KLHL12

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 member of the KLHL (Kelch-like) family of proteins. This protein has been identified as an autoantigen in the autoimmune disease Sjogren's syndrome and as a potential biomarker in primary biliary cirrhosis. This protein may act as a substrate adaptor of the Cullin-3 ubiquitin ligase complex to promote substrate-specific ubiquitylation. Ubiquitylation by this complex has been shown to regulate the Wnt signaling pathway as well as COPII vesicle coat size. A pseudogene has been identified on chromosome 22. Alternative splicing results in multiple transcript variants. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1nuclear pore complex assembly (GO:0051292)5.81408524
2nuclear pore organization (GO:0006999)5.54308073
3establishment of integrated proviral latency (GO:0075713)4.61492594
4pore complex assembly (GO:0046931)4.57632606
5Golgi transport vesicle coating (GO:0048200)4.55312810
6COPI coating of Golgi vesicle (GO:0048205)4.55312810
7synapsis (GO:0007129)4.53780342
8mitotic sister chromatid cohesion (GO:0007064)4.29158146
9DNA methylation involved in gamete generation (GO:0043046)4.12839025
10* COPII vesicle coating (GO:0048208)4.11133693
11response to pheromone (GO:0019236)3.91280706
12tRNA aminoacylation for protein translation (GO:0006418)3.86636330
13establishment of viral latency (GO:0019043)3.80469838
14double-strand break repair via nonhomologous end joining (GO:0006303)3.77213688
15non-recombinational repair (GO:0000726)3.77213688
16DNA ligation (GO:0006266)3.75330759
17microtubule depolymerization (GO:0007019)3.73399300
18negative regulation of DNA-dependent DNA replication (GO:2000104)3.73142507
19amino acid activation (GO:0043038)3.71487307
20tRNA aminoacylation (GO:0043039)3.71487307
21pyrimidine nucleobase catabolic process (GO:0006208)3.64234349
22regulation of meiosis I (GO:0060631)3.62090980
23regulation of nuclear cell cycle DNA replication (GO:0033262)3.48203967
24meiotic chromosome segregation (GO:0045132)3.46966853
25regulation of Arp2/3 complex-mediated actin nucleation (GO:0034315)3.46421270
26positive regulation of meiosis (GO:0045836)3.40975307
27female gonad development (GO:0008585)3.37246033
28DNA topological change (GO:0006265)3.33618713
29somatic diversification of immune receptors via somatic mutation (GO:0002566)3.31948471
30somatic hypermutation of immunoglobulin genes (GO:0016446)3.31948471
31rRNA methylation (GO:0031167)3.29245788
32protein K6-linked ubiquitination (GO:0085020)3.25563585
33regulation of attachment of spindle microtubules to kinetochore (GO:0051988)3.22796615
34positive regulation of meiotic cell cycle (GO:0051446)3.22181150
35centriole assembly (GO:0098534)3.20094950
36positive regulation of dendritic spine morphogenesis (GO:0061003)3.18786753
37protein localization to chromosome, centromeric region (GO:0071459)3.18686449
38formation of translation preinitiation complex (GO:0001731)3.18305725
39IMP biosynthetic process (GO:0006188)3.17787341
40protein localization to chromosome (GO:0034502)3.14915305
41histone H2A acetylation (GO:0043968)3.13823832
42mitotic nuclear envelope disassembly (GO:0007077)3.13484070
43establishment of chromosome localization (GO:0051303)3.12371209
44mitotic spindle checkpoint (GO:0071174)3.11678403
45sister chromatid cohesion (GO:0007062)3.11431308
46histone H2B ubiquitination (GO:0033523)3.11248757
47protein localization to kinetochore (GO:0034501)3.10532038
48mitotic chromosome condensation (GO:0007076)3.10380630
49piRNA metabolic process (GO:0034587)3.10221934
50membrane disassembly (GO:0030397)3.08352076
51nuclear envelope disassembly (GO:0051081)3.08352076
52ribosome assembly (GO:0042255)3.08322436
53positive regulation of histone H3-K4 methylation (GO:0051571)3.06315451
54positive regulation of mitotic sister chromatid separation (GO:1901970)3.04903777
55positive regulation of mitotic metaphase/anaphase transition (GO:0045842)3.04903777
56positive regulation of metaphase/anaphase transition of cell cycle (GO:1902101)3.04903777
57rRNA modification (GO:0000154)3.03296971
58developmental pigmentation (GO:0048066)3.01321042
59negative regulation of DNA recombination (GO:0045910)2.99169360
60presynaptic membrane assembly (GO:0097105)2.99079171
61regulation of metaphase/anaphase transition of cell cycle (GO:1902099)2.98752181
62regulation of mitotic metaphase/anaphase transition (GO:0030071)2.98752181
63regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090266)2.98718468
64regulation of mitotic spindle checkpoint (GO:1903504)2.98718468
65nucleobase catabolic process (GO:0046113)2.98388054
66intraciliary transport (GO:0042073)2.98185775
67negative regulation of mitotic sister chromatid separation (GO:2000816)2.97183192
68negative regulation of sister chromatid segregation (GO:0033046)2.97183192
69negative regulation of mitotic metaphase/anaphase transition (GO:0045841)2.97183192
70negative regulation of metaphase/anaphase transition of cell cycle (GO:1902100)2.97183192
71negative regulation of mitotic sister chromatid segregation (GO:0033048)2.97183192
72regulation of histone H3-K9 methylation (GO:0051570)2.96353093
73regulation of sister chromatid segregation (GO:0033045)2.96297990
74regulation of mitotic sister chromatid separation (GO:0010965)2.96297990
75regulation of mitotic sister chromatid segregation (GO:0033047)2.96297990
76ribonucleoprotein complex disassembly (GO:0032988)2.95764319
77negative regulation of chromosome segregation (GO:0051985)2.95420731
78spindle checkpoint (GO:0031577)2.94136684
79regulation of chromosome segregation (GO:0051983)2.92307502
80de novo posttranslational protein folding (GO:0051084)2.92081584
81de novo protein folding (GO:0006458)2.91490906
82regulation of sister chromatid cohesion (GO:0007063)2.91196158
83mitotic spindle assembly checkpoint (GO:0007094)2.88903050
84chromosome organization involved in meiosis (GO:0070192)2.87963864
85* vesicle coating (GO:0006901)2.87769789
86resolution of meiotic recombination intermediates (GO:0000712)2.86319936
87spindle assembly checkpoint (GO:0071173)2.84542475
88DNA unwinding involved in DNA replication (GO:0006268)2.83242840
89positive regulation of mitochondrial membrane permeability involved in apoptotic process (GO:19021102.82112048
90mitochondrial outer membrane permeabilization involved in programmed cell death (GO:1902686)2.82112048
91DNA strand elongation (GO:0022616)2.81422142
92DNA strand elongation involved in DNA replication (GO:0006271)2.80996864
93retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)2.78170043
94attachment of spindle microtubules to kinetochore (GO:0008608)2.75847731
95sister chromatid segregation (GO:0000819)2.74519380
96RNA splicing, via endonucleolytic cleavage and ligation (GO:0000394)2.74219477
97tRNA splicing, via endonucleolytic cleavage and ligation (GO:0006388)2.74219477
98positive regulation of chromosome segregation (GO:0051984)2.73639872
99IMP metabolic process (GO:0046040)2.72012860
100reciprocal meiotic recombination (GO:0007131)2.71942711
101reciprocal DNA recombination (GO:0035825)2.71942711
102regulation of male gonad development (GO:2000018)2.71734851
103regulation of gene expression by genetic imprinting (GO:0006349)2.71561825
104deoxyribonucleoside monophosphate metabolic process (GO:0009162)2.71207606
105centriole replication (GO:0007099)2.68678565
106male meiosis (GO:0007140)2.67711769
107regulation of DNA endoreduplication (GO:0032875)2.67665952
108DNA replication-independent nucleosome organization (GO:0034724)2.67288291
109DNA replication-independent nucleosome assembly (GO:0006336)2.67288291
110chromatin remodeling at centromere (GO:0031055)2.67215220
111regulation of spindle organization (GO:0090224)2.67004371
112mRNA splice site selection (GO:0006376)2.65597733
113positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)2.65427359
114RNA export from nucleus (GO:0006405)2.65361767
115binding of sperm to zona pellucida (GO:0007339)2.64700472
116spermatid nucleus differentiation (GO:0007289)2.63524371
117purine nucleobase biosynthetic process (GO:0009113)2.63351135
118nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)2.62502836
119gene silencing by RNA (GO:0031047)2.61482883
120protein export from nucleus (GO:0006611)2.61336182
121mRNA transport (GO:0051028)2.61291126
122regulation of translational initiation (GO:0006446)2.60563204
123response to X-ray (GO:0010165)2.60181406
124maintenance of fidelity involved in DNA-dependent DNA replication (GO:0045005)2.59299521
125DNA-dependent DNA replication (GO:0006261)2.58724111
126DNA synthesis involved in DNA repair (GO:0000731)2.58717734
127RNA methylation (GO:0001510)2.58710389
128CENP-A containing nucleosome assembly (GO:0034080)2.58142264
129histone H3-K4 trimethylation (GO:0080182)2.56739118
130postsynaptic membrane organization (GO:0001941)2.56196499
131motile cilium assembly (GO:0044458)2.56149622
132regulation of timing of cell differentiation (GO:0048505)2.55706024
133kinetochore assembly (GO:0051382)2.54744898
134pyrimidine dimer repair (GO:0006290)2.54045642
135mitotic metaphase plate congression (GO:0007080)2.54039787
136replicative senescence (GO:0090399)2.53257840
137neuron cell-cell adhesion (GO:0007158)2.52670328
138negative regulation of telomere maintenance (GO:0032205)2.52587271
139telomere maintenance via telomerase (GO:0007004)2.51235183
140regulation of development, heterochronic (GO:0040034)2.50600943
141deoxyribonucleoside diphosphate metabolic process (GO:0009186)2.50409635
142presynaptic membrane organization (GO:0097090)2.50075957
143DNA replication initiation (GO:0006270)2.45947552
144microtubule polymerization or depolymerization (GO:0031109)2.44287934
145mesenchymal cell differentiation involved in kidney development (GO:0072161)2.43396135
146mesenchymal cell differentiation involved in renal system development (GO:2001012)2.43396135
147regulation of helicase activity (GO:0051095)2.41895104
148regulation of transcription from RNA polymerase I promoter (GO:0006356)2.41883878
149mismatch repair (GO:0006298)2.40060552
150cilium assembly (GO:0042384)2.38742749
151peptidyl-lysine trimethylation (GO:0018023)2.38580287
152epithelial cilium movement (GO:0003351)2.38400913
153RNA capping (GO:0036260)2.37403726
1547-methylguanosine RNA capping (GO:0009452)2.37403726
155DNA double-strand break processing (GO:0000729)2.35615347
156protein-chromophore linkage (GO:0018298)2.34785157
157axonemal dynein complex assembly (GO:0070286)2.34342834
158startle response (GO:0001964)2.34029976
159deoxyribonucleotide biosynthetic process (GO:0009263)2.33683953
160regulation of alternative mRNA splicing, via spliceosome (GO:0000381)2.33655833
161kinetochore organization (GO:0051383)2.33595739
162regulation of meiosis (GO:0040020)2.33165779
163histone exchange (GO:0043486)2.32517646
164DNA alkylation (GO:0006305)2.31957918
165DNA methylation (GO:0006306)2.31957918
166transcription elongation from RNA polymerase I promoter (GO:0006362)2.31799510
167keratinocyte development (GO:0003334)2.31554235
168dentate gyrus development (GO:0021542)2.30935286
169DNA catabolic process, exonucleolytic (GO:0000738)2.30731494
170regulation of double-strand break repair via homologous recombination (GO:0010569)2.29918725
171cilium organization (GO:0044782)2.29414117
1727-methylguanosine mRNA capping (GO:0006370)2.29286801
173ionotropic glutamate receptor signaling pathway (GO:0035235)2.29210870
174maturation of 5.8S rRNA (GO:0000460)2.29179732
175righting reflex (GO:0060013)2.29089912
176limb bud formation (GO:0060174)2.28937328
177regulation of mRNA 3-end processing (GO:0031440)2.28288769
178male sex determination (GO:0030238)2.28139375
179tRNA methylation (GO:0030488)2.26768663
180DNA damage response, detection of DNA damage (GO:0042769)2.26295074
181negative regulation of meiosis (GO:0045835)2.26041460
182cell differentiation involved in metanephros development (GO:0072202)2.25212594
183metaphase plate congression (GO:0051310)2.24593801
184regulation of histone H3-K27 methylation (GO:0061085)2.24547534
185cilium movement (GO:0003341)2.22990711
186pyrimidine deoxyribonucleotide metabolic process (GO:0009219)2.21529501
187positive regulation of protein homodimerization activity (GO:0090073)2.20425403
188negative regulation of telomerase activity (GO:0051974)2.20365367

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1GBX2_23144817_ChIP-Seq_PC3_Human3.65669811
2E2F7_22180533_ChIP-Seq_HELA_Human3.19046138
3EZH2_22144423_ChIP-Seq_EOC_Human3.11419393
4PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse3.10306863
5CREB1_15753290_ChIP-ChIP_HEK293T_Human2.98848054
6GLI1_17442700_ChIP-ChIP_MESCs_Mouse2.77695078
7GABP_17652178_ChIP-ChIP_JURKAT_Human2.74864975
8MYC_18555785_ChIP-Seq_MESCs_Mouse2.74293726
9FOXM1_23109430_ChIP-Seq_U2OS_Human2.73010313
10PRDM5_23873026_ChIP-Seq_MEFs_Mouse2.69366728
11FLI1_27457419_Chip-Seq_LIVER_Mouse2.67644245
12ZFP57_27257070_Chip-Seq_ESCs_Mouse2.50189588
13ELK1_19687146_ChIP-ChIP_HELA_Human2.48763314
14PCGF2_27294783_Chip-Seq_ESCs_Mouse2.47966736
15DCP1A_22483619_ChIP-Seq_HELA_Human2.45465968
16FOXO3_22982991_ChIP-Seq_MACROPHAGES_Mouse2.45269745
17HCFC1_20581084_ChIP-Seq_MESCs_Mouse2.44060823
18FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human2.43517629
19PADI4_21655091_ChIP-ChIP_MCF-7_Human2.42920869
20NELFA_20434984_ChIP-Seq_ESCs_Mouse2.39505219
21MYCN_21190229_ChIP-Seq_SHEP-21N_Human2.36960003
22NOTCH1_17114293_ChIP-ChIP_T-ALL_Human2.33412700
23* MYCN_18555785_ChIP-Seq_MESCs_Mouse2.31486892
24CHD1_19587682_ChIP-ChIP_MESCs_Mouse2.30349576
25GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse2.29405083
26FUS_26573619_Chip-Seq_HEK293_Human2.25795657
27TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse2.25143630
28EST1_17652178_ChIP-ChIP_JURKAT_Human2.25096144
29POU3F2_20337985_ChIP-ChIP_501MEL_Human2.23505183
30POU5F1_18555785_ChIP-Seq_MESCs_Mouse2.20427703
31* JARID1A_20064375_ChIP-Seq_MESCs_Mouse2.19298349
32ETS1_20019798_ChIP-Seq_JURKAT_Human2.16487799
33WT1_19549856_ChIP-ChIP_CCG9911_Human2.15605252
34TAF15_26573619_Chip-Seq_HEK293_Human2.13060812
35VDR_23849224_ChIP-Seq_CD4+_Human2.12658592
36IGF1R_20145208_ChIP-Seq_DFB_Human2.11036507
37EKLF_21900194_ChIP-Seq_ERYTHROCYTE_Mouse2.10962416
38ZFX_18555785_ChIP-Seq_MESCs_Mouse2.10682390
39SUZ12_27294783_Chip-Seq_NPCs_Mouse2.09126555
40MYC_19030024_ChIP-ChIP_MESCs_Mouse2.05809188
41* BMI1_23680149_ChIP-Seq_NPCS_Mouse2.01917395
42* NFE2_27457419_Chip-Seq_LIVER_Mouse2.01311083
43HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse1.99486855
44* SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.93916492
45FOXP3_21729870_ChIP-Seq_TREG_Human1.93120747
46* CREM_20920259_ChIP-Seq_GC1-SPG_Mouse1.92556987
47THAP11_20581084_ChIP-Seq_MESCs_Mouse1.92239481
48PCGF2_27294783_Chip-Seq_NPCs_Mouse1.87263478
49RNF2_27304074_Chip-Seq_NSC_Mouse1.86353510
50GABP_19822575_ChIP-Seq_HepG2_Human1.84643945
51MYC_19079543_ChIP-ChIP_MESCs_Mouse1.84151808
52E2F1_21310950_ChIP-Seq_MCF-7_Human1.82515743
53* NANOG_18555785_Chip-Seq_ESCs_Mouse1.80951228
54E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse1.79915466
55* TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse1.79633863
56EGR1_19374776_ChIP-ChIP_THP-1_Human1.76290871
57* CREB1_23762244_ChIP-Seq_HIPPOCAMPUS_Rat1.75127690
58* E2F1_18555785_ChIP-Seq_MESCs_Mouse1.74190259
59ZFP322A_24550733_ChIP-Seq_MESCs_Mouse1.72337049
60POU5F1_16153702_ChIP-ChIP_HESCs_Human1.71087049
61RBPJ_22232070_ChIP-Seq_NCS_Mouse1.71036885
62HOXB4_20404135_ChIP-ChIP_EML_Mouse1.68778264
63* E2F1_18555785_Chip-Seq_ESCs_Mouse1.68686015
64* EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse1.68502460
65* ASXL1_24218140_ChIP-Seq_BMDM_Mouse1.68106180
66* TFEB_21752829_ChIP-Seq_HELA_Human1.67728913
67EWS_26573619_Chip-Seq_HEK293_Human1.65516318
68TP63_19390658_ChIP-ChIP_HaCaT_Human1.65114483
69* TTF2_22483619_ChIP-Seq_HELA_Human1.64607283
70* P53_22387025_ChIP-Seq_ESCs_Mouse1.64496874
71* EZH2_27294783_Chip-Seq_NPCs_Mouse1.63984476
72* MYC_18358816_ChIP-ChIP_MESCs_Mouse1.63658423
73* SUZ12_18555785_Chip-Seq_ESCs_Mouse1.63528771
74AR_21909140_ChIP-Seq_LNCAP_Human1.62579038
75P300_19829295_ChIP-Seq_ESCs_Human1.62341969
76CBX2_27304074_Chip-Seq_ESCs_Mouse1.62052804
77CTBP1_25329375_ChIP-Seq_LNCAP_Human1.60781513
78ZFP42_18358816_ChIP-ChIP_MESCs_Mouse1.59782938
79CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human1.57349756
80* NMYC_18555785_Chip-Seq_ESCs_Mouse1.57098710
81* EBF1_22473956_ChIP-Seq_LYMPHODE_Mouse1.56289577
82* P300_18555785_Chip-Seq_ESCs_Mouse1.55885344
83* STAT3_18555785_Chip-Seq_ESCs_Mouse1.53561047
84SALL1_21062744_ChIP-ChIP_HESCs_Human1.51973830
85CIITA_25753668_ChIP-Seq_RAJI_Human1.51054254
86* RUNX1_27457419_Chip-Seq_LIVER_Mouse1.49544682
87YY1_21170310_ChIP-Seq_MESCs_Mouse1.49257335
88ELF1_17652178_ChIP-ChIP_JURKAT_Human1.49218549
89* CMYC_18555785_Chip-Seq_ESCs_Mouse1.49064011
90SMAD_19615063_ChIP-ChIP_OVARY_Human1.48598109
91KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human1.45842954
92KDM5A_27292631_Chip-Seq_BREAST_Human1.45265716
93CTBP2_25329375_ChIP-Seq_LNCAP_Human1.42685068
94VDR_22108803_ChIP-Seq_LS180_Human1.42232097
95* SOX2_18555785_Chip-Seq_ESCs_Mouse1.41647079
96* KLF4_18555785_Chip-Seq_ESCs_Mouse1.40575738
97* OCT4_18555785_Chip-Seq_ESCs_Mouse1.40346898
98* E2F4_21247883_ChIP-Seq_LYMPHOBLASTOID_Human1.39228297
99MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse1.38893220
100SMAD4_21799915_ChIP-Seq_A2780_Human1.38758142
101E2F4_17652178_ChIP-ChIP_JURKAT_Human1.38012268
102* ZFX_18555785_Chip-Seq_ESCs_Mouse1.36571585
103IRF1_19129219_ChIP-ChIP_H3396_Human1.35085184
104XRN2_22483619_ChIP-Seq_HELA_Human1.34202893
105* KDM5B_21448134_ChIP-Seq_MESCs_Mouse1.33536503
106CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons1.32921842
107* ESRRB_18555785_Chip-Seq_ESCs_Mouse1.31907754
108CEBPD_23245923_ChIP-Seq_MEFs_Mouse1.31634562
109SRF_21415370_ChIP-Seq_HL-1_Mouse1.30239419
110CEBPB_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.29073287
111MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse1.26060937
112JARID2_20064375_ChIP-Seq_MESCs_Mouse1.25183881
113* CTCF_18555785_Chip-Seq_ESCs_Mouse1.24745798
114PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.24615489
115MYBL2_22936984_ChIP-ChIP_MESCs_Mouse1.24574068
116* SMAD1_18555785_Chip-Seq_ESCs_Mouse1.24489935
117EZH2_27304074_Chip-Seq_ESCs_Mouse1.23142140
118STAT3_23295773_ChIP-Seq_U87_Human1.22947124
119* PU1_27457419_Chip-Seq_LIVER_Mouse1.20495849
120SMAD3_21741376_ChIP-Seq_EPCs_Human1.18672838
121ER_23166858_ChIP-Seq_MCF-7_Human1.17859184
122TCF4_23295773_ChIP-Seq_U87_Human1.16732672
123TAL1_26923725_Chip-Seq_HPCs_Mouse1.16584789
124DMRT1_21621532_ChIP-ChIP_FETAL_Ovary1.16582100
125* CRX_20693478_ChIP-Seq_RETINA_Mouse1.16402509
126NOTCH1_21737748_ChIP-Seq_TLL_Human1.15818307
127TEAD4_22529382_ChIP-Seq_TROPHECTODERM_Mouse1.14255019
128PDX1_19855005_ChIP-ChIP_MIN6_Mouse1.13760647
129* CDX2_21402776_ChIP-Seq_INTESTINAL-VILLUS_Mouse1.13000093
130* LMO2_26923725_Chip-Seq_MACROPHAGESS_Mouse1.12209544
131* HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human1.12114360
132REST_21632747_ChIP-Seq_MESCs_Mouse1.12068863
133AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human1.11953066
134PIAS1_25552417_ChIP-Seq_VCAP_Human1.11930714
135RCOR1_19997604_ChIP-ChIP_NEURONS_Mouse1.11175420
136* NANOG_21062744_ChIP-ChIP_HESCs_Human1.10685183
137CCND1_20090754_ChIP-ChIP_RETINA_Mouse1.10469300
138TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.10262236
139POU5F1_26923725_Chip-Seq_MESODERM_Mouse1.10262236
140UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human1.10173449
141YY1_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.09886980
142SOX2_19030024_ChIP-ChIP_MESCs_Mouse1.09265638
143TOP2B_26459242_ChIP-Seq_MCF-7_Human1.08932436
144SUZ12_18692474_ChIP-Seq_MESCs_Mouse1.08522189
145ERG_20887958_ChIP-Seq_HPC-7_Mouse1.08311648
146* OCT4_21477851_ChIP-Seq_ESCs_Mouse1.06933796
147RNF2_16625203_ChIP-ChIP_MESCs_Mouse1.05754565
148RUNX2_22187159_ChIP-Seq_PCA_Human1.05645059
149KLF4_18555785_ChIP-Seq_MESCs_Mouse1.05449274
150SPI1_22790984_ChIP-Seq_ERYTHROLEUKEMIA_Mouse1.04979075
151EED_16625203_ChIP-ChIP_MESCs_Mouse1.04799021
152ETV1_20927104_ChIP-Seq_GIST48_Human1.04675190
153OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.03795660
154HOXD13_18407260_ChIP-ChIP_DEVELOPING-LIMBS_Mouse1.03391792
155* TRIM28_19339689_ChIP-ChIP_MESCs_Mouse1.02400029
156SOX17_20123909_ChIP-Seq_XEN_Mouse1.01740390
157AR_21572438_ChIP-Seq_LNCaP_Human1.01665838
158CHD1_26751641_Chip-Seq_LNCaP_Human1.01619544
159CRX_20693478_ChIP-Seq_ADULT_RETINA_Mouse1.01566238
160PCGF4_22325352_ChIP-Seq_293T-Rex_Human0.99709607
161SOX9_26525672_Chip-Seq_HEART_Mouse0.99401922
162NANOG_18700969_ChIP-ChIP_MESCs_Mouse0.99369818
163* CREB1_20920259_ChIP-Seq_GC1-SPG_Mouse0.98011018
164TBL1_22424771_ChIP-Seq_293T_Human0.97015114
165GATA4_21415370_ChIP-Seq_HL-1_Mouse0.96696276
166MYC_18940864_ChIP-ChIP_HL60_Human0.96437628
167SALL4_18804426_ChIP-ChIP_MESCs_Mouse0.94476564
168NANOG_16153702_ChIP-ChIP_HESCs_Human0.93304694
169POU5F1_18358816_ChIP-ChIP_MESCs_Mouse0.90304532
170GFI1B_20887958_ChIP-Seq_HPC-7_Mouse0.90182688
171* ASH2L_23239880_ChIP-Seq_MESCs_Mouse0.90141659
172* SFPI1_20887958_ChIP-Seq_HPC-7_Mouse0.89847472
173TCFCP2L1_18555785_ChIP-Seq_MESCs_Mouse0.87922547
174SOX2_16153702_ChIP-ChIP_HESCs_Human0.85707610
175NR4A2_19515692_ChIP-ChIP_MN9D_Mouse0.85321579
176SMARCA4_20176728_ChIP-ChIP_TSCs_Mouse0.83755263
177* CEBPB_23403033_ChIP-Seq_LIVER_Mouse0.83384105
178CNOT3_19339689_ChIP-ChIP_MESCs_Mouse0.83187313
179ZNF274_21170338_ChIP-Seq_K562_Hela0.82598487
180NANOG_18555785_ChIP-Seq_MESCs_Mouse0.81189610
181BCL3_23251550_ChIP-Seq_MUSCLE_Mouse0.79154628

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0001188_hyperpigmentation3.69105660
2MP0000566_synostosis3.48138931
3MP0008877_abnormal_DNA_methylation3.33895453
4MP0003136_yellow_coat_color3.26926244
5MP0006292_abnormal_olfactory_placode3.19019363
6MP0004957_abnormal_blastocyst_morpholog3.17197463
7MP0003221_abnormal_cardiomyocyte_apopto2.79961606
8MP0003880_abnormal_central_pattern2.67065680
9MP0008058_abnormal_DNA_repair2.55205701
10MP0008007_abnormal_cellular_replicative2.43418521
11MP0000015_abnormal_ear_pigmentation2.37874190
12MP0003941_abnormal_skin_development2.31214056
13MP0005409_darkened_coat_color2.27447131
14MP0002102_abnormal_ear_morphology2.21378652
15MP0003656_abnormal_erythrocyte_physiolo2.20661444
16MP0010094_abnormal_chromosome_stability2.16245062
17MP0001730_embryonic_growth_arrest2.12967880
18MP0003111_abnormal_nucleus_morphology2.01962699
19MP0006035_abnormal_mitochondrial_morpho1.97483411
20MP0000358_abnormal_cell_content/1.81320220
21MP0010352_gastrointestinal_tract_polyps1.80701192
22MP0005646_abnormal_pituitary_gland1.80175058
23MP0004147_increased_porphyrin_level1.78355748
24MP0000350_abnormal_cell_proliferation1.77818424
25MP0006072_abnormal_retinal_apoptosis1.75333143
26MP0001986_abnormal_taste_sensitivity1.75123312
27MP0003787_abnormal_imprinting1.73074545
28MP0005380_embryogenesis_phenotype1.71803834
29MP0001672_abnormal_embryogenesis/_devel1.71803834
30MP0010307_abnormal_tumor_latency1.68532841
31MP0002735_abnormal_chemical_nociception1.68438586
32MP0005171_absent_coat_pigmentation1.66490793
33MP0004197_abnormal_fetal_growth/weight/1.64622633
34MP0005379_endocrine/exocrine_gland_phen1.61705184
35MP0002084_abnormal_developmental_patter1.55490016
36MP0003984_embryonic_growth_retardation1.54338344
37MP0008995_early_reproductive_senescence1.53489315
38MP0002088_abnormal_embryonic_growth/wei1.53473419
39MP0001697_abnormal_embryo_size1.51854439
40MP0002080_prenatal_lethality1.48897397
41MP0005248_abnormal_Harderian_gland1.48552315
42MP0001486_abnormal_startle_reflex1.46413312
43MP0005645_abnormal_hypothalamus_physiol1.46390388
44MP0005551_abnormal_eye_electrophysiolog1.45883099
45MP0003718_maternal_effect1.42578876
46MP0001529_abnormal_vocalization1.39971660
47MP0002160_abnormal_reproductive_system1.38939155
48MP0004381_abnormal_hair_follicle1.38127185
49MP0002876_abnormal_thyroid_physiology1.37164013
50MP0009703_decreased_birth_body1.37151344
51MP0002163_abnormal_gland_morphology1.36283091
52MP0002132_abnormal_respiratory_system1.34805303
53MP0005174_abnormal_tail_pigmentation1.33856801
54MP0008057_abnormal_DNA_replication1.33702888
55MP0005384_cellular_phenotype1.33372222
56MP0010234_abnormal_vibrissa_follicle1.33172474
57MP0009672_abnormal_birth_weight1.31405219
58MP0000631_abnormal_neuroendocrine_gland1.31397717
59MP0000313_abnormal_cell_death1.31093138
60MP0002210_abnormal_sex_determination1.31057070
61MP0003567_abnormal_fetal_cardiomyocyte1.30956477
62MP0002095_abnormal_skin_pigmentation1.28519510
63MP0002272_abnormal_nervous_system1.28427274
64MP0005423_abnormal_somatic_nervous1.27986301
65MP0004859_abnormal_synaptic_plasticity1.27332385
66MP0005253_abnormal_eye_physiology1.27106669
67MP0008789_abnormal_olfactory_epithelium1.26956615
68MP0002090_abnormal_vision1.26579176
69MP0002085_abnormal_embryonic_tissue1.24984451
70MP0001968_abnormal_touch/_nociception1.24902231
71MP0003693_abnormal_embryo_hatching1.24747420
72MP0009745_abnormal_behavioral_response1.24415839
73MP0001984_abnormal_olfaction1.23833374
74MP0005394_taste/olfaction_phenotype1.23513514
75MP0005499_abnormal_olfactory_system1.23513514
76MP0006276_abnormal_autonomic_nervous1.22208463
77MP0000372_irregular_coat_pigmentation1.21945067
78MP0003786_premature_aging1.21743609
79MP0000778_abnormal_nervous_system1.21007154
80MP0002572_abnormal_emotion/affect_behav1.18509452
81MP0010386_abnormal_urinary_bladder1.18312308
82MP0001929_abnormal_gametogenesis1.16234914
83MP0002009_preneoplasia1.16003217
84MP0003635_abnormal_synaptic_transmissio1.15406750
85MP0002736_abnormal_nociception_after1.15106102
86MP0002734_abnormal_mechanical_nocicepti1.14900403
87MP0003698_abnormal_male_reproductive1.13243353
88MP0009379_abnormal_foot_pigmentation1.11865437
89MP0001963_abnormal_hearing_physiology1.10014068
90MP0000026_abnormal_inner_ear1.09731033
91MP0002067_abnormal_sensory_capabilities1.09567072
92MP0003890_abnormal_embryonic-extraembry1.09105514
93MP0004811_abnormal_neuron_physiology1.07876371
94MP0002638_abnormal_pupillary_reflex1.07340794
95MP0002063_abnormal_learning/memory/cond1.07213399
96MP0005621_abnormal_cell_physiology1.07053932
97MP0002086_abnormal_extraembryonic_tissu1.06678552
98MP0001502_abnormal_circadian_rhythm1.05836999
99MP0000049_abnormal_middle_ear1.05716622
100MP0004264_abnormal_extraembryonic_tissu1.04342999
101MP0004270_analgesia1.03356321
102MP0001440_abnormal_grooming_behavior1.03119159
103MP0005451_abnormal_body_composition1.02691801
104MP0001485_abnormal_pinna_reflex1.02384181
105MP0002752_abnormal_somatic_nervous1.02316302
106MP0002233_abnormal_nose_morphology1.02305407
107MP0000678_abnormal_parathyroid_gland1.01222282
108MP0002177_abnormal_outer_ear1.00305958
109MP0009046_muscle_twitch1.00216090
110MP0004233_abnormal_muscle_weight0.99977703
111MP0001145_abnormal_male_reproductive0.99215864
112MP0002557_abnormal_social/conspecific_i0.98725202
113MP0002277_abnormal_respiratory_mucosa0.97899584
114MP0003938_abnormal_ear_development0.97270875
115MP0008932_abnormal_embryonic_tissue0.96198457
116MP0002751_abnormal_autonomic_nervous0.95671444
117MP0005389_reproductive_system_phenotype0.95475725
118MP0000653_abnormal_sex_gland0.95470598
119MP0004742_abnormal_vestibular_system0.94421320
120MP0002877_abnormal_melanocyte_morpholog0.93229733
121MP0002184_abnormal_innervation0.92833707
122MP0003937_abnormal_limbs/digits/tail_de0.92404713
123MP0003077_abnormal_cell_cycle0.92357247
124MP0000955_abnormal_spinal_cord0.91597814
125MP0008260_abnormal_autophagy0.91340093
126MP0001346_abnormal_lacrimal_gland0.90006725
127MP0001293_anophthalmia0.89666233
128MP0004145_abnormal_muscle_electrophysio0.89231896
129MP0005410_abnormal_fertilization0.89094405
130MP0003121_genomic_imprinting0.88006133
131MP0002249_abnormal_larynx_morphology0.87595601
132MP0003861_abnormal_nervous_system0.86294101
133MP0002882_abnormal_neuron_morphology0.84982092
134MP0001905_abnormal_dopamine_level0.84894934
135MP0000516_abnormal_urinary_system0.84697501
136MP0005367_renal/urinary_system_phenotyp0.84697501
137MP0000681_abnormal_thyroid_gland0.84649486
138MP0002064_seizures0.84517140
139MP0005075_abnormal_melanosome_morpholog0.83061971
140MP0001727_abnormal_embryo_implantation0.82461780
141MP0003186_abnormal_redox_activity0.82024916
142MP0005501_abnormal_skin_physiology0.80906689
143MP0002161_abnormal_fertility/fecundity0.80448660
144MP0002269_muscular_atrophy0.78001324
145MP0001119_abnormal_female_reproductive0.76488648
146MP0002909_abnormal_adrenal_gland0.73763721
147MP0001542_abnormal_bone_strength0.73272526
148MP0006036_abnormal_mitochondrial_physio0.72436801
149MP0003385_abnormal_body_wall0.71374276
150MP0004808_abnormal_hematopoietic_stem0.69846750
151MP0001915_intracranial_hemorrhage0.69360063
152MP0003699_abnormal_female_reproductive0.67962752
153MP0000465_gastrointestinal_hemorrhage0.64407859
154MP0003935_abnormal_craniofacial_develop0.62657325
155MP0000490_abnormal_crypts_of0.61341573
156MP0000647_abnormal_sebaceous_gland0.60414368
157MP0000747_muscle_weakness0.58651470
158MP0001191_abnormal_skin_condition0.56815085
159MP0002152_abnormal_brain_morphology0.55917198
160MP0004924_abnormal_behavior0.52756377

Predicted human phenotypes

RankGene SetZ-score
1Cortical dysplasia (HP:0002539)4.98442610
2Chromosomal breakage induced by crosslinking agents (HP:0003221)4.88847436
3Chromsome breakage (HP:0040012)4.27870771
4Papillary thyroid carcinoma (HP:0002895)3.86497252
5Ependymoma (HP:0002888)3.82870391
6Febrile seizures (HP:0002373)3.42428300
7Thyroid carcinoma (HP:0002890)3.32484515
8Dynein arm defect of respiratory motile cilia (HP:0012255)3.31403060
9Absent/shortened dynein arms (HP:0200106)3.31403060
10Medulloblastoma (HP:0002885)3.30562236
11Birth length less than 3rd percentile (HP:0003561)3.27874589
12Osteomalacia (HP:0002749)3.23795195
13Duplicated collecting system (HP:0000081)3.17424616
14Respiratory insufficiency due to defective ciliary clearance (HP:0200073)3.15133735
15Abnormality of the renal collecting system (HP:0004742)3.08307266
16Abnormality of the astrocytes (HP:0100707)3.08071799
17Astrocytoma (HP:0009592)3.08071799
18Severe visual impairment (HP:0001141)2.97338464
19Colon cancer (HP:0003003)2.91834866
20Abnormal isoelectric focusing of serum transferrin (HP:0003160)2.88115524
21Abnormal protein N-linked glycosylation (HP:0012347)2.88115524
22Abnormal protein glycosylation (HP:0012346)2.88115524
23Abnormal glycosylation (HP:0012345)2.88115524
24Agnosia (HP:0010524)2.86347065
25Cerebral hypomyelination (HP:0006808)2.84956583
26Glioma (HP:0009733)2.80593284
27Focal motor seizures (HP:0011153)2.80431867
28Increased nuchal translucency (HP:0010880)2.80106640
29Pancreatic fibrosis (HP:0100732)2.79558620
30Abnormal respiratory epithelium morphology (HP:0012253)2.78932254
31Abnormal respiratory motile cilium morphology (HP:0005938)2.78932254
32Dry hair (HP:0011359)2.78128449
33Rhabdomyosarcoma (HP:0002859)2.77048221
34Peripheral hypomyelination (HP:0007182)2.75431417
35Abnormal ciliary motility (HP:0012262)2.74924615
36Abnormality of the preputium (HP:0100587)2.65421299
37Postnatal microcephaly (HP:0005484)2.62957314
38Decreased number of large peripheral myelinated nerve fibers (HP:0003387)2.60027731
39Autoamputation (HP:0001218)2.57613799
40Atrophy/Degeneration involving the corticospinal tracts (HP:0007372)2.56364867
41Degeneration of the lateral corticospinal tracts (HP:0002314)2.56364867
42Nephronophthisis (HP:0000090)2.56160187
43Insidious onset (HP:0003587)2.55457291
44Termporal pattern (HP:0011008)2.55457291
45True hermaphroditism (HP:0010459)2.55451205
46Aplasia/Hypoplasia of the uvula (HP:0010293)2.47890481
47Impaired vibration sensation in the lower limbs (HP:0002166)2.44661805
48Atrophy/Degeneration involving motor neurons (HP:0007373)2.44100782
49Abnormal respiratory motile cilium physiology (HP:0012261)2.43665264
50Epileptic encephalopathy (HP:0200134)2.42959761
51Hypoplastic pelvis (HP:0008839)2.41381866
52Abnormal sex determination (HP:0012244)2.38567192
53Sex reversal (HP:0012245)2.38567192
54Abnormality of DNA repair (HP:0003254)2.38501800
55Lip pit (HP:0100267)2.38161246
56CNS hypomyelination (HP:0003429)2.37386870
57Septo-optic dysplasia (HP:0100842)2.35421440
58Pancreatic cysts (HP:0001737)2.34543029
59Meckel diverticulum (HP:0002245)2.34220745
60Abnormality of the ileum (HP:0001549)2.34126511
61Amyotrophic lateral sclerosis (HP:0007354)2.34081682
62Medial flaring of the eyebrow (HP:0010747)2.33050859
63Urinary urgency (HP:0000012)2.32175940
64Median cleft lip (HP:0000161)2.31488528
65Type I transferrin isoform profile (HP:0003642)2.31017260
66Hepatoblastoma (HP:0002884)2.30076153
67Cholecystitis (HP:0001082)2.27264630
68Abnormal gallbladder physiology (HP:0012438)2.27264630
69Neoplasm of the small intestine (HP:0100833)2.26703466
70Abnormality of chromosome stability (HP:0003220)2.26601552
71Abnormality of midbrain morphology (HP:0002418)2.26425095
72Molar tooth sign on MRI (HP:0002419)2.26425095
73Abnormality of the corticospinal tract (HP:0002492)2.25632654
74Abnormality of the renal medulla (HP:0100957)2.22685996
75Progressive external ophthalmoplegia (HP:0000590)2.20254167
76Ectopic kidney (HP:0000086)2.19454032
77Congenital stationary night blindness (HP:0007642)2.17932162
78Hypothermia (HP:0002045)2.17449469
79Aplasia/hypoplasia of the uterus (HP:0008684)2.16609258
80Abnormal lung lobation (HP:0002101)2.16447488
81Upper limb muscle weakness (HP:0003484)2.16029993
82Degeneration of anterior horn cells (HP:0002398)2.15908133
83Abnormality of the anterior horn cell (HP:0006802)2.15908133
84Tubulointerstitial nephritis (HP:0001970)2.09531263
85Patchy hypopigmentation of hair (HP:0011365)2.09203785
86Preaxial hand polydactyly (HP:0001177)2.08408167
87Abnormality of the hip-girdle musculature (HP:0001445)2.06694447
88Abnormality of the musculature of the pelvis (HP:0001469)2.06694447
89Abnormality of the heme biosynthetic pathway (HP:0010472)2.06670040
90Horizontal nystagmus (HP:0000666)2.06015011
91Neoplasm of the colon (HP:0100273)2.05648948
92Microvesicular hepatic steatosis (HP:0001414)2.05313307
93Chronic hepatic failure (HP:0100626)2.04703209
94Male pseudohermaphroditism (HP:0000037)2.04493387
95Rimmed vacuoles (HP:0003805)2.03148057
96Intestinal atresia (HP:0011100)2.02558155
97Abnormality of macular pigmentation (HP:0008002)2.00925800
98Aplasia/Hypoplasia of the fovea (HP:0008060)1.98170407
99Hypoplasia of the fovea (HP:0007750)1.98170407
100Entropion (HP:0000621)1.98150279
101Progressive inability to walk (HP:0002505)1.95939408
102Abnormal spermatogenesis (HP:0008669)1.95524568
103Hyperglycinemia (HP:0002154)1.94459067
104Abnormality of the labia minora (HP:0012880)1.94059154
105Shoulder girdle muscle weakness (HP:0003547)1.92933513
106Absent radius (HP:0003974)1.92201772
107Supernumerary spleens (HP:0009799)1.91999682
108Neoplasm of the thyroid gland (HP:0100031)1.90727504
109Large earlobe (HP:0009748)1.90534717
110Tetraparesis (HP:0002273)1.89742808
111Spastic diplegia (HP:0001264)1.89248918
112Protruding tongue (HP:0010808)1.88446957
113Neoplasm of striated muscle (HP:0009728)1.86717259
114Aplasia involving forearm bones (HP:0009822)1.86267768
115Absent forearm bone (HP:0003953)1.86267768
116Neoplasm of the adrenal gland (HP:0100631)1.85635552
117Atelectasis (HP:0100750)1.84700824
118Curly hair (HP:0002212)1.84455775
119Hypsarrhythmia (HP:0002521)1.83571918
120Lower limb muscle weakness (HP:0007340)1.83494143
121Deep philtrum (HP:0002002)1.83236978
122Nephrogenic diabetes insipidus (HP:0009806)1.82985256
123Nephroblastoma (Wilms tumor) (HP:0002667)1.82928412
124Breast carcinoma (HP:0003002)1.82410803
125Breast hypoplasia (HP:0003187)1.81397884
126Patellar aplasia (HP:0006443)1.80895790
127Optic nerve hypoplasia (HP:0000609)1.80364577
128Biliary tract neoplasm (HP:0100574)1.79986984
129Absent septum pellucidum (HP:0001331)1.79745722
130Intention tremor (HP:0002080)1.78888581
131Ankle clonus (HP:0011448)1.77916915
132Gait imbalance (HP:0002141)1.77915883
133Aplasia/Hypoplasia of the sternum (HP:0006714)1.77863713
134Freckling (HP:0001480)1.77299351
135Astigmatism (HP:0000483)1.76471200
136Aganglionic megacolon (HP:0002251)1.75966794
137Heterochromia iridis (HP:0001100)1.75589637
138Rib fusion (HP:0000902)1.74074543
139Abnormality of glycolysis (HP:0004366)1.73091303
140Exercise-induced muscle cramps (HP:0003710)1.73076378
141Abnormality of the carotid arteries (HP:0005344)1.72875353
142Popliteal pterygium (HP:0009756)1.72378465
143Chronic bronchitis (HP:0004469)1.72344904
144Azoospermia (HP:0000027)1.71264604
145Cafe-au-lait spot (HP:0000957)1.70918531
146Hypergonadotropic hypogonadism (HP:0000815)1.70833439
147EEG with generalized epileptiform discharges (HP:0011198)1.70683660
148Abnormality of the septum pellucidum (HP:0007375)1.70369962
149Orthostatic hypotension (HP:0001278)1.70267470
150Neoplasm of the oral cavity (HP:0100649)1.69722464
151Methylmalonic acidemia (HP:0002912)1.69572944
152Pelvic girdle muscle weakness (HP:0003749)1.69516380
153Muscular hypotonia of the trunk (HP:0008936)1.69379845
154Embryonal neoplasm (HP:0002898)1.68641389
155Gonadotropin excess (HP:0000837)1.68471135
156Abnormality of methionine metabolism (HP:0010901)1.68365973
157Prostate neoplasm (HP:0100787)1.68110390
158Neoplasm of the rectum (HP:0100743)1.67942637
159Embryonal renal neoplasm (HP:0011794)1.67811310
160Failure to thrive in infancy (HP:0001531)1.67286897
161Congenital primary aphakia (HP:0007707)1.67063229
162Decreased central vision (HP:0007663)1.67046283
163Myelodysplasia (HP:0002863)1.65591080
164Hypokinesia (HP:0002375)1.65047478
165Gastrointestinal carcinoma (HP:0002672)1.64795804
166Malignant gastrointestinal tract tumors (HP:0006749)1.64795804
167Cupped ear (HP:0000378)1.64546060
168Epileptiform EEG discharges (HP:0011182)1.64090629
169Hand muscle atrophy (HP:0009130)1.64077052
170Proximal placement of thumb (HP:0009623)1.64052103
171Clubbing of toes (HP:0100760)1.64009615
172Cutaneous syndactyly (HP:0012725)1.63809966
173Aplasia/Hypoplasia of the patella (HP:0006498)1.63668256
174Aplasia/Hypoplasia of the earlobes (HP:0009906)1.63402573
175Postaxial foot polydactyly (HP:0001830)1.62775876
176Volvulus (HP:0002580)1.62482098
177Duodenal stenosis (HP:0100867)1.61610244
178Small intestinal stenosis (HP:0012848)1.61610244
179Impulsivity (HP:0100710)1.61256398
180Morphological abnormality of the inner ear (HP:0011390)1.60113475
181Oligodactyly (hands) (HP:0001180)1.59906013
182Abnormality of the fovea (HP:0000493)1.59804403
183Aplasia/Hypoplasia of the tibia (HP:0005772)1.59003968
184Oligohydramnios (HP:0001562)1.58624785
185Short middle phalanx of the 5th finger (HP:0004220)1.57907197

Predicted kinase interactions (KEA)

RankGene SetZ-score
1STK164.44405840
2TRIM283.81878110
3CASK3.00569112
4TNIK2.98508559
5ZAK2.88391068
6SRPK12.77546583
7EIF2AK32.72015228
8MAP4K22.69449060
9MKNK22.55762455
10SCYL22.51787201
11MAPK152.28009576
12PBK2.20659232
13NEK12.19879841
14CDK192.16465488
15TSSK62.08928560
16MAP2K72.04953376
17MAPK131.97292647
18AKT31.90510172
19BRD41.90156201
20NEK61.86568460
21VRK11.78712365
22MST41.77028754
23CSNK1G21.76576868
24KSR11.72787160
25BMPR1B1.66793999
26NTRK31.62993226
27CDC71.62841975
28PINK11.61472535
29PRPF4B1.60696481
30CSNK1G11.57635832
31MAP3K121.53385383
32CSNK1G31.53378863
33PLK41.51301830
34MAP3K131.43976687
35MUSK1.42940726
36MKNK11.42422987
37PNCK1.42386529
38BMPR21.41167106
39MAP2K41.37915667
40IRAK11.37051595
41IRAK31.36457311
42KSR21.35421571
43PASK1.34169752
44YES11.33797730
45EIF2AK21.28011420
46CHEK21.27216743
47MARK11.22871536
48MAP3K51.21433855
49CDK31.17653535
50SGK21.17606225
51TTK1.17266697
52GRK11.15965932
53RAF11.15173577
54STK241.13849399
55PLK31.13735764
56CDK61.12858211
57MAP3K41.09663947
58CDK81.09227520
59STK31.07633140
60EPHA41.07229672
61ARAF1.05200546
62NUAK11.05128206
63TLK11.04584492
64DYRK1A0.99715603
65ALK0.96799916
66WEE10.91123123
67IRAK40.88878791
68DYRK20.86649682
69PLK10.85905205
70ADRBK20.82539920
71ERBB30.81531774
72SGK2230.81274394
73SGK4940.81274394
74CDK140.81202438
75BRAF0.79675620
76ATR0.79270492
77ATM0.76601191
78CLK10.76371840
79NTRK20.75534718
80PIM20.74107208
81NME10.72966151
82ACVR1B0.71840545
83RPS6KA40.71300288
84CDK180.70969936
85TAF10.68874954
86CHEK10.68667333
87TXK0.68570423
88FER0.67859622
89GRK70.67420640
90PLK20.64117505
91MELK0.64114095
92RPS6KB20.63904631
93MATK0.63839145
94DYRK1B0.63753503
95CDK90.63531933
96INSRR0.61898566
97CDK70.59310338
98BCR0.59303561
99RPS6KB10.58577465
100NLK0.58119062
101PDK20.57998905
102TNK20.57800380
103STK380.56977263
104MAP3K90.56890763
105SGK10.56755823
106CDK150.56576404
107ERBB40.56464117
108PRKD30.56247861
109BUB10.55530234
110CCNB10.55493875
111EIF2AK10.54425066
112MINK10.54082580
113MAP3K60.53346783
114CDK11A0.53284498
115TESK20.52854162
116EPHA20.51775306
117SIK30.50989895
118DAPK10.49879056
119EPHA30.49692397
120AURKA0.48714272
121PRKCE0.48673923
122CDK20.47890570
123TAOK20.47281126
124CDK10.47231501
125DYRK30.46515880
126RPS6KA50.45793249
127NEK20.45696920
128PAK40.44528567
129PRKCI0.44039055
130GSK3B0.43885328
131IRAK20.43127326
132BRSK20.43110022
133PRKCG0.42738074
134MAPKAPK50.42438214
135NTRK10.42423587
136BRSK10.42336893
137SGK30.42289686
138STK38L0.42161537
139CSNK1E0.42007990
140MARK20.41652550
141CSNK1A1L0.41234389
142CAMK2A0.39811070
143CDK50.39658916
144FGR0.39375655
145AURKB0.38497595
146PKN10.37154097
147MAPK140.36987309
148LATS10.36740194
149STK40.36293388
150WNK30.35875620
151OXSR10.35241283
152CSNK2A20.35138937
153CSNK1A10.34920076
154PRKDC0.34836596

Predicted pathways (KEGG)

RankGene SetZ-score
1Fanconi anemia pathway_Homo sapiens_hsa034603.05185616
2Nicotine addiction_Homo sapiens_hsa050333.01405365
3Homologous recombination_Homo sapiens_hsa034402.75718958
4Basal transcription factors_Homo sapiens_hsa030222.66947186
5Synthesis and degradation of ketone bodies_Homo sapiens_hsa000722.47181389
6RNA polymerase_Homo sapiens_hsa030202.45887155
7Phototransduction_Homo sapiens_hsa047442.38396492
8Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030082.38299954
9Mismatch repair_Homo sapiens_hsa034302.31135274
10Butirosin and neomycin biosynthesis_Homo sapiens_hsa005242.20588834
11Nucleotide excision repair_Homo sapiens_hsa034202.12492228
12Citrate cycle (TCA cycle)_Homo sapiens_hsa000202.11103347
13Steroid biosynthesis_Homo sapiens_hsa001002.04202708
14DNA replication_Homo sapiens_hsa030302.00536063
15Taste transduction_Homo sapiens_hsa047421.97489905
16Cell cycle_Homo sapiens_hsa041101.97392576
17Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005631.90276499
18Propanoate metabolism_Homo sapiens_hsa006401.83682725
19Non-homologous end-joining_Homo sapiens_hsa034501.83377661
20RNA degradation_Homo sapiens_hsa030181.81453942
21Neuroactive ligand-receptor interaction_Homo sapiens_hsa040801.77498289
22Pyrimidine metabolism_Homo sapiens_hsa002401.63259795
23Retrograde endocannabinoid signaling_Homo sapiens_hsa047231.61183668
24Spliceosome_Homo sapiens_hsa030401.54444256
25mRNA surveillance pathway_Homo sapiens_hsa030151.53813170
26Fatty acid elongation_Homo sapiens_hsa000621.52132547
27Circadian rhythm_Homo sapiens_hsa047101.51311189
28Protein export_Homo sapiens_hsa030601.48064122
29Base excision repair_Homo sapiens_hsa034101.46984533
30Protein processing in endoplasmic reticulum_Homo sapiens_hsa041411.41260824
31Purine metabolism_Homo sapiens_hsa002301.40290259
32Glycolysis / Gluconeogenesis_Homo sapiens_hsa000101.37790626
33Pathogenic Escherichia coli infection_Homo sapiens_hsa051301.36385053
34Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002501.34942896
35Morphine addiction_Homo sapiens_hsa050321.34674619
36Sphingolipid metabolism_Homo sapiens_hsa006001.34185025
37Carbon metabolism_Homo sapiens_hsa012001.33460094
38Biosynthesis of amino acids_Homo sapiens_hsa012301.32674675
39Glutamatergic synapse_Homo sapiens_hsa047241.32614266
40Cysteine and methionine metabolism_Homo sapiens_hsa002701.30799797
41Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006011.30735069
42Serotonergic synapse_Homo sapiens_hsa047261.27579503
43RNA transport_Homo sapiens_hsa030131.26896741
44Valine, leucine and isoleucine degradation_Homo sapiens_hsa002801.23548479
45Vitamin B6 metabolism_Homo sapiens_hsa007501.23164680
46Ubiquitin mediated proteolysis_Homo sapiens_hsa041201.14505537
47Selenocompound metabolism_Homo sapiens_hsa004501.13461112
48GABAergic synapse_Homo sapiens_hsa047271.13046371
49Vibrio cholerae infection_Homo sapiens_hsa051101.12299643
50Butanoate metabolism_Homo sapiens_hsa006501.11927481
512-Oxocarboxylic acid metabolism_Homo sapiens_hsa012101.11086400
52Pyruvate metabolism_Homo sapiens_hsa006201.10710525
53Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006301.10580025
54Amphetamine addiction_Homo sapiens_hsa050311.05478340
55Ether lipid metabolism_Homo sapiens_hsa005651.05442928
56Shigellosis_Homo sapiens_hsa051311.00729227
57Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005200.97761680
58SNARE interactions in vesicular transport_Homo sapiens_hsa041300.97457102
59Oocyte meiosis_Homo sapiens_hsa041140.97172166
60Circadian entrainment_Homo sapiens_hsa047130.97005065
61Long-term potentiation_Homo sapiens_hsa047200.96813177
62Collecting duct acid secretion_Homo sapiens_hsa049660.94908554
63Alcoholism_Homo sapiens_hsa050340.92385203
64p53 signaling pathway_Homo sapiens_hsa041150.92301422
65Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.89105030
66Synaptic vesicle cycle_Homo sapiens_hsa047210.88938072
67Olfactory transduction_Homo sapiens_hsa047400.88891849
68Long-term depression_Homo sapiens_hsa047300.88467091
69Regulation of autophagy_Homo sapiens_hsa041400.87799256
70Insulin secretion_Homo sapiens_hsa049110.85647837
71Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa009700.85290229
72Wnt signaling pathway_Homo sapiens_hsa043100.84265756
73beta-Alanine metabolism_Homo sapiens_hsa004100.84100341
74Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010400.83715267
75Calcium signaling pathway_Homo sapiens_hsa040200.82207631
76Thyroid cancer_Homo sapiens_hsa052160.81512260
77Basal cell carcinoma_Homo sapiens_hsa052170.81007855
78Central carbon metabolism in cancer_Homo sapiens_hsa052300.80760632
79Systemic lupus erythematosus_Homo sapiens_hsa053220.76600998
80Hedgehog signaling pathway_Homo sapiens_hsa043400.75339579
81Pantothenate and CoA biosynthesis_Homo sapiens_hsa007700.74708997
82mTOR signaling pathway_Homo sapiens_hsa041500.74019765
83Dopaminergic synapse_Homo sapiens_hsa047280.73631083
84Cytosolic DNA-sensing pathway_Homo sapiens_hsa046230.73360573
85Linoleic acid metabolism_Homo sapiens_hsa005910.72921423
86Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001300.72081499
87Huntingtons disease_Homo sapiens_hsa050160.69258740
88Legionellosis_Homo sapiens_hsa051340.68486856
89Pentose phosphate pathway_Homo sapiens_hsa000300.67422567
90N-Glycan biosynthesis_Homo sapiens_hsa005100.63069187
91Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa005320.61637298
92Axon guidance_Homo sapiens_hsa043600.60923584
93Bacterial invasion of epithelial cells_Homo sapiens_hsa051000.60524853
94Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.60351043
95Arachidonic acid metabolism_Homo sapiens_hsa005900.60228011
96Fatty acid metabolism_Homo sapiens_hsa012120.59688043
97Taurine and hypotaurine metabolism_Homo sapiens_hsa004300.59587956
98One carbon pool by folate_Homo sapiens_hsa006700.58742196
99Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008600.58693298
100Phosphatidylinositol signaling system_Homo sapiens_hsa040700.57708661
101Maturity onset diabetes of the young_Homo sapiens_hsa049500.57643286
102Fructose and mannose metabolism_Homo sapiens_hsa000510.57245653
103Ovarian steroidogenesis_Homo sapiens_hsa049130.57054677
104Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051200.56951179
105Epstein-Barr virus infection_Homo sapiens_hsa051690.56203063
106Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.56019834
107Progesterone-mediated oocyte maturation_Homo sapiens_hsa049140.55754671
108Folate biosynthesis_Homo sapiens_hsa007900.55435526
109Oxidative phosphorylation_Homo sapiens_hsa001900.52476350
110Inositol phosphate metabolism_Homo sapiens_hsa005620.51842816
111Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.51834045
112Endometrial cancer_Homo sapiens_hsa052130.51702149
113HIF-1 signaling pathway_Homo sapiens_hsa040660.50272045
114Glycerophospholipid metabolism_Homo sapiens_hsa005640.50116385
115Terpenoid backbone biosynthesis_Homo sapiens_hsa009000.49449384
116Cholinergic synapse_Homo sapiens_hsa047250.49335729
117Cocaine addiction_Homo sapiens_hsa050300.48542226
118Transcriptional misregulation in cancer_Homo sapiens_hsa052020.48218542
119Autoimmune thyroid disease_Homo sapiens_hsa053200.48082229
120ErbB signaling pathway_Homo sapiens_hsa040120.47882359
121cAMP signaling pathway_Homo sapiens_hsa040240.46975153
122Salivary secretion_Homo sapiens_hsa049700.46187313
123Lysine degradation_Homo sapiens_hsa003100.45898139
124alpha-Linolenic acid metabolism_Homo sapiens_hsa005920.45466425
125Melanoma_Homo sapiens_hsa052180.45076613
126Herpes simplex infection_Homo sapiens_hsa051680.44308549
127Colorectal cancer_Homo sapiens_hsa052100.44274753
128Hematopoietic cell lineage_Homo sapiens_hsa046400.44242858
129Vitamin digestion and absorption_Homo sapiens_hsa049770.44007063
130Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.43516464
131Proteasome_Homo sapiens_hsa030500.42184693
132Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa045500.40724209
133MAPK signaling pathway_Homo sapiens_hsa040100.39995680
134Pancreatic cancer_Homo sapiens_hsa052120.39157102
135Melanogenesis_Homo sapiens_hsa049160.38492203
136Renin secretion_Homo sapiens_hsa049240.38188213
137Sphingolipid signaling pathway_Homo sapiens_hsa040710.38162281
138Glycine, serine and threonine metabolism_Homo sapiens_hsa002600.37126975
139Insulin signaling pathway_Homo sapiens_hsa049100.36675930
140Glioma_Homo sapiens_hsa052140.36112868
141NF-kappa B signaling pathway_Homo sapiens_hsa040640.35816870
142Adherens junction_Homo sapiens_hsa045200.35048484
143Oxytocin signaling pathway_Homo sapiens_hsa049210.34901948
144AMPK signaling pathway_Homo sapiens_hsa041520.33101233
145Galactose metabolism_Homo sapiens_hsa000520.33007992
146Choline metabolism in cancer_Homo sapiens_hsa052310.32839398
147Aldosterone synthesis and secretion_Homo sapiens_hsa049250.32039489
148GnRH signaling pathway_Homo sapiens_hsa049120.31829069
149Inflammatory bowel disease (IBD)_Homo sapiens_hsa053210.31047547
150Chronic myeloid leukemia_Homo sapiens_hsa052200.29677536
151Viral carcinogenesis_Homo sapiens_hsa052030.29325883
152Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.29001957
153Rheumatoid arthritis_Homo sapiens_hsa053230.28936861
154Type II diabetes mellitus_Homo sapiens_hsa049300.25391868
155Gap junction_Homo sapiens_hsa045400.25363662
156Vasopressin-regulated water reabsorption_Homo sapiens_hsa049620.23349124
157Metabolic pathways_Homo sapiens_hsa011000.23120155
158Salmonella infection_Homo sapiens_hsa051320.20831285
159Hepatitis B_Homo sapiens_hsa051610.19944821
160Prostate cancer_Homo sapiens_hsa052150.18306964

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