0.71901421
147MP0002938_white_spotting0.71775105
148MP0002928_abnormal_bile_duct0.71221439
149MP0005670_abnormal_white_adipose0.71109659
150MP0001270_distended_abdomen0.70667958
151MP0005391_vision/eye_phenotype0.70488634
152* MP0003172_abnormal_lysosome_physiology0.70106403
153MP0005253_abnormal_eye_physiology0.69460670
154MP0000703_abnormal_thymus_morphology0.69180042
155MP0005266_abnormal_metabolism0.69178798
156MP0002722_abnormal_immune_system0.68951138
157MP0000477_abnormal_intestine_morphology0.68866844
158* MP0001324_abnormal_eye_pigmentation0.67443474
159MP0000762_abnormal_tongue_morphology0.67299660
160MP0003828_pulmonary_edema0.66563213
161* MP0002398_abnormal_bone_marrow0.66232260
162MP0002166_altered_tumor_susceptibility0.66091991
163MP0003763_abnormal_thymus_physiology0.64730805
164* MP0000371_diluted_coat_color0.64535007
165MP0003984_embryonic_growth_retardation0.64345008
166MP0003943_abnormal_hepatobiliary_system0.61633989
167MP0002114_abnormal_axial_skeleton0.60751182
168MP0002088_abnormal_embryonic_growth/wei0.60702508
169* MP0002075_abnormal_coat/hair_pigmentati0.60281475
170MP0004019_abnormal_vitamin_homeostasis0.60097869
171MP0002970_abnormal_white_adipose0.57352206
172MP0003866_abnormal_defecation0.57295500

Predicted human phenotypes

RankGene SetZ-score
1Rectal fistula (HP:0100590)5.90757501
2Rectovaginal fistula (HP:0000143)5.90757501
3Intestinal fistula (HP:0100819)5.56421727
4Rib fusion (HP:0000902)5.40671799
5Vaginal fistula (HP:0004320)5.25428381
6Concave nail (HP:0001598)4.99363230
7Pustule (HP:0200039)4.82840895
8Orthostatic hypotension (HP:0001278)4.67438889
9Poikiloderma (HP:0001029)4.66530376
10Intestinal atresia (HP:0011100)4.64645026
11Annular pancreas (HP:0001734)4.62712414
12Facial hemangioma (HP:0000329)4.45596167
13Hypochromic microcytic anemia (HP:0004840)4.17455807
14Turricephaly (HP:0000262)4.15300192
15Increased IgM level (HP:0003496)4.14362527
16Alopecia of scalp (HP:0002293)3.86482285
17Aplasia/Hypoplasia involving the carpal bones (HP:0006502)3.73419586
18Tongue fasciculations (HP:0001308)3.56355227
19Dysostosis multiplex (HP:0000943)3.55260453
20Mucopolysacchariduria (HP:0008155)3.54963222
21Urinary glycosaminoglycan excretion (HP:0003541)3.54963222
22Ulnar bowing (HP:0003031)3.52770462
23Male infertility (HP:0003251)3.52441795
24Anteriorly placed anus (HP:0001545)3.52357841
25Premature skin wrinkling (HP:0100678)3.45929084
26Abnormal hemoglobin (HP:0011902)3.34678600
27Short humerus (HP:0005792)3.32771674
28Dysautonomia (HP:0002459)3.29435610
29Abnormality of polysaccharide metabolism (HP:0011012)3.26209719
30Abnormality of glycosaminoglycan metabolism (HP:0004371)3.26209719
31Abnormality of mucopolysaccharide metabolism (HP:0011020)3.26209719
32Aplasia/hypoplasia of the humerus (HP:0006507)3.20318491
33Nephronophthisis (HP:0000090)3.18709160
34Abnormality of male internal genitalia (HP:0000022)3.17102733
35Squamous cell carcinoma (HP:0002860)3.16005865
36Aplasia/Hypoplasia of the vertebrae (HP:0008515)3.12587511
37Vertebral hypoplasia (HP:0008417)3.12587511
38Muscle fibrillation (HP:0010546)3.11336164
39Coronal craniosynostosis (HP:0004440)3.07501352
40Absent thumb (HP:0009777)3.05916870
41Alacrima (HP:0000522)3.05899031
42Panhypogammaglobulinemia (HP:0003139)3.04531175
43Blue irides (HP:0000635)3.02453590
44Pancreatic cysts (HP:0001737)3.00004731
45Cerebral aneurysm (HP:0004944)2.96042774
46Basal cell carcinoma (HP:0002671)2.94576420
47Clumsiness (HP:0002312)2.93663966
48Absent radius (HP:0003974)2.93463826
49Pancreatic fibrosis (HP:0100732)2.87415657
50Broad alveolar ridges (HP:0000187)2.84560155
51Aplasia involving forearm bones (HP:0009822)2.83128095
52Absent forearm bone (HP:0003953)2.83128095
53Congenital hip dislocation (HP:0001374)2.78769301
54Pancreatic islet-cell hyperplasia (HP:0004510)2.74944110
55Neoplasm of the adrenal cortex (HP:0100641)2.74612913
56Bifid uvula (HP:0000193)2.73182602
57Short chin (HP:0000331)2.72213859
58True hermaphroditism (HP:0010459)2.70920050
59Joint stiffness (HP:0001387)2.70743459
60Abnormality of the renal medulla (HP:0100957)2.70042125
61Abnormality of the aortic arch (HP:0012303)2.68403354
62Gastrointestinal atresia (HP:0002589)2.68155393
63Volvulus (HP:0002580)2.63402828
64Polycythemia (HP:0001901)2.59455694
65Large for gestational age (HP:0001520)2.58360014
66Colitis (HP:0002583)2.58088019
67Molar tooth sign on MRI (HP:0002419)2.57904479
68Abnormality of midbrain morphology (HP:0002418)2.57904479
69Ectopic kidney (HP:0000086)2.56716711
70Premature graying of hair (HP:0002216)2.54430971
71Growth hormone excess (HP:0000845)2.53334417
72Hypotelorism (HP:0000601)2.52720963
73Aplasia/Hypoplasia of the fovea (HP:0008060)2.50533883
74Hypoplasia of the fovea (HP:0007750)2.50533883
75Hamartoma (HP:0010566)2.48630211
76Medial flaring of the eyebrow (HP:0010747)2.47596191
77Abnormality of the labia minora (HP:0012880)2.46659224
78Chromsome breakage (HP:0040012)2.45732036
79Acute lymphatic leukemia (HP:0006721)2.45679897
80Hypokinesia (HP:0002375)2.45500658
81Hypotrichosis (HP:0001006)2.44438290
82Cheilitis (HP:0100825)2.44434489
83Hyperventilation (HP:0002883)2.43682841
84Chromosomal breakage induced by crosslinking agents (HP:0003221)2.36824930
85Neoplasm of the oral cavity (HP:0100649)2.35957277
86Chronic hepatic failure (HP:0100626)2.35380044
87White forelock (HP:0002211)2.34641818
88Cystic liver disease (HP:0006706)2.31854883
89Severe combined immunodeficiency (HP:0004430)2.30311132
90Patellar aplasia (HP:0006443)2.27058646
91* Ocular albinism (HP:0001107)2.26259916
92Exertional dyspnea (HP:0002875)2.24988838
93Diaphragmatic weakness (HP:0009113)2.24729574
94Decreased lacrimation (HP:0000633)2.24220297
95Hypoplasia of the radius (HP:0002984)2.23573856
96Redundant skin (HP:0001582)2.23017765
97Hypochromic anemia (HP:0001931)2.22602312
98Aplasia/Hypoplasia of the uvula (HP:0010293)2.22138827
99Abnormality of the fovea (HP:0000493)2.21304685
100* Iris hypopigmentation (HP:0007730)2.20950849
101Abnormality of the heme biosynthetic pathway (HP:0010472)2.20681578
102Optic nerve coloboma (HP:0000588)2.18803774
103Abnormal respiratory motile cilium morphology (HP:0005938)2.18552390
104Abnormal respiratory epithelium morphology (HP:0012253)2.18552390
105Gaze-evoked nystagmus (HP:0000640)2.17862591
106Split hand (HP:0001171)2.13794381
107IgA deficiency (HP:0002720)2.13010245
108Selective tooth agenesis (HP:0001592)2.12997864
109Vertebral fusion (HP:0002948)2.11557035
110Aplasia of the musculature (HP:0100854)2.11205854
111Drooling (HP:0002307)2.09497730
112Choanal stenosis (HP:0000452)2.09176387
113Congenital stationary night blindness (HP:0007642)2.08025245
114Colon cancer (HP:0003003)2.07304136
115Progressive neurologic deterioration (HP:0002344)2.07131818
116Gait imbalance (HP:0002141)2.06569365
117Asymmetric septal hypertrophy (HP:0001670)2.06402140
118Muscle fiber atrophy (HP:0100295)2.06136255
119Abnormality of chromosome stability (HP:0003220)2.05017537
120Aplasia/Hypoplasia of the patella (HP:0006498)2.04839330
121Amniotic constriction ring (HP:0009775)2.04054652
122Abnormality of placental membranes (HP:0011409)2.04054652
123Progressive cerebellar ataxia (HP:0002073)2.04029164
124Congenital primary aphakia (HP:0007707)2.03928701
125Tented upper lip vermilion (HP:0010804)2.03788287
126Patchy hypopigmentation of hair (HP:0011365)2.03712142
127Peripheral hypomyelination (HP:0007182)2.03366573
128Birth length less than 3rd percentile (HP:0003561)2.02068767
129Abnormality of B cell number (HP:0010975)2.01760490
130Thyroiditis (HP:0100646)2.01668977
131Urethral obstruction (HP:0000796)2.01492259
132Amelogenesis imperfecta (HP:0000705)2.00733308
133Tubulointerstitial nephritis (HP:0001970)1.99461522
134Popliteal pterygium (HP:0009756)1.99031689
135Type 2 muscle fiber atrophy (HP:0003554)1.98903731
136Abnormal autonomic nervous system physiology (HP:0012332)1.98468257
137Spinal muscular atrophy (HP:0007269)1.96094143
138Atrophy/Degeneration involving the corticospinal tracts (HP:0007372)1.95784625
139Degeneration of the lateral corticospinal tracts (HP:0002314)1.95784625
140Type II lissencephaly (HP:0007260)1.95501021
141Absent speech (HP:0001344)1.95409064
142Widely spaced teeth (HP:0000687)1.94993498
143Genetic anticipation (HP:0003743)1.94884417
144B lymphocytopenia (HP:0010976)1.93814524
145Poor coordination (HP:0002370)1.92493522
146Inflammation of the large intestine (HP:0002037)1.92491704
147Aplasia/Hypoplasia of the macula (HP:0008059)1.92253505
148Cerebellar dysplasia (HP:0007033)1.91983056
149Sloping forehead (HP:0000340)1.91571029
150Abnormality of the renal cortex (HP:0011035)1.91509810
151Febrile seizures (HP:0002373)1.91276244
152Polydipsia (HP:0001959)1.90778177
153Abnormal drinking behavior (HP:0030082)1.90778177
154Abnormality of the astrocytes (HP:0100707)1.90754568
155Astrocytoma (HP:0009592)1.90754568
156Duplicated collecting system (HP:0000081)1.90000767
157Abnormal number of incisors (HP:0011064)1.89929442
158Combined immunodeficiency (HP:0005387)1.89844302
159Hypopigmentation of the fundus (HP:0007894)1.88774887
160Gastrointestinal inflammation (HP:0004386)1.88297416
161Nephrogenic diabetes insipidus (HP:0009806)1.87894284
162Abnormality of the metopic suture (HP:0005556)1.87124668
163Epileptic encephalopathy (HP:0200134)1.86941587
164Clubbing of toes (HP:0100760)1.86939969
165Protruding tongue (HP:0010808)1.85450177
166Excessive salivation (HP:0003781)1.84393203
167Astigmatism (HP:0000483)1.83725945
168Abnormality of the ileum (HP:0001549)1.82386277
169Broad-based gait (HP:0002136)1.82189291
170Generalized hypopigmentation of hair (HP:0011358)1.81201790
171Abnormality of the renal collecting system (HP:0004742)1.81007315
172Abnormal number of erythroid precursors (HP:0012131)1.78900478
173Lissencephaly (HP:0001339)1.78454279
174Attenuation of retinal blood vessels (HP:0007843)1.77704260
175Morphological abnormality of the inner ear (HP:0011390)1.76776653
176Meckel diverticulum (HP:0002245)1.74883277
177Highly arched eyebrow (HP:0002553)1.74698032
178Prominent nasal bridge (HP:0000426)1.74558676
179Aplasia/Hypoplasia affecting the retina (HP:0008061)1.71698680
180Inability to walk (HP:0002540)1.70168258
181Aganglionic megacolon (HP:0002251)1.67349212
182Dandy-Walker malformation (HP:0001305)1.67063900
183Hypoplasia of the thymus (HP:0000778)1.66104068
184Tachypnea (HP:0002789)1.65307961
185Ependymoma (HP:0002888)1.64917946
186Abnormality of DNA repair (HP:0003254)1.64652003
187Megalencephaly (HP:0001355)1.63452729
188Prominent metopic ridge (HP:0005487)1.62194474
189Narrow forehead (HP:0000341)1.61572822
190Hypsarrhythmia (HP:0002521)1.60156236
191Oligodactyly (hands) (HP:0001180)1.60009945
192Preaxial hand polydactyly (HP:0001177)1.59608503

Predicted kinase interactions (KEA)

RankGene SetZ-score
1MAPK156.47339330
2ICK6.38849395
3MAP3K64.48501326
4FRK4.35213698
5DDR24.28742908
6MAP3K113.28992311
7MATK3.13498899
8PINK12.86516694
9FGR2.84033832
10TYRO32.77948987
11PNCK2.51536818
12DAPK12.41662975
13MAP3K42.37654908
14UHMK12.36812617
15BMPR1B2.33819546
16ZAK2.33793905
17PIM22.30278797
18CSK2.29201214
19NTRK32.25489851
20MAP4K22.24343461
21YES12.19652274
22PRKD22.17011152
23DYRK1B2.03442403
24WEE11.88451923
25WNK31.76750712
26CDK71.70364460
27MAPK131.68902250
28TAOK31.61548277
29TLK11.57844878
30PDGFRA1.57716302
31BMX1.56959226
32PLK41.56774209
33NUAK11.55828587
34MAP2K71.54462389
35CASK1.52876206
36MKNK21.51122696
37FGFR21.47435437
38CAMK1G1.42082594
39TRPM71.31324601
40PIM11.27669645
41BRD41.27021611
42MARK11.26600058
43RPS6KC11.25991322
44RPS6KL11.25991322
45AKT31.25468395
46MAP3K101.22121205
47CDC42BPA1.21816350
48TGFBR21.21450110
49VRK11.14854956
50BRSK21.14630513
51INSRR1.14190695
52CDK61.12459594
53MKNK11.10211121
54DYRK31.09757712
55RPS6KA61.09720785
56ADRBK21.09047405
57WNK41.08218238
58MAPK111.05256181
59SGK21.05167070
60ACVR1B1.04904182
61GSK3A1.04792131
62GRK11.00749258
63CDC70.99639691
64CSNK1G20.95980713
65NLK0.91731890
66CDK30.91520844
67EIF2AK30.91346204
68CSNK1G30.90762874
69MAP4K10.89123590
70CHEK20.88594963
71MAP3K90.86892332
72TRIM280.85340637
73HIPK20.84622111
74RPS6KB20.79949830
75CSNK1A1L0.77646835
76DYRK1A0.76782067
77CSNK1D0.76366308
78MAPKAPK30.75251986
79MAP3K20.74985183
80MARK30.73938242
81CDK90.73865667
82SGK2230.73699847
83SGK4940.73699847
84TEC0.73422252
85MTOR0.71650568
86LYN0.69675272
87PHKG20.69196610
88PHKG10.69196610
89MAP3K70.68291258
90MAPKAPK50.67851894
91ERBB20.67256896
92TGFBR10.66440614
93RPS6KA10.64822738
94CDK40.63548730
95MAP2K40.62788308
96FLT30.62708055
97WNK10.62383314
98PRKDC0.61642315
99PLK10.61614825
100PDK20.61140475
101CAMK1D0.59701171
102RAF10.59570439
103ATR0.56448380
104PKN10.55768184
105LATS20.54732612
106PLK20.53614412
107PRKAA10.53475604
108CDK190.51995178
109ERBB30.51858863
110RPS6KA50.51433884
111EIF2AK10.50734556
112MAPK40.49682034
113SIK20.49018667
114STK110.48248500
115KIT0.47658216
116EGFR0.47502600
117CSF1R0.46450935
118TTK0.45934657
119PAK20.45323625
120NEK20.44647306
121PRKCG0.44406196
122PASK0.44183218
123CSNK1E0.42942501
124RPS6KB10.42754152
125MAPK30.40349004
126LCK0.39840443
127CSNK2A10.39609557
128PAK40.39343260
129CDK20.39004547
130MAPKAPK20.37261225
131CSNK1G10.36670159
132EEF2K0.34588604
133IKBKB0.34219829
134MAPK10.32174850
135CSNK2A20.32145879
136STK100.31814121
137PDGFRB0.29927925
138MAPK140.29816803
139TNK20.29444373
140CAMK2B0.28785744
141MARK20.28227002
142INSR0.27473111
143PRKAA20.27100064
144TAOK20.26639767
145MAPK100.24784653
146PRKCZ0.24008284
147DYRK20.23698697
148ATM0.23227122
149PTK20.22923042
150NTRK20.22593236
151CHEK10.21602473
152AURKA0.20457006
153CAMK2G0.19869858
154CDK80.19343906
155PRKD10.19182720
156PRKCD0.18597485
157GRK70.18450725
158CDK120.18311329
159ZAP700.18087095
160JAK20.16705530
161CDK10.16193685
162BTK0.16112758
163BCKDK0.14116202
164AKT10.13935418
165TAOK10.13610640
166GSK3B0.13324785
167EPHA20.12988877
168ABL10.12713039

Predicted pathways (KEGG)

RankGene SetZ-score
1Mismatch repair_Homo sapiens_hsa034305.38438393
2Fatty acid biosynthesis_Homo sapiens_hsa000615.11697128
3Base excision repair_Homo sapiens_hsa034104.89205044
4DNA replication_Homo sapiens_hsa030303.99517397
5Non-homologous end-joining_Homo sapiens_hsa034503.47135001
6Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005332.70949913
7Notch signaling pathway_Homo sapiens_hsa043302.55893573
8Selenocompound metabolism_Homo sapiens_hsa004502.38074202
9Taurine and hypotaurine metabolism_Homo sapiens_hsa004302.21557032
10Spliceosome_Homo sapiens_hsa030402.21101710
11Nucleotide excision repair_Homo sapiens_hsa034202.17031844
12Homologous recombination_Homo sapiens_hsa034402.03753768
13Glycosaminoglycan degradation_Homo sapiens_hsa005312.01750785
14mRNA surveillance pathway_Homo sapiens_hsa030151.97554770
15Sulfur relay system_Homo sapiens_hsa041221.96137662
16Nicotine addiction_Homo sapiens_hsa050331.94304898
17Maturity onset diabetes of the young_Homo sapiens_hsa049501.90084423
18Fanconi anemia pathway_Homo sapiens_hsa034601.88393965
19Ribosome_Homo sapiens_hsa030101.87765965
20mTOR signaling pathway_Homo sapiens_hsa041501.87204281
21Regulation of autophagy_Homo sapiens_hsa041401.81972808
22Butanoate metabolism_Homo sapiens_hsa006501.80725727
23Circadian rhythm_Homo sapiens_hsa047101.80138858
24Hedgehog signaling pathway_Homo sapiens_hsa043401.79942458
25Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030081.79288458
26Arginine and proline metabolism_Homo sapiens_hsa003301.76969804
27RNA transport_Homo sapiens_hsa030131.72509330
28Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006011.71776288
29Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005201.67422744
30Phototransduction_Homo sapiens_hsa047441.56062682
31Transcriptional misregulation in cancer_Homo sapiens_hsa052021.50758547
32Folate biosynthesis_Homo sapiens_hsa007901.50603609
33Nitrogen metabolism_Homo sapiens_hsa009101.47531134
34Hippo signaling pathway_Homo sapiens_hsa043901.42023003
35Taste transduction_Homo sapiens_hsa047421.35911549
36Progesterone-mediated oocyte maturation_Homo sapiens_hsa049141.34078245
37Synthesis and degradation of ketone bodies_Homo sapiens_hsa000721.25271057
38Primary immunodeficiency_Homo sapiens_hsa053401.23866897
39Alcoholism_Homo sapiens_hsa050341.23132254
40Adherens junction_Homo sapiens_hsa045201.21092677
41Fatty acid metabolism_Homo sapiens_hsa012121.20454142
42Biosynthesis of amino acids_Homo sapiens_hsa012301.20304139
43Lysine degradation_Homo sapiens_hsa003101.20197774
44Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa009701.20036981
45Longevity regulating pathway - mammal_Homo sapiens_hsa042111.19153662
46Neuroactive ligand-receptor interaction_Homo sapiens_hsa040801.18865963
47Other types of O-glycan biosynthesis_Homo sapiens_hsa005141.16781230
48Ether lipid metabolism_Homo sapiens_hsa005651.16162777
49p53 signaling pathway_Homo sapiens_hsa041151.13785688
50VEGF signaling pathway_Homo sapiens_hsa043701.13469881
51Fructose and mannose metabolism_Homo sapiens_hsa000511.11534955
52Insulin secretion_Homo sapiens_hsa049111.09382625
53Shigellosis_Homo sapiens_hsa051311.09032581
54Retrograde endocannabinoid signaling_Homo sapiens_hsa047231.07067822
55B cell receptor signaling pathway_Homo sapiens_hsa046621.04922128
56alpha-Linolenic acid metabolism_Homo sapiens_hsa005921.00519258
57GABAergic synapse_Homo sapiens_hsa047270.99943390
58Morphine addiction_Homo sapiens_hsa050320.99549066
59Basal cell carcinoma_Homo sapiens_hsa052170.99520825
60Colorectal cancer_Homo sapiens_hsa052100.98948484
61Wnt signaling pathway_Homo sapiens_hsa043100.98903082
62Glutamatergic synapse_Homo sapiens_hsa047240.97548157
63TGF-beta signaling pathway_Homo sapiens_hsa043500.95395491
64Circadian entrainment_Homo sapiens_hsa047130.93323468
65Protein export_Homo sapiens_hsa030600.91723053
66Linoleic acid metabolism_Homo sapiens_hsa005910.91167584
67Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001300.90361871
68Bladder cancer_Homo sapiens_hsa052190.87895488
69Acute myeloid leukemia_Homo sapiens_hsa052210.83327399
70Cell cycle_Homo sapiens_hsa041100.81285961
71Fc epsilon RI signaling pathway_Homo sapiens_hsa046640.79071235
72Chronic myeloid leukemia_Homo sapiens_hsa052200.76886068
73Olfactory transduction_Homo sapiens_hsa047400.76811860
74Lysosome_Homo sapiens_hsa041420.75850244
75Pentose and glucuronate interconversions_Homo sapiens_hsa000400.75271865
76Long-term depression_Homo sapiens_hsa047300.75235172
77Inositol phosphate metabolism_Homo sapiens_hsa005620.73946057
78Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005630.72925572
79Glycerophospholipid metabolism_Homo sapiens_hsa005640.72517001
80Serotonergic synapse_Homo sapiens_hsa047260.72453129
81Type II diabetes mellitus_Homo sapiens_hsa049300.72035144
82Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.70700892
832-Oxocarboxylic acid metabolism_Homo sapiens_hsa012100.70644048
84Dopaminergic synapse_Homo sapiens_hsa047280.70443844
85Other glycan degradation_Homo sapiens_hsa005110.69171087
86Legionellosis_Homo sapiens_hsa051340.68994724
87Melanoma_Homo sapiens_hsa052180.68559328
88Phosphatidylinositol signaling system_Homo sapiens_hsa040700.65445421
89Fc gamma R-mediated phagocytosis_Homo sapiens_hsa046660.63764724
90Propanoate metabolism_Homo sapiens_hsa006400.63565112
91FoxO signaling pathway_Homo sapiens_hsa040680.63263984
92Steroid biosynthesis_Homo sapiens_hsa001000.63045389
93Valine, leucine and isoleucine degradation_Homo sapiens_hsa002800.63030026
94Purine metabolism_Homo sapiens_hsa002300.62044265
95Cholinergic synapse_Homo sapiens_hsa047250.60108185
96Systemic lupus erythematosus_Homo sapiens_hsa053220.60022003
97Choline metabolism in cancer_Homo sapiens_hsa052310.57352132
98Collecting duct acid secretion_Homo sapiens_hsa049660.56309505
99Staphylococcus aureus infection_Homo sapiens_hsa051500.54694730
100Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa045500.52833363
101Thyroid hormone signaling pathway_Homo sapiens_hsa049190.51670473
102Peroxisome_Homo sapiens_hsa041460.51309804
103Glutathione metabolism_Homo sapiens_hsa004800.51012668
104Endometrial cancer_Homo sapiens_hsa052130.50778050
105Cocaine addiction_Homo sapiens_hsa050300.50448788
106Oocyte meiosis_Homo sapiens_hsa041140.47483220
107ErbB signaling pathway_Homo sapiens_hsa040120.47416158
108Regulation of actin cytoskeleton_Homo sapiens_hsa048100.47356635
109Prostate cancer_Homo sapiens_hsa052150.47109032
110Carbohydrate digestion and absorption_Homo sapiens_hsa049730.46496574
111Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.46136326
112Glioma_Homo sapiens_hsa052140.45594224
113Galactose metabolism_Homo sapiens_hsa000520.45047158
114Dorso-ventral axis formation_Homo sapiens_hsa043200.42593465
115Non-small cell lung cancer_Homo sapiens_hsa052230.42556170
116Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.42472983
117Calcium signaling pathway_Homo sapiens_hsa040200.39967464
118AMPK signaling pathway_Homo sapiens_hsa041520.37221533
119Melanogenesis_Homo sapiens_hsa049160.36537048
120ABC transporters_Homo sapiens_hsa020100.36278912
121Salivary secretion_Homo sapiens_hsa049700.35437793
122Endocytosis_Homo sapiens_hsa041440.35034062
123Viral carcinogenesis_Homo sapiens_hsa052030.34869962
124Epstein-Barr virus infection_Homo sapiens_hsa051690.34672121
125N-Glycan biosynthesis_Homo sapiens_hsa005100.34426873
126Prion diseases_Homo sapiens_hsa050200.33789607
127Insulin signaling pathway_Homo sapiens_hsa049100.32734140
128Gap junction_Homo sapiens_hsa045400.32421697
129Arginine biosynthesis_Homo sapiens_hsa002200.31617373
130MAPK signaling pathway_Homo sapiens_hsa040100.30711147
131Thyroid cancer_Homo sapiens_hsa052160.30542701
132MicroRNAs in cancer_Homo sapiens_hsa052060.29520937
133Hepatitis B_Homo sapiens_hsa051610.29364504
134RNA degradation_Homo sapiens_hsa030180.28018331
135Ubiquitin mediated proteolysis_Homo sapiens_hsa041200.27717043
136Fatty acid elongation_Homo sapiens_hsa000620.25520198
137Herpes simplex infection_Homo sapiens_hsa051680.24967441
138Pyrimidine metabolism_Homo sapiens_hsa002400.24684538
139Natural killer cell mediated cytotoxicity_Homo sapiens_hsa046500.24446082
140Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.24114731
141Estrogen signaling pathway_Homo sapiens_hsa049150.24076898
142Bacterial invasion of epithelial cells_Homo sapiens_hsa051000.23644465
143Central carbon metabolism in cancer_Homo sapiens_hsa052300.23350607
144Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.23206737
145Small cell lung cancer_Homo sapiens_hsa052220.21897200
146RNA polymerase_Homo sapiens_hsa030200.21880517
147Cyanoamino acid metabolism_Homo sapiens_hsa004600.21094673
148Measles_Homo sapiens_hsa051620.19058692
149Basal transcription factors_Homo sapiens_hsa030220.18238976
150One carbon pool by folate_Homo sapiens_hsa006700.16873709
151Pancreatic cancer_Homo sapiens_hsa052120.15543216
152Protein processing in endoplasmic reticulum_Homo sapiens_hsa041410.15120321
153Pathways in cancer_Homo sapiens_hsa052000.13583868
154Mineral absorption_Homo sapiens_hsa049780.13523290
155PI3K-Akt signaling pathway_Homo sapiens_hsa041510.11079301

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