ERCC4

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





Description: The protein encoded by this gene forms a complex with ERCC1 and is involved in the 5' incision made during nucleotide excision repair. This complex is a structure specific DNA repair endonuclease that interacts with EME1. Defects in this gene are a cause of xeroderma pigmentosum complementation group F (XP-F), or xeroderma pigmentosum VI (XP6). NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1behavioral response to nicotine (GO:0035095)5.34802243
2negative regulation of retinoic acid receptor signaling pathway (GO:0048387)5.01730277
3epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)4.43317544
4antigen processing and presentation via MHC class Ib (GO:0002475)4.36776741
5positive regulation of gamma-delta T cell activation (GO:0046645)4.18642776
6fusion of sperm to egg plasma membrane (GO:0007342)4.15296288
7epithelial cilium movement (GO:0003351)4.14453248
8microtubule depolymerization (GO:0007019)4.10242713
9response to pheromone (GO:0019236)4.05118111
10single strand break repair (GO:0000012)3.87960115
11protein polyglutamylation (GO:0018095)3.87132744
12sulfation (GO:0051923)3.86281709
13regulation of MHC class I biosynthetic process (GO:0045343)3.85339885
14cilium or flagellum-dependent cell motility (GO:0001539)3.83173556
15regulation of nuclear cell cycle DNA replication (GO:0033262)3.72185944
16regulation of retinoic acid receptor signaling pathway (GO:0048385)3.66768463
17cilium movement (GO:0003341)3.64515139
18pyrimidine dimer repair (GO:0006290)3.60030415
19regulation of centriole replication (GO:0046599)3.52422762
20cellular ketone body metabolic process (GO:0046950)3.51765848
21water-soluble vitamin biosynthetic process (GO:0042364)3.43351644
22plasma membrane fusion (GO:0045026)3.36305645
23nuclear pore complex assembly (GO:0051292)3.32590443
24cellular response to ATP (GO:0071318)3.31615603
25negative regulation of histone methylation (GO:0031061)3.30965307
26regulation of cilium movement (GO:0003352)3.30327705
27indolalkylamine metabolic process (GO:0006586)3.27683882
28tryptophan catabolic process (GO:0006569)3.23479798
29indole-containing compound catabolic process (GO:0042436)3.23479798
30indolalkylamine catabolic process (GO:0046218)3.23479798
31protein K6-linked ubiquitination (GO:0085020)3.21250941
32positive T cell selection (GO:0043368)3.20725656
33ketone body metabolic process (GO:1902224)3.20349638
34nuclear pore organization (GO:0006999)3.19940285
35DNA deamination (GO:0045006)3.17906410
36cell proliferation in forebrain (GO:0021846)3.15989221
37detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)3.13853606
38motile cilium assembly (GO:0044458)3.13083186
39mitotic sister chromatid segregation (GO:0000070)3.11037897
40multicellular organism reproduction (GO:0032504)3.10786008
41protein localization to kinetochore (GO:0034501)3.09986529
42positive thymic T cell selection (GO:0045059)3.09319378
43gamma-aminobutyric acid transport (GO:0015812)3.08665388
44mitotic nuclear envelope disassembly (GO:0007077)3.04966250
45regulation of histone H3-K27 methylation (GO:0061085)3.04829618
46monoubiquitinated protein deubiquitination (GO:0035520)3.03984388
47fucose catabolic process (GO:0019317)3.03058456
48L-fucose metabolic process (GO:0042354)3.03058456
49L-fucose catabolic process (GO:0042355)3.03058456
50mitotic metaphase plate congression (GO:0007080)3.02466586
51otic vesicle formation (GO:0030916)3.01582779
52nonmotile primary cilium assembly (GO:0035058)3.01140889
53protein localization to chromosome, centromeric region (GO:0071459)3.00575156
54regulation of gamma-delta T cell activation (GO:0046643)2.98367711
55axoneme assembly (GO:0035082)2.95400015
56cilium morphogenesis (GO:0060271)2.95117531
57mitotic sister chromatid cohesion (GO:0007064)2.94922932
58cilium organization (GO:0044782)2.94498277
59somatic hypermutation of immunoglobulin genes (GO:0016446)2.92774909
60somatic diversification of immune receptors via somatic mutation (GO:0002566)2.92774909
61determination of adult lifespan (GO:0008340)2.92741907
62primary amino compound metabolic process (GO:1901160)2.90520255
63histone H3-K4 trimethylation (GO:0080182)2.89611034
64centriole replication (GO:0007099)2.89463784
65regulation of gamma-delta T cell differentiation (GO:0045586)2.88576222
66spindle assembly involved in mitosis (GO:0090307)2.88353199
67cilium assembly (GO:0042384)2.85151075
68positive regulation of granulocyte differentiation (GO:0030854)2.84916677
69kynurenine metabolic process (GO:0070189)2.84307359
70detection of light stimulus involved in visual perception (GO:0050908)2.84260269
71detection of light stimulus involved in sensory perception (GO:0050962)2.84260269
72* regulation of telomere maintenance (GO:0032204)2.83509017
73positive regulation of B cell differentiation (GO:0045579)2.83075517
74limb bud formation (GO:0060174)2.81582609
75nephron tubule morphogenesis (GO:0072078)2.81394639
76nephron epithelium morphogenesis (GO:0072088)2.81394639
77establishment of protein localization to mitochondrial membrane (GO:0090151)2.79685517
78nuclear envelope disassembly (GO:0051081)2.78835336
79membrane disassembly (GO:0030397)2.78835336
80tryptophan metabolic process (GO:0006568)2.78644385
81somite development (GO:0061053)2.78447166
82photoreceptor cell development (GO:0042461)2.78392813
83mitochondrial respiratory chain complex I assembly (GO:0032981)2.77758810
84NADH dehydrogenase complex assembly (GO:0010257)2.77758810
85mitochondrial respiratory chain complex I biogenesis (GO:0097031)2.77758810
86regulation of histone H3-K9 methylation (GO:0051570)2.77035190
87histone H2A acetylation (GO:0043968)2.76686558
88regulation of action potential (GO:0098900)2.75393033
89DNA replication initiation (GO:0006270)2.74451427
90acrosome reaction (GO:0007340)2.73986319
91kidney morphogenesis (GO:0060993)2.73779341
92regulation of hippo signaling (GO:0035330)2.73559117
93negative regulation of transcription regulatory region DNA binding (GO:2000678)2.68962343
94protein complex biogenesis (GO:0070271)2.68740094
95regulation of short-term neuronal synaptic plasticity (GO:0048172)2.68262724
96pore complex assembly (GO:0046931)2.67441326
97indole-containing compound metabolic process (GO:0042430)2.67349143
98T cell homeostasis (GO:0043029)2.67226706
99negative regulation of translation involved in gene silencing by miRNA (GO:0035278)2.66909354
100negative regulation of translation, ncRNA-mediated (GO:0040033)2.66909354
101regulation of translation, ncRNA-mediated (GO:0045974)2.66909354
102piRNA metabolic process (GO:0034587)2.66426479
103neuronal action potential (GO:0019228)2.66324669
104sister chromatid segregation (GO:0000819)2.65877263
105regulation of centrosome cycle (GO:0046605)2.65498851
106regulation of spindle organization (GO:0090224)2.64893448
107regulation of attachment of spindle microtubules to kinetochore (GO:0051988)2.64830668
108regulation of telomere maintenance via telomerase (GO:0032210)2.63068145
109protein K11-linked deubiquitination (GO:0035871)2.62893256
110regulation of mesoderm development (GO:2000380)2.62594787
111spinal cord motor neuron differentiation (GO:0021522)2.61841974
112establishment of protein localization to Golgi (GO:0072600)2.61386281
113mismatch repair (GO:0006298)2.61246435
114male meiosis I (GO:0007141)2.60070782
115regulation of DNA endoreduplication (GO:0032875)2.58882571
116pyrimidine nucleobase catabolic process (GO:0006208)2.58657327
117transmission of nerve impulse (GO:0019226)2.57755518
118spermatid development (GO:0007286)2.56522087
119negative regulation of cell killing (GO:0031342)2.55501219
120negative regulation of leukocyte mediated cytotoxicity (GO:0001911)2.55501219
121replication fork processing (GO:0031297)2.54733228
122regulation of collateral sprouting (GO:0048670)2.54718283
123eye photoreceptor cell development (GO:0042462)2.54584775
124regulation of mitotic spindle organization (GO:0060236)2.51606919
125serotonin metabolic process (GO:0042428)2.51501672
126oxygen transport (GO:0015671)2.50839069
127protein K63-linked deubiquitination (GO:0070536)2.50021090
128negative regulation of mast cell activation (GO:0033004)2.49721731
129nuclear-transcribed mRNA catabolic process, exonucleolytic (GO:0000291)2.48535045
130mitochondrial respiratory chain complex assembly (GO:0033108)2.48260392
131reflex (GO:0060004)2.47908373
132intraciliary transport (GO:0042073)2.47627455
133microtubule cytoskeleton organization involved in mitosis (GO:1902850)2.47511829
134negative regulation of systemic arterial blood pressure (GO:0003085)2.47357410
135opioid receptor signaling pathway (GO:0038003)2.47195776
136positive regulation of synapse maturation (GO:0090129)2.46322522
137metaphase plate congression (GO:0051310)2.46119345
138T cell selection (GO:0045058)2.45795299
139positive regulation of antigen receptor-mediated signaling pathway (GO:0050857)2.44365676
140histone H3-K4 methylation (GO:0051568)2.44210220
141synaptonemal complex assembly (GO:0007130)2.44175217
142cellular hyperosmotic response (GO:0071474)2.43867774
143DNA double-strand break processing (GO:0000729)2.43484121
144rRNA catabolic process (GO:0016075)2.43152756
145rRNA methylation (GO:0031167)2.42759903
146axonemal dynein complex assembly (GO:0070286)2.42351327
147protein-cofactor linkage (GO:0018065)2.41885579
148protein localization to cilium (GO:0061512)2.41531569
149preassembly of GPI anchor in ER membrane (GO:0016254)2.41025735
150determination of left/right symmetry (GO:0007368)2.40849258
151negative regulation of DNA-templated transcription, elongation (GO:0032785)2.40755400
152negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244)2.40755400
153tongue development (GO:0043586)2.40508384
154pre-miRNA processing (GO:0031054)2.39811416
155receptor recycling (GO:0001881)2.39737110
156sperm motility (GO:0030317)2.38445081
157negative T cell selection (GO:0043383)2.38014256
158exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay 2.37957712
159G-protein coupled glutamate receptor signaling pathway (GO:0007216)2.37730716
160respiratory chain complex IV assembly (GO:0008535)2.37560267
161meiotic chromosome segregation (GO:0045132)2.37506903
162negative regulation of DNA-dependent DNA replication (GO:2000104)2.37326653
1633-phosphoadenosine 5-phosphosulfate metabolic process (GO:0050427)2.37250727
164purine ribonucleoside bisphosphate metabolic process (GO:0034035)2.37250727
165establishment of chromosome localization (GO:0051303)2.36708248
166regulation of interleukin-12 biosynthetic process (GO:0045075)2.36342110
167* recombinational repair (GO:0000725)2.36192374
168* double-strand break repair via homologous recombination (GO:0000724)2.35618789
169synaptic transmission, cholinergic (GO:0007271)2.34065564
170regulation of gene silencing by miRNA (GO:0060964)2.34035668
171interferon-gamma production (GO:0032609)2.33116806
172regulation of RNA export from nucleus (GO:0046831)2.32704065
173cytokine production involved in immune response (GO:0002367)2.31991454
174spindle assembly (GO:0051225)2.31848357
175synaptic vesicle maturation (GO:0016188)2.31765155
176thymic T cell selection (GO:0045061)2.31084693
177protein complex localization (GO:0031503)2.30679620
178regulation of histone methylation (GO:0031060)2.29962179
179establishment of mitotic spindle localization (GO:0040001)2.29922651
180peptidyl-lysine trimethylation (GO:0018023)2.29899356
181negative thymic T cell selection (GO:0045060)2.29000688
182DNA packaging (GO:0006323)2.27645765
183regulation of histone H3-K4 methylation (GO:0051569)2.27447256
184sperm-egg recognition (GO:0035036)2.26946740
185cell-cell recognition (GO:0009988)2.26665898
186intra-S DNA damage checkpoint (GO:0031573)2.26542748
187chromatin silencing (GO:0006342)2.26465936
188histone H2A monoubiquitination (GO:0035518)2.26347544
189negative regulation of circadian rhythm (GO:0042754)2.26065385
190regulation of synapse maturation (GO:0090128)2.25676344

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1E2F7_22180533_ChIP-Seq_HELA_Human7.68649331
2FOXM1_23109430_ChIP-Seq_U2OS_Human4.79784755
3MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse3.66737341
4ZNF274_21170338_ChIP-Seq_K562_Hela3.48583068
5GBX2_23144817_ChIP-Seq_PC3_Human3.08502271
6STAT6_20620947_ChIP-Seq_CD4_POS_T_Human3.05268633
7VDR_22108803_ChIP-Seq_LS180_Human2.99093626
8E2F4_17652178_ChIP-ChIP_JURKAT_Human2.89401064
9MYC_22102868_ChIP-Seq_BL_Human2.85963691
10HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse2.80009570
11FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse2.63101126
12CIITA_25753668_ChIP-Seq_RAJI_Human2.57376841
13FUS_26573619_Chip-Seq_HEK293_Human2.56945273
14ZFP57_27257070_Chip-Seq_ESCs_Mouse2.53576025
15GLI1_17442700_ChIP-ChIP_MESCs_Mouse2.48061134
16IGF1R_20145208_ChIP-Seq_DFB_Human2.47904447
17GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse2.39926402
18* CTBP2_25329375_ChIP-Seq_LNCAP_Human2.33097784
19MYCN_21190229_ChIP-Seq_SHEP-21N_Human2.32655871
20* EWS_26573619_Chip-Seq_HEK293_Human2.24790714
21* CTBP1_25329375_ChIP-Seq_LNCAP_Human2.23556937
22POU3F2_20337985_ChIP-ChIP_501MEL_Human2.20032321
23P300_19829295_ChIP-Seq_ESCs_Human2.16510392
24TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse2.15950952
25CEBPD_23245923_ChIP-Seq_MEFs_Mouse2.05600082
26ER_23166858_ChIP-Seq_MCF-7_Human2.02701279
27SCL_19346495_ChIP-Seq_HPC-7_Human1.94421591
28FLI1_27457419_Chip-Seq_LIVER_Mouse1.92177998
29TAF15_26573619_Chip-Seq_HEK293_Human1.90599407
30FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human1.89643285
31VDR_23401126_ChIP-Seq_LCL-AND-THP1_Human1.85972340
32FOXP3_17237761_ChIP-ChIP_TREG_Mouse1.81688631
33IRF8_22096565_ChIP-ChIP_GC-B_Mouse1.80441903
34VDR_21846776_ChIP-Seq_THP-1_Human1.78360185
35SALL1_21062744_ChIP-ChIP_HESCs_Human1.78025429
36HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human1.77255940
37RUNX1_20887958_ChIP-Seq_HPC-7_Mouse1.75330391
38BMI1_23680149_ChIP-Seq_NPCS_Mouse1.74694683
39AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human1.72342124
40KDM5B_21448134_ChIP-Seq_MESCs_Mouse1.70278027
41CBX2_27304074_Chip-Seq_ESCs_Mouse1.69942237
42RCOR2_21632747_ChIP-Seq_MESCs_Mouse1.69897579
43* CBP_20019798_ChIP-Seq_JUKART_Human1.67285874
44* IRF4_20064451_ChIP-Seq_CD4+T_Mouse1.67285874
45UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human1.65580063
46EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human1.65314044
47SMAD4_21799915_ChIP-Seq_A2780_Human1.64185562
48* EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.63677563
49* NACC1_18358816_ChIP-ChIP_MESCs_Mouse1.61658674
50NANOG_18555785_ChIP-Seq_MESCs_Mouse1.59268049
51MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human1.58494592
52* STAT3_23295773_ChIP-Seq_U87_Human1.58463932
53SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.57971459
54* FOXO1_25302145_ChIP-Seq_T-LYMPHOCYTE_Mouse1.57252015
55MYB_26560356_Chip-Seq_TH1_Human1.55432142
56MECOM_23826213_ChIP-Seq_KASUMI_Mouse1.55292773
57TCF7_22412390_ChIP-Seq_EML_Mouse1.53723566
58AR_21572438_ChIP-Seq_LNCaP_Human1.53668998
59PCGF2_27294783_Chip-Seq_ESCs_Mouse1.53600520
60SMAD3_21741376_ChIP-Seq_EPCs_Human1.53401450
61YY1_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.53343947
62NANOG_18700969_ChIP-ChIP_MESCs_Mouse1.53132160
63SPI1_22096565_ChIP-ChIP_GC-B_Mouse1.52815232
64NOTCH1_21737748_ChIP-Seq_TLL_Human1.52388060
65MEIS1_20887958_ChIP-Seq_HPC-7_Mouse1.52224458
66RUNX1_22412390_ChIP-Seq_EML_Mouse1.51562565
67MYC_18555785_ChIP-Seq_MESCs_Mouse1.51043693
68PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.51041964
69E2A_27217539_Chip-Seq_RAMOS-Cell_line_Human1.50766937
70BCAT_22108803_ChIP-Seq_LS180_Human1.50755799
71AR_25329375_ChIP-Seq_VCAP_Human1.49884502
72ZFP322A_24550733_ChIP-Seq_MESCs_Mouse1.49384938
73UTX_26944678_Chip-Seq_JUKART_Human1.48442826
74PIAS1_25552417_ChIP-Seq_VCAP_Human1.47197609
75POU5F1_26923725_Chip-Seq_MESODERM_Mouse1.46186354
76TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.46186354
77MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse1.45936979
78SPI1_22790984_ChIP-Seq_ERYTHROLEUKEMIA_Mouse1.44263164
79* TOP2B_26459242_ChIP-Seq_MCF-7_Human1.43141085
80MAF_26560356_Chip-Seq_TH1_Human1.43056842
81GABP_17652178_ChIP-ChIP_JURKAT_Human1.41491698
82RUNX_20019798_ChIP-Seq_JUKART_Human1.40516039
83* TCF4_23295773_ChIP-Seq_U87_Human1.38322502
84ASXL1_24218140_ChIP-Seq_BMDM_Mouse1.37140458
85MYC_19079543_ChIP-ChIP_MESCs_Mouse1.37085021
86FOXP3_21729870_ChIP-Seq_TREG_Human1.37068794
87E2F1_21310950_ChIP-Seq_MCF-7_Human1.36819828
88MYB_26560356_Chip-Seq_TH2_Human1.36686087
89FLI1_20887958_ChIP-Seq_HPC-7_Mouse1.36612409
90XRN2_22483619_ChIP-Seq_HELA_Human1.34638954
91CREB1_23762244_ChIP-Seq_HIPPOCAMPUS_Rat1.34139601
92SMAD3_22036565_ChIP-Seq_ESCs_Mouse1.33550118
93KDM2B_26808549_Chip-Seq_DND41_Human1.31822081
94MYC_18358816_ChIP-ChIP_MESCs_Mouse1.30953223
95NR3C1_21868756_ChIP-Seq_MCF10A_Human1.30832778
96SIN3A_21632747_ChIP-Seq_MESCs_Mouse1.30734235
97RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.30511992
98* GFI1B_20887958_ChIP-Seq_HPC-7_Mouse1.29710025
99* TCF4_22108803_ChIP-Seq_LS180_Human1.29661933
100RARB_27405468_Chip-Seq_BRAIN_Mouse1.29112809
101SOX2_19829295_ChIP-Seq_ESCs_Human1.27271704
102NANOG_19829295_ChIP-Seq_ESCs_Human1.27271704
103* REST_21632747_ChIP-Seq_MESCs_Mouse1.26905100
104KDM2B_26808549_Chip-Seq_SIL-ALL_Human1.26183641
105TP53_22573176_ChIP-Seq_HFKS_Human1.26134431
106* MYC_18940864_ChIP-ChIP_HL60_Human1.25379777
107IRF1_19129219_ChIP-ChIP_H3396_Human1.25275104
108RUNX2_22187159_ChIP-Seq_PCA_Human1.25182574
109RNF2_27304074_Chip-Seq_NSC_Mouse1.25009289
110* CREM_20920259_ChIP-Seq_GC1-SPG_Mouse1.24946085
111PCGF2_27294783_Chip-Seq_NPCs_Mouse1.24637807
112SMAD4_21741376_ChIP-Seq_EPCs_Human1.24603023
113SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.21428459
114POU5F1_18700969_ChIP-ChIP_MESCs_Mouse1.21425720
115EED_16625203_ChIP-ChIP_MESCs_Mouse1.21283525
116EZH2_22144423_ChIP-Seq_EOC_Human1.21179684
117SALL4_18804426_ChIP-ChIP_MESCs_Mouse1.20433287
118SUZ12_27294783_Chip-Seq_NPCs_Mouse1.19768012
119ELK1_19687146_ChIP-ChIP_HELA_Human1.19727756
120SMAD_19615063_ChIP-ChIP_OVARY_Human1.19196086
121* KLF5_20875108_ChIP-Seq_MESCs_Mouse1.19191719
122OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.18494537
123SFPI1_20887958_ChIP-Seq_HPC-7_Mouse1.17523572
124KAP1_22055183_ChIP-Seq_ESCs_Mouse1.17339430
125KDM2B_26808549_Chip-Seq_HPB-ALL_Human1.17290804
126MAF_26560356_Chip-Seq_TH2_Human1.15369458
127EZH2_27304074_Chip-Seq_ESCs_Mouse1.15121213
128EST1_17652178_ChIP-ChIP_JURKAT_Human1.14748567
129ZFP42_18358816_ChIP-ChIP_MESCs_Mouse1.14664765
130NANOG_18555785_Chip-Seq_ESCs_Mouse1.14587959
131POU5F1_16153702_ChIP-ChIP_HESCs_Human1.14194895
132SMAD1_18555785_ChIP-Seq_MESCs_Mouse1.14092980
133STAT3_1855785_ChIP-Seq_MESCs_Mouse1.13963872
134EZH2_27294783_Chip-Seq_NPCs_Mouse1.13610860
135NFE2_27457419_Chip-Seq_LIVER_Mouse1.13160572
136GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse1.13028331
137BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse1.12838245
138TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human1.12667794
139MYCN_18555785_ChIP-Seq_MESCs_Mouse1.12411387
140VDR_23849224_ChIP-Seq_CD4+_Human1.11513765
141REST_18959480_ChIP-ChIP_MESCs_Mouse1.11369156
142FOXA1_27270436_Chip-Seq_PROSTATE_Human1.11316815
143FOXA1_25329375_ChIP-Seq_VCAP_Human1.11316815
144PRDM14_20953172_ChIP-Seq_ESCs_Human1.10917178
145TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse1.10665159
146GATA1_26923725_Chip-Seq_HPCs_Mouse1.10362495
147TAL1_20887958_ChIP-Seq_HPC-7_Mouse1.09532319
148EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human1.07634075
149JARID2_20064375_ChIP-Seq_MESCs_Mouse1.07150044
150* FLI1_21867929_ChIP-Seq_TH2_Mouse1.07092984
151STAT3_20064451_ChIP-Seq_CD4+T_Mouse1.06111483
152CREB1_20920259_ChIP-Seq_GC1-SPG_Mouse1.05407070
153RNF2_16625203_ChIP-ChIP_MESCs_Mouse1.05251255
154POU5F1_18555785_ChIP-Seq_MESCs_Mouse1.05227855
155IRF8_22096565_ChIP-ChIP_GC-B_Human1.05019482
156MYC_19030024_ChIP-ChIP_MESCs_Mouse1.04922553
157HCFC1_20581084_ChIP-Seq_MESCs_Mouse1.04377891
158ARNT_22903824_ChIP-Seq_MCF-7_Human1.04349924
159ETS1_20019798_ChIP-Seq_JURKAT_Human1.02822973
160EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse1.02350710
161* NCOR_22424771_ChIP-Seq_293T_Human1.01893693
162VDR_24763502_ChIP-Seq_THP-1_Human1.01275533
163CDX2_22108803_ChIP-Seq_LS180_Human1.01189231
164CTNNB1_20615089_ChIP-ChIP_FETAL_BRAIN_Human1.01090563
165SPI1_23127762_ChIP-Seq_K562_Human1.01001725
166CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons1.00778102
167MYBL2_22936984_ChIP-ChIP_MESCs_Mouse1.00461590
168P53_22387025_ChIP-Seq_ESCs_Mouse1.00061244
169* SOX2_21211035_ChIP-Seq_LN229_Gbm0.99745505
170FOXA1_21572438_ChIP-Seq_LNCaP_Human0.99219644
171KLF4_25985364_ChIP-Seq_ATHEROSCLEROSIS_LESION_Mouse0.99012826
172AUTS2_25519132_ChIP-Seq_293T-REX_Human0.98924309
173KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human0.98364941
174CEBPB_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.98086361
175PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse0.97182216
176PKCTHETA_26484144_Chip-Seq_BREAST_Human0.97080333
177JUN_21703547_ChIP-Seq_K562_Human0.96807074
178STAT4_19710469_ChIP-ChIP_TH1__Mouse0.95274244
179EKLF_21900194_ChIP-Seq_ERYTHROCYTE_Mouse0.94908585
180NOTCH1_17114293_ChIP-ChIP_T-ALL_Human0.93603459
181KAP1_27257070_Chip-Seq_ESCs_Mouse0.93389394
182PU.1_20513432_ChIP-Seq_Bcells_Mouse0.92643357
183NFE2L2_22581777_ChIP-Seq_LYMPHOBLASTOID_Human0.89833829
184SMARCD1_25818293_ChIP-Seq_ESCs_Mouse0.87565083
185KDM2B_26808549_Chip-Seq_JURKAT_Human0.87096341
186RCOR3_21632747_ChIP-Seq_MESCs_Mouse0.86494647
187IRF8_21731497_ChIP-ChIP_J774_Mouse0.86263929
188IRF1_21803131_ChIP-Seq_MONOCYTES_Human0.86081864
189ZFP281_18358816_ChIP-ChIP_MESCs_Mouse0.85433675
190GATA2_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.85037747
191THAP11_20581084_ChIP-Seq_MESCs_Mouse0.84781778
192SPI1_23547873_ChIP-Seq_NB4_Human0.84710778
193KDM2B_26808549_Chip-Seq_SUP-B15_Human0.84470452
194WDR5_24793694_ChIP-Seq_LNCAP_Human0.84451764

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0004859_abnormal_synaptic_plasticity3.46460925
2MP0003111_abnormal_nucleus_morphology3.21057135
3MP0002653_abnormal_ependyma_morphology3.08010102
4MP0010094_abnormal_chromosome_stability2.96957751
5MP0005410_abnormal_fertilization2.88311429
6MP0003136_yellow_coat_color2.84680017
7MP0000569_abnormal_digit_pigmentation2.78095710
8MP0003077_abnormal_cell_cycle2.74771328
9MP0003693_abnormal_embryo_hatching2.73389191
10MP0002822_catalepsy2.66722765
11MP0008057_abnormal_DNA_replication2.42781786
12MP0008007_abnormal_cellular_replicative2.40426661
13MP0003763_abnormal_thymus_physiology2.33860453
14MP0003195_calcinosis2.28444977
15MP0008058_abnormal_DNA_repair2.27776047
16MP0002396_abnormal_hematopoietic_system2.21371940
17MP0005551_abnormal_eye_electrophysiolog2.19786797
18MP0003646_muscle_fatigue2.14179254
19MP0005397_hematopoietic_system_phenotyp2.13203231
20MP0001545_abnormal_hematopoietic_system2.13203231
21MP0004142_abnormal_muscle_tone2.12016608
22MP0002102_abnormal_ear_morphology2.11449769
23MP0009278_abnormal_bone_marrow1.95023834
24MP0002928_abnormal_bile_duct1.93787673
25MP0005671_abnormal_response_to1.93711669
26MP0008961_abnormal_basal_metabolism1.93616718
27MP0002160_abnormal_reproductive_system1.93047464
28MP0002837_dystrophic_cardiac_calcinosis1.92873006
29MP0001968_abnormal_touch/_nociception1.90947862
30MP0001485_abnormal_pinna_reflex1.89801867
31MP0002398_abnormal_bone_marrow1.89732229
32MP0003890_abnormal_embryonic-extraembry1.89670054
33MP0002938_white_spotting1.87386537
34MP0003635_abnormal_synaptic_transmissio1.82549538
35MP0005084_abnormal_gallbladder_morpholo1.82186698
36MP0005646_abnormal_pituitary_gland1.80728206
37MP0001929_abnormal_gametogenesis1.79937743
38MP0000703_abnormal_thymus_morphology1.79559020
39MP0000631_abnormal_neuroendocrine_gland1.79190218
40MP0009745_abnormal_behavioral_response1.74164835
41MP0004808_abnormal_hematopoietic_stem1.71670595
42MP0006072_abnormal_retinal_apoptosis1.69604611
43MP0003698_abnormal_male_reproductive1.68999959
44MP0002736_abnormal_nociception_after1.67202145
45MP0006276_abnormal_autonomic_nervous1.66903256
46MP0004885_abnormal_endolymph1.66388459
47MP0002064_seizures1.61416452
48MP0005389_reproductive_system_phenotype1.60093840
49MP0000372_irregular_coat_pigmentation1.59014164
50MP0004957_abnormal_blastocyst_morpholog1.58843205
51MP0000689_abnormal_spleen_morphology1.57685429
52MP0005253_abnormal_eye_physiology1.55602194
53MP0008877_abnormal_DNA_methylation1.54411285
54MP0001800_abnormal_humoral_immune1.53490016
55MP0002722_abnormal_immune_system1.53405683
56MP0003787_abnormal_imprinting1.52582257
57MP0004145_abnormal_muscle_electrophysio1.52563618
58MP0004133_heterotaxia1.49402808
59MP0002234_abnormal_pharynx_morphology1.47982055
60MP0009333_abnormal_splenocyte_physiolog1.47951363
61MP0001984_abnormal_olfaction1.47013471
62MP0002638_abnormal_pupillary_reflex1.44853171
63MP0005645_abnormal_hypothalamus_physiol1.44157014
64MP0003880_abnormal_central_pattern1.43782714
65MP0008872_abnormal_physiological_respon1.43153651
66MP0002420_abnormal_adaptive_immunity1.42291160
67MP0000716_abnormal_immune_system1.42079120
68MP0003172_abnormal_lysosome_physiology1.42018389
69MP0001819_abnormal_immune_cell1.40104812
70MP0001529_abnormal_vocalization1.38365042
71MP0003011_delayed_dark_adaptation1.37149078
72MP0000015_abnormal_ear_pigmentation1.36609291
73MP0002210_abnormal_sex_determination1.35904841
74MP0003718_maternal_effect1.33805901
75MP0000350_abnormal_cell_proliferation1.31898182
76MP0001486_abnormal_startle_reflex1.30940077
77MP0005409_darkened_coat_color1.30730625
78MP0000313_abnormal_cell_death1.29694570
79MP0000049_abnormal_middle_ear1.28254105
80MP0002876_abnormal_thyroid_physiology1.27285815
81MP0003937_abnormal_limbs/digits/tail_de1.26080469
82MP0002429_abnormal_blood_cell1.25911337
83MP0005075_abnormal_melanosome_morpholog1.25759802
84MP0003183_abnormal_peptide_metabolism1.24163550
85MP0001835_abnormal_antigen_presentation1.24157238
86MP0001919_abnormal_reproductive_system1.22630261
87MP0002075_abnormal_coat/hair_pigmentati1.22257085
88MP0000371_diluted_coat_color1.21121388
89MP0005174_abnormal_tail_pigmentation1.20789013
90MP0002138_abnormal_hepatobiliary_system1.20461524
91MP0002405_respiratory_system_inflammati1.19882449
92MP0001730_embryonic_growth_arrest1.19200707
93MP0008875_abnormal_xenobiotic_pharmacok1.17146418
94MP0002452_abnormal_antigen_presenting1.14134232
95MP0002723_abnormal_immune_serum1.13824382
96MP0000026_abnormal_inner_ear1.13266552
97MP0008789_abnormal_olfactory_epithelium1.13219356
98MP0002282_abnormal_trachea_morphology1.11265778
99MP0009046_muscle_twitch1.09893562
100MP0004043_abnormal_pH_regulation1.09846395
101MP0002572_abnormal_emotion/affect_behav1.09418465
102MP0002063_abnormal_learning/memory/cond1.09064830
103MP0000427_abnormal_hair_cycle1.09010095
104MP0002557_abnormal_social/conspecific_i1.08499861
105* MP0008569_lethality_at_weaning1.07977263
106MP0002184_abnormal_innervation1.07805719
107MP0001145_abnormal_male_reproductive1.06743320
108MP0000685_abnormal_immune_system1.06420239
109MP0005195_abnormal_posterior_eye1.06261195
110MP0000778_abnormal_nervous_system1.06074198
111MP0005387_immune_system_phenotype1.05898049
112MP0001790_abnormal_immune_system1.05898049
113MP0002161_abnormal_fertility/fecundity1.05701474
114MP0003303_peritoneal_inflammation1.04643983
115MP0002163_abnormal_gland_morphology1.02341966
116MP0009250_abnormal_appendicular_skeleto1.02261919
117MP0002733_abnormal_thermal_nociception1.01802576
118MP0002277_abnormal_respiratory_mucosa1.01643959
119MP0002752_abnormal_somatic_nervous1.01305254
120MP0005310_abnormal_salivary_gland1.00625992
121MP0004134_abnormal_chest_morphology1.00528066
122MP0005621_abnormal_cell_physiology1.00343517
123MP0001293_anophthalmia0.98808974
124MP0002067_abnormal_sensory_capabilities0.98803381
125MP0001905_abnormal_dopamine_level0.98733198
126MP0005379_endocrine/exocrine_gland_phen0.97127973
127MP0002735_abnormal_chemical_nociception0.96898479
128MP0000653_abnormal_sex_gland0.96181494
129MP0002095_abnormal_skin_pigmentation0.94852106
130MP0010386_abnormal_urinary_bladder0.93746848
131MP0002734_abnormal_mechanical_nocicepti0.93511187
132MP0010307_abnormal_tumor_latency0.92585569
133MP0004858_abnormal_nervous_system0.92144098
134MP0003866_abnormal_defecation0.91651774
135MP0003283_abnormal_digestive_organ0.91202014
136MP0004811_abnormal_neuron_physiology0.91007407
137MP0002272_abnormal_nervous_system0.90959788
138MP0004742_abnormal_vestibular_system0.90682107
139MP0001501_abnormal_sleep_pattern0.89689118
140MP0005000_abnormal_immune_tolerance0.88276085
141MP0002019_abnormal_tumor_incidence0.87331167
142MP0000955_abnormal_spinal_cord0.87154019
143MP0005464_abnormal_platelet_physiology0.87001032
144MP0006292_abnormal_olfactory_placode0.86819741
145MP0001963_abnormal_hearing_physiology0.86637954
146MP0004215_abnormal_myocardial_fiber0.86303023
147* MP0005384_cellular_phenotype0.85855038
148MP0001672_abnormal_embryogenesis/_devel0.85682182
149MP0005380_embryogenesis_phenotype0.85682182
150MP0001986_abnormal_taste_sensitivity0.85567836
151MP0001186_pigmentation_phenotype0.83726800
152MP0003878_abnormal_ear_physiology0.83607438
153MP0005377_hearing/vestibular/ear_phenot0.83607438
154MP0005386_behavior/neurological_phenoty0.83249833
155MP0004924_abnormal_behavior0.83249833
156MP0003984_embryonic_growth_retardation0.82227217
157MP0005187_abnormal_penis_morphology0.81765263
158MP0001970_abnormal_pain_threshold0.81288646
159MP0004510_myositis0.81143998
160MP0003119_abnormal_digestive_system0.79770940
161MP0005391_vision/eye_phenotype0.79709845
162MP0001188_hyperpigmentation0.79571710
163MP0001324_abnormal_eye_pigmentation0.78512014
164MP0008770_decreased_survivor_rate0.78209584
165MP0002751_abnormal_autonomic_nervous0.77601341
166MP0003633_abnormal_nervous_system0.77028463
167MP0009765_abnormal_xenobiotic_induced0.75227744
168* MP0000358_abnormal_cell_content/0.74602939
169MP0001915_intracranial_hemorrhage0.74480633
170MP0002080_prenatal_lethality0.73697422
171MP0000465_gastrointestinal_hemorrhage0.72577780

Predicted human phenotypes

RankGene SetZ-score
1Pancreatic cysts (HP:0001737)4.76612512
2Pancreatic fibrosis (HP:0100732)4.47968873
3True hermaphroditism (HP:0010459)4.33433933
4Abnormality of midbrain morphology (HP:0002418)3.94378773
5Molar tooth sign on MRI (HP:0002419)3.94378773
6Stomatitis (HP:0010280)3.89944851
7Abnormality of the lower motor neuron (HP:0002366)3.49428486
8Abnormality of the renal medulla (HP:0100957)3.32387355
9Abnormality of the fingertips (HP:0001211)3.31637156
10Congenital stationary night blindness (HP:0007642)3.25995255
11Nasal polyposis (HP:0100582)3.19381035
12Chronic hepatic failure (HP:0100626)3.14428641
13Abnormality of the renal cortex (HP:0011035)3.10422891
14Scanning speech (HP:0002168)3.08334464
15* Myelodysplasia (HP:0002863)2.99348001
16Cystic liver disease (HP:0006706)2.99225021
17Abnormal ciliary motility (HP:0012262)2.95975222
18Type II lissencephaly (HP:0007260)2.95785984
19Medial flaring of the eyebrow (HP:0010747)2.94995247
20Spinal muscular atrophy (HP:0007269)2.90482954
21Medulloblastoma (HP:0002885)2.87906958
22Degeneration of anterior horn cells (HP:0002398)2.82788004
23Abnormality of the anterior horn cell (HP:0006802)2.82788004
24Chronic otitis media (HP:0000389)2.82625862
25Tubular atrophy (HP:0000092)2.79472015
26Agnosia (HP:0010524)2.76672854
27Methylmalonic acidemia (HP:0002912)2.75780775
28Abolished electroretinogram (ERG) (HP:0000550)2.73784540
29Poikiloderma (HP:0001029)2.73642193
30Basal cell carcinoma (HP:0002671)2.73195704
31Sclerocornea (HP:0000647)2.72188794
32Large eyes (HP:0001090)2.72053152
33Abnormal respiratory motile cilium physiology (HP:0012261)2.71698940
34Pendular nystagmus (HP:0012043)2.68189753
35Abnormal rod and cone electroretinograms (HP:0008323)2.68165779
36Attenuation of retinal blood vessels (HP:0007843)2.67375961
37Keratoconus (HP:0000563)2.62262641
38Increased corneal curvature (HP:0100692)2.62262641
39Polydipsia (HP:0001959)2.60038380
40Abnormal drinking behavior (HP:0030082)2.60038380
41Aplasia/Hypoplasia of the tongue (HP:0010295)2.58946055
42Cerebral hypomyelination (HP:0006808)2.58606297
43Birth length less than 3rd percentile (HP:0003561)2.58312596
44Panhypogammaglobulinemia (HP:0003139)2.56362728
45Entropion (HP:0000621)2.54537276
46Dynein arm defect of respiratory motile cilia (HP:0012255)2.54194570
47Absent/shortened dynein arms (HP:0200106)2.54194570
48Abnormality of the nasal mucosa (HP:0000433)2.49437996
49Upper motor neuron abnormality (HP:0002127)2.48135579
50Gait imbalance (HP:0002141)2.43293395
51Abnormality of ocular smooth pursuit (HP:0000617)2.42213343
52Neoplasm of the oral cavity (HP:0100649)2.42171468
53Abdominal situs inversus (HP:0003363)2.41298195
54Abnormality of abdominal situs (HP:0011620)2.41298195
55Respiratory insufficiency due to defective ciliary clearance (HP:0200073)2.40770512
56Impulsivity (HP:0100710)2.37769107
57Abnormality of the pons (HP:0007361)2.37534508
58Male pseudohermaphroditism (HP:0000037)2.37487581
59Furrowed tongue (HP:0000221)2.37062327
60Decreased central vision (HP:0007663)2.36082698
61Congenital primary aphakia (HP:0007707)2.35699093
62Abnormal respiratory motile cilium morphology (HP:0005938)2.35129296
63Abnormal respiratory epithelium morphology (HP:0012253)2.35129296
64Hypoplasia of the pons (HP:0012110)2.33852234
65Intracellular accumulation of autofluorescent lipopigment storage material (HP:0003204)2.32907378
66Atrophy/Degeneration involving motor neurons (HP:0007373)2.32860585
67Anencephaly (HP:0002323)2.32492892
68Absent rod-and cone-mediated responses on ERG (HP:0007688)2.28879941
69* Abnormality of the preputium (HP:0100587)2.27129763
70Myositis (HP:0100614)2.26779599
71Genital tract atresia (HP:0001827)2.26490380
72Retrobulbar optic neuritis (HP:0100654)2.26089012
73Optic neuritis (HP:0100653)2.26089012
74Congenital hepatic fibrosis (HP:0002612)2.24795993
75Broad distal phalanx of finger (HP:0009836)2.24171708
76Recurrent viral infections (HP:0004429)2.22881612
77Vaginal atresia (HP:0000148)2.22218706
78Severe visual impairment (HP:0001141)2.21969349
79Recurrent otitis media (HP:0000403)2.21491851
80Postaxial foot polydactyly (HP:0001830)2.21088892
81Recurrent bronchitis (HP:0002837)2.20956278
82Skull defect (HP:0001362)2.20125563
83Ependymoma (HP:0002888)2.17548267
84* Abnormality of DNA repair (HP:0003254)2.17509643
85Heterotopia (HP:0002282)2.17195149
86Nephrogenic diabetes insipidus (HP:0009806)2.16902203
87Amyotrophic lateral sclerosis (HP:0007354)2.15436205
88Concave nail (HP:0001598)2.15136447
89Abnormal delayed hypersensitivity skin test (HP:0002963)2.14038145
90Acute lymphatic leukemia (HP:0006721)2.13347321
91* Aplasia/Hypoplasia of the uvula (HP:0010293)2.12610065
92Renal cortical cysts (HP:0000803)2.12115445
93Recurrent sinusitis (HP:0011108)2.11979351
94Optic nerve hypoplasia (HP:0000609)2.11602185
95Methylmalonic aciduria (HP:0012120)2.11259091
96Fair hair (HP:0002286)2.10261208
97Rhinitis (HP:0012384)2.09162400
98Acute myeloid leukemia (HP:0004808)2.07537154
99Chorioretinal atrophy (HP:0000533)2.07451579
100Aplasia/Hypoplasia of the tibia (HP:0005772)2.07341441
101* Meckel diverticulum (HP:0002245)2.06443127
102Abnormal neuron morphology (HP:0012757)2.06364242
103Abnormality of the motor neurons (HP:0002450)2.06364242
104Genetic anticipation (HP:0003743)2.05625799
105Neuroblastoma (HP:0003006)2.05395355
106Primitive neuroectodermal tumor (HP:0030065)2.05395355
107Neuroblastic tumors (HP:0004376)2.05395355
108Peripheral primitive neuroectodermal neoplasm (HP:0030067)2.05395355
109Congenital, generalized hypertrichosis (HP:0004540)2.04481353
110Abnormality of alanine metabolism (HP:0010916)2.03988192
111Hyperalaninemia (HP:0003348)2.03988192
112Abnormality of pyruvate family amino acid metabolism (HP:0010915)2.03988192
113Large for gestational age (HP:0001520)2.03343933
114Aplasia/Hypoplasia of the optic nerve (HP:0008058)2.01366398
115* Abnormality of the ileum (HP:0001549)2.00546753
116Amaurosis fugax (HP:0100576)1.99555258
117Hyperventilation (HP:0002883)1.99148250
118Abnormal hair whorl (HP:0010721)1.98056703
119Polyuria (HP:0000103)1.97963939
120Cerebellar dysplasia (HP:0007033)1.97768169
121Bony spicule pigmentary retinopathy (HP:0007737)1.97084956
122Bile duct proliferation (HP:0001408)1.95612616
123Abnormal biliary tract physiology (HP:0012439)1.95612616
124Impaired smooth pursuit (HP:0007772)1.95420253
125Asplenia (HP:0001746)1.94481043
126Thrombocytosis (HP:0001894)1.94292910
127Acute necrotizing encephalopathy (HP:0006965)1.92870178
128Chromosomal breakage induced by crosslinking agents (HP:0003221)1.92699447
129Aplasia/Hypoplasia of the spleen (HP:0010451)1.92365766
130Lissencephaly (HP:0001339)1.90521556
131* Clubbing of toes (HP:0100760)1.89334131
132Small hand (HP:0200055)1.89326182
133Inability to walk (HP:0002540)1.88967508
134Urethral obstruction (HP:0000796)1.88543227
135* Abnormality of chromosome stability (HP:0003220)1.88022677
136Abnormality of the labia minora (HP:0012880)1.86665272
137Septo-optic dysplasia (HP:0100842)1.86138161
138Postaxial hand polydactyly (HP:0001162)1.85252825
139Personality changes (HP:0000751)1.85084587
140Intestinal fistula (HP:0100819)1.85071368
141Febrile seizures (HP:0002373)1.84472699
142Lymphoma (HP:0002665)1.82842050
143Impaired platelet aggregation (HP:0003540)1.82546214
144Abnormal platelet function (HP:0011869)1.82546214
145Preaxial hand polydactyly (HP:0001177)1.81434572
146Gastrointestinal inflammation (HP:0004386)1.79542290
147IgM deficiency (HP:0002850)1.79005367
148Congenital sensorineural hearing impairment (HP:0008527)1.78774288
149T lymphocytopenia (HP:0005403)1.76671628
150Patellar aplasia (HP:0006443)1.76080245
151Abnormality of B cell number (HP:0010975)1.74966979
152B lymphocytopenia (HP:0010976)1.74966979
153Supernumerary spleens (HP:0009799)1.74750565
154Protruding tongue (HP:0010808)1.73778895
155Abnormality of the renal collecting system (HP:0004742)1.73503877
156Clumsiness (HP:0002312)1.72997792
157Inflammation of the large intestine (HP:0002037)1.72904873
158Truncal ataxia (HP:0002078)1.72481548
159Mitochondrial inheritance (HP:0001427)1.71112922
160Increased circulating renin level (HP:0000848)1.70249948
161* Cafe-au-lait spot (HP:0000957)1.70153597
162Increased CSF lactate (HP:0002490)1.69798792
163Progressive macrocephaly (HP:0004481)1.68858748
164Acute encephalopathy (HP:0006846)1.68463063
165Distal lower limb muscle weakness (HP:0009053)1.68264010
166Ectopic kidney (HP:0000086)1.68216849
167Aplasia/Hypoplasia of the patella (HP:0006498)1.67903486
168Short tibia (HP:0005736)1.67890971
169Dandy-Walker malformation (HP:0001305)1.67050045
170Nephronophthisis (HP:0000090)1.66977533
171Aplasia/hypoplasia of the uterus (HP:0008684)1.66852729
172Hand muscle atrophy (HP:0009130)1.66630239
173Recurrent fungal infections (HP:0002841)1.66410698
174Encephalitis (HP:0002383)1.66308853
175Abnormality of T cells (HP:0002843)1.65980971
176Hypothermia (HP:0002045)1.65824939
177Progressive cerebellar ataxia (HP:0002073)1.65696610
178Gaze-evoked nystagmus (HP:0000640)1.65635939
179Chronic diarrhea (HP:0002028)1.65164909
180Self-mutilation (HP:0000742)1.64834596
181Atonic seizures (HP:0010819)1.64670440
182* Oligohydramnios (HP:0001562)1.64105485
183Abnormality of the sella turcica (HP:0002679)1.63673347
184Tubulointerstitial abnormality (HP:0001969)1.63601303
185Abnormal urine output (HP:0012590)1.63346651
186Squamous cell carcinoma (HP:0002860)1.63302003
187Intestinal atresia (HP:0011100)1.63199993
188Chromsome breakage (HP:0040012)1.62499335
189Pachygyria (HP:0001302)1.61945509
190Specific learning disability (HP:0001328)1.60606804

Predicted kinase interactions (KEA)

RankGene SetZ-score
1FRK4.41536681
2SIK34.01321982
3EEF2K3.77321651
4SIK23.24119650
5PINK13.09475195
6MAPK152.90028525
7TYRO32.82629539
8WNK32.81520146
9MAP4K12.78132577
10NEK22.72095325
11BMPR1B2.68519017
12TLK12.51748894
13ZAK2.46123678
14TAOK22.32848951
15GRK12.32706009
16WNK42.26010973
17PDK32.25658508
18PDK42.25658508
19INSRR2.21791473
20MAP4K22.20053548
21CDK122.09649705
22NUAK11.95504499
23ACVR1B1.90402638
24VRK11.84125246
25FGFR41.73831406
26MAPK131.73648774
27TXK1.70137937
28PRPF4B1.69666705
29IRAK31.69169776
30RPS6KA41.69018026
31NTRK31.67307941
32PLK41.66166307
33STK391.63677227
34TAOK11.58718093
35SGK31.57438887
36WEE11.54161173
37PDK21.53300837
38TSSK61.49796528
39BRD41.47879151
40NTRK21.45679869
41MARK31.42477133
42STK101.34316168
43PLK21.34254509
44BCKDK1.32608666
45TRIM281.30057165
46RPS6KB21.28881990
47SGK21.26654738
48MAP3K91.26381823
49IKBKE1.21970979
50TNIK1.21855726
51TAOK31.21322415
52OXSR11.18544490
53ADRBK21.18340217
54FES1.17053840
55TESK21.16085462
56MARK21.15516618
57RAF11.15474077
58MARK11.13783469
59STK38L1.13072522
60MKNK21.12297852
61MAP3K41.11574725
62DYRK21.10639111
63ITK1.10563989
64PAK61.07680984
65TIE11.05317780
66CDK31.04555077
67CAMKK21.03200023
68KIT1.01789926
69VRK21.01404939
70EIF2AK31.00959178
71TNK21.00344595
72CDK190.99229312
73MUSK0.97782674
74STK380.95649585
75TTK0.95564199
76AKT30.95503344
77MAPKAPK30.93257548
78PRKCE0.93214351
79PASK0.93139392
80CAMK1G0.91382009
81PRKCG0.90710589
82PAK30.90638434
83GRK60.88063234
84PNCK0.87808850
85CLK10.86909856
86ADRBK10.85611730
87TAF10.84303133
88OBSCN0.83254639
89HCK0.83001067
90MAP2K70.82756339
91KSR10.79399738
92PLK30.78197509
93ALK0.77970220
94BRSK20.77942402
95FGFR20.77859052
96TGFBR10.77490497
97FGFR30.76936255
98NME10.75249229
99CSF1R0.74580767
100CSNK1G20.74448158
101SIK10.72748572
102MAP3K110.72666320
103MAP2K30.71870911
104LCK0.71716868
105CHEK20.71405872
106MAP3K100.71349604
107CSNK1G10.70168292
108CDC70.69373448
109PTK2B0.68413954
110DYRK1A0.67011775
111MINK10.66964122
112ZAP700.65947299
113TYK20.65323687
114SYK0.65029342
115CSNK1G30.63053516
116PLK10.62309792
117SGK2230.61380218
118SGK4940.61380218
119ICK0.59588949
120CAMK1D0.59428932
121PDGFRA0.58390914
122MAPKAPK50.57349814
123TBK10.57037047
124CHEK10.56730143
125CAMK10.56426475
126TEC0.55735078
127PHKG10.55509848
128PHKG20.55509848
129BTK0.55064299
130CAMK40.54730059
131NEK90.54666394
132PIM10.53947409
133MST40.52948747
134PDK10.52408512
135CASK0.51988008
136RPS6KA50.51635723
137CSNK1A1L0.50505163
138JAK10.50243951
139MAP3K80.50232383
140PKN20.48637780
141LYN0.48271374
142ATR0.47531482
143KSR20.47229122
144PRKCQ0.47185443
145CDK20.46187005
146CAMK2A0.46117244
147JAK30.45420691
148BUB10.44829832
149CSNK1A10.44304441
150NLK0.44248797
151BRSK10.43187927
152PRKACA0.43187916
153PIK3CA0.42617047
154MKNK10.42151026
155MAP2K40.41955099
156BCR0.41787100
157IKBKB0.41311144
158PKN10.41250308
159ATM0.40860890
160MAPK70.40187167
161DAPK10.39984602
162ERBB30.39868321
163DAPK20.39709351
164WNK10.37854901
165PRKCH0.36441986
166STK160.35490236
167PRKAA10.35340834
168CCNB10.33708004
169EPHA40.33577059
170FLT30.32181025
171CSNK1D0.31616131
172PRKG10.30873174
173STK30.29820883
174MAP2K60.28625349
175GRK70.28052166

Predicted pathways (KEGG)

RankGene SetZ-score
1Primary immunodeficiency_Homo sapiens_hsa053402.88839484
2Synthesis and degradation of ketone bodies_Homo sapiens_hsa000722.73090899
3Phototransduction_Homo sapiens_hsa047442.66899259
4Mismatch repair_Homo sapiens_hsa034302.64522674
5Oxidative phosphorylation_Homo sapiens_hsa001902.49361303
6DNA replication_Homo sapiens_hsa030302.42779828
7Nitrogen metabolism_Homo sapiens_hsa009102.17231070
8Butanoate metabolism_Homo sapiens_hsa006502.14751384
9Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005632.14462692
10Maturity onset diabetes of the young_Homo sapiens_hsa049502.13866264
11Selenocompound metabolism_Homo sapiens_hsa004502.10345102
12Protein export_Homo sapiens_hsa030602.06691091
13* Fanconi anemia pathway_Homo sapiens_hsa034602.03247884
14Parkinsons disease_Homo sapiens_hsa050122.02149710
15Base excision repair_Homo sapiens_hsa034101.98236999
16Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001301.95897012
17Neuroactive ligand-receptor interaction_Homo sapiens_hsa040801.93440883
18T cell receptor signaling pathway_Homo sapiens_hsa046601.86048283
19Spliceosome_Homo sapiens_hsa030401.81963350
20Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030081.78323906
21Propanoate metabolism_Homo sapiens_hsa006401.78058480
22B cell receptor signaling pathway_Homo sapiens_hsa046621.72276081
23Cell cycle_Homo sapiens_hsa041101.71966436
24RNA transport_Homo sapiens_hsa030131.69132188
25Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006031.64590095
26Linoleic acid metabolism_Homo sapiens_hsa005911.63918239
27Non-homologous end-joining_Homo sapiens_hsa034501.62863189
28Natural killer cell mediated cytotoxicity_Homo sapiens_hsa046501.62695400
29Huntingtons disease_Homo sapiens_hsa050161.57731838
30* Nucleotide excision repair_Homo sapiens_hsa034201.56508824
31Nicotine addiction_Homo sapiens_hsa050331.54148493
32Tryptophan metabolism_Homo sapiens_hsa003801.54082886
33mRNA surveillance pathway_Homo sapiens_hsa030151.53655651
34Fc gamma R-mediated phagocytosis_Homo sapiens_hsa046661.48525303
35Cardiac muscle contraction_Homo sapiens_hsa042601.44352617
36Valine, leucine and isoleucine degradation_Homo sapiens_hsa002801.43124563
37RNA degradation_Homo sapiens_hsa030181.41384917
38alpha-Linolenic acid metabolism_Homo sapiens_hsa005921.40999946
39Fc epsilon RI signaling pathway_Homo sapiens_hsa046641.40323205
40Antigen processing and presentation_Homo sapiens_hsa046121.37150023
41Phosphatidylinositol signaling system_Homo sapiens_hsa040701.36669327
42Oocyte meiosis_Homo sapiens_hsa041141.36615776
43Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006011.36540815
44Long-term potentiation_Homo sapiens_hsa047201.36302721
45Ascorbate and aldarate metabolism_Homo sapiens_hsa000531.33045314
46Alzheimers disease_Homo sapiens_hsa050101.32192099
47Chemical carcinogenesis_Homo sapiens_hsa052041.28595858
48Measles_Homo sapiens_hsa051621.26941095
49Homologous recombination_Homo sapiens_hsa034401.26331310
50Glutamatergic synapse_Homo sapiens_hsa047241.25855605
51p53 signaling pathway_Homo sapiens_hsa041151.23604207
52Other types of O-glycan biosynthesis_Homo sapiens_hsa005141.21571718
53Circadian entrainment_Homo sapiens_hsa047131.19079317
54Primary bile acid biosynthesis_Homo sapiens_hsa001201.15881605
55Hedgehog signaling pathway_Homo sapiens_hsa043401.15604051
56Terpenoid backbone biosynthesis_Homo sapiens_hsa009001.13872494
57Drug metabolism - cytochrome P450_Homo sapiens_hsa009821.13561279
58Epstein-Barr virus infection_Homo sapiens_hsa051691.13243019
59Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049321.11651094
60Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005331.11183391
61Synaptic vesicle cycle_Homo sapiens_hsa047211.10492560
62Steroid hormone biosynthesis_Homo sapiens_hsa001401.10339607
63Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa009701.10292207
64Basal transcription factors_Homo sapiens_hsa030221.07650303
65Amphetamine addiction_Homo sapiens_hsa050311.05459308
66Taurine and hypotaurine metabolism_Homo sapiens_hsa004301.05146111
67Hematopoietic cell lineage_Homo sapiens_hsa046401.04929964
68Retrograde endocannabinoid signaling_Homo sapiens_hsa047231.04415033
69Ubiquitin mediated proteolysis_Homo sapiens_hsa041201.04257267
70Morphine addiction_Homo sapiens_hsa050321.01909867
71Retinol metabolism_Homo sapiens_hsa008301.00165258
72Ether lipid metabolism_Homo sapiens_hsa005650.99339006
73Colorectal cancer_Homo sapiens_hsa052100.98515939
74Caffeine metabolism_Homo sapiens_hsa002320.98505470
75Peroxisome_Homo sapiens_hsa041460.97726131
76RIG-I-like receptor signaling pathway_Homo sapiens_hsa046220.97224470
77Progesterone-mediated oocyte maturation_Homo sapiens_hsa049140.96198987
78Steroid biosynthesis_Homo sapiens_hsa001000.95336491
79Inositol phosphate metabolism_Homo sapiens_hsa005620.95015880
80beta-Alanine metabolism_Homo sapiens_hsa004100.93418882
81Herpes simplex infection_Homo sapiens_hsa051680.92068723
82Regulation of autophagy_Homo sapiens_hsa041400.91846350
83Dopaminergic synapse_Homo sapiens_hsa047280.89372484
84Insulin secretion_Homo sapiens_hsa049110.88829042
85Calcium signaling pathway_Homo sapiens_hsa040200.88777066
86Aldosterone synthesis and secretion_Homo sapiens_hsa049250.87129539
87Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa005320.86576938
88Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.86241423
89Hepatitis B_Homo sapiens_hsa051610.86236789
90Choline metabolism in cancer_Homo sapiens_hsa052310.86209451
91ABC transporters_Homo sapiens_hsa020100.85843201
92Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009800.84461632
93Glycolysis / Gluconeogenesis_Homo sapiens_hsa000100.84134186
94Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.83839175
95Acute myeloid leukemia_Homo sapiens_hsa052210.82933827
96Proteasome_Homo sapiens_hsa030500.82871681
97GABAergic synapse_Homo sapiens_hsa047270.82097515
98Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047500.80127162
99Vitamin digestion and absorption_Homo sapiens_hsa049770.79394407
100ErbB signaling pathway_Homo sapiens_hsa040120.78820811
101Basal cell carcinoma_Homo sapiens_hsa052170.78649897
102VEGF signaling pathway_Homo sapiens_hsa043700.78552715
103MAPK signaling pathway_Homo sapiens_hsa040100.77694747
104Long-term depression_Homo sapiens_hsa047300.77557236
105HTLV-I infection_Homo sapiens_hsa051660.77285103
106Cocaine addiction_Homo sapiens_hsa050300.77039730
107RNA polymerase_Homo sapiens_hsa030200.76456986
108Ribosome_Homo sapiens_hsa030100.76456626
109Viral carcinogenesis_Homo sapiens_hsa052030.74580048
110Non-small cell lung cancer_Homo sapiens_hsa052230.73521090
111Chronic myeloid leukemia_Homo sapiens_hsa052200.72632245
112GnRH signaling pathway_Homo sapiens_hsa049120.72450043
113Glycerolipid metabolism_Homo sapiens_hsa005610.72200104
114NF-kappa B signaling pathway_Homo sapiens_hsa040640.71874904
115Sulfur metabolism_Homo sapiens_hsa009200.71244221
116Bacterial invasion of epithelial cells_Homo sapiens_hsa051000.70007802
117Pyrimidine metabolism_Homo sapiens_hsa002400.68959478
118Vitamin B6 metabolism_Homo sapiens_hsa007500.68948993
119Taste transduction_Homo sapiens_hsa047420.67106864
120Oxytocin signaling pathway_Homo sapiens_hsa049210.66461611
121One carbon pool by folate_Homo sapiens_hsa006700.66237286
122Olfactory transduction_Homo sapiens_hsa047400.65916852
123Estrogen signaling pathway_Homo sapiens_hsa049150.65909614
124Neurotrophin signaling pathway_Homo sapiens_hsa047220.65358642
125Jak-STAT signaling pathway_Homo sapiens_hsa046300.64874159
126Cholinergic synapse_Homo sapiens_hsa047250.64830741
127Fatty acid biosynthesis_Homo sapiens_hsa000610.64796283
128Phospholipase D signaling pathway_Homo sapiens_hsa040720.63291312
129Cysteine and methionine metabolism_Homo sapiens_hsa002700.62110064
130Glioma_Homo sapiens_hsa052140.61902000
131cAMP signaling pathway_Homo sapiens_hsa040240.61518058
132Pentose phosphate pathway_Homo sapiens_hsa000300.60840366
133Serotonergic synapse_Homo sapiens_hsa047260.60747440
134Metabolic pathways_Homo sapiens_hsa011000.60460028
135Histidine metabolism_Homo sapiens_hsa003400.60179006
136Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.60016644
137Pentose and glucuronate interconversions_Homo sapiens_hsa000400.59990823
138Thyroid hormone signaling pathway_Homo sapiens_hsa049190.58917830
139Influenza A_Homo sapiens_hsa051640.58867560
140Osteoclast differentiation_Homo sapiens_hsa043800.57627671
141Notch signaling pathway_Homo sapiens_hsa043300.57587216
142Chemokine signaling pathway_Homo sapiens_hsa040620.57504148
143Endocytosis_Homo sapiens_hsa041440.56944665
144Dorso-ventral axis formation_Homo sapiens_hsa043200.55006443
145Transcriptional misregulation in cancer_Homo sapiens_hsa052020.54791543
146Salivary secretion_Homo sapiens_hsa049700.54602240
147Ovarian steroidogenesis_Homo sapiens_hsa049130.50825917
148Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049600.50102997
149Intestinal immune network for IgA production_Homo sapiens_hsa046720.50045911
150Pantothenate and CoA biosynthesis_Homo sapiens_hsa007700.49468041
151Inflammatory bowel disease (IBD)_Homo sapiens_hsa053210.49207204
152Shigellosis_Homo sapiens_hsa051310.47680406
153TGF-beta signaling pathway_Homo sapiens_hsa043500.47212689
154Circadian rhythm_Homo sapiens_hsa047100.46866013
155Sulfur relay system_Homo sapiens_hsa041220.46856784
156Purine metabolism_Homo sapiens_hsa002300.45805164
157Pyruvate metabolism_Homo sapiens_hsa006200.44342929
158Collecting duct acid secretion_Homo sapiens_hsa049660.41261845
159Arachidonic acid metabolism_Homo sapiens_hsa005900.40289131
160Renin secretion_Homo sapiens_hsa049240.38824070
161Mineral absorption_Homo sapiens_hsa049780.38623979
162Cytokine-cytokine receptor interaction_Homo sapiens_hsa040600.38598952
163Hippo signaling pathway_Homo sapiens_hsa043900.38280395
164Vascular smooth muscle contraction_Homo sapiens_hsa042700.37294007
165Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa045500.36459413
166Glycine, serine and threonine metabolism_Homo sapiens_hsa002600.34528906
167Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.33581700

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