SMUG1

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





Description: This gene encodes a protein that participates in base excision repair by removing uracil from single- and double-stranded DNA. Many alternatively spliced transcript variants exist for this gene; the full-length nature is known for some but not all of the variants. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1transcription from mitochondrial promoter (GO:0006390)7.72578157
2proline metabolic process (GO:0006560)7.55067342
3replication fork processing (GO:0031297)7.37387817
4embryonic process involved in female pregnancy (GO:0060136)7.08348904
5establishment of apical/basal cell polarity (GO:0035089)6.36844920
6positive regulation of protein homooligomerization (GO:0032464)5.92861751
7maintenance of fidelity involved in DNA-dependent DNA replication (GO:0045005)5.84460941
8oxidative demethylation (GO:0070989)5.81356347
9retinal cone cell development (GO:0046549)5.80386181
10regulation of integrin activation (GO:0033623)5.74512724
11establishment or maintenance of monopolar cell polarity (GO:0061339)5.72404245
12establishment of monopolar cell polarity (GO:0061162)5.72404245
13negative regulation of JAK-STAT cascade (GO:0046426)5.58711314
14regulation of protein homooligomerization (GO:0032462)5.46938150
15mitochondrial ATP synthesis coupled proton transport (GO:0042776)5.38256020
16DNA deamination (GO:0045006)5.15094448
17ATP synthesis coupled proton transport (GO:0015986)5.05093626
18energy coupled proton transport, down electrochemical gradient (GO:0015985)5.05093626
19poly(A)+ mRNA export from nucleus (GO:0016973)5.02984052
20somatic diversification of immune receptors via somatic mutation (GO:0002566)4.90754993
21somatic hypermutation of immunoglobulin genes (GO:0016446)4.90754993
22regulation of rhodopsin mediated signaling pathway (GO:0022400)4.89491899
23mitochondrial DNA metabolic process (GO:0032042)4.87829745
24mitochondrial electron transport, NADH to ubiquinone (GO:0006120)4.86432829
25DNA strand renaturation (GO:0000733)4.85244537
26cellular response to ATP (GO:0071318)4.75483978
27rhodopsin mediated signaling pathway (GO:0016056)4.73338972
28protein complex biogenesis (GO:0070271)4.60104483
29negative regulation of cell cycle arrest (GO:0071157)4.58232954
30respiratory chain complex IV assembly (GO:0008535)4.58232071
31embryonic placenta development (GO:0001892)4.57687211
32viral mRNA export from host cell nucleus (GO:0046784)4.49697156
33cytochrome complex assembly (GO:0017004)4.48962221
34mitochondrial respiratory chain complex assembly (GO:0033108)4.36947947
35proteasome assembly (GO:0043248)4.33115984
36respiratory electron transport chain (GO:0022904)4.31537897
37electron transport chain (GO:0022900)4.30814799
38mRNA cleavage (GO:0006379)4.28593068
39regulation of mitochondrial translation (GO:0070129)4.27405286
40mitotic G1 DNA damage checkpoint (GO:0031571)4.26944134
41negative regulation of Ras GTPase activity (GO:0034261)4.24062160
42DNA integration (GO:0015074)4.24009502
43peptidyl-histidine modification (GO:0018202)4.20330677
44glutamine family amino acid biosynthetic process (GO:0009084)4.14608036
45termination of RNA polymerase III transcription (GO:0006386)4.12765142
46transcription elongation from RNA polymerase III promoter (GO:0006385)4.12765142
47chaperone-mediated protein transport (GO:0072321)4.08275956
48mitochondrial respiratory chain complex I assembly (GO:0032981)4.07197727
49NADH dehydrogenase complex assembly (GO:0010257)4.07197727
50mitochondrial respiratory chain complex I biogenesis (GO:0097031)4.07197727
51mannosylation (GO:0097502)4.04876091
52rRNA modification (GO:0000154)4.03175002
53regulation of translational fidelity (GO:0006450)3.98737940
54positive regulation of mitotic metaphase/anaphase transition (GO:0045842)3.92312739
55positive regulation of metaphase/anaphase transition of cell cycle (GO:1902101)3.92312739
56positive regulation of mitotic sister chromatid separation (GO:1901970)3.92312739
57negative regulation of fatty acid biosynthetic process (GO:0045717)3.91185221
58negative regulation of protein oligomerization (GO:0032460)3.89049751
59convergent extension (GO:0060026)3.88970195
60water-soluble vitamin biosynthetic process (GO:0042364)3.86451944
61G1 DNA damage checkpoint (GO:0044783)3.85716363
62regulation of sister chromatid cohesion (GO:0007063)3.82605006
63mitotic G1/S transition checkpoint (GO:0044819)3.81620124
64spliceosomal tri-snRNP complex assembly (GO:0000244)3.76572053
65embryonic camera-type eye development (GO:0031076)3.74722402
66photoreceptor cell development (GO:0042461)3.74114153
67eye photoreceptor cell development (GO:0042462)3.66278510
68face development (GO:0060324)3.63687693
69labyrinthine layer development (GO:0060711)3.63571152
70pseudouridine synthesis (GO:0001522)3.61953387
71non-recombinational repair (GO:0000726)3.60171420
72double-strand break repair via nonhomologous end joining (GO:0006303)3.60171420
73cellular response to zinc ion (GO:0071294)3.57423284
74ubiquinone biosynthetic process (GO:0006744)3.55794896
75histone H4-K12 acetylation (GO:0043983)3.55658120
76RNA splicing, via endonucleolytic cleavage and ligation (GO:0000394)3.55644738
77tRNA splicing, via endonucleolytic cleavage and ligation (GO:0006388)3.55644738
78synaptic vesicle endocytosis (GO:0048488)3.55504404
79DNA double-strand break processing (GO:0000729)3.53729781
80establishment of mitochondrion localization, microtubule-mediated (GO:0034643)3.53716045
81mitochondrion transport along microtubule (GO:0047497)3.53716045
82establishment of protein localization to mitochondrial membrane (GO:0090151)3.50538933
83oxidative phosphorylation (GO:0006119)3.46563438
84protein-cofactor linkage (GO:0018065)3.46179398
85ubiquinone metabolic process (GO:0006743)3.45940358
86positive regulation of developmental pigmentation (GO:0048087)3.43739094
87* base-excision repair, AP site formation (GO:0006285)3.43576264
88detection of light stimulus involved in sensory perception (GO:0050962)3.42902553
89detection of light stimulus involved in visual perception (GO:0050908)3.42902553
90iron-sulfur cluster assembly (GO:0016226)3.42401065
91metallo-sulfur cluster assembly (GO:0031163)3.42401065
92trophectodermal cell differentiation (GO:0001829)3.38560297
93rRNA methylation (GO:0031167)3.36883308
94negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)3.33128020
95protein-chromophore linkage (GO:0018298)3.31356073
96DNA topological change (GO:0006265)3.31236384
97regulation of cAMP-dependent protein kinase activity (GO:2000479)3.30999579
98mitochondrial RNA metabolic process (GO:0000959)3.29903811
99regulation of protein oligomerization (GO:0032459)3.28747219
100* pyrimidine deoxyribonucleotide catabolic process (GO:0009223)3.28558793
101regulation of cellular amino acid metabolic process (GO:0006521)3.28460844
102glial cell migration (GO:0008347)3.27250234
103activation of Rac GTPase activity (GO:0032863)3.26997705
104auditory receptor cell stereocilium organization (GO:0060088)3.26385801
105negative regulation of mRNA splicing, via spliceosome (GO:0048025)3.23030939
106protein targeting to mitochondrion (GO:0006626)3.22720937
107hydrogen ion transmembrane transport (GO:1902600)3.18785868
108GDP-mannose metabolic process (GO:0019673)3.18265758
109* base-excision repair (GO:0006284)3.17565947
110cullin deneddylation (GO:0010388)3.17357306
111GTP biosynthetic process (GO:0006183)3.15824644
112dosage compensation (GO:0007549)3.15675552
113meiotic chromosome segregation (GO:0045132)3.15654489
114positive regulation by host of viral transcription (GO:0043923)3.15101674
115nodal signaling pathway (GO:0038092)3.14194688
116protein targeting to lysosome (GO:0006622)3.14065577
117establishment of protein localization to vacuole (GO:0072666)3.14065577
118protein targeting to vacuole (GO:0006623)3.14065577
119positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)3.13666975
120regulation of DNA damage checkpoint (GO:2000001)3.11872752
121positive regulation of protein oligomerization (GO:0032461)3.11699822
122regulation of RNA export from nucleus (GO:0046831)3.11659938
123tRNA processing (GO:0008033)3.11358955
124establishment of protein localization to mitochondrion (GO:0072655)3.09686388
125negative regulation of appetite (GO:0032099)3.09454638
126negative regulation of response to food (GO:0032096)3.09454638
127resolution of meiotic recombination intermediates (GO:0000712)3.08722722
128nuclear-transcribed mRNA catabolic process, exonucleolytic (GO:0000291)3.07139633
129regulation of epithelial cell proliferation involved in prostate gland development (GO:0060768)3.06283623
130regulation of double-strand break repair via homologous recombination (GO:0010569)3.06148543
131DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:003.05330435
132positive regulation of circadian rhythm (GO:0042753)3.05159556
133nucleotide-excision repair, DNA gap filling (GO:0006297)3.03872598
134intracellular protein transmembrane import (GO:0044743)3.02944855
135regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)3.02188092
136purine nucleoside triphosphate biosynthetic process (GO:0009145)3.01912606
137protein localization to mitochondrion (GO:0070585)3.00777326
138GPI anchor biosynthetic process (GO:0006506)3.00749107
139regulation of intracellular estrogen receptor signaling pathway (GO:0033146)3.00171713
140protein localization to endosome (GO:0036010)3.00076596
141signal transduction involved in mitotic cell cycle checkpoint (GO:0072413)2.99849024
142signal transduction involved in mitotic DNA integrity checkpoint (GO:1902403)2.99849024
143signal transduction involved in mitotic DNA damage checkpoint (GO:1902402)2.99849024
144protein neddylation (GO:0045116)2.99598804
145negative regulation of ligase activity (GO:0051352)2.98882406
146negative regulation of ubiquitin-protein transferase activity (GO:0051444)2.98882406
147positive regulation of DNA repair (GO:0045739)2.98825850
148purine ribonucleoside triphosphate biosynthetic process (GO:0009206)2.98462264
149exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay 2.97883534
150regulation of double-strand break repair (GO:2000779)2.97480849
151preassembly of GPI anchor in ER membrane (GO:0016254)2.96561698
152negative regulation of heart rate (GO:0010459)2.96314372
153intracellular signal transduction involved in G1 DNA damage checkpoint (GO:1902400)2.95715272
154signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431)2.95715272
155glandular epithelial cell development (GO:0002068)2.94907465
156dolichol-linked oligosaccharide biosynthetic process (GO:0006488)2.94649498
157guanosine-containing compound biosynthetic process (GO:1901070)2.94644106
158formation of translation preinitiation complex (GO:0001731)2.94248034
159establishment of mitochondrion localization (GO:0051654)2.93954622
160ATP biosynthetic process (GO:0006754)2.92979407
161proton transport (GO:0015992)2.91768454
162ribosomal small subunit assembly (GO:0000028)2.91039124
163GPI anchor metabolic process (GO:0006505)2.90525717
164hypotonic response (GO:0006971)2.89789931
165deoxyribonucleoside monophosphate metabolic process (GO:0009162)2.89721966
166protein deneddylation (GO:0000338)2.88543933
167signal transduction involved in DNA integrity checkpoint (GO:0072401)2.87743674
168signal transduction involved in DNA damage checkpoint (GO:0072422)2.87743674
169DNA demethylation (GO:0080111)2.87330403
170maturation of 5.8S rRNA (GO:0000460)2.87316003
171signal transduction involved in cell cycle checkpoint (GO:0072395)2.86743855
172quinone biosynthetic process (GO:1901663)2.86531055
173negative regulation of mRNA processing (GO:0050686)2.86389800
174hydrogen transport (GO:0006818)2.84279854
175anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:02.83207582
176L-methionine biosynthetic process from methylthioadenosine (GO:0019509)2.79855757
177positive regulation of ubiquitin-protein transferase activity (GO:0051443)2.74723175
178ATP hydrolysis coupled proton transport (GO:0015991)2.73660358
179energy coupled proton transmembrane transport, against electrochemical gradient (GO:0015988)2.73660358
180tRNA metabolic process (GO:0006399)2.72913699
181cellular component biogenesis (GO:0044085)2.72666683
182ribonucleoside triphosphate biosynthetic process (GO:0009201)2.71285347
183GMP metabolic process (GO:0046037)2.71092022
1847-methylguanosine mRNA capping (GO:0006370)2.68475433
185translation (GO:0006412)2.67172159
186transcription from RNA polymerase III promoter (GO:0006383)2.66403704
187UTP biosynthetic process (GO:0006228)2.66091754
188C-terminal protein lipidation (GO:0006501)2.65814326
189cellular ketone body metabolic process (GO:0046950)2.65521315
190regulation of cilium movement (GO:0003352)2.65350767
191platelet dense granule organization (GO:0060155)2.63697741
192mitochondrial transport (GO:0006839)2.62274020
193positive regulation of ligase activity (GO:0051351)2.62096814
194inner mitochondrial membrane organization (GO:0007007)2.60399374
195proline biosynthetic process (GO:0006561)10.2586557

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human5.26417692
2* GABP_17652178_ChIP-ChIP_JURKAT_Human4.73090389
3E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse4.18359916
4* EST1_17652178_ChIP-ChIP_JURKAT_Human3.94837206
5NOTCH1_17114293_ChIP-ChIP_T-ALL_Human3.82532768
6HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human3.64762796
7ZFP281_18358816_ChIP-ChIP_MESCs_Mouse3.55152454
8* ETS1_20019798_ChIP-Seq_JURKAT_Human3.51010827
9SMAD1_18555785_ChIP-Seq_MESCs_Mouse3.31007506
10KLF4_18264089_ChIP-ChIP_MESCs_Mouse3.28746029
11KLF2_18264089_ChIP-ChIP_MESCs_Mouse3.28746029
12KLF5_18264089_ChIP-ChIP_MESCs_Mouse3.28746029
13SMAD3_22036565_ChIP-Seq_ESCs_Mouse3.18641541
14CREB1_15753290_ChIP-ChIP_HEK293T_Human2.91670746
15NANOG_18700969_ChIP-ChIP_MESCs_Mouse2.89086738
16SOX2_18358816_ChIP-ChIP_MESCs_Mouse2.82738404
17TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat2.78470265
18* HCFC1_20581084_ChIP-Seq_MESCs_Mouse2.67696644
19SRF_21415370_ChIP-Seq_HL-1_Mouse2.67028882
20* CHD1_19587682_ChIP-ChIP_MESCs_Mouse2.65690588
21RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse2.51961418
22VDR_23849224_ChIP-Seq_CD4+_Human2.50313700
23* ELK1_19687146_ChIP-ChIP_HELA_Human2.47094961
24DACH1_20351289_ChIP-Seq_MDA-MB-231_Human2.45519452
25PDX1_19855005_ChIP-ChIP_MIN6_Mouse2.45467546
26POU5F1_16518401_ChIP-PET_MESCs_Mouse2.41699478
27* GABP_19822575_ChIP-Seq_HepG2_Human2.34016918
28NACC1_18358816_ChIP-ChIP_MESCs_Mouse2.32933624
29ZNF274_21170338_ChIP-Seq_K562_Hela2.32919703
30ERG_21242973_ChIP-ChIP_JURKAT_Human2.31610967
31TCF3_18692474_ChIP-Seq_MESCs_Mouse2.29086328
32CTNNB1_24651522_ChIP-Seq_LGR5+_INTESTINAL_STEM_Human2.28831705
33NANOG_21062744_ChIP-ChIP_HESCs_Human2.27881577
34SALL4_18804426_ChIP-ChIP_MESCs_Mouse2.27060069
35MYCN_21190229_ChIP-Seq_SHEP-21N_Human2.22997662
36EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse2.22886229
37FOXP3_21729870_ChIP-Seq_TREG_Human2.20827912
38DCP1A_22483619_ChIP-Seq_HELA_Human2.19765611
39CEBPB_23403033_ChIP-Seq_LIVER_Mouse2.12404195
40YY1_21170310_ChIP-Seq_MESCs_Mouse2.11095666
41KLF4_18358816_ChIP-ChIP_MESCs_Mouse2.09872519
42DMRT1_21621532_ChIP-ChIP_FETAL_Ovary2.07076249
43SOX9_22984422_ChIP-ChIP_TESTIS_Rat2.06938516
44* ELF1_17652178_ChIP-ChIP_JURKAT_Human2.06575914
45XRN2_22483619_ChIP-Seq_HELA_Human2.00693985
46ZIC3_20872845_ChIP-ChIP_MESCs_Mouse1.97805320
47MYC_18555785_ChIP-Seq_MESCs_Mouse1.91910206
48NR0B1_18358816_ChIP-ChIP_MESCs_Mouse1.90804205
49NANOG_18347094_ChIP-ChIP_MESCs_Mouse1.89024477
50VDR_21846776_ChIP-Seq_THP-1_Human1.86274866
51* LXR_22292898_ChIP-Seq_THP-1_Human1.85191213
52RCOR2_21632747_ChIP-Seq_MESCs_Mouse1.82406514
53TTF2_22483619_ChIP-Seq_HELA_Human1.82118121
54CREB1_26743006_Chip-Seq_LNCaP-abl_Human1.80152945
55POU5F1_18700969_ChIP-ChIP_MESCs_Mouse1.79086453
56TCF3_18692474_ChIP-Seq_MEFs_Mouse1.78462465
57MYC_18940864_ChIP-ChIP_HL60_Human1.76674831
58ZFP42_18358816_ChIP-ChIP_MESCs_Mouse1.75989169
59FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse1.67643096
60IGF1R_20145208_ChIP-Seq_DFB_Human1.64340773
61FOXO3_22982991_ChIP-Seq_MACROPHAGES_Mouse1.63827801
62MYC_19079543_ChIP-ChIP_MESCs_Mouse1.60943985
63* PU.1_20513432_ChIP-Seq_Bcells_Mouse1.60522594
64ZFP281_27345836_Chip-Seq_ESCs_Mouse1.57333061
65MYC_18358816_ChIP-ChIP_MESCs_Mouse1.56789283
66PADI4_21655091_ChIP-ChIP_MCF-7_Human1.55979983
67FOXM1_23109430_ChIP-Seq_U2OS_Human1.53584626
68NANOG_18358816_ChIP-ChIP_MESCs_Mouse1.53118207
69ZFP281_18757296_ChIP-ChIP_E14_Mouse1.51506279
70ZNF263_19887448_ChIP-Seq_K562_Human1.49505511
71HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse1.49456630
72PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse1.49392825
73VDR_22108803_ChIP-Seq_LS180_Human1.46783381
74CEBPB_24764292_ChIP-Seq_MC3T3_Mouse1.45933687
75POU5F1_18692474_ChIP-Seq_MESCs_Mouse1.44710394
76RXRA_24833708_ChIP-Seq_LIVER_Mouse1.43040897
77STAT3_1855785_ChIP-Seq_MESCs_Mouse1.42951782
78NANOG_18692474_ChIP-Seq_MESCs_Mouse1.42825853
79* TET1_21451524_ChIP-Seq_MESCs_Mouse1.41783221
80KLF4_18555785_ChIP-Seq_MESCs_Mouse1.41693335
81NANOG_18555785_ChIP-Seq_MESCs_Mouse1.41553717
82CEBPA_23403033_ChIP-Seq_LIVER_Mouse1.41233336
83RCOR3_21632747_ChIP-Seq_MESCs_Mouse1.40470361
84* HOXB4_20404135_ChIP-ChIP_EML_Mouse1.38603687
85* CREB1_20920259_ChIP-Seq_GC1-SPG_Mouse1.38308071
86NELFA_20434984_ChIP-Seq_ESCs_Mouse1.37786119
87SPI1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.37532890
88E2F4_17652178_ChIP-ChIP_JURKAT_Human1.34036649
89YY1_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.33612008
90PRDM14_21183938_ChIP-Seq_MESCs_Mouse1.33564738
91BCL3_23251550_ChIP-Seq_MUSCLE_Mouse1.33225274
92RACK7_27058665_Chip-Seq_MCF-7_Human1.32579669
93SALL1_21062744_ChIP-ChIP_HESCs_Human1.31209343
94* CCND1_20090754_ChIP-ChIP_RETINA_Mouse1.30063161
95CTNNB1_20615089_ChIP-ChIP_FETAL_BRAIN_Human1.29601819
96POU5F1_18358816_ChIP-ChIP_MESCs_Mouse1.29106331
97* ETS1_21867929_ChIP-Seq_TH2_Mouse1.28677160
98TCF3_18347094_ChIP-ChIP_MESCs_Mouse1.27986371
99RARB_24833708_ChIP-Seq_LIVER_Mouse1.27764827
100MYCN_18555785_ChIP-Seq_MESCs_Mouse1.27008452
101ELK1_22589737_ChIP-Seq_MCF10A_Human1.26870753
102* SOX2_18692474_ChIP-Seq_MESCs_Mouse1.26258582
103TP53_22573176_ChIP-Seq_HFKS_Human1.24985902
104PAX6_23342162_ChIP-ChIP_BETA-FORBRAIN-LENS_Mouse1.22968839
105NANOG_16518401_ChIP-PET_MESCs_Mouse1.22044541
106MYC_19030024_ChIP-ChIP_MESCs_Mouse1.20092293
107KDM2B_26808549_Chip-Seq_DND41_Human1.18106976
108MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse1.17957641
109* KDM2B_26808549_Chip-Seq_K562_Human1.17774204
110HOXD13_18407260_ChIP-ChIP_DEVELOPING-LIMBS_Mouse1.17336379
111E2F4_21247883_ChIP-Seq_LYMPHOBLASTOID_Human1.16830094
112KAP1_27257070_Chip-Seq_ESCs_Mouse1.16136217
113NOTCH1_21737748_ChIP-Seq_TLL_Human1.16099278
114* FLI1_20887958_ChIP-Seq_HPC-7_Mouse1.14762596
115PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse1.13100763
116* PU.1_20513432_ChIP-Seq_MACROPHAGES_Mouse1.13080044
117* THAP11_20581084_ChIP-Seq_MESCs_Mouse1.12977482
118P300_27058665_Chip-Seq_ZR-75-30cells_Human1.12830029
119* SPI1_26923725_Chip-Seq_HPCs_Mouse1.12764510
120TBP_23326641_ChIP-Seq_C3H10T1-2_Mouse1.12029526
121MYBL2_22936984_ChIP-ChIP_MESCs_Mouse1.11671004
122MYC_22102868_ChIP-Seq_BL_Human1.10317731
123SETDB1_19884255_ChIP-Seq_MESCs_Mouse1.10145341
124* RING1B_27294783_Chip-Seq_NPCs_Mouse1.09989655
125EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human1.09536212
126KDM2B_26808549_Chip-Seq_HPB-ALL_Human1.09443710
127* SOX2_18692474_ChIP-Seq_MEFs_Mouse1.08366551
128CRX_20693478_ChIP-Seq_ADULT_RETINA_Mouse1.08173236
129EBNA2_21746931_ChIP-Seq_IB4-LCL_Human1.08061689
130* FOXP1_21924763_ChIP-Seq_HESCs_Human1.06927690
131CREB1_26743006_Chip-Seq_LNCaP_Human1.05895527
132* CTCF_21964334_ChIP-Seq_BJAB-B_Human1.05755425
133RARA_24833708_ChIP-Seq_LIVER_Mouse1.05732111
134* KDM2B_26808549_Chip-Seq_SUP-B15_Human1.05300936
135* E2F1_18555785_ChIP-Seq_MESCs_Mouse1.05295114
136FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human1.05173905
137CTCF_18555785_ChIP-Seq_MESCs_Mouse1.04867909
138ERA_21632823_ChIP-Seq_H3396_Human1.04310811
139CNOT3_19339689_ChIP-ChIP_MESCs_Mouse1.04101673
140YY1_22570637_ChIP-Seq_MALME-3M_Human1.03031766
141TP53_20018659_ChIP-ChIP_R1E_Mouse1.02582849
142TET1_21490601_ChIP-Seq_MESCs_Mouse1.02275969
143EKLF_21900194_ChIP-Seq_ERYTHROCYTE_Mouse1.02202249
144KDM5A_27292631_Chip-Seq_BREAST_Human1.02008781
145NR4A2_19515692_ChIP-ChIP_MN9D_Mouse1.01827946
146RBPJ_21746931_ChIP-Seq_IB4-LCL_Human1.01627659
147FLI1_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse1.01281850
148PHF8_20622854_ChIP-Seq_HELA_Human1.00159056
149POU5F1_18347094_ChIP-ChIP_MESCs_Mouse0.99338365
150KDM2B_26808549_Chip-Seq_SIL-ALL_Human0.99038638
151TP53_23651856_ChIP-Seq_MEFs_Mouse0.98943796
152HNF4A_19761587_ChIP-ChIP_CACO-2_Human0.97890694
153SIN3A_21632747_ChIP-Seq_MESCs_Mouse0.97697873
154CHD1_26751641_Chip-Seq_LNCaP_Human0.97593570
155ESRRB_18555785_ChIP-Seq_MESCs_Mouse0.97569919
156* EOMES_20176728_ChIP-ChIP_TSCs_Mouse0.97529784
157SIN3B_21632747_ChIP-Seq_MESCs_Mouse0.97067863
158JARID1A_20064375_ChIP-Seq_MESCs_Mouse0.96784271
159OCT4_18692474_ChIP-Seq_MEFs_Mouse0.95991542
160ASH2L_23239880_ChIP-Seq_MESCs_Mouse0.95922733
161POU5F1_18555785_ChIP-Seq_MESCs_Mouse0.95539750
162P68_20966046_ChIP-Seq_HELA_Human0.95249083
163EWS_26573619_Chip-Seq_HEK293_Human0.94812854
164AR_20517297_ChIP-Seq_VCAP_Human0.94149867
165HOXB7_26014856_ChIP-Seq_BT474_Human0.91262962
166NCOR_22424771_ChIP-Seq_293T_Human0.87805911
167GATA3_21878914_ChIP-Seq_MCF-7_Human0.87412992
168* E2F1_20622854_ChIP-Seq_HELA_Human0.87306795
169* FLI1_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.86999703
170ERG_20887958_ChIP-Seq_HPC-7_Mouse0.86865032
171* SPI1_22790984_ChIP-Seq_ERYTHROLEUKEMIA_Mouse0.86444690
172MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human0.84260922
173NANOG_20526341_ChIP-Seq_ESCs_Human0.84015726
174ELF5_23300383_ChIP-Seq_T47D_Human0.83379929
175FOXA1_25329375_ChIP-Seq_VCAP_Human0.83218091
176FOXA1_27270436_Chip-Seq_PROSTATE_Human0.83218091
177EGR1_23403033_ChIP-Seq_LIVER_Mouse0.82025495
178CHD7_19251738_ChIP-ChIP_MESCs_Mouse0.80682197
179ER_23166858_ChIP-Seq_MCF-7_Human0.80191886
180CIITA_25753668_ChIP-Seq_RAJI_Human0.79810953
181P53_21459846_ChIP-Seq_SAOS-2_Human0.76890573
182CTBP1_25329375_ChIP-Seq_LNCAP_Human0.76166360
183MYC_19829295_ChIP-Seq_ESCs_Human0.76149383

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0008057_abnormal_DNA_replication5.25186151
2MP0006072_abnormal_retinal_apoptosis5.09610206
3MP0005551_abnormal_eye_electrophysiolog3.94232625
4MP0004233_abnormal_muscle_weight3.87992972
5MP0010030_abnormal_orbit_morphology3.84678173
6MP0005253_abnormal_eye_physiology3.37998624
7MP0005171_absent_coat_pigmentation3.34419800
8MP0009278_abnormal_bone_marrow3.26417075
9MP0003011_delayed_dark_adaptation3.07364323
10MP0002653_abnormal_ependyma_morphology2.83835356
11MP0003890_abnormal_embryonic-extraembry2.71921547
12MP0008875_abnormal_xenobiotic_pharmacok2.54915289
13MP0000372_irregular_coat_pigmentation2.43738337
14MP0002009_preneoplasia2.41081210
15MP0005646_abnormal_pituitary_gland2.39336972
16MP0002736_abnormal_nociception_after2.39291799
17MP0003806_abnormal_nucleotide_metabolis2.33148494
18MP0001324_abnormal_eye_pigmentation2.30940560
19MP0002102_abnormal_ear_morphology2.25298043
20MP0003136_yellow_coat_color2.19529884
21MP0003186_abnormal_redox_activity2.16023781
22MP0003283_abnormal_digestive_organ2.11117068
23MP0002837_dystrophic_cardiac_calcinosis2.04695330
24MP0008995_early_reproductive_senescence2.02978206
25MP0005195_abnormal_posterior_eye2.02561102
26MP0006036_abnormal_mitochondrial_physio2.01020895
27MP0003119_abnormal_digestive_system2.00594488
28MP0001968_abnormal_touch/_nociception1.98830543
29MP0001529_abnormal_vocalization1.98217781
30MP0001905_abnormal_dopamine_level1.96250550
31MP0002160_abnormal_reproductive_system1.94013241
32MP0004133_heterotaxia1.90002609
33MP0005391_vision/eye_phenotype1.88539841
34MP0002938_white_spotting1.79507504
35MP0010094_abnormal_chromosome_stability1.77256561
36MP0000579_abnormal_nail_morphology1.76457939
37MP0002249_abnormal_larynx_morphology1.71149250
38MP0002282_abnormal_trachea_morphology1.63408393
39MP0001764_abnormal_homeostasis1.62939248
40MP0006035_abnormal_mitochondrial_morpho1.61376501
41MP0008872_abnormal_physiological_respon1.61070976
42MP0005076_abnormal_cell_differentiation1.55821159
43MP0005389_reproductive_system_phenotype1.55384984
44MP0003786_premature_aging1.53035656
45MP0003646_muscle_fatigue1.47681174
46MP0002084_abnormal_developmental_patter1.46618414
47MP0008058_abnormal_DNA_repair1.45592712
48MP0010352_gastrointestinal_tract_polyps1.44622952
49MP0003453_abnormal_keratinocyte_physiol1.41379126
50MP0002234_abnormal_pharynx_morphology1.40390152
51MP0005408_hypopigmentation1.39057799
52MP0009697_abnormal_copulation1.39043785
53MP0001984_abnormal_olfaction1.38533766
54MP0005084_abnormal_gallbladder_morpholo1.38230389
55MP0004142_abnormal_muscle_tone1.38205555
56MP0008789_abnormal_olfactory_epithelium1.35014607
57MP0002085_abnormal_embryonic_tissue1.34191780
58MP0002269_muscular_atrophy1.33859363
59MP0005083_abnormal_biliary_tract1.33556849
60MP0005397_hematopoietic_system_phenotyp1.32105515
61MP0001545_abnormal_hematopoietic_system1.32105515
62MP0001697_abnormal_embryo_size1.32061113
63MP0004957_abnormal_blastocyst_morpholog1.30945452
64MP0000049_abnormal_middle_ear1.30414874
65MP0001293_anophthalmia1.29805114
66MP0003111_abnormal_nucleus_morphology1.29463076
67MP0000631_abnormal_neuroendocrine_gland1.28325871
68MP0002086_abnormal_extraembryonic_tissu1.28092675
69MP0003718_maternal_effect1.26031709
70MP0000371_diluted_coat_color1.24475422
71MP0004147_increased_porphyrin_level1.23897449
72MP0005332_abnormal_amino_acid1.23812337
73MP0000538_abnormal_urinary_bladder1.20645298
74MP0008877_abnormal_DNA_methylation1.19851924
75MP0004019_abnormal_vitamin_homeostasis1.19336366
76MP0004197_abnormal_fetal_growth/weight/1.19246256
77MP0001661_extended_life_span1.19245316
78MP0003567_abnormal_fetal_cardiomyocyte1.18208240
79MP0005410_abnormal_fertilization1.17365677
80MP0000462_abnormal_digestive_system1.17107537
81MP0000427_abnormal_hair_cycle1.16969106
82MP0001919_abnormal_reproductive_system1.16876589
83MP0002822_catalepsy1.16240261
84MP0009046_muscle_twitch1.15643765
85MP0005248_abnormal_Harderian_gland1.15364073
86MP0002638_abnormal_pupillary_reflex1.15347250
87MP0000358_abnormal_cell_content/1.14752896
88MP0003698_abnormal_male_reproductive1.13650510
89MP0006276_abnormal_autonomic_nervous1.12683599
90MP0008932_abnormal_embryonic_tissue1.12111079
91MP0001929_abnormal_gametogenesis1.11184266
92MP0003195_calcinosis1.10913473
93MP0005670_abnormal_white_adipose1.10097623
94MP0005365_abnormal_bile_salt1.10093482
95MP0000470_abnormal_stomach_morphology1.06923514
96MP0010386_abnormal_urinary_bladder1.06487188
97MP0002210_abnormal_sex_determination1.06417299
98MP0005174_abnormal_tail_pigmentation1.05929610
99MP0001986_abnormal_taste_sensitivity1.05475475
100MP0001340_abnormal_eyelid_morphology1.05350972
101MP0003172_abnormal_lysosome_physiology1.05136262
102MP0008007_abnormal_cellular_replicative1.04785148
103MP0000639_abnormal_adrenal_gland1.04753482
104MP0000490_abnormal_crypts_of1.04127719
105MP0003950_abnormal_plasma_membrane1.03187224
106MP0001672_abnormal_embryogenesis/_devel1.02211369
107MP0005380_embryogenesis_phenotype1.02211369
108MP0000015_abnormal_ear_pigmentation1.01403264
109MP0003137_abnormal_impulse_conducting1.00843889
110MP0002095_abnormal_skin_pigmentation1.00617350
111MP0002752_abnormal_somatic_nervous1.00297860
112MP0002111_abnormal_tail_morphology0.96212440
113MP0003755_abnormal_palate_morphology0.95525724
114MP0001502_abnormal_circadian_rhythm0.95325047
115MP0002332_abnormal_exercise_endurance0.93127554
116MP0000026_abnormal_inner_ear0.92766871
117MP0009745_abnormal_behavioral_response0.91694473
118MP0002876_abnormal_thyroid_physiology0.91426903
119MP0003122_maternal_imprinting0.90634581
120MP0003077_abnormal_cell_cycle0.90324593
121MP0004185_abnormal_adipocyte_glucose0.89707056
122MP0002557_abnormal_social/conspecific_i0.89137070
123MP0003937_abnormal_limbs/digits/tail_de0.89018074
124MP0002075_abnormal_coat/hair_pigmentati0.88579008
125MP0003045_fibrosis0.88390556
126MP0000350_abnormal_cell_proliferation0.87509122
127MP0002796_impaired_skin_barrier0.87401395
128MP0000653_abnormal_sex_gland0.87245473
129MP0003935_abnormal_craniofacial_develop0.85944551
130MP0005058_abnormal_lysosome_morphology0.85861426
131MP0005075_abnormal_melanosome_morpholog0.85616001
132MP0002932_abnormal_joint_morphology0.85455321
133MP0001188_hyperpigmentation0.85281124
134MP0005220_abnormal_exocrine_pancreas0.84431937
135MP0003938_abnormal_ear_development0.84399347
136MP0001145_abnormal_male_reproductive0.83617850
137MP0004264_abnormal_extraembryonic_tissu0.81777041
138MP0004145_abnormal_muscle_electrophysio0.81610048
139MP0001186_pigmentation_phenotype0.81042641
140MP0001727_abnormal_embryo_implantation0.80246664
141MP0005085_abnormal_gallbladder_physiolo0.79673493
142MP0001730_embryonic_growth_arrest0.79542483
143MP0003693_abnormal_embryo_hatching0.79510577
144MP0002114_abnormal_axial_skeleton0.78100090
145MP0003121_genomic_imprinting0.77458025
146MP0005367_renal/urinary_system_phenotyp0.77219776
147MP0000516_abnormal_urinary_system0.77219776
148MP0005266_abnormal_metabolism0.77171766
149MP0005394_taste/olfaction_phenotype0.76702939
150MP0005499_abnormal_olfactory_system0.76702939
151MP0005636_abnormal_mineral_homeostasis0.75879349
152MP0002080_prenatal_lethality0.75862562
153MP0002229_neurodegeneration0.75404771
154MP0006292_abnormal_olfactory_placode0.74675388
155MP0000762_abnormal_tongue_morphology0.74385901
156MP0003984_embryonic_growth_retardation0.74129311
157MP0002090_abnormal_vision0.73325328
158MP0005379_endocrine/exocrine_gland_phen0.70934338
159MP0002088_abnormal_embryonic_growth/wei0.70740159
160MP0002116_abnormal_craniofacial_bone0.70396235
161MP0001970_abnormal_pain_threshold0.69594266
162MP0002733_abnormal_thermal_nociception0.68632899
163MP0005645_abnormal_hypothalamus_physiol0.68210150
164MP0003943_abnormal_hepatobiliary_system0.67079889
165MP0002882_abnormal_neuron_morphology0.64747007
166MP0003699_abnormal_female_reproductive0.64466911
167MP0005330_cardiomyopathy0.64104029
168MP0000955_abnormal_spinal_cord0.63740455
169MP0001286_abnormal_eye_development0.62085155
170MP0003942_abnormal_urinary_system0.61909952

Predicted human phenotypes

RankGene SetZ-score
1Congenital stationary night blindness (HP:0007642)6.61567767
2Dyschromatopsia (HP:0007641)5.75264896
3Bony spicule pigmentary retinopathy (HP:0007737)5.29305196
4Annular pancreas (HP:0001734)4.49479697
5Absent rod-and cone-mediated responses on ERG (HP:0007688)4.46171743
6Rib fusion (HP:0000902)4.42253605
7Acute necrotizing encephalopathy (HP:0006965)4.39520315
8Facial hemangioma (HP:0000329)4.33726173
9Mitochondrial inheritance (HP:0001427)4.29850594
10Abnormal rod and cone electroretinograms (HP:0008323)4.28279506
11Intestinal atresia (HP:0011100)4.26376077
12Acute encephalopathy (HP:0006846)4.23740407
13Abnormal mitochondria in muscle tissue (HP:0008316)4.22120255
14Concave nail (HP:0001598)4.16914334
15Hepatocellular necrosis (HP:0001404)4.15452516
16Hepatic necrosis (HP:0002605)4.13363213
17Increased CSF lactate (HP:0002490)4.12258266
18Rectovaginal fistula (HP:0000143)4.12197971
19Rectal fistula (HP:0100590)4.12197971
20Chorioretinal atrophy (HP:0000533)4.04858992
21Pendular nystagmus (HP:0012043)4.00939435
22Abnormality of macular pigmentation (HP:0008002)3.94430795
23Central scotoma (HP:0000603)3.94087863
24Alopecia of scalp (HP:0002293)3.92448159
25Hypochromic microcytic anemia (HP:0004840)3.87269750
26Intestinal fistula (HP:0100819)3.81609723
27Pigmentary retinal degeneration (HP:0001146)3.76894143
28Progressive macrocephaly (HP:0004481)3.72515201
29Turricephaly (HP:0000262)3.71836434
30Vaginal fistula (HP:0004320)3.68866829
31Type I transferrin isoform profile (HP:0003642)3.62852011
32Pustule (HP:0200039)3.56832975
33Poikiloderma (HP:0001029)3.54299194
34Lipid accumulation in hepatocytes (HP:0006561)3.46314406
35Aplasia/Hypoplasia involving the carpal bones (HP:0006502)3.44215505
36Scotoma (HP:0000575)3.37326949
37Increased IgM level (HP:0003496)3.34726095
38Male infertility (HP:0003251)3.33674642
39Decreased activity of mitochondrial respiratory chain (HP:0008972)3.33051586
40Abnormal activity of mitochondrial respiratory chain (HP:0011922)3.33051586
41Ulnar bowing (HP:0003031)3.32357926
42Anteriorly placed anus (HP:0001545)3.22985604
43Abnormal hemoglobin (HP:0011902)3.18119985
44Renal Fanconi syndrome (HP:0001994)3.17542887
45Hyperglycinemia (HP:0002154)3.16603700
46Increased hepatocellular lipid droplets (HP:0006565)3.16292425
47Type II lissencephaly (HP:0007260)3.16094980
48Abnormal protein glycosylation (HP:0012346)3.13020616
49Abnormal glycosylation (HP:0012345)3.13020616
50Abnormal isoelectric focusing of serum transferrin (HP:0003160)3.13020616
51Abnormal protein N-linked glycosylation (HP:0012347)3.13020616
52Coronal craniosynostosis (HP:0004440)3.08486908
53Attenuation of retinal blood vessels (HP:0007843)3.06725341
54Short humerus (HP:0005792)3.06167500
55Albinism (HP:0001022)3.04905689
56Increased serum lactate (HP:0002151)3.01838570
57Lactic acidosis (HP:0003128)2.99537970
58Tongue fasciculations (HP:0001308)2.99326305
59Cerebral edema (HP:0002181)2.98519570
603-Methylglutaconic aciduria (HP:0003535)2.98470836
61Pancreatic cysts (HP:0001737)2.97230282
62Posterior subcapsular cataract (HP:0007787)2.91366999
63Severe visual impairment (HP:0001141)2.91079682
64Generalized aminoaciduria (HP:0002909)2.88822520
65Molar tooth sign on MRI (HP:0002419)2.87590134
66Abnormality of midbrain morphology (HP:0002418)2.87590134
67Aplasia/hypoplasia of the humerus (HP:0006507)2.84409343
68Choroideremia (HP:0001139)2.83560205
69Retinal dysplasia (HP:0007973)2.82955471
70Vitreoretinal degeneration (HP:0000655)2.82144431
71Methylmalonic aciduria (HP:0012120)2.78797869
72Muscle fibrillation (HP:0010546)2.73432705
73Methylmalonic acidemia (HP:0002912)2.73192666
74Decreased activity of cytochrome C oxidase in muscle tissue (HP:0003688)2.68699322
75Large for gestational age (HP:0001520)2.68620401
76Decreased central vision (HP:0007663)2.67408222
77Absent radius (HP:0003974)2.66829368
78Respiratory failure (HP:0002878)2.66565910
79Pancreatic fibrosis (HP:0100732)2.66249457
80True hermaphroditism (HP:0010459)2.65679666
81Orthostatic hypotension (HP:0001278)2.64511083
82Short chin (HP:0000331)2.64043023
83Abolished electroretinogram (ERG) (HP:0000550)2.63176578
84Alacrima (HP:0000522)2.61129889
85Congenital hip dislocation (HP:0001374)2.60134948
86Pancreatic islet-cell hyperplasia (HP:0004510)2.59874353
87Absent forearm bone (HP:0003953)2.56954568
88Aplasia involving forearm bones (HP:0009822)2.56954568
89Medial flaring of the eyebrow (HP:0010747)2.56390056
90Abnormality of the aortic arch (HP:0012303)2.56280284
91Increased intramyocellular lipid droplets (HP:0012240)2.55493515
92Reduced antithrombin III activity (HP:0001976)2.53687380
93Abnormal number of erythroid precursors (HP:0012131)2.53527129
94Mucopolysacchariduria (HP:0008155)2.50852399
95Urinary glycosaminoglycan excretion (HP:0003541)2.50852399
96Photophobia (HP:0000613)2.50658800
97Lethargy (HP:0001254)2.50465882
98Hamartoma (HP:0010566)2.49385937
99Patellar aplasia (HP:0006443)2.48950566
100Dysautonomia (HP:0002459)2.46723818
101Vertebral hypoplasia (HP:0008417)2.45811401
102Aplasia/Hypoplasia of the vertebrae (HP:0008515)2.45811401
103Increased muscle lipid content (HP:0009058)2.44526051
104Squamous cell carcinoma (HP:0002860)2.44162776
105Abnormality of dicarboxylic acid metabolism (HP:0010995)2.42812214
106Dicarboxylic aciduria (HP:0003215)2.42812214
107Renal cortical cysts (HP:0000803)2.42021248
108Exercise intolerance (HP:0003546)2.39581963
109Hypotrichosis (HP:0001006)2.36668090
110Abnormality of mucopolysaccharide metabolism (HP:0011020)2.35526449
111Abnormality of polysaccharide metabolism (HP:0011012)2.35526449
112Abnormality of glycosaminoglycan metabolism (HP:0004371)2.35526449
113Optic disc pallor (HP:0000543)2.35126339
114Volvulus (HP:0002580)2.31993622
115Type II diabetes mellitus (HP:0005978)2.31573927
116Abnormality of the astrocytes (HP:0100707)2.31394331
117Astrocytoma (HP:0009592)2.31394331
118Aplasia/Hypoplasia of the patella (HP:0006498)2.30935942
119Abnormality of male internal genitalia (HP:0000022)2.29511580
120Abnormality of alanine metabolism (HP:0010916)2.28523917
121Hyperalaninemia (HP:0003348)2.28523917
122Abnormality of pyruvate family amino acid metabolism (HP:0010915)2.28523917
123Absent thumb (HP:0009777)2.28367749
124Broad alveolar ridges (HP:0000187)2.28069782
125CNS demyelination (HP:0007305)2.27519789
126Premature skin wrinkling (HP:0100678)2.27018527
127Abnormality of the labia minora (HP:0012880)2.25771801
128Capillary hemangiomas (HP:0005306)2.21695406
129Gastrointestinal atresia (HP:0002589)2.21468323
130Aplasia of the musculature (HP:0100854)2.21075073
131Reticulocytopenia (HP:0001896)2.19959353
132Basal cell carcinoma (HP:0002671)2.19834005
133Congenital, generalized hypertrichosis (HP:0004540)2.19556215
134Abnormality of cells of the erythroid lineage (HP:0012130)2.19116435
135Hypotelorism (HP:0000601)2.18746535
136Nephrogenic diabetes insipidus (HP:0009806)2.18702117
137Muscle abnormality related to mitochondrial dysfunction (HP:0003800)2.17603670
138Hypokinesia (HP:0002375)2.14627403
139Nephronophthisis (HP:0000090)2.14199960
140Abnormality of serum amino acid levels (HP:0003112)2.13512917
141Clumsiness (HP:0002312)2.11292604
142Abnormality of glycine metabolism (HP:0010895)2.09063841
143Abnormality of serine family amino acid metabolism (HP:0010894)2.09063841
144Popliteal pterygium (HP:0009756)2.08399052
145Testicular atrophy (HP:0000029)2.08152988
146Growth hormone excess (HP:0000845)2.08126258
147Aplasia/hypoplasia of the uterus (HP:0008684)2.05656208
148Polycythemia (HP:0001901)2.04936689
149Sclerocornea (HP:0000647)2.04050615
150Progressive microcephaly (HP:0000253)2.03580504
151Decreased lacrimation (HP:0000633)2.02399914
152Macular degeneration (HP:0000608)2.01987114
153Hyperglycinuria (HP:0003108)2.01502372
154Aplasia/Hypoplasia of the uvula (HP:0010293)2.00428685
155Bifid uvula (HP:0000193)1.99871256
156Increased serum pyruvate (HP:0003542)1.99555295
157Abnormality of urine glucose concentration (HP:0011016)1.99133013
158Glycosuria (HP:0003076)1.99133013
159Dysostosis multiplex (HP:0000943)1.98629181
160Choanal stenosis (HP:0000452)1.96045379
161Cerebellar dysplasia (HP:0007033)1.94580279
162Congenital primary aphakia (HP:0007707)1.92425712
163Amelogenesis imperfecta (HP:0000705)1.91783289
164Abnormality of renal resorption (HP:0011038)1.91759499
165Polyphagia (HP:0002591)1.91064407
166Diaphragmatic weakness (HP:0009113)1.89658990
167Increased number of teeth (HP:0011069)1.89645675
168Joint stiffness (HP:0001387)1.89593941
169Gait imbalance (HP:0002141)1.88476617
170Abnormality of the renal cortex (HP:0011035)1.87325878
171Lissencephaly (HP:0001339)1.86902897
172Narrow nasal bridge (HP:0000446)1.86712520
173Cystic hygroma (HP:0000476)1.84794723
174Opisthotonus (HP:0002179)1.82574361
175Abnormality of glycolysis (HP:0004366)1.81844816
176Abnormality of methionine metabolism (HP:0010901)1.80780507
177Emotional lability (HP:0000712)1.79630799
178Hypoplasia of the uterus (HP:0000013)1.78973542
179Leukodystrophy (HP:0002415)1.77145206
180Brushfield spots (HP:0001088)1.77123092
181Exertional dyspnea (HP:0002875)1.76373427
182Meckel diverticulum (HP:0002245)1.75131116
183Amniotic constriction ring (HP:0009775)1.72405743
184Abnormality of placental membranes (HP:0011409)1.72405743
185Vaginal atresia (HP:0000148)1.71668841
186Aplasia/Hypoplasia of the tongue (HP:0010295)1.71436596
187Cystic liver disease (HP:0006706)1.70630838
188Abnormal respiratory epithelium morphology (HP:0012253)1.69946686
189Abnormal respiratory motile cilium morphology (HP:0005938)1.69946686
190Macrocytic anemia (HP:0001972)1.69037009
191Abnormality of the ileum (HP:0001549)1.68902921
192Genital tract atresia (HP:0001827)1.67073616
193Congenital hepatic fibrosis (HP:0002612)1.66469584

Predicted kinase interactions (KEA)

RankGene SetZ-score
1ICK5.88902281
2MAPK154.93952705
3DDR24.87794834
4MAP3K64.85984774
5VRK24.10698754
6PINK13.83744440
7STK163.58169033
8BCKDK3.32640166
9BUB13.30659308
10ZAK3.11791891
11MAP3K113.02720624
12TYRO32.83987498
13FGR2.63461279
14FRK2.51622505
15PRKD22.49143847
16MATK2.46294797
17TESK22.44542800
18NME12.42450550
19YES12.25153770
20DAPK12.18974127
21UHMK12.17959117
22PBK2.15743512
23AKT32.15122379
24ADRBK22.11843715
25MAP4K22.05661254
26PDGFRA2.00179638
27NUAK11.99494356
28DYRK1B1.97287907
29TLK11.96610427
30BMX1.93112585
31PLK41.83215903
32CSK1.77590971
33LATS21.75507190
34VRK11.71673484
35CSNK1G31.60463924
36MAP2K71.60099943
37SRPK11.59985670
38PIM21.58105872
39MAPKAPK51.56384275
40PDK21.56358864
41BMPR1B1.52617701
42LIMK11.50762492
43CDK61.46834521
44MST41.45085880
45MAP3K121.45061414
46NME21.44088765
47WNK31.41632013
48WNK41.39894098
49CDK71.39601010
50TESK11.37682490
51EIF2AK11.36217621
52PHKG21.34849157
53PHKG11.34849157
54TRPM71.33547395
55CSNK1A1L1.31846771
56GRK11.24323394
57CDC42BPA1.21757908
58DYRK31.20928764
59BRSK21.18327104
60CHEK21.18155840
61TRIM281.17938561
62LATS11.17423616
63INSRR1.17171339
64CSNK1G21.10769475
65MAPK111.10681829
66MAP3K91.09069969
67PIM11.04445260
68FLT31.03575026
69HIPK21.00687791
70RPS6KC11.00568263
71RPS6KL11.00568263
72OXSR10.99619355
73WEE10.98163574
74MUSK0.97490440
75PLK10.95268710
76KDR0.94475953
77RPS6KA50.94025230
78CAMKK20.93278751
79GSK3A0.92267055
80TRIB30.92095880
81TAOK30.90613550
82MAP3K40.89692649
83PRKCI0.88118120
84TAF10.87726755
85CCNB10.86335979
86STK390.84158204
87PRKAA10.83606091
88RPS6KA60.83219083
89MAPK130.82812691
90PRPF4B0.81989564
91PLK30.77066420
92TAOK20.74847879
93MTOR0.74718900
94BCR0.70915350
95PKN10.67171202
96ABL20.67084534
97MAP3K100.65618921
98STK38L0.65548031
99ADRBK10.64999180
100BRSK10.62320747
101EIF2AK30.62066803
102PRKCE0.61914900
103FER0.60046731
104STK380.58739597
105RPS6KA10.58582112
106ERBB30.57003505
107RAF10.56980408
108NEK10.55697087
109PLK20.54350866
110PRKCG0.52662280
111CSNK1A10.51629001
112MAP2K40.51555621
113ATR0.51330147
114NEK20.50004066
115DYRK20.49796964
116CDK20.47945730
117GRK50.47799026
118TSSK60.47671492
119RPS6KB10.47539579
120CDC70.45827611
121PRKAA20.44831597
122TTK0.44809304
123PAK60.44155945
124CSNK1G10.43847126
125EPHA20.43563655
126CAMK2G0.42731876
127RPS6KB20.42719178
128STK30.42679270
129CAMK2D0.41044377
130CAMK2B0.41024571
131PRKCZ0.40070118
132CDK120.40029147
133MAPK10.37113074
134MAPK140.36840722
135MARK10.36737003
136AURKA0.36496123
137SCYL20.36475492
138CSNK2A10.35296654
139PRKD30.35043249
140PAK30.34926258
141EGFR0.33437597
142CDK190.33404183
143PDGFRB0.32706862
144MAPK30.32665507
145CAMK2A0.32513622
146MAPK100.32470860
147MELK0.31134421
148ATM0.30604587
149CDK10.30422256
150RPS6KA40.30350775
151CHEK10.27939331
152CDK150.27896256
153CDK80.27003186
154RPS6KA30.25916548
155MARK20.25100740
156CDK11A0.24989908
157MAPKAPK30.24755075
158CDK180.24716047
159GSK3B0.24603053
160PRKD10.24566870
161SGK10.23853217
162SIK20.22725183
163TAOK10.22385751
164AURKB0.21795692
165AKT10.18169609
166CDK140.17266704
167PRKDC0.16597540
168CSNK2A20.16010909
169PRKACG0.15966088

Predicted pathways (KEGG)

RankGene SetZ-score
1Phototransduction_Homo sapiens_hsa047447.73012981
2Fatty acid biosynthesis_Homo sapiens_hsa000614.75520301
3Mismatch repair_Homo sapiens_hsa034303.98352183
4Oxidative phosphorylation_Homo sapiens_hsa001903.88465520
5Proteasome_Homo sapiens_hsa030503.52211072
6Parkinsons disease_Homo sapiens_hsa050123.28839023
7Circadian rhythm_Homo sapiens_hsa047102.88602255
8RNA polymerase_Homo sapiens_hsa030202.85927833
9* Base excision repair_Homo sapiens_hsa034102.84059333
10Ribosome_Homo sapiens_hsa030102.81945001
11Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001302.37590230
12mTOR signaling pathway_Homo sapiens_hsa041502.37432430
13Huntingtons disease_Homo sapiens_hsa050162.28553303
14Taurine and hypotaurine metabolism_Homo sapiens_hsa004302.26871156
15DNA replication_Homo sapiens_hsa030302.22222203
16Maturity onset diabetes of the young_Homo sapiens_hsa049502.18750150
17Hippo signaling pathway_Homo sapiens_hsa043902.11169829
18Protein export_Homo sapiens_hsa030602.10127353
19Sulfur metabolism_Homo sapiens_hsa009202.05505977
20Alzheimers disease_Homo sapiens_hsa050102.01619899
21Hedgehog signaling pathway_Homo sapiens_hsa043401.85859897
22Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049321.74512927
23mRNA surveillance pathway_Homo sapiens_hsa030151.73758555
24Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005331.73360733
25Synthesis and degradation of ketone bodies_Homo sapiens_hsa000721.67793809
26Arginine and proline metabolism_Homo sapiens_hsa003301.67765835
27Pyrimidine metabolism_Homo sapiens_hsa002401.67296490
28Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006301.58836466
29Notch signaling pathway_Homo sapiens_hsa043301.56812884
30Nucleotide excision repair_Homo sapiens_hsa034201.54567181
31Terpenoid backbone biosynthesis_Homo sapiens_hsa009001.50466568
32Valine, leucine and isoleucine degradation_Homo sapiens_hsa002801.49802659
33Biosynthesis of amino acids_Homo sapiens_hsa012301.49026029
34RNA transport_Homo sapiens_hsa030131.48636751
35Longevity regulating pathway - mammal_Homo sapiens_hsa042111.47829702
36Adherens junction_Homo sapiens_hsa045201.47446036
37Butanoate metabolism_Homo sapiens_hsa006501.46446022
38Fanconi anemia pathway_Homo sapiens_hsa034601.35524413
39Propanoate metabolism_Homo sapiens_hsa006401.34232229
40Homologous recombination_Homo sapiens_hsa034401.33066301
41Peroxisome_Homo sapiens_hsa041461.32485306
42Collecting duct acid secretion_Homo sapiens_hsa049661.28090441
43Fatty acid metabolism_Homo sapiens_hsa012121.27769912
44Cardiac muscle contraction_Homo sapiens_hsa042601.26373565
45Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005201.26050934
46p53 signaling pathway_Homo sapiens_hsa041151.25603059
47Fatty acid elongation_Homo sapiens_hsa000621.25304284
48Folate biosynthesis_Homo sapiens_hsa007901.24951931
49TGF-beta signaling pathway_Homo sapiens_hsa043501.24001342
50Lysine degradation_Homo sapiens_hsa003101.23665866
51Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030081.21310021
52Steroid biosynthesis_Homo sapiens_hsa001001.20524792
53Purine metabolism_Homo sapiens_hsa002301.18637847
54Cell cycle_Homo sapiens_hsa041101.17036236
55Glycine, serine and threonine metabolism_Homo sapiens_hsa002601.16928340
56Wnt signaling pathway_Homo sapiens_hsa043101.14659142
57Bladder cancer_Homo sapiens_hsa052191.13952301
58Oocyte meiosis_Homo sapiens_hsa041141.12456114
59Fructose and mannose metabolism_Homo sapiens_hsa000511.10904976
602-Oxocarboxylic acid metabolism_Homo sapiens_hsa012101.10735622
61Glutathione metabolism_Homo sapiens_hsa004801.09843690
62Basal cell carcinoma_Homo sapiens_hsa052171.09530768
63Tryptophan metabolism_Homo sapiens_hsa003801.07832096
64Non-homologous end-joining_Homo sapiens_hsa034501.06656510
65Primary bile acid biosynthesis_Homo sapiens_hsa001201.01252211
66VEGF signaling pathway_Homo sapiens_hsa043701.00390490
67Metabolic pathways_Homo sapiens_hsa011001.00107558
68Pyruvate metabolism_Homo sapiens_hsa006200.99484728
69alpha-Linolenic acid metabolism_Homo sapiens_hsa005920.96407854
70Spliceosome_Homo sapiens_hsa030400.94636015
71Transcriptional misregulation in cancer_Homo sapiens_hsa052020.94485134
72Caffeine metabolism_Homo sapiens_hsa002320.93387927
73Cysteine and methionine metabolism_Homo sapiens_hsa002700.89920587
74Linoleic acid metabolism_Homo sapiens_hsa005910.88955343
75Sulfur relay system_Homo sapiens_hsa041220.88910253
76Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa045500.88410242
77Cytosolic DNA-sensing pathway_Homo sapiens_hsa046230.86849088
78Chemical carcinogenesis_Homo sapiens_hsa052040.86625891
79Colorectal cancer_Homo sapiens_hsa052100.86401791
80Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008600.85373964
81Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009800.85340069
82Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.83671606
83Citrate cycle (TCA cycle)_Homo sapiens_hsa000200.82775003
84Tight junction_Homo sapiens_hsa045300.82685924
85Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.80692418
86Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.80014424
87ErbB signaling pathway_Homo sapiens_hsa040120.79939182
88Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010400.79187172
89N-Glycan biosynthesis_Homo sapiens_hsa005100.78875033
90Drug metabolism - cytochrome P450_Homo sapiens_hsa009820.76127409
91Fatty acid degradation_Homo sapiens_hsa000710.74776644
92AMPK signaling pathway_Homo sapiens_hsa041520.74616373
93Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005630.73924640
94Endometrial cancer_Homo sapiens_hsa052130.73735330
95Insulin signaling pathway_Homo sapiens_hsa049100.73187791
96Dorso-ventral axis formation_Homo sapiens_hsa043200.71951176
97Ubiquitin mediated proteolysis_Homo sapiens_hsa041200.71829035
98Tyrosine metabolism_Homo sapiens_hsa003500.71095160
99Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006010.70842415
100Arginine biosynthesis_Homo sapiens_hsa002200.68773883
101Drug metabolism - other enzymes_Homo sapiens_hsa009830.67361215
102Ascorbate and aldarate metabolism_Homo sapiens_hsa000530.67049790
103Neuroactive ligand-receptor interaction_Homo sapiens_hsa040800.65166752
104Nitrogen metabolism_Homo sapiens_hsa009100.64278635
105Carbon metabolism_Homo sapiens_hsa012000.63851747
106beta-Alanine metabolism_Homo sapiens_hsa004100.63426628
107Steroid hormone biosynthesis_Homo sapiens_hsa001400.63297770
108Choline metabolism in cancer_Homo sapiens_hsa052310.62393872
109Chronic myeloid leukemia_Homo sapiens_hsa052200.61864928
110Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049640.61776958
111Olfactory transduction_Homo sapiens_hsa047400.61689151
112Gap junction_Homo sapiens_hsa045400.60257627
113GABAergic synapse_Homo sapiens_hsa047270.59830443
114MicroRNAs in cancer_Homo sapiens_hsa052060.59072736
115Galactose metabolism_Homo sapiens_hsa000520.57118104
116Pentose and glucuronate interconversions_Homo sapiens_hsa000400.55178980
117Central carbon metabolism in cancer_Homo sapiens_hsa052300.52550249
118Vitamin digestion and absorption_Homo sapiens_hsa049770.52435526
119Regulation of autophagy_Homo sapiens_hsa041400.49615940
120Shigellosis_Homo sapiens_hsa051310.48463599
121Retinol metabolism_Homo sapiens_hsa008300.46097539
122Pantothenate and CoA biosynthesis_Homo sapiens_hsa007700.45830002
123Ether lipid metabolism_Homo sapiens_hsa005650.43673156
124Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.42834715
125Synaptic vesicle cycle_Homo sapiens_hsa047210.42153827
126Arachidonic acid metabolism_Homo sapiens_hsa005900.41896323
127Vibrio cholerae infection_Homo sapiens_hsa051100.41722469
128Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.41123413
129Selenocompound metabolism_Homo sapiens_hsa004500.39622070
130Glycolysis / Gluconeogenesis_Homo sapiens_hsa000100.39454642
131Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.37880328
132MAPK signaling pathway_Homo sapiens_hsa040100.37306754
133Thyroid hormone signaling pathway_Homo sapiens_hsa049190.36215934
134Fat digestion and absorption_Homo sapiens_hsa049750.34116332
135Small cell lung cancer_Homo sapiens_hsa052220.33764128
136GnRH signaling pathway_Homo sapiens_hsa049120.33718460
137Acute myeloid leukemia_Homo sapiens_hsa052210.32271770
138Regulation of actin cytoskeleton_Homo sapiens_hsa048100.32139340
139Basal transcription factors_Homo sapiens_hsa030220.31562928
140Glycosaminoglycan degradation_Homo sapiens_hsa005310.30153606
141SNARE interactions in vesicular transport_Homo sapiens_hsa041300.29587796
142Progesterone-mediated oocyte maturation_Homo sapiens_hsa049140.28445053
143Pancreatic cancer_Homo sapiens_hsa052120.28355033
144Glucagon signaling pathway_Homo sapiens_hsa049220.26996513
145Fc epsilon RI signaling pathway_Homo sapiens_hsa046640.25792983
146RNA degradation_Homo sapiens_hsa030180.25352067
147Proteoglycans in cancer_Homo sapiens_hsa052050.25030473
148Nicotine addiction_Homo sapiens_hsa050330.23713793
149Thyroid cancer_Homo sapiens_hsa052160.23254508
150Dopaminergic synapse_Homo sapiens_hsa047280.23067251
151PI3K-Akt signaling pathway_Homo sapiens_hsa041510.22697705
152Estrogen signaling pathway_Homo sapiens_hsa049150.20529142
153Cyanoamino acid metabolism_Homo sapiens_hsa004600.18964419
154Prolactin signaling pathway_Homo sapiens_hsa049170.18869111
155Prostate cancer_Homo sapiens_hsa052150.18774581
156Protein processing in endoplasmic reticulum_Homo sapiens_hsa041410.17935890
157Viral carcinogenesis_Homo sapiens_hsa052030.17812022
158Bacterial invasion of epithelial cells_Homo sapiens_hsa051000.16263624
159Vitamin B6 metabolism_Homo sapiens_hsa007500.15697214
160Mineral absorption_Homo sapiens_hsa049780.15005954
161Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004000.13376241
162Glioma_Homo sapiens_hsa052140.13314556
163Glycerophospholipid metabolism_Homo sapiens_hsa005640.13222499
164Endocytosis_Homo sapiens_hsa041440.12769148
165One carbon pool by folate_Homo sapiens_hsa006700.12044607
166Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa009700.12020629
167HIF-1 signaling pathway_Homo sapiens_hsa040660.11920863

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