ATP6V1C2

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 component of vacuolar ATPase (V-ATPase), a multisubunit enzyme that mediates acidification of eukaryotic intracellular organelles. V-ATPase dependent organelle acidification is necessary for such intracellular processes as protein sorting, zymogen activation, receptor-mediated endocytosis, and synaptic vesicle proton gradient generation. V-ATPase is composed of a cytosolic V1 domain and a transmembrane V0 domain. The V1 domain consists of three A,three B, and two G subunits, as well as a C, D, E, F, and H subunit. The V1 domain contains the ATP catalytic site. This gene encodes alternate transcriptional splice variants, encoding different V1 domain C subunit isoforms. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1desmosome organization (GO:0002934)8.15719168
2branching involved in prostate gland morphogenesis (GO:0060442)7.85446621
3surfactant homeostasis (GO:0043129)7.30723852
4establishment of skin barrier (GO:0061436)6.45386536
5chemical homeostasis within a tissue (GO:0048875)6.38298518
6mitochondrial ATP synthesis coupled proton transport (GO:0042776)6.29713798
7regulation of water loss via skin (GO:0033561)6.26470109
8chaperone-mediated protein transport (GO:0072321)5.81437876
9artery development (GO:0060840)5.79544718
10prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis (GO:0060525.76947811
11viral transcription (GO:0019083)5.45595316
12regulation of epithelial cell proliferation involved in prostate gland development (GO:0060768)5.35624135
13ribosomal small subunit biogenesis (GO:0042274)5.33750052
14translational termination (GO:0006415)5.32892246
15hormone catabolic process (GO:0042447)5.31598981
16ATP synthesis coupled proton transport (GO:0015986)5.28339627
17energy coupled proton transport, down electrochemical gradient (GO:0015985)5.28339627
18prostate gland epithelium morphogenesis (GO:0060740)5.28086718
19sphingoid metabolic process (GO:0046519)5.27070142
20proteasome assembly (GO:0043248)5.10804266
21ribosomal large subunit biogenesis (GO:0042273)5.10534147
22mitotic cell cycle arrest (GO:0071850)5.05085289
23cotranslational protein targeting to membrane (GO:0006613)5.03479995
24SRP-dependent cotranslational protein targeting to membrane (GO:0006614)5.02973212
25protein targeting to ER (GO:0045047)4.97774906
26intestinal epithelial cell development (GO:0060576)4.89494135
27establishment of protein localization to mitochondrial membrane (GO:0090151)4.86547693
28multicellular organismal water homeostasis (GO:0050891)4.86069650
29establishment of protein localization to endoplasmic reticulum (GO:0072599)4.83542868
30positive regulation of steroid hormone secretion (GO:2000833)4.76900541
31lung secretory cell differentiation (GO:0061140)4.71516624
32keratinization (GO:0031424)4.70634662
33protein localization to endoplasmic reticulum (GO:0070972)4.66443321
34epithelial cell differentiation involved in prostate gland development (GO:0060742)4.63043884
35L-fucose metabolic process (GO:0042354)4.62551111
36L-fucose catabolic process (GO:0042355)4.62551111
37fucose catabolic process (GO:0019317)4.62551111
38maturation of SSU-rRNA (GO:0030490)4.61985171
39water-soluble vitamin biosynthetic process (GO:0042364)4.55172261
40translational elongation (GO:0006414)4.50766898
41rRNA modification (GO:0000154)4.47054415
42mitochondrial electron transport, NADH to ubiquinone (GO:0006120)4.41179326
43diol metabolic process (GO:0034311)4.38334158
44rRNA methylation (GO:0031167)4.33952929
45protein localization to endosome (GO:0036010)4.31872349
46translational initiation (GO:0006413)4.31621989
47calcium-independent cell-cell adhesion via plasma membrane cell-adhesion molecules (GO:0016338)4.27709163
48peptide catabolic process (GO:0043171)4.27324831
49ribosomal small subunit assembly (GO:0000028)4.26985898
50response to testosterone (GO:0033574)4.26666621
51respiratory electron transport chain (GO:0022904)4.20482352
52pharyngeal system development (GO:0060037)4.19510797
53regulation of receptor binding (GO:1900120)4.15648988
54bundle of His cell to Purkinje myocyte communication (GO:0086069)4.14206437
55electron transport chain (GO:0022900)4.13516211
56termination of RNA polymerase III transcription (GO:0006386)4.12892165
57transcription elongation from RNA polymerase III promoter (GO:0006385)4.12892165
58translation (GO:0006412)4.12686870
59viral life cycle (GO:0019058)4.08868146
60sphingosine metabolic process (GO:0006670)4.07777218
61peptide cross-linking (GO:0018149)4.07691500
62epithelial cell maturation (GO:0002070)4.07279967
63DNA replication checkpoint (GO:0000076)4.04270471
64hemidesmosome assembly (GO:0031581)4.01988501
65water homeostasis (GO:0030104)4.00296274
66glucosamine-containing compound catabolic process (GO:1901072)3.97559316
67nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)3.96221205
68cellular protein complex disassembly (GO:0043624)3.89856940
69mitochondrial respiratory chain complex assembly (GO:0033108)3.88744209
70pyrimidine-containing compound transmembrane transport (GO:0072531)3.86338638
71positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)3.85140770
72CENP-A containing nucleosome assembly (GO:0034080)3.80402691
73keratinocyte differentiation (GO:0030216)3.79310861
74exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay 3.78993681
75mitochondrial respiratory chain complex I assembly (GO:0032981)3.77892453
76NADH dehydrogenase complex assembly (GO:0010257)3.77892453
77mitochondrial respiratory chain complex I biogenesis (GO:0097031)3.77892453
78maintenance of protein localization in endoplasmic reticulum (GO:0035437)3.76344347
79chromatin remodeling at centromere (GO:0031055)3.75469786
80protein-cofactor linkage (GO:0018065)3.74842843
81pseudouridine synthesis (GO:0001522)3.74378792
82rRNA processing (GO:0006364)3.72643577
83protein complex biogenesis (GO:0070271)3.72375095
84ribonucleoprotein complex biogenesis (GO:0022613)3.70619009
85Golgi transport vesicle coating (GO:0048200)3.65633016
86COPI coating of Golgi vesicle (GO:0048205)3.65633016
87nuclear-transcribed mRNA catabolic process, exonucleolytic (GO:0000291)3.62791454
88rRNA metabolic process (GO:0016072)3.59850276
89sodium-independent organic anion transport (GO:0043252)3.50583919
90cellular component biogenesis (GO:0044085)3.48628218
91fucose metabolic process (GO:0006004)3.39249304
92protein neddylation (GO:0045116)3.32105811
93ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)3.31859758
94negative regulation of DNA-dependent DNA replication (GO:2000104)3.29835672
95respiratory chain complex IV assembly (GO:0008535)3.27656276
96regulation of ruffle assembly (GO:1900027)3.26667706
97activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)3.26615555
98valine metabolic process (GO:0006573)3.25748999
99protein targeting to membrane (GO:0006612)3.24931728
100protein targeting to mitochondrion (GO:0006626)3.23856497
101nuclear-transcribed mRNA catabolic process (GO:0000956)3.22815641
102histone exchange (GO:0043486)3.20593827
103epidermis development (GO:0008544)3.20544904
104regulation of steroid hormone secretion (GO:2000831)3.20204598
105protein K6-linked ubiquitination (GO:0085020)3.19618658
106pattern specification involved in kidney development (GO:0061004)3.18517747
107epidermal cell differentiation (GO:0009913)3.15357708
108glandular epithelial cell differentiation (GO:0002067)3.15086571
109tight junction assembly (GO:0070830)3.13872975
110protein complex disassembly (GO:0043241)3.10616662
111protein retention in ER lumen (GO:0006621)3.08511721
112regulation of mitochondrial translation (GO:0070129)3.07960000
113keratinocyte development (GO:0003334)3.06790561
114ectoderm development (GO:0007398)3.06542314
115transcription from mitochondrial promoter (GO:0006390)3.05878753
116kinetochore organization (GO:0051383)3.05505305
117mRNA catabolic process (GO:0006402)3.05413480
118DNA catabolic process, exonucleolytic (GO:0000738)3.05261549
119organelle disassembly (GO:1903008)3.04664439
120macromolecular complex disassembly (GO:0032984)3.03496556
121transcription elongation from RNA polymerase I promoter (GO:0006362)3.02019859
122maturation of 5.8S rRNA (GO:0000460)3.01632221
123regulation of insulin-like growth factor receptor signaling pathway (GO:0043567)3.01521620
124regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090266)3.00337015
125regulation of mitotic spindle checkpoint (GO:1903504)3.00337015
126negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)3.00231343
127angiotensin maturation (GO:0002003)2.96919493
128negative regulation of keratinocyte proliferation (GO:0010839)2.96908425
129cytochrome complex assembly (GO:0017004)2.96905547
130mitochondrial RNA metabolic process (GO:0000959)2.95776639
131mannose metabolic process (GO:0006013)2.95610781
132regulation of DNA endoreduplication (GO:0032875)2.95516066
133centriole replication (GO:0007099)2.94505237
134protein localization to mitochondrion (GO:0070585)2.94100636
135spliceosomal snRNP assembly (GO:0000387)2.93847821
136establishment of protein localization to mitochondrion (GO:0072655)2.93120205
137DNA deamination (GO:0045006)2.92690462
138tRNA processing (GO:0008033)2.92112831
139anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:02.91637373
140keratinocyte proliferation (GO:0043616)2.91597735
141activation of signaling protein activity involved in unfolded protein response (GO:0006987)2.91524959
142beta-amyloid metabolic process (GO:0050435)2.87755952
143positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)2.87728314
144regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)2.87137106
145regulation of natural killer cell differentiation (GO:0032823)2.86799716
146positive regulation of growth hormone secretion (GO:0060124)2.86436618
147ncRNA processing (GO:0034470)2.85673740
148cyclooxygenase pathway (GO:0019371)2.84607520
149intracellular protein transmembrane import (GO:0044743)2.84257164
150molting cycle (GO:0042303)2.83852196
151hair cycle (GO:0042633)2.83852196
152vitamin transmembrane transport (GO:0035461)2.83707058
153cullin deneddylation (GO:0010388)2.83667925
154kinetochore assembly (GO:0051382)2.82794498
155lung cell differentiation (GO:0060479)2.82057935
156ncRNA metabolic process (GO:0034660)2.80821176
157RNA catabolic process (GO:0006401)2.80039291
158regulation of cell proliferation involved in kidney development (GO:1901722)2.78953890
159lung epithelial cell differentiation (GO:0060487)2.78773698
160DNA double-strand break processing (GO:0000729)2.78129148
161* hydrogen ion transmembrane transport (GO:1902600)2.76337608
162negative regulation of ligase activity (GO:0051352)2.73663246
163negative regulation of ubiquitin-protein transferase activity (GO:0051444)2.73663246
164regulation of branching involved in prostate gland morphogenesis (GO:0060687)2.73508226
165mitotic metaphase plate congression (GO:0007080)2.71758069
166potassium ion homeostasis (GO:0055075)2.71284078
167negative regulation of cell fate commitment (GO:0010454)2.70038879
168positive regulation of nuclease activity (GO:0032075)2.70024157
169regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:19022352.69491883
170regulation of glomerular filtration (GO:0003093)2.66482650
171positive regulation of catenin import into nucleus (GO:0035413)2.65046570
172regulation of phospholipase A2 activity (GO:0032429)2.62431374
173regulation of transforming growth factor beta1 production (GO:0032908)2.62379224
174establishment of epithelial cell polarity (GO:0090162)2.61444050
175intermediate filament organization (GO:0045109)2.60158450
176glucuronate metabolic process (GO:0019585)2.58416160
177uronic acid metabolic process (GO:0006063)2.58416160
178cytoskeletal anchoring at plasma membrane (GO:0007016)2.56923910
179lung lobe morphogenesis (GO:0060463)2.55871530
180regulation of protein localization to cell surface (GO:2000008)2.54691124
181regulation of chemokine secretion (GO:0090196)2.54497493
182establishment of apical/basal cell polarity (GO:0035089)2.53882948
183negative regulation of Ras GTPase activity (GO:0034261)2.53819257
184metanephros development (GO:0001656)2.53550438
185regulation of cell-cell adhesion mediated by cadherin (GO:2000047)2.52837844
186response to phenylpropanoid (GO:0080184)2.51338104
187xenobiotic catabolic process (GO:0042178)2.51219301
188apoptotic cell clearance (GO:0043277)2.49719969
189centrosome localization (GO:0051642)2.48277332
190positive regulation of natural killer cell differentiation (GO:0032825)2.47083989
191lung alveolus development (GO:0048286)2.45845827

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1TP63_17297297_ChIP-ChIP_HaCaT_Human7.10856659
2TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse5.22037153
3KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human4.84235308
4GABP_17652178_ChIP-ChIP_JURKAT_Human4.57898223
5EST1_17652178_ChIP-ChIP_JURKAT_Human4.23688737
6FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse4.08968731
7E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse3.99419224
8MYCN_21190229_ChIP-Seq_SHEP-21N_Human3.13399455
9MYC_18555785_ChIP-Seq_MESCs_Mouse3.06048844
10ESR1_21235772_ChIP-Seq_MCF-7_Human3.00346811
11CHD1_19587682_ChIP-ChIP_MESCs_Mouse2.97562863
12SOX9_22984422_ChIP-ChIP_TESTIS_Rat2.92711233
13ELK1_19687146_ChIP-ChIP_HELA_Human2.91452070
14JARID1A_20064375_ChIP-Seq_MESCs_Mouse2.91232589
15CREB1_15753290_ChIP-ChIP_HEK293T_Human2.87440874
16HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human2.83465819
17* ESR2_21235772_ChIP-Seq_MCF-7_Human2.72244745
18ETS1_20019798_ChIP-Seq_JURKAT_Human2.66280536
19ZNF217_24962896_ChIP-Seq_MCF-7_Human2.64472354
20TRIM28_21343339_ChIP-Seq_HEK293_Human2.57799219
21VDR_23849224_ChIP-Seq_CD4+_Human2.54749204
22ELF1_17652178_ChIP-ChIP_JURKAT_Human2.53231585
23SMAD4_19686287_ChIP-ChIP_HaCaT_Human2.43588350
24STAT5_23275557_ChIP-Seq_MAMMARY-EPITHELIUM_Mouse2.43455120
25ZNF263_19887448_ChIP-Seq_K562_Human2.43389502
26E2F4_17652178_ChIP-ChIP_JURKAT_Human2.41117941
27AHR_22903824_ChIP-Seq_MCF-7_Human2.39287974
28ESR1_20079471_ChIP-ChIP_T-47D_Human2.38282603
29SOX2_27498859_Chip-Seq_STOMACH_Mouse2.35854653
30FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human2.34351444
31SOX2_20726797_ChIP-Seq_SW620_Human2.33389139
32TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat2.30241091
33* SOX9_24532713_ChIP-Seq_HFSC_Mouse2.24502248
34MYC_19079543_ChIP-ChIP_MESCs_Mouse2.20335466
35STAT6_21828071_ChIP-Seq_BEAS2B_Human2.16957792
36PADI4_21655091_ChIP-ChIP_MCF-7_Human2.10782347
37FOXP3_21729870_ChIP-Seq_TREG_Human2.09228126
38FOXA1_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human2.06911720
39TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse2.04962858
40RUNX1_27514584_Chip-Seq_MCF-7_Human2.01296663
41MYC_19030024_ChIP-ChIP_MESCs_Mouse2.00086422
42DCP1A_22483619_ChIP-Seq_HELA_Human1.99734455
43EWS_26573619_Chip-Seq_HEK293_Human1.99173791
44SMAD3_18955504_ChIP-ChIP_HaCaT_Human1.98208145
45SMAD2_18955504_ChIP-ChIP_HaCaT_Human1.98208145
46FUS_26573619_Chip-Seq_HEK293_Human1.96976173
47FOXO3_23340844_ChIP-Seq_DLD1_Human1.95882476
48ARNT_22903824_ChIP-Seq_MCF-7_Human1.94349151
49PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse1.92816548
50KLF2_18264089_ChIP-ChIP_MESCs_Mouse1.90300949
51KLF5_18264089_ChIP-ChIP_MESCs_Mouse1.90300949
52KLF4_18264089_ChIP-ChIP_MESCs_Mouse1.90300949
53HCFC1_20581084_ChIP-Seq_MESCs_Mouse1.87072758
54NOTCH1_21737748_ChIP-Seq_TLL_Human1.86197776
55FOXO3_22982991_ChIP-Seq_MACROPHAGES_Mouse1.85989913
56* GATA4_25053715_ChIP-Seq_YYC3_Human1.85167473
57* FOXA1_21915096_ChIP-Seq_LNCaP-1F5_Human1.84804459
58VDR_22108803_ChIP-Seq_LS180_Human1.82880843
59P63_26484246_Chip-Seq_KERATINOCYTES_Human1.76453608
60TTF2_22483619_ChIP-Seq_HELA_Human1.75513235
61AR_21915096_ChIP-Seq_LNCaP-1F5_Human1.73372076
62CLOCK_20551151_ChIP-Seq_293T_Human1.70062017
63GATA3_24758297_ChIP-Seq_MCF-7_Human1.68930142
64MYC_18940864_ChIP-ChIP_HL60_Human1.68490945
65MYC_18358816_ChIP-ChIP_MESCs_Mouse1.66930802
66* TFAP2C_20629094_ChIP-Seq_MCF-7_Human1.65549031
67CDX2_20551321_ChIP-Seq_CACO-2_Human1.64425460
68ZNF652_21678463_ChIP-ChIP_ZR75-1_Human1.61172345
69CDX2_19796622_ChIP-Seq_MESCs_Mouse1.59959118
70KLF6_26769127_Chip-Seq_PDAC-Cell_line_Human1.56699388
71ERA_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human1.56620456
72GATA6_25053715_ChIP-Seq_YYC3_Human1.52999578
73CTNNB1_24651522_ChIP-Seq_LGR5+_INTESTINAL_STEM_Human1.52499543
74SMARCA4_20176728_ChIP-ChIP_TSCs_Mouse1.49801768
75GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.48522231
76SRF_21415370_ChIP-Seq_HL-1_Mouse1.47954096
77ERG_21242973_ChIP-ChIP_JURKAT_Human1.47594186
78HIF1A_21447827_ChIP-Seq_MCF-7_Human1.45726552
79ASH2L_23239880_ChIP-Seq_MESCs_Mouse1.45368236
80CJUN_26792858_Chip-Seq_BT549_Human1.44608116
81HNF4A_19761587_ChIP-ChIP_CACO-2_Human1.43500121
82CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human1.43358183
83RACK7_27058665_Chip-Seq_MCF-7_Human1.42919740
84ELF5_23300383_ChIP-Seq_T47D_Human1.40801409
85FOXM1_26456572_ChIP-Seq_MCF-7_Human1.40402045
86KLF5_25053715_ChIP-Seq_YYC3_Human1.39800766
87E2F1_18555785_ChIP-Seq_MESCs_Mouse1.38480678
88AR_21909140_ChIP-Seq_LNCAP_Human1.37936707
89PIAS1_25552417_ChIP-Seq_VCAP_Human1.36698783
90FOXM1_23109430_ChIP-Seq_U2OS_Human1.35712713
91ELF3_26769127_Chip-Seq_PDAC-Cell_line_Human1.35090095
92TP63_23658742_ChIP-Seq_EP156T_Human1.34610106
93KLF4_26769127_Chip-Seq_PDAC-Cell_line_Human1.34539111
94XRN2_22483619_ChIP-Seq_HELA_Human1.34014866
95YY1_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.32081409
96ELK1_22589737_ChIP-Seq_MCF10A_Human1.30412727
97RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.30242240
98NELFA_20434984_ChIP-Seq_ESCs_Mouse1.29623108
99HOXB4_20404135_ChIP-ChIP_EML_Mouse1.29095876
100PPAR_26484153_Chip-Seq_NCI-H1993_Human1.27277296
101E2F7_22180533_ChIP-Seq_HELA_Human1.26665047
102THAP11_20581084_ChIP-Seq_MESCs_Mouse1.26038060
103POU3F2_20337985_ChIP-ChIP_501MEL_Human1.25438947
104FLI1_27457419_Chip-Seq_LIVER_Mouse1.24505409
105RARG_19884340_ChIP-ChIP_MEFs_Mouse1.24435759
106PDX1_19855005_ChIP-ChIP_MIN6_Mouse1.23422965
107GABP_19822575_ChIP-Seq_HepG2_Human1.22336062
108PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse1.21123626
109E2F1_21310950_ChIP-Seq_MCF-7_Human1.20932530
110POU5F1_18555785_ChIP-Seq_MESCs_Mouse1.20421730
111TP53_18474530_ChIP-ChIP_U2OS_Human1.18944613
112ESR1_17901129_ChIP-ChIP_LIVER_Mouse1.18461311
113TCF4_18268006_ChIP-ChIP_LS174T_Human1.17170619
114RXR_22108803_ChIP-Seq_LS180_Human1.16903489
115KDM5B_21448134_ChIP-Seq_MESCs_Mouse1.14946112
116ZNF274_21170338_ChIP-Seq_K562_Hela1.14811775
117EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human1.14697444
118BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human1.12535322
119NRF2_20460467_ChIP-Seq_MEFs_Mouse1.11825207
120NFE2L2_20460467_ChIP-Seq_MEFs_Mouse1.11825207
121CREB1_26743006_Chip-Seq_LNCaP-abl_Human1.10587611
122FOXA1_26769127_Chip-Seq_PDAC-Cell_line_Human1.09868672
123P300_19829295_ChIP-Seq_ESCs_Human1.09595546
124FOXA1_25552417_ChIP-Seq_VCAP_Human1.08647075
125POU5F1_18358816_ChIP-ChIP_MESCs_Mouse1.08541671
126MYBL2_22936984_ChIP-ChIP_MESCs_Mouse1.08434447
127ATF3_27146783_Chip-Seq_COLON_Human1.08393358
128CEBPB_23403033_ChIP-Seq_LIVER_Mouse1.06897160
129AR_20517297_ChIP-Seq_VCAP_Human1.06684566
130LXR_22158963_ChIP-Seq_LIVER_Mouse1.06274982
131* SUZ12_18555785_ChIP-Seq_MESCs_Mouse1.05731866
132ERG_20517297_ChIP-Seq_VCAP_Human1.04601965
133NR1I2_20693526_ChIP-Seq_LIVER_Mouse1.03606151
134FOXA1_25329375_ChIP-Seq_VCAP_Human1.03358370
135FOXA1_27270436_Chip-Seq_PROSTATE_Human1.03358370
136SALL4_18804426_ChIP-ChIP_XEN_Mouse1.03311511
137SALL1_21062744_ChIP-ChIP_HESCs_Human1.03221983
138GATA1_22025678_ChIP-Seq_K562_Human1.02605084
139PPARG_19300518_ChIP-PET_3T3-L1_Mouse0.99892814
140RCOR1_19997604_ChIP-ChIP_NEURONS_Mouse0.99330880
141CEBPD_23245923_ChIP-Seq_MEFs_Mouse0.99278832
142PCGF2_27294783_Chip-Seq_ESCs_Mouse0.99052991
143CHD7_19251738_ChIP-ChIP_MESCs_Mouse0.98215368
144TP63_19390658_ChIP-ChIP_HaCaT_Human0.97990211
145MYCN_18555785_ChIP-Seq_MESCs_Mouse0.97265837
146CTBP1_25329375_ChIP-Seq_LNCAP_Human0.97025873
147POU5F1_16153702_ChIP-ChIP_HESCs_Human0.97006065
148YY1_21170310_ChIP-Seq_MESCs_Mouse0.97004949
149GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse0.96380099
150TCF21_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human0.96363871
151ETS2_20176728_ChIP-ChIP_TROPHOBLAST_STEM_CELLS_Mouse0.95672441
152MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human0.95015022
153PPARA_22158963_ChIP-Seq_LIVER_Mouse0.93553212
154ESR1_22446102_ChIP-Seq_UTERUS_Mouse0.93338894
155BP1_19119308_ChIP-ChIP_Hs578T_Human0.93238939
156TAF15_26573619_Chip-Seq_HEK293_Human0.92078117
157ZFP57_27257070_Chip-Seq_ESCs_Mouse0.91688676
158SOX2_19829295_ChIP-Seq_ESCs_Human0.91503378
159NANOG_19829295_ChIP-Seq_ESCs_Human0.91503378
160NOTCH1_17114293_ChIP-ChIP_T-ALL_Human0.91150985
161CTNNB1_20460455_ChIP-Seq_HCT116_Human0.91024116
162AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human0.90852721
163BMI1_23680149_ChIP-Seq_NPCS_Mouse0.90522375
164IRF4_20064451_ChIP-Seq_CD4+T_Mouse0.90235502
165CBP_20019798_ChIP-Seq_JUKART_Human0.90235502
166UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human0.89860904
167ER_23166858_ChIP-Seq_MCF-7_Human0.88719282
168GATA2_21666600_ChIP-Seq_HMVEC_Human0.88561131
169TCF4_22108803_ChIP-Seq_LS180_Human0.87327978
170FOXO1_23066095_ChIP-Seq_LIVER_Mouse0.86803997
171EZH2_27294783_Chip-Seq_NPCs_Mouse0.86131600
172* SUZ12_18974828_ChIP-Seq_MESCs_Mouse0.86035167
173CHD1_26751641_Chip-Seq_LNCaP_Human0.84790965
174EKLF_21900194_ChIP-Seq_ERYTHROCYTE_Mouse0.84746615
175SUZ12_16625203_ChIP-ChIP_MESCs_Mouse0.84189682
176ZFP42_18358816_ChIP-ChIP_MESCs_Mouse0.83538324
177FOXA1_21572438_ChIP-Seq_LNCaP_Human0.83047176
178PKCTHETA_26484144_Chip-Seq_BREAST_Human0.82073896
179UBF1/2_26484160_Chip-Seq_HMECs_Human0.81458508
180TBX20_22080862_ChIP-Seq_HEART_Mouse0.80960062
181TBX20_22328084_ChIP-Seq_HEART_Mouse0.80960062
182FOXA2_19822575_ChIP-Seq_HepG2_Human0.80618916
183NANOG_16153702_ChIP-ChIP_HESCs_Human0.80518704
184CREB1_26743006_Chip-Seq_LNCaP_Human0.79874911
185SMAD3_21741376_ChIP-Seq_HESCs_Human0.79470684
186AR_21572438_ChIP-Seq_LNCaP_Human0.79068289
187ISL1_27105846_Chip-Seq_CPCs_Mouse0.78592078
188FOXA1_26743006_Chip-Seq_LNCaP-abl_Human0.78185433
189BMI1_19503595_ChIP-Seq_MEFsC_Mouse0.76695617
190* SUZ12_20075857_ChIP-Seq_MESCs_Mouse0.75946069
191STAT3_24763339_ChIP-Seq_IMN-ESCs_Mouse0.75864536

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0010234_abnormal_vibrissa_follicle6.61251564
2MP0002796_impaired_skin_barrier5.44383991
3MP0009379_abnormal_foot_pigmentation4.66202966
4MP0004782_abnormal_surfactant_physiolog4.14765672
5MP0003718_maternal_effect3.49909231
6MP0005275_abnormal_skin_tensile3.32923559
7MP0005501_abnormal_skin_physiology3.07489117
8MP0002098_abnormal_vibrissa_morphology2.84106895
9MP0005647_abnormal_sex_gland2.72968562
10MP0002166_altered_tumor_susceptibility2.71538387
11MP0003941_abnormal_skin_development2.70625635
12MP0003693_abnormal_embryo_hatching2.68559456
13MP0005310_abnormal_salivary_gland2.66580133
14MP0003300_gastrointestinal_ulcer2.61989140
15MP0003806_abnormal_nucleotide_metabolis2.53208165
16MP0010678_abnormal_skin_adnexa2.52530367
17MP0002132_abnormal_respiratory_system2.49959736
18MP0004043_abnormal_pH_regulation2.48053553
19MP0004957_abnormal_blastocyst_morpholog2.47243926
20MP0001188_hyperpigmentation2.40238702
21MP0010386_abnormal_urinary_bladder2.39256245
22MP0010094_abnormal_chromosome_stability2.34261886
23MP0000566_synostosis2.30898097
24MP0005451_abnormal_body_composition2.23404833
25MP0002060_abnormal_skin_morphology2.19382008
26MP0000537_abnormal_urethra_morphology2.16078024
27MP0000613_abnormal_salivary_gland2.13963426
28MP0000579_abnormal_nail_morphology2.11767916
29MP0008058_abnormal_DNA_repair2.11602130
30MP0001216_abnormal_epidermal_layer2.09602272
31MP0002009_preneoplasia2.09017878
32MP0004381_abnormal_hair_follicle2.02936355
33MP0002254_reproductive_system_inflammat2.00555941
34MP0002006_tumorigenesis1.94085057
35MP0003453_abnormal_keratinocyte_physiol1.92776744
36MP0000377_abnormal_hair_follicle1.87800490
37MP0004264_abnormal_extraembryonic_tissu1.86762046
38MP0010771_integument_phenotype1.84700571
39MP0001765_abnormal_ion_homeostasis1.82413394
40MP0001346_abnormal_lacrimal_gland1.82301412
41MP0009697_abnormal_copulation1.81890812
42MP0001958_emphysema1.81795321
43MP0002295_abnormal_pulmonary_circulatio1.81318344
44MP0000647_abnormal_sebaceous_gland1.80145285
45MP0000762_abnormal_tongue_morphology1.76670391
46MP0008057_abnormal_DNA_replication1.70305326
47MP0008004_abnormal_stomach_pH1.65692525
48MP0000383_abnormal_hair_follicle1.65643749
49MP0006292_abnormal_olfactory_placode1.64467861
50MP0006072_abnormal_retinal_apoptosis1.62920160
51MP0002095_abnormal_skin_pigmentation1.61757386
52MP0001177_atelectasis1.55073249
53MP0003077_abnormal_cell_cycle1.51542133
54MP0002160_abnormal_reproductive_system1.49448995
55MP0008875_abnormal_xenobiotic_pharmacok1.48883610
56MP0003705_abnormal_hypodermis_morpholog1.48031058
57MP0003566_abnormal_cell_adhesion1.45547604
58MP0002138_abnormal_hepatobiliary_system1.45355240
59MP0003111_abnormal_nucleus_morphology1.43341901
60MP0002277_abnormal_respiratory_mucosa1.39874941
61MP0006036_abnormal_mitochondrial_physio1.37945615
62MP0008877_abnormal_DNA_methylation1.37398565
63MP0004947_skin_inflammation1.36084851
64MP0002163_abnormal_gland_morphology1.32489198
65MP0005389_reproductive_system_phenotype1.32462822
66MP0001756_abnormal_urination1.32103818
67MP0002938_white_spotting1.30998275
68MP0003890_abnormal_embryonic-extraembry1.30510178
69MP0004885_abnormal_endolymph1.25767014
70MP0008995_early_reproductive_senescence1.24392625
71MP0000534_abnormal_ureter_morphology1.24227235
72MP0003186_abnormal_redox_activity1.22056235
73MP0005636_abnormal_mineral_homeostasis1.22036242
74MP0003011_delayed_dark_adaptation1.20522409
75MP0005174_abnormal_tail_pigmentation1.20245963
76MP0005367_renal/urinary_system_phenotyp1.17132039
77MP0000516_abnormal_urinary_system1.17132039
78MP0000627_abnormal_mammary_gland1.13093879
79MP0000427_abnormal_hair_cycle1.11119147
80MP0000467_abnormal_esophagus_morphology1.10947307
81MP0002210_abnormal_sex_determination1.09049672
82MP0005408_hypopigmentation1.04796663
83MP0001293_anophthalmia1.04783176
84MP0005395_other_phenotype1.04006294
85MP0001873_stomach_inflammation1.03461068
86MP0010352_gastrointestinal_tract_polyps1.03328019
87MP0002653_abnormal_ependyma_morphology0.99822518
88MP0010030_abnormal_orbit_morphology0.99132304
89MP0003315_abnormal_perineum_morphology0.96185386
90MP0001485_abnormal_pinna_reflex0.96171351
91MP0008872_abnormal_physiological_respon0.95998519
92MP0008932_abnormal_embryonic_tissue0.95964183
93MP0000569_abnormal_digit_pigmentation0.95774404
94MP0002133_abnormal_respiratory_system0.95740488
95MP0005388_respiratory_system_phenotype0.95740488
96MP0003786_premature_aging0.95472102
97MP0001764_abnormal_homeostasis0.95455757
98MP0002638_abnormal_pupillary_reflex0.93484072
99MP0005075_abnormal_melanosome_morpholog0.93361454
100MP0005646_abnormal_pituitary_gland0.93272963
101MP0005023_abnormal_wound_healing0.92741924
102MP0005379_endocrine/exocrine_gland_phen0.91926951
103MP0000653_abnormal_sex_gland0.91805907
104MP0001929_abnormal_gametogenesis0.89552017
105MP0000538_abnormal_urinary_bladder0.89236208
106MP0005220_abnormal_exocrine_pancreas0.89204774
107MP0001984_abnormal_olfaction0.89139362
108MP0003937_abnormal_limbs/digits/tail_de0.89079347
109MP0002136_abnormal_kidney_physiology0.88909173
110MP0009643_abnormal_urine_homeostasis0.88455829
111MP0000631_abnormal_neuroendocrine_gland0.87592969
112MP0005084_abnormal_gallbladder_morpholo0.86986801
113MP0009764_decreased_sensitivity_to0.86806296
114MP0008789_abnormal_olfactory_epithelium0.86679773
115MP0000372_irregular_coat_pigmentation0.86087214
116MP0001145_abnormal_male_reproductive0.85191032
117MP0000367_abnormal_coat/_hair0.84185574
118MP0008007_abnormal_cellular_replicative0.83213668
119MP0001191_abnormal_skin_condition0.82820379
120MP0009931_abnormal_skin_appearance0.82141261
121MP0003191_abnormal_cellular_cholesterol0.81353920
122MP0005058_abnormal_lysosome_morphology0.78614003
123MP0009384_cardiac_valve_regurgitation0.77627425
124MP0003950_abnormal_plasma_membrane0.77352347
125MP0003567_abnormal_fetal_cardiomyocyte0.77270669
126MP0005499_abnormal_olfactory_system0.75862915
127MP0005394_taste/olfaction_phenotype0.75862915
128MP0003195_calcinosis0.75618163
129MP0009780_abnormal_chondrocyte_physiolo0.75508648
130MP0006035_abnormal_mitochondrial_morpho0.73090646
131MP0002837_dystrophic_cardiac_calcinosis0.72401476
132MP0001286_abnormal_eye_development0.71435505
133MP0001919_abnormal_reproductive_system0.71220545
134MP0004215_abnormal_myocardial_fiber0.71105904
135MP0000470_abnormal_stomach_morphology0.70978947
136MP0004185_abnormal_adipocyte_glucose0.70030881
137MP0005253_abnormal_eye_physiology0.69827272
138MP0005076_abnormal_cell_differentiation0.69672135
139MP0001881_abnormal_mammary_gland0.69373186
140MP0000049_abnormal_middle_ear0.67859250
141MP0001119_abnormal_female_reproductive0.66653297
142MP0003136_yellow_coat_color0.66413091
143MP0002233_abnormal_nose_morphology0.66221989
144MP0008961_abnormal_basal_metabolism0.64337438
145MP0002234_abnormal_pharynx_morphology0.63757839
146MP0002111_abnormal_tail_morphology0.63658077
147MP0001697_abnormal_embryo_size0.63450310
148MP0003878_abnormal_ear_physiology0.61930516
149MP0005377_hearing/vestibular/ear_phenot0.61930516
150MP0009765_abnormal_xenobiotic_induced0.59545420
151MP0005166_decreased_susceptibility_to0.59426643
152MP0004272_abnormal_basement_membrane0.59288554
153MP0009250_abnormal_appendicular_skeleto0.58316491
154MP0005187_abnormal_penis_morphology0.56562472
155MP0003936_abnormal_reproductive_system0.56246497
156MP0002139_abnormal_hepatobiliary_system0.56208896
157MP0009053_abnormal_anal_canal0.55137019
158MP0003638_abnormal_response/metabolism_0.54069197
159MP0005083_abnormal_biliary_tract0.52768727
160MP0002877_abnormal_melanocyte_morpholog0.51430397
161MP0004019_abnormal_vitamin_homeostasis0.50269195
162MP0003183_abnormal_peptide_metabolism0.49693204
163MP0001664_abnormal_digestion0.49176099
164MP0001851_eye_inflammation0.47864662

Predicted human phenotypes

RankGene SetZ-score
1Abnormality of cochlea (HP:0000375)6.17837449
2Lip pit (HP:0100267)5.03882965
3Right ventricular cardiomyopathy (HP:0011663)4.91065125
4Interstitial pulmonary disease (HP:0006530)4.82787302
5Aplasia involving bones of the upper limbs (HP:0009823)4.73324333
6Aplasia of the phalanges of the hand (HP:0009802)4.73324333
7Aplasia involving bones of the extremities (HP:0009825)4.73324333
8Onycholysis (HP:0001806)4.65240768
9Morphological abnormality of the inner ear (HP:0011390)4.37675860
10Congenital ichthyosiform erythroderma (HP:0007431)3.97393069
11Increased IgE level (HP:0003212)3.84479407
12Woolly hair (HP:0002224)3.83804621
13Plantar hyperkeratosis (HP:0007556)3.73681777
14Methylmalonic acidemia (HP:0002912)3.63001076
15Macrocytic anemia (HP:0001972)3.56595033
16Acute necrotizing encephalopathy (HP:0006965)3.51614085
17Oral leukoplakia (HP:0002745)3.49727638
18Congenital nonbullous ichthyosiform erythroderma (HP:0007479)3.46382408
19Increased hepatocellular lipid droplets (HP:0006565)3.43731863
20Palmoplantar hyperkeratosis (HP:0000972)3.43616252
21Abnormal number of erythroid precursors (HP:0012131)3.43141253
22Hypotrichosis (HP:0001006)3.35731327
23Abnormality of cells of the erythroid lineage (HP:0012130)3.34038054
24Abnormality of nail color (HP:0100643)3.33770152
25Milia (HP:0001056)3.32685406
26Natal tooth (HP:0000695)3.25604074
273-Methylglutaconic aciduria (HP:0003535)3.21755415
28Palmar hyperkeratosis (HP:0010765)3.20691310
29Curly hair (HP:0002212)3.17795098
30Mitochondrial inheritance (HP:0001427)3.16677212
31Abnormal hemoglobin (HP:0011902)3.13888696
32Tubulointerstitial nephritis (HP:0001970)3.11993618
33Fibular aplasia (HP:0002990)3.10630462
34Hyperactive renin-angiotensin system (HP:0000841)3.06702074
35Lipid accumulation in hepatocytes (HP:0006561)3.00404510
36Abnormality of the 2nd finger (HP:0004100)3.00158758
37Progressive macrocephaly (HP:0004481)2.97288628
38Abnormality of the phalanges of the 2nd finger (HP:0009541)2.94899792
39Increased CSF lactate (HP:0002490)2.92373469
40Abnormal mitochondria in muscle tissue (HP:0008316)2.91725949
41Subcapsular cataract (HP:0000523)2.90833693
42Sparse eyelashes (HP:0000653)2.88675657
43Acute encephalopathy (HP:0006846)2.88211259
44Methylmalonic aciduria (HP:0012120)2.86603539
45Hypoplasia of the uterus (HP:0000013)2.84744566
46Ulnar bowing (HP:0003031)2.81477371
47Advanced eruption of teeth (HP:0006288)2.80318436
48Fragile nails (HP:0001808)2.78527191
49Abnormality of secondary sexual hair (HP:0009888)2.77405165
50Abnormality of the axillary hair (HP:0100134)2.77405165
51Pili torti (HP:0003777)2.67708481
52Renal Fanconi syndrome (HP:0001994)2.67415059
53Vacuolated lymphocytes (HP:0001922)2.66791806
54Abnormality of methionine metabolism (HP:0010901)2.65864948
55Corneal erosion (HP:0200020)2.64240380
56Tubulointerstitial fibrosis (HP:0005576)2.63881280
57Popliteal pterygium (HP:0009756)2.56218251
58Hypoplastic nipples (HP:0002557)2.55312957
59Reticulocytopenia (HP:0001896)2.54919898
60Potter facies (HP:0002009)2.54460107
61Facial shape deformation (HP:0011334)2.54460107
62Gout (HP:0001997)2.52483319
63Hepatic necrosis (HP:0002605)2.52190892
64Homocystinuria (HP:0002156)2.49368824
65Abnormality of homocysteine metabolism (HP:0010919)2.49368824
66Hyperkalemia (HP:0002153)2.49332935
67Abnormality of chloride homeostasis (HP:0011422)2.48798326
68Hypoplasia of dental enamel (HP:0006297)2.48631848
69Hepatocellular necrosis (HP:0001404)2.48268074
70Hypomagnesemia (HP:0002917)2.47654901
71Stenosis of the external auditory canal (HP:0000402)2.44500597
72Bifid scrotum (HP:0000048)2.43892760
73Megaloblastic anemia (HP:0001889)2.42693505
74Pallor (HP:0000980)2.40752872
75Stomach cancer (HP:0012126)2.39883260
76Decreased activity of mitochondrial respiratory chain (HP:0008972)2.38862805
77Abnormal activity of mitochondrial respiratory chain (HP:0011922)2.38862805
78Hypoplasia of the ulna (HP:0003022)2.35873015
79Asymmetry of the thorax (HP:0001555)2.33983511
80Hypoplastic labia majora (HP:0000059)2.33935919
81Abnormality of the middle phalanges of the toes (HP:0010183)2.32616794
82Parakeratosis (HP:0001036)2.32467321
83Hyporeflexia of lower limbs (HP:0002600)2.31427759
84Abnormality of aspartate family amino acid metabolism (HP:0010899)2.30706652
85Duplicated collecting system (HP:0000081)2.29530542
86Aplasia/Hypoplasia of the phalanges of the toes (HP:0010173)2.27055486
87Abnormality of midbrain morphology (HP:0002418)2.26666729
88Molar tooth sign on MRI (HP:0002419)2.26666729
89Chronic bronchitis (HP:0004469)2.25139822
90Cerebral edema (HP:0002181)2.23646868
91Widely patent fontanelles and sutures (HP:0004492)2.22120266
92Oligodactyly (hands) (HP:0001180)2.21282026
93Abnormality of the pons (HP:0007361)2.21280411
94Shawl scrotum (HP:0000049)2.20570882
95Increased serum lactate (HP:0002151)2.20320042
96Furrowed tongue (HP:0000221)2.19674185
97Exertional dyspnea (HP:0002875)2.18691630
98Tubulointerstitial abnormality (HP:0001969)2.18498908
99Aplastic anemia (HP:0001915)2.16132147
100Abnormality of the renal collecting system (HP:0004742)2.15173979
101Thoracolumbar scoliosis (HP:0002944)2.14400387
102Erythroderma (HP:0001019)2.13834537
103Exocrine pancreatic insufficiency (HP:0001738)2.13386846
104Renal salt wasting (HP:0000127)2.12517184
105Abnormality of urine glucose concentration (HP:0011016)2.10809831
106Glycosuria (HP:0003076)2.10809831
107Volvulus (HP:0002580)2.09652085
108Amniotic constriction ring (HP:0009775)2.09474964
109Abnormality of placental membranes (HP:0011409)2.09474964
110Abnormality of the labia majora (HP:0012881)2.07794933
111Laryngomalacia (HP:0001601)2.07588530
112Pancreatic cysts (HP:0001737)2.05138063
113Abnormality of serum amino acid levels (HP:0003112)2.04449368
114Hyperglycinuria (HP:0003108)2.03983050
115Hyperalaninemia (HP:0003348)2.03713870
116Abnormality of pyruvate family amino acid metabolism (HP:0010915)2.03713870
117Abnormality of alanine metabolism (HP:0010916)2.03713870
118Decreased activity of cytochrome C oxidase in muscle tissue (HP:0003688)2.02804381
119Abnormality of the vitamin B12 metabolism (HP:0004341)2.01413580
120Acanthosis nigricans (HP:0000956)2.00773650
121Abnormality of vitamin B metabolism (HP:0004340)2.00608259
122Hypoplasia of the pons (HP:0012110)2.00148768
123Aplasia/Hypoplasia of the scapulae (HP:0006713)1.99663622
124Hypoplastic scapulae (HP:0000882)1.99663622
125Sparse scalp hair (HP:0002209)1.99165204
126Polar cataract (HP:0010696)1.98206463
127Hypohidrosis (HP:0000966)1.98039820
128Short hallux (HP:0010109)1.97715691
129Brittle hair (HP:0002299)1.97693970
130Dehydration (HP:0001944)1.97017252
131Absent hair (HP:0002298)1.96851010
132Abnormality of renal resorption (HP:0011038)1.95732693
133Hypophosphatemic rickets (HP:0004912)1.93743264
134Lactic acidosis (HP:0003128)1.93519852
135Abnormality of magnesium homeostasis (HP:0004921)1.93498332
136Nail dystrophy (HP:0008404)1.92675162
137Type I transferrin isoform profile (HP:0003642)1.92510209
138Tachypnea (HP:0002789)1.91927748
139Bowed forearm bones (HP:0003956)1.91125149
140Bowing of the arm (HP:0006488)1.91125149
141Aplasia/Hypoplasia of the 1st metacarpal (HP:0010026)1.91046004
142Short 1st metacarpal (HP:0010034)1.91046004
143Conjunctival hamartoma (HP:0100780)1.90131548
144Bronchomalacia (HP:0002780)1.89870110
145Alopecia of scalp (HP:0002293)1.87904878
146Split foot (HP:0001839)1.86733730
147Thick nail (HP:0001805)1.86215758
148Erythema (HP:0010783)1.85693050
149Aplasia/hypoplasia of the uterus (HP:0008684)1.84614546
150Abnormality of renal excretion (HP:0011036)1.84220263
151Paralysis (HP:0003470)1.83104834
152Rectal prolapse (HP:0002035)1.82712776
153Abnormality of the gastric mucosa (HP:0004295)1.82619968
154Abnormality of the preputium (HP:0100587)1.82572021
155Oligodontia (HP:0000677)1.82388187
156Turricephaly (HP:0000262)1.82210001
157Abnormal blistering of the skin (HP:0008066)1.81321071
158Aplasia/Hypoplasia involving the sinuses (HP:0009120)1.80525170
159Aplasia/Hypoplasia of the hallux (HP:0008362)1.79978424
160Respiratory distress (HP:0002098)1.79533330
161Respiratory failure (HP:0002878)1.78962438
162Abnormal tarsal ossification (HP:0008369)1.77838354
163Median cleft lip (HP:0000161)1.77417292
164Congenital, generalized hypertrichosis (HP:0004540)1.77236843
165Azoospermia (HP:0000027)1.75138460
166Abnormality of chromosome stability (HP:0003220)1.75025282
167Large for gestational age (HP:0001520)1.73829439
168Abnormality of the renal cortex (HP:0011035)1.73328073
169Pancreatic fibrosis (HP:0100732)1.72947972
170Renal tubular dysfunction (HP:0000124)1.72289042
171Abnormal hair laboratory examination (HP:0003328)1.70332669
172Sensory axonal neuropathy (HP:0003390)1.70128916
173Generalized aminoaciduria (HP:0002909)1.70016992
174Lethargy (HP:0001254)1.69924804

Predicted kinase interactions (KEA)

RankGene SetZ-score
1MST46.76957383
2AKT34.67776325
3LATS14.45009817
4FRK3.80803360
5ERN13.69948966
6STK163.66414652
7TLK13.44425916
8BUB13.25691343
9MAPKAPK32.76008700
10SRPK12.75263060
11EIF2AK32.70489053
12MAP3K22.57273258
13EPHA22.53678695
14FER2.48826316
15STK392.47291501
16TAOK32.40856981
17EIF2AK12.32252860
18SIK12.23987785
19MAP3K32.10280617
20RPS6KB22.09171076
21PLK42.08409212
22CDC72.06707908
23BMPR1B2.04531860
24LRRK21.97939415
25MKNK21.92403154
26TNIK1.89597619
27VRK21.83090778
28TGFBR11.82237416
29TTK1.81844207
30MST1R1.79945437
31EEF2K1.79616232
32STK101.75147143
33WEE11.68086140
34VRK11.67367351
35FGFR21.46274629
36PNCK1.45642534
37PLK31.45182191
38MKNK11.41826139
39BRSK21.40414609
40WNK31.37399664
41LMTK21.36375967
42BCKDK1.35803309
43WNK41.34808666
44NUAK11.33462947
45PBK1.30802535
46MAP3K121.28433045
47EPHB21.28013445
48OXSR11.25678892
49PLK11.22528112
50STK38L1.22431236
51TRIM281.18380455
52MAP4K21.18372980
53TRPM71.14186840
54TSSK61.07683385
55NEK11.06549414
56EIF2AK21.04517585
57ACVR1B1.04320496
58PTK61.00192037
59MAPK150.99468952
60PASK0.98546912
61NME20.98256408
62TNK20.97877038
63TESK10.97416434
64MAP2K60.96365763
65MYLK0.95072847
66EPHB10.95014417
67PDK20.94554785
68LATS20.93582316
69MAP2K20.92174240
70PHKG20.91889993
71PHKG10.91889993
72GRK10.91318066
73PIK3CA0.89350245
74PIK3CG0.88591139
75PINK10.88451723
76STK240.88092589
77AURKB0.86515730
78PTK20.85563181
79TAF10.85444938
80IKBKB0.84972956
81MET0.81645935
82PRKCI0.78858720
83CDK80.74900427
84CDK30.74828554
85ADRBK20.73610240
86STK30.71677506
87FGFR10.71377365
88CHEK20.68598440
89RPS6KA20.67849992
90PDGFRB0.67426381
91NME10.67051302
92DMPK0.66885502
93PAK30.65370919
94TTN0.65153293
95TEC0.65032547
96NEK60.64819919
97CSNK1G10.64262654
98CCNB10.63834273
99DAPK20.59902566
100BMPR20.59179255
101BCR0.58924139
102AURKA0.57942885
103CDK60.57922188
104TAOK10.57526338
105ATM0.56440597
106CDK190.56370783
107CSNK2A20.55721526
108ROCK20.54036444
109ROCK10.53984345
110ERBB30.52565486
111PLK20.52435463
112CSNK2A10.52407006
113TRIB30.51563934
114EPHA30.48877262
115INSRR0.48850746
116CDK70.48481087
117ATR0.47746016
118PRKD10.47638945
119HIPK20.46986904
120CSNK1E0.44799920
121CHEK10.44067688
122JAK30.43993913
123MAP3K90.43472408
124CSNK1G30.43060965
125NLK0.42934924
126MAPKAPK50.42392099
127TGFBR20.41550473
128CHUK0.41339912
129FGFR30.40347894
130ERBB20.40127444
131NEK20.39521376
132PRKCE0.38298166
133CSNK1G20.36273039
134CSNK1A10.35521816
135ADRBK10.35029525
136RPS6KC10.34234622
137RPS6KL10.34234622
138STK380.33676385
139PRKCG0.32787788
140MAP3K10.32752908
141CSNK1A1L0.31319668
142SCYL20.30912008
143JAK20.30901176
144ILK0.30860320
145PDGFRA0.30711441
146MAP2K30.29444244
147WNK10.29196995
148JAK10.28914362
149GSK3A0.28176427
150RPS6KA10.27809656
151MAP3K70.27543293
152TIE10.27287143
153MATK0.27254291
154CDK90.26852781
155PRKCQ0.25155847
156LIMK10.24919092
157CLK10.23958051
158RPS6KA60.23044912
159MAPKAPK20.22975276
160GRK70.22001522
161EGFR0.19742972
162MAP2K10.19728554
163PDPK10.19598366
164PRKG10.19363310
165CDC42BPA0.18291715
166FGFR40.18097583
167NEK90.17192242
168PDK30.16976917
169PDK40.16976917
170ZAK0.16749276
171SGK30.16354227

Predicted pathways (KEGG)

RankGene SetZ-score
1Ribosome_Homo sapiens_hsa030105.41401172
2* Oxidative phosphorylation_Homo sapiens_hsa001904.03063327
3Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006033.86576667
4Sulfur metabolism_Homo sapiens_hsa009203.58865089
5Proteasome_Homo sapiens_hsa030503.53385025
6Parkinsons disease_Homo sapiens_hsa050123.23731162
7Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030083.09326730
8RNA polymerase_Homo sapiens_hsa030202.87368745
9Homologous recombination_Homo sapiens_hsa034402.75573604
10Pentose and glucuronate interconversions_Homo sapiens_hsa000402.65628869
11Protein processing in endoplasmic reticulum_Homo sapiens_hsa041412.62538882
12Basal transcription factors_Homo sapiens_hsa030222.43089370
13Huntingtons disease_Homo sapiens_hsa050162.36551739
14Mismatch repair_Homo sapiens_hsa034302.31435813
15Sphingolipid metabolism_Homo sapiens_hsa006002.17943861
16Ascorbate and aldarate metabolism_Homo sapiens_hsa000532.17718231
17Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006012.10198455
18Alzheimers disease_Homo sapiens_hsa050102.08106801
19Tight junction_Homo sapiens_hsa045302.07612069
20Nucleotide excision repair_Homo sapiens_hsa034201.96597214
21Spliceosome_Homo sapiens_hsa030401.94894233
22RNA degradation_Homo sapiens_hsa030181.90024092
23Drug metabolism - cytochrome P450_Homo sapiens_hsa009821.89463477
24Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049321.89182241
25DNA replication_Homo sapiens_hsa030301.84134014
26Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049601.82587835
27Adherens junction_Homo sapiens_hsa045201.82181625
28Fanconi anemia pathway_Homo sapiens_hsa034601.80859332
29RNA transport_Homo sapiens_hsa030131.79958991
30Mineral absorption_Homo sapiens_hsa049781.75517204
31Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009801.73058442
32Protein export_Homo sapiens_hsa030601.72699935
33One carbon pool by folate_Homo sapiens_hsa006701.67509291
34Other glycan degradation_Homo sapiens_hsa005111.66961283
35Renin-angiotensin system_Homo sapiens_hsa046141.58435857
36Prostate cancer_Homo sapiens_hsa052151.57397865
37Base excision repair_Homo sapiens_hsa034101.54300369
38* Vibrio cholerae infection_Homo sapiens_hsa051101.49845956
39Bladder cancer_Homo sapiens_hsa052191.47244411
40Fatty acid biosynthesis_Homo sapiens_hsa000611.44383835
41Hippo signaling pathway_Homo sapiens_hsa043901.43203191
42ECM-receptor interaction_Homo sapiens_hsa045121.42753389
43Vitamin digestion and absorption_Homo sapiens_hsa049771.41328713
44Chemical carcinogenesis_Homo sapiens_hsa052041.40427699
45Endometrial cancer_Homo sapiens_hsa052131.28044864
46Leukocyte transendothelial migration_Homo sapiens_hsa046701.26251210
47ABC transporters_Homo sapiens_hsa020101.25871423
48Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005631.24208706
49alpha-Linolenic acid metabolism_Homo sapiens_hsa005921.18854181
50Cardiac muscle contraction_Homo sapiens_hsa042601.18748528
51Cytosolic DNA-sensing pathway_Homo sapiens_hsa046231.17198207
52Lysosome_Homo sapiens_hsa041421.16787102
53Gastric acid secretion_Homo sapiens_hsa049711.15105153
54Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001301.13911709
55Folate biosynthesis_Homo sapiens_hsa007901.13314534
56Pyrimidine metabolism_Homo sapiens_hsa002401.12944728
57Pathogenic Escherichia coli infection_Homo sapiens_hsa051301.12613446
58Arachidonic acid metabolism_Homo sapiens_hsa005901.12492890
59Maturity onset diabetes of the young_Homo sapiens_hsa049501.10290149
60Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa009701.09999013
61N-Glycan biosynthesis_Homo sapiens_hsa005101.08071168
62Cyanoamino acid metabolism_Homo sapiens_hsa004601.06055398
63Amoebiasis_Homo sapiens_hsa051461.05159885
64Hepatitis C_Homo sapiens_hsa051601.04898650
65Linoleic acid metabolism_Homo sapiens_hsa005911.03637596
66Cell cycle_Homo sapiens_hsa041101.03507549
67Regulation of lipolysis in adipocytes_Homo sapiens_hsa049231.01334923
68Phototransduction_Homo sapiens_hsa047440.97299997
69Non-homologous end-joining_Homo sapiens_hsa034500.97142661
70beta-Alanine metabolism_Homo sapiens_hsa004100.94603027
71Glutathione metabolism_Homo sapiens_hsa004800.92876832
72Protein digestion and absorption_Homo sapiens_hsa049740.91004502
73Sulfur relay system_Homo sapiens_hsa041220.89890368
74TGF-beta signaling pathway_Homo sapiens_hsa043500.89420679
75Taurine and hypotaurine metabolism_Homo sapiens_hsa004300.89314285
76Purine metabolism_Homo sapiens_hsa002300.88976998
77Focal adhesion_Homo sapiens_hsa045100.88013582
78Small cell lung cancer_Homo sapiens_hsa052220.87614563
79Regulation of autophagy_Homo sapiens_hsa041400.87270427
80Renin secretion_Homo sapiens_hsa049240.86583966
81Terpenoid backbone biosynthesis_Homo sapiens_hsa009000.85479762
82AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa049330.84784766
83ErbB signaling pathway_Homo sapiens_hsa040120.84679552
84Selenocompound metabolism_Homo sapiens_hsa004500.84501947
85Histidine metabolism_Homo sapiens_hsa003400.83304155
86Cysteine and methionine metabolism_Homo sapiens_hsa002700.83270926
87Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.82380029
88Synthesis and degradation of ketone bodies_Homo sapiens_hsa000720.81282311
89p53 signaling pathway_Homo sapiens_hsa041150.80970389
90Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006300.79873205
91Thyroid hormone synthesis_Homo sapiens_hsa049180.79579324
92Melanoma_Homo sapiens_hsa052180.77583288
93Steroid biosynthesis_Homo sapiens_hsa001000.76655928
94* Collecting duct acid secretion_Homo sapiens_hsa049660.75840685
95Fructose and mannose metabolism_Homo sapiens_hsa000510.73539826
96Retinol metabolism_Homo sapiens_hsa008300.72534846
97Intestinal immune network for IgA production_Homo sapiens_hsa046720.70754336
98Pyruvate metabolism_Homo sapiens_hsa006200.69815525
99Valine, leucine and isoleucine degradation_Homo sapiens_hsa002800.69232315
100Non-small cell lung cancer_Homo sapiens_hsa052230.68682155
101Wnt signaling pathway_Homo sapiens_hsa043100.68673024
102Ubiquitin mediated proteolysis_Homo sapiens_hsa041200.68542709
103Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa045500.68379826
104Ether lipid metabolism_Homo sapiens_hsa005650.68357632
105Thyroid cancer_Homo sapiens_hsa052160.68281853
106Proteoglycans in cancer_Homo sapiens_hsa052050.68056252
107Melanogenesis_Homo sapiens_hsa049160.67401974
108Oocyte meiosis_Homo sapiens_hsa041140.67063982
109Circadian rhythm_Homo sapiens_hsa047100.66034785
110* Metabolic pathways_Homo sapiens_hsa011000.65645715
111Asthma_Homo sapiens_hsa053100.63598387
112Starch and sucrose metabolism_Homo sapiens_hsa005000.63385316
113Glycerolipid metabolism_Homo sapiens_hsa005610.62837976
114mRNA surveillance pathway_Homo sapiens_hsa030150.62828540
115Inositol phosphate metabolism_Homo sapiens_hsa005620.62274404
116Insulin resistance_Homo sapiens_hsa049310.62059132
117Propanoate metabolism_Homo sapiens_hsa006400.61282754
118Fatty acid degradation_Homo sapiens_hsa000710.60124747
119Caffeine metabolism_Homo sapiens_hsa002320.59435183
120Glioma_Homo sapiens_hsa052140.59031392
121Drug metabolism - other enzymes_Homo sapiens_hsa009830.57622417
122Basal cell carcinoma_Homo sapiens_hsa052170.56722565
123Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.56685440
124Phosphatidylinositol signaling system_Homo sapiens_hsa040700.56104174
125Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005200.55380769
126Salivary secretion_Homo sapiens_hsa049700.54782564
127Estrogen signaling pathway_Homo sapiens_hsa049150.53254588
128Tryptophan metabolism_Homo sapiens_hsa003800.53040804
129Vascular smooth muscle contraction_Homo sapiens_hsa042700.52495687
130Pathways in cancer_Homo sapiens_hsa052000.51944565
131Pancreatic secretion_Homo sapiens_hsa049720.51192362
132Taste transduction_Homo sapiens_hsa047420.50542625
133Pantothenate and CoA biosynthesis_Homo sapiens_hsa007700.49326780
134Ovarian steroidogenesis_Homo sapiens_hsa049130.48645889
135Graft-versus-host disease_Homo sapiens_hsa053320.46950342
136Fatty acid elongation_Homo sapiens_hsa000620.46484648
137Acute myeloid leukemia_Homo sapiens_hsa052210.45344502
138FoxO signaling pathway_Homo sapiens_hsa040680.45306142
139VEGF signaling pathway_Homo sapiens_hsa043700.43710494
140Sphingolipid signaling pathway_Homo sapiens_hsa040710.43040907
141Pancreatic cancer_Homo sapiens_hsa052120.42170674
142Choline metabolism in cancer_Homo sapiens_hsa052310.41997159
143Steroid hormone biosynthesis_Homo sapiens_hsa001400.41125154
144Vasopressin-regulated water reabsorption_Homo sapiens_hsa049620.41052500
145Gap junction_Homo sapiens_hsa045400.41013995
146Peroxisome_Homo sapiens_hsa041460.40883497
147Neuroactive ligand-receptor interaction_Homo sapiens_hsa040800.40525215
148* Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051200.40103619
149* Rheumatoid arthritis_Homo sapiens_hsa053230.40090917
150Endocytosis_Homo sapiens_hsa041440.38607523
151Adipocytokine signaling pathway_Homo sapiens_hsa049200.38318282
152Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.37944208
153Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008600.36747441
154Dorso-ventral axis formation_Homo sapiens_hsa043200.35232270
155Prolactin signaling pathway_Homo sapiens_hsa049170.35103369
156Epstein-Barr virus infection_Homo sapiens_hsa051690.34905313
157Glycerophospholipid metabolism_Homo sapiens_hsa005640.34330715
158Antigen processing and presentation_Homo sapiens_hsa046120.28409542
159Glycine, serine and threonine metabolism_Homo sapiens_hsa002600.25294641
160Hedgehog signaling pathway_Homo sapiens_hsa043400.24222057
161Inflammatory bowel disease (IBD)_Homo sapiens_hsa053210.19846178
162Allograft rejection_Homo sapiens_hsa053300.19739128
163Nitrogen metabolism_Homo sapiens_hsa009100.18472516
164Type I diabetes mellitus_Homo sapiens_hsa049400.18047910
165NOD-like receptor signaling pathway_Homo sapiens_hsa046210.16598260
166Cytokine-cytokine receptor interaction_Homo sapiens_hsa040600.16573285
167Progesterone-mediated oocyte maturation_Homo sapiens_hsa049140.15096566
168Arginine and proline metabolism_Homo sapiens_hsa003300.13938306

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