COL6A5

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





Description: This gene encodes a member of the collagen superfamily of proteins. The encoded protein contains multiple von Willebrand factor A-like domains and may interact with the alpha 1 and alpha 2 chains of collagen VI to form the complete collagen VI trimer. Polymorphisms in this gene may be linked to dermal phenotypes, such as eczema. Alternative splicing results in multiple transcript variants. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1nuclear pore complex assembly (GO:0051292)7.78533903
2one-carbon compound transport (GO:0019755)7.00647699
3low-density lipoprotein particle clearance (GO:0034383)6.85693578
4nuclear pore organization (GO:0006999)6.77228733
5gas transport (GO:0015669)6.37517205
6complement activation, alternative pathway (GO:0006957)6.32231143
7antigen processing and presentation of endogenous peptide antigen (GO:0002483)6.02491493
8antigen processing and presentation of endogenous peptide antigen via MHC class I (GO:0019885)6.02491493
9triglyceride catabolic process (GO:0019433)5.74056845
10pore complex assembly (GO:0046931)5.60611282
11synapsis (GO:0007129)5.56954342
12antigen processing and presentation of endogenous antigen (GO:0019883)5.48165299
13protein heterotrimerization (GO:0070208)5.34322668
14neutral lipid catabolic process (GO:0046461)5.21015601
15acylglycerol catabolic process (GO:0046464)5.21015601
16antigen processing and presentation via MHC class Ib (GO:0002475)5.20159633
17regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902547)5.10870597
18definitive hemopoiesis (GO:0060216)5.09839464
19centriole replication (GO:0007099)4.97248654
20establishment of skin barrier (GO:0061436)4.93094978
21brown fat cell differentiation (GO:0050873)4.87302169
22protoporphyrinogen IX metabolic process (GO:0046501)4.80788808
23erythrocyte development (GO:0048821)4.69514209
24regulation of vascular endothelial growth factor signaling pathway (GO:1900746)4.68082608
25white fat cell differentiation (GO:0050872)4.61884004
26DNA packaging (GO:0006323)4.61520661
27chromosome condensation (GO:0030261)4.53521349
28valine metabolic process (GO:0006573)4.47326328
29regulation of RNA export from nucleus (GO:0046831)4.36381526
30fatty acid transmembrane transport (GO:1902001)4.30985482
31DNA methylation involved in gamete generation (GO:0043046)4.30278010
32resolution of meiotic recombination intermediates (GO:0000712)4.28847479
33DNA replication checkpoint (GO:0000076)4.24713142
34centriole assembly (GO:0098534)4.21747021
35DNA topological change (GO:0006265)4.21329884
36regulation of centriole replication (GO:0046599)4.19000464
37oxygen transport (GO:0015671)4.18166886
38ovulation from ovarian follicle (GO:0001542)4.16588805
39microtubule polymerization or depolymerization (GO:0031109)4.14391673
40regulation of antigen processing and presentation of peptide antigen (GO:0002583)4.12739420
41regulation of complement activation (GO:0030449)4.11209665
42positive regulation of glomerulus development (GO:0090193)4.09452994
43response to parathyroid hormone (GO:0071107)4.07832901
44regulation of histone H3-K4 methylation (GO:0051569)4.05105240
45response to dietary excess (GO:0002021)4.05089499
46negative regulation of macrophage derived foam cell differentiation (GO:0010745)4.04668967
47regulation of acrosome reaction (GO:0060046)4.02076405
48fusion of sperm to egg plasma membrane (GO:0007342)3.98819168
49response to vitamin A (GO:0033189)3.98288940
50glycerolipid catabolic process (GO:0046503)3.97251937
51protoporphyrinogen IX biosynthetic process (GO:0006782)3.97166414
52regulation of sequestering of triglyceride (GO:0010889)3.96824589
53establishment of protein localization to Golgi (GO:0072600)3.96207859
54positive regulation of fatty acid oxidation (GO:0046321)3.94250141
55protein targeting to Golgi (GO:0000042)3.93100506
56regulation of water loss via skin (GO:0033561)3.92792270
57alpha-linolenic acid metabolic process (GO:0036109)3.92524182
58microtubule depolymerization (GO:0007019)3.91144323
59regulation of histone H3-K9 methylation (GO:0051570)3.91046914
60diterpenoid biosynthetic process (GO:0016102)3.88499669
61mitotic nuclear envelope disassembly (GO:0007077)3.85843530
62vitamin A metabolic process (GO:0006776)3.84100497
63sperm motility (GO:0030317)3.83294733
64carnitine shuttle (GO:0006853)3.83100887
65regulation of protein activation cascade (GO:2000257)3.82424204
66detection of chemical stimulus involved in sensory perception of smell (GO:0050911)3.81769225
67positive regulation of fatty acid beta-oxidation (GO:0032000)3.79865058
68ovulation (GO:0030728)3.76689315
69homocysteine metabolic process (GO:0050667)3.72451149
70glomerular filtration (GO:0003094)3.70678585
71positive regulation of glucose import (GO:0046326)3.68484058
72nuclear envelope disassembly (GO:0051081)3.66630247
73membrane disassembly (GO:0030397)3.66630247
74retrograde transport, vesicle recycling within Golgi (GO:0000301)3.63041550
75regulation of translational fidelity (GO:0006450)3.62493702
76meiotic chromosome segregation (GO:0045132)3.61246867
77growth hormone receptor signaling pathway (GO:0060396)3.61026929
78regulation of cholesterol storage (GO:0010885)3.60879578
79regulation of histone H3-K27 methylation (GO:0061085)3.60406017
80surfactant homeostasis (GO:0043129)3.59475838
81biotin metabolic process (GO:0006768)3.58421209
82sensory perception of smell (GO:0007608)3.57911531
83bundle of His cell to Purkinje myocyte communication (GO:0086069)3.54656958
84transcytosis (GO:0045056)3.52547304
85spermatid nucleus differentiation (GO:0007289)3.52384764
86rRNA methylation (GO:0031167)3.52068180
87positive regulation of cellular response to insulin stimulus (GO:1900078)3.45447325
88collagen fibril organization (GO:0030199)3.45295871
89triglyceride biosynthetic process (GO:0019432)3.43529158
90midgut development (GO:0007494)3.43118481
91renal filtration (GO:0097205)3.41924700
92chromosome organization involved in meiosis (GO:0070192)3.41039946
93negative regulation of histone methylation (GO:0031061)3.40014452
94positive regulation of fatty acid metabolic process (GO:0045923)3.39895347
95negative regulation of erythrocyte differentiation (GO:0045647)3.39463170
96lipid particle organization (GO:0034389)3.38116295
97neutral lipid biosynthetic process (GO:0046460)3.38001953
98acylglycerol biosynthetic process (GO:0046463)3.38001953
99regulation of nucleobase-containing compound transport (GO:0032239)3.37701015
100fibroblast migration (GO:0010761)3.35827574
101granulocyte differentiation (GO:0030851)3.33988861
102sulfur amino acid catabolic process (GO:0000098)3.33685019
103carnitine transmembrane transport (GO:1902603)3.31919282
104positive regulation of glycogen biosynthetic process (GO:0045725)3.31323353
105negative regulation of tumor necrosis factor-mediated signaling pathway (GO:0010804)3.28446016
106negative regulation of retinoic acid receptor signaling pathway (GO:0048387)3.28404359
107fatty acid homeostasis (GO:0055089)3.26078673
108regulation of cAMP-dependent protein kinase activity (GO:2000479)3.25258324
109face development (GO:0060324)3.24807291
110erythrocyte maturation (GO:0043249)3.24744070
111DNA synthesis involved in DNA repair (GO:0000731)3.24029387
112desmosome organization (GO:0002934)3.23205258
113apoptotic cell clearance (GO:0043277)3.22527605
114male meiosis (GO:0007140)3.22288215
115negative regulation of protein autophosphorylation (GO:0031953)3.20891729
116retina vasculature morphogenesis in camera-type eye (GO:0061299)3.20229059
117amino-acid betaine transport (GO:0015838)3.17391039
118carnitine transport (GO:0015879)3.17391039
119triglyceride metabolic process (GO:0006641)3.16529610
120male meiosis I (GO:0007141)3.16333210
121positive regulation of glucose transport (GO:0010828)3.15670684
122regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045714)3.14999220
123acrosome reaction (GO:0007340)3.14213534
124cytolysis (GO:0019835)3.13421676
125cellular response to growth hormone stimulus (GO:0071378)3.10753000
126extracellular matrix assembly (GO:0085029)3.10079976
127positive regulation of glycolytic process (GO:0045821)3.07177724
128plasma membrane fusion (GO:0045026)3.06808416
129positive regulation of sterol transport (GO:0032373)3.05423430
130positive regulation of cholesterol transport (GO:0032376)3.05423430
131binding of sperm to zona pellucida (GO:0007339)3.04701944
132positive regulation of protein import into nucleus, translocation (GO:0033160)3.02781739
133mitotic G2/M transition checkpoint (GO:0044818)3.02703381
134fatty acid beta-oxidation (GO:0006635)3.02578152
135DNA conformation change (GO:0071103)3.02272339
136hypotonic response (GO:0006971)3.02144071
137acylglycerol metabolic process (GO:0006639)3.01907285
138positive regulation of insulin receptor signaling pathway (GO:0046628)3.01577830
139extracellular fibril organization (GO:0043206)2.99205252
140sperm-egg recognition (GO:0035036)2.98994770
141neutral lipid metabolic process (GO:0006638)2.96777253
142insulin-like growth factor receptor signaling pathway (GO:0048009)2.96022723
143CDP-diacylglycerol biosynthetic process (GO:0016024)2.95990808
144lipid storage (GO:0019915)2.94106545
145anterior/posterior axis specification, embryo (GO:0008595)2.93476551
146keratinocyte proliferation (GO:0043616)2.93416056
147terpenoid biosynthetic process (GO:0016114)2.93347145
148plasma lipoprotein particle clearance (GO:0034381)2.93158692
149regulation of meiosis I (GO:0060631)2.92849089
150keratinization (GO:0031424)2.90753919
151regulation of histone methylation (GO:0031060)2.90724787
152sperm capacitation (GO:0048240)2.90273070
153negative regulation of metanephros development (GO:0072217)2.90101601
154intracellular lipid transport (GO:0032365)2.89247800
155cellular response to nitric oxide (GO:0071732)2.88979526
156DNA replication initiation (GO:0006270)2.88173834
157regulation of epithelial cell differentiation involved in kidney development (GO:2000696)2.86758860
158positive regulation of cholesterol efflux (GO:0010875)2.86453071
159negative regulation of amino acid transport (GO:0051956)2.86259930
160oxaloacetate metabolic process (GO:0006107)2.85054885
161positive regulation of histone methylation (GO:0031062)2.83009749
162mitotic G2 DNA damage checkpoint (GO:0007095)2.82965355
163chemical homeostasis within a tissue (GO:0048875)2.82897412
164regulation of centrosome cycle (GO:0046605)2.81126564
165regulation of fatty acid oxidation (GO:0046320)2.80490154
166intra-S DNA damage checkpoint (GO:0031573)2.80436512
167spermatid development (GO:0007286)2.80080035
168regulation of macrophage derived foam cell differentiation (GO:0010743)2.80036269
169regulation of fatty acid beta-oxidation (GO:0031998)2.79139523
170nucleus organization (GO:0006997)2.79021318
171regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)2.77732869
172response to thyroid hormone (GO:0097066)2.77549743
173positive regulation of osteoblast proliferation (GO:0033690)2.77301790
174response to folic acid (GO:0051593)2.76918403
175positive regulation of glycogen metabolic process (GO:0070875)2.76364984
176multicellular organismal water homeostasis (GO:0050891)2.76137743
177cellular sodium ion homeostasis (GO:0006883)2.75474902
178* multicellular organismal macromolecule metabolic process (GO:0044259)2.74493293
179cellular response to thyroid hormone stimulus (GO:0097067)2.74295859
180* multicellular organismal metabolic process (GO:0044236)2.74055738
181sexual reproduction (GO:0019953)2.73485910
182cellular response to vitamin (GO:0071295)2.73105414
183porphyrin-containing compound biosynthetic process (GO:0006779)2.72716353
184UDP-N-acetylglucosamine metabolic process (GO:0006047)2.72435862
185regulation of calcineurin-NFAT signaling cascade (GO:0070884)2.72109165
186fatty acid oxidation (GO:0019395)2.72076334
187regulation of retinoic acid receptor signaling pathway (GO:0048385)2.70455459
188protein localization to Golgi apparatus (GO:0034067)2.68874894
189cellular response to lithium ion (GO:0071285)2.67802774
190angiotensin maturation (GO:0002003)2.67207303
191regulation of guanylate cyclase activity (GO:0031282)2.66505458
192genitalia morphogenesis (GO:0035112)2.66429683
193retinoic acid receptor signaling pathway (GO:0048384)2.65670011
194lipid oxidation (GO:0034440)2.65612421
195rRNA modification (GO:0000154)2.65440317
196* collagen metabolic process (GO:0032963)2.65432272
197heme biosynthetic process (GO:0006783)2.63815939
198cilium or flagellum-dependent cell motility (GO:0001539)2.63577447
199regulation of centrosome duplication (GO:0010824)2.63549866

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1E2F7_22180533_ChIP-Seq_HELA_Human7.73444442
2PPARG_19300518_ChIP-PET_3T3-L1_Mouse7.03132578
3GATA1_19941826_ChIP-Seq_K562_Human4.64944380
4GATA1_22025678_ChIP-Seq_K562_Human4.12199951
5VDR_22108803_ChIP-Seq_LS180_Human3.71011348
6TRIM28_21343339_ChIP-Seq_HEK293_Human3.66817473
7CLOCK_20551151_ChIP-Seq_293T_Human3.60130207
8GATA2_19941826_ChIP-Seq_K562_Human3.46219341
9STAT3_22323479_ChIP-Seq_MACROPHAGE_Mouse3.03418901
10ESR1_21235772_ChIP-Seq_MCF-7_Human2.88640478
11NCOR1_26117541_ChIP-Seq_K562_Human2.87712579
12TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse2.72895849
13E2F4_17652178_ChIP-ChIP_JURKAT_Human2.63575017
14SCL_19346495_ChIP-Seq_HPC-7_Human2.46200754
15LXR_22158963_ChIP-Seq_LIVER_Mouse2.42226232
16ESR1_17901129_ChIP-ChIP_LIVER_Mouse2.38799193
17* ESR1_22446102_ChIP-Seq_UTERUS_Mouse2.28431203
18RXR_22158963_ChIP-Seq_LIVER_Mouse2.20961140
19ESR2_21235772_ChIP-Seq_MCF-7_Human2.19698882
20PHF8_20622853_ChIP-Seq_HELA_Human2.15522904
21RBPJ_21746931_ChIP-Seq_IB4_Human2.15191193
22ETV1_20927104_ChIP-Seq_GIST48_Human2.14383772
23CDX2_21074721_ChIP-Seq_CACO-2_Mouse2.11730375
24MYCN_21190229_ChIP-Seq_SHEP-21N_Human2.10528897
25BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human2.10337294
26HNFA_21074721_ChIP-Seq_CACO-2_Human2.08885466
27SOX9_22984422_ChIP-ChIP_TESTIS_Rat2.06703741
28RARG_19884340_ChIP-ChIP_MEFs_Mouse2.06397665
29GATA6_21074721_ChIP-Seq_CACO-2_Mouse2.04311074
30PCGF4_22325352_ChIP-Seq_293T-Rex_Human2.04083371
31POU3F2_20337985_ChIP-ChIP_501MEL_Human2.00051898
32NFYB_21822215_ChIP-Seq_K562_Human1.99290435
33GATA6_21074721_ChIP-Seq_CACO-2_Human1.99228305
34BP1_19119308_ChIP-ChIP_Hs578T_Human1.99080500
35AR_21909140_ChIP-Seq_LNCAP_Human1.99035121
36NR1I2_20693526_ChIP-Seq_LIVER_Mouse1.97036120
37CBX2_22325352_ChIP-Seq_293T-Rex_Human1.96824322
38PPARG_20176806_ChIP-Seq_3T3-L1_Mouse1.95158274
39FUS_26573619_Chip-Seq_HEK293_Human1.90760634
40FOXM1_23109430_ChIP-Seq_U2OS_Human1.81880556
41EP300_21415370_ChIP-Seq_HL-1_Mouse1.80476862
42KDM5B_21448134_ChIP-Seq_MESCs_Mouse1.79742565
43PPAR_26484153_Chip-Seq_NCI-H1993_Human1.78961216
44NFYA_21822215_ChIP-Seq_K562_Human1.77340863
45PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse1.73233770
46CHD7_19251738_ChIP-ChIP_MESCs_Mouse1.71128368
47PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse1.67395183
48TBL1_22424771_ChIP-Seq_293T_Human1.64915360
49SPI1_23127762_ChIP-Seq_K562_Human1.63893441
50PPARA_22158963_ChIP-Seq_LIVER_Mouse1.61275511
51CDX2_19796622_ChIP-Seq_MESCs_Mouse1.61161201
52KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human1.60557692
53CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human1.59610665
54E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse1.59052985
55CJUN_26792858_Chip-Seq_BT549_Human1.55830043
56TCF21_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human1.55484339
57ER_23166858_ChIP-Seq_MCF-7_Human1.55365155
58ZNF217_24962896_ChIP-Seq_MCF-7_Human1.55289334
59FOXO3_23340844_ChIP-Seq_DLD1_Human1.49508838
60TP63_17297297_ChIP-ChIP_HaCaT_Human1.44844255
61GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.44633775
62CEBPB_21427703_ChIP-Seq_3T3-L1_Mouse1.43140321
63CEBPD_21427703_ChIP-Seq_3T3-L1_Mouse1.41782445
64MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse1.41687918
65SALL4_22934838_ChIP-ChIP_CD34+_Human1.40679418
66ERA_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human1.37993519
67GATA1_21571218_ChIP-Seq_MEGAKARYOCYTES_Human1.37063070
68PRDM5_23873026_ChIP-Seq_MEFs_Mouse1.35967259
69KLF1_20508144_ChIP-Seq_FETAL-LIVER-ERYTHROID_Mouse1.34471615
70PIAS1_25552417_ChIP-Seq_VCAP_Human1.33512072
71NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse1.32155159
72TCF4_18268006_ChIP-ChIP_LS174T_Human1.27277273
73DROSHA_22980978_ChIP-Seq_HELA_Human1.27088090
74SOX2_20726797_ChIP-Seq_SW620_Human1.26609264
75FOXO1_23066095_ChIP-Seq_LIVER_Mouse1.25155031
76EZH2_18974828_ChIP-Seq_MESCs_Mouse1.24582009
77RNF2_18974828_ChIP-Seq_MESCs_Mouse1.24582009
78PPARG_20887899_ChIP-Seq_3T3-L1_Mouse1.23798815
79SMAD4_21741376_ChIP-Seq_EPCs_Human1.22483169
80CTNNB1_20460455_ChIP-Seq_HCT116_Human1.22314199
81TP63_19390658_ChIP-ChIP_HaCaT_Human1.21439141
82RBPJ_22232070_ChIP-Seq_NCS_Mouse1.19596395
83BCAT_22108803_ChIP-Seq_LS180_Human1.18280471
84RCOR1_19997604_ChIP-ChIP_NEURONS_Mouse1.18112987
85CDX2_22108803_ChIP-Seq_LS180_Human1.16400830
86ERG_20517297_ChIP-Seq_VCAP_Human1.14994750
87AHR_22903824_ChIP-Seq_MCF-7_Human1.13605232
88CBP_20019798_ChIP-Seq_JUKART_Human1.13210489
89IRF4_20064451_ChIP-Seq_CD4+T_Mouse1.13210489
90SMAD4_19686287_ChIP-ChIP_HaCaT_Human1.11565576
91NR3C1_23031785_ChIP-Seq_PC12_Mouse1.11548571
92GATA6_25053715_ChIP-Seq_YYC3_Human1.09806241
93EWS_26573619_Chip-Seq_HEK293_Human1.09093689
94JUN_21703547_ChIP-Seq_K562_Human1.07726018
95KLF5_20875108_ChIP-Seq_MESCs_Mouse1.07157398
96FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human1.06169997
97SUZ12_18555785_ChIP-Seq_MESCs_Mouse1.06113140
98PRDM14_20953172_ChIP-Seq_ESCs_Human1.06044123
99WT1_19549856_ChIP-ChIP_CCG9911_Human1.05457044
100TFAP2C_20629094_ChIP-Seq_MCF-7_Human1.05425408
101PBX1_22567123_ChIP-ChIP_OVCAR3_Human1.04883131
102STAT3_23295773_ChIP-Seq_U87_Human1.04508413
103AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human1.03946124
104TBX20_22080862_ChIP-Seq_HEART_Mouse1.03789744
105TBX20_22328084_ChIP-Seq_HEART_Mouse1.03789744
106CREM_20920259_ChIP-Seq_GC1-SPG_Mouse1.03716208
107GBX2_23144817_ChIP-Seq_PC3_Human1.02697585
108FOXA1_21572438_ChIP-Seq_LNCaP_Human1.02522033
109VDR_24787735_ChIP-Seq_THP-1_Human1.02372800
110E2F1_21310950_ChIP-Seq_MCF-7_Human1.02232729
111SOX9_24532713_ChIP-Seq_HFSC_Mouse1.02154100
112EGR1_19374776_ChIP-ChIP_THP-1_Human1.01716983
113SALL4_18804426_ChIP-ChIP_XEN_Mouse1.01201557
114CEBPB_22108803_ChIP-Seq_LS180_Human1.00640956
115SUZ12_18974828_ChIP-Seq_MESCs_Mouse0.99994294
116TP53_16413492_ChIP-PET_HCT116_Human0.99868985
117OCT1_27270436_Chip-Seq_PROSTATE_Human0.98157960
118FOXA2_19822575_ChIP-Seq_HepG2_Human0.98147377
119FOXM1_26456572_ChIP-Seq_MCF-7_Human0.98101094
120NRF2_20460467_ChIP-Seq_MEFs_Mouse0.96934572
121NFE2L2_20460467_ChIP-Seq_MEFs_Mouse0.96934572
122PADI4_21655091_ChIP-ChIP_MCF-7_Human0.96808285
123SMARCA4_20176728_ChIP-ChIP_TSCs_Mouse0.96502556
124ELK4_26923725_Chip-Seq_MESODERM_Mouse0.96075935
125RUNX1_27514584_Chip-Seq_MCF-7_Human0.95414314
126P53_21459846_ChIP-Seq_SAOS-2_Human0.95227580
127CEBPD_23245923_ChIP-Seq_MEFs_Mouse0.94756266
128TOP2B_26459242_ChIP-Seq_MCF-7_Human0.94307641
129CTBP1_25329375_ChIP-Seq_LNCAP_Human0.94269910
130ARNT_22903824_ChIP-Seq_MCF-7_Human0.93954389
131SMAD3_22036565_ChIP-Seq_ESCs_Mouse0.92940413
132EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human0.91802908
133NCOR_22424771_ChIP-Seq_293T_Human0.91658425
134SUZ12_16625203_ChIP-ChIP_MESCs_Mouse0.91439570
135FOXA1_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human0.90333555
136ERG_21242973_ChIP-ChIP_JURKAT_Human0.90196094
137GATA3_21878914_ChIP-Seq_MCF-7_Human0.89353010
138SMAD3_21741376_ChIP-Seq_EPCs_Human0.89032967
139SUZ12_18692474_ChIP-Seq_MEFs_Mouse0.87495924
140ESR1_15608294_ChIP-ChIP_MCF-7_Human0.86587636
141FOXA1_25329375_ChIP-Seq_VCAP_Human0.86526697
142FOXA1_27270436_Chip-Seq_PROSTATE_Human0.86526697
143CTBP2_25329375_ChIP-Seq_LNCAP_Human0.86516177
144Nerf2_26677805_Chip-Seq_MACROPHAGESS_Mouse0.86236562
145SMAD2/3_21741376_ChIP-Seq_EPCs_Human0.86232659
146AR_21572438_ChIP-Seq_LNCaP_Human0.85974340
147SUZ12_18692474_ChIP-Seq_MESCs_Mouse0.85532975
148TCF7L2_21901280_ChIP-Seq_H4IIE_Rat0.85486739
149HNF4A_19761587_ChIP-ChIP_CACO-2_Human0.85484926
150* EP300_20729851_ChIP-Seq_FORBRAIN_MIDBRAIN_LIMB_HEART_Mouse0.85328062
151TP63_23658742_ChIP-Seq_EP156T_Human0.85173309
152ESR1_20079471_ChIP-ChIP_T-47D_Human0.84611716
153WT1_25993318_ChIP-Seq_PODOCYTE_Human0.84388418
154RUNX2_24764292_ChIP-Seq_MC3T3_Mouse0.83368776
155KLF6_26769127_Chip-Seq_PDAC-Cell_line_Human0.83313425
156GATA4_25053715_ChIP-Seq_YYC3_Human0.83153767
157CREB1_15753290_ChIP-ChIP_HEK293T_Human0.82915074
158TRIM28_17542650_ChIP-ChIP_NTERA2_Human0.82689931
159SMAD4_21741376_ChIP-Seq_HESCs_Human0.82472293
160GATA3_24758297_ChIP-Seq_MCF-7_Human0.82311486
161VDR_20736230_ChIP-Seq_LYMPHOBLASTOID_Human0.82081159
162AR_21915096_ChIP-Seq_LNCaP-1F5_Human0.81406672
163MTF2_20144788_ChIP-Seq_MESCs_Mouse0.81348552
164SALL1_21062744_ChIP-ChIP_HESCs_Human0.81169369
165SMAD4_21799915_ChIP-Seq_A2780_Human0.81152591
166RAC3_21632823_ChIP-Seq_H3396_Human0.80812848
167HIF1A_21447827_ChIP-Seq_MCF-7_Human0.80379894
168GATA2_21666600_ChIP-Seq_HMVEC_Human0.79945145
169NR1H3_23393188_ChIP-Seq_ATHEROSCLEROTIC-FOAM_Human0.79464059
170EZH2_27294783_Chip-Seq_NPCs_Mouse0.79048905
171SOX2_27498859_Chip-Seq_STOMACH_Mouse0.79036993
172SCL_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.78709343
173TCF4_23295773_ChIP-Seq_U87_Human0.78128629
174BRD4_25478319_ChIP-Seq_HGPS_Human0.77691189
175EGR1_23403033_ChIP-Seq_LIVER_Mouse0.77682831
176SOX2_19829295_ChIP-Seq_ESCs_Human0.77308767
177NANOG_19829295_ChIP-Seq_ESCs_Human0.77308767
178UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human0.77201206
179TCF4_22108803_ChIP-Seq_LS180_Human0.77166133
180EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human0.76621925
181E2F1_18555785_Chip-Seq_ESCs_Mouse0.76154043
182CEBPA_26348894_ChIP-Seq_LIVER_Mouse0.75972355
183EKLF_21900194_ChIP-Seq_ERYTHROCYTE_Mouse0.75694291

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0008438_abnormal_cutaneous_collagen7.57641285
2MP0005275_abnormal_skin_tensile5.24041053
3MP0005670_abnormal_white_adipose5.13295989
4MP0008995_early_reproductive_senescence4.00644520
5MP0005666_abnormal_adipose_tissue3.74934043
6MP0005410_abnormal_fertilization3.65384604
7MP0002876_abnormal_thyroid_physiology3.39792006
8MP0002796_impaired_skin_barrier3.24200246
9MP0002254_reproductive_system_inflammat3.08324893
10MP0004185_abnormal_adipocyte_glucose3.02380261
11MP0005377_hearing/vestibular/ear_phenot2.97795540
12MP0003878_abnormal_ear_physiology2.97795540
13MP0005375_adipose_tissue_phenotype2.92525600
14MP0004130_abnormal_muscle_cell2.86835255
15MP0004264_abnormal_extraembryonic_tissu2.80845908
16MP0003705_abnormal_hypodermis_morpholog2.77514839
17MP0001545_abnormal_hematopoietic_system2.72974456
18MP0005397_hematopoietic_system_phenotyp2.72974456
19MP0002837_dystrophic_cardiac_calcinosis2.70890509
20MP0005503_abnormal_tendon_morphology2.68796827
21MP0004782_abnormal_surfactant_physiolog2.67997403
22MP0004957_abnormal_blastocyst_morpholog2.56737045
23MP0000678_abnormal_parathyroid_gland2.49027547
24MP0003890_abnormal_embryonic-extraembry2.37362264
25MP0000013_abnormal_adipose_tissue2.27756907
26MP0004272_abnormal_basement_membrane2.27131943
27MP0000372_irregular_coat_pigmentation2.24904064
28MP0000003_abnormal_adipose_tissue2.19557650
29MP0003718_maternal_effect2.10950455
30MP0005083_abnormal_biliary_tract2.08829259
31MP0008057_abnormal_DNA_replication2.05099388
32MP0010386_abnormal_urinary_bladder2.00914130
33MP0008004_abnormal_stomach_pH1.96812403
34MP0001929_abnormal_gametogenesis1.96810620
35MP0003191_abnormal_cellular_cholesterol1.96091578
36MP0001958_emphysema1.96003574
37MP0009697_abnormal_copulation1.94252938
38MP0002060_abnormal_skin_morphology1.91217732
39MP0003045_fibrosis1.87493206
40MP0003698_abnormal_male_reproductive1.84947797
41MP0010329_abnormal_lipoprotein_level1.81526726
42MP0009379_abnormal_foot_pigmentation1.81242880
43MP0009115_abnormal_fat_cell1.79121552
44MP0008058_abnormal_DNA_repair1.78410635
45MP0003656_abnormal_erythrocyte_physiolo1.78087931
46MP0005451_abnormal_body_composition1.71924479
47MP0001661_extended_life_span1.69059494
48MP0002971_abnormal_brown_adipose1.68229060
49MP0005501_abnormal_skin_physiology1.67334426
50MP0003786_premature_aging1.64266834
51MP0004147_increased_porphyrin_level1.63023955
52MP0010094_abnormal_chromosome_stability1.59945884
53MP0003693_abnormal_embryo_hatching1.50481014
54MP0002108_abnormal_muscle_morphology1.50136934
55MP0002210_abnormal_sex_determination1.50055940
56MP0002095_abnormal_skin_pigmentation1.48283215
57MP0005171_absent_coat_pigmentation1.45262077
58MP0005334_abnormal_fat_pad1.45125048
59MP0002132_abnormal_respiratory_system1.43701585
60MP0002166_altered_tumor_susceptibility1.39567099
61MP0003566_abnormal_cell_adhesion1.38988522
62MP0001542_abnormal_bone_strength1.37339670
63MP0003300_gastrointestinal_ulcer1.35940228
64MP0000750_abnormal_muscle_regeneration1.35821274
65MP0010352_gastrointestinal_tract_polyps1.34875774
66MP0000751_myopathy1.34325824
67MP0001666_abnormal_nutrient_absorption1.33509096
68MP0005636_abnormal_mineral_homeostasis1.32067851
69MP0002970_abnormal_white_adipose1.30089878
70MP0003111_abnormal_nucleus_morphology1.29949893
71MP0003959_abnormal_lean_body1.29104906
72MP0003690_abnormal_glial_cell1.26748559
73MP0010307_abnormal_tumor_latency1.22347347
74MP0010234_abnormal_vibrissa_follicle1.22280834
75MP0008932_abnormal_embryonic_tissue1.19871813
76MP0003385_abnormal_body_wall1.19724650
77MP0005023_abnormal_wound_healing1.17407198
78MP0001756_abnormal_urination1.17240743
79MP0002006_tumorigenesis1.16952349
80MP0006138_congestive_heart_failure1.15930478
81MP0002118_abnormal_lipid_homeostasis1.14762435
82MP0003941_abnormal_skin_development1.13886995
83MP0005164_abnormal_response_to1.13417531
84MP0005623_abnormal_meninges_morphology1.12864942
85MP0001145_abnormal_male_reproductive1.12724443
86MP0009931_abnormal_skin_appearance1.11312139
87MP0001672_abnormal_embryogenesis/_devel1.11249262
88MP0005380_embryogenesis_phenotype1.11249262
89MP0004019_abnormal_vitamin_homeostasis1.11092492
90MP0001188_hyperpigmentation1.10769979
91MP0002396_abnormal_hematopoietic_system1.07968865
92MP0000653_abnormal_sex_gland1.07291422
93MP0010368_abnormal_lymphatic_system1.06062153
94MP0005058_abnormal_lysosome_morphology1.05672886
95MP0003984_embryonic_growth_retardation1.03762344
96MP0001501_abnormal_sleep_pattern1.03597922
97MP0002086_abnormal_extraembryonic_tissu1.02546973
98MP0002249_abnormal_larynx_morphology1.00723363
99MP0005645_abnormal_hypothalamus_physiol1.00649918
100MP0002161_abnormal_fertility/fecundity0.99831307
101MP0000538_abnormal_urinary_bladder0.99727022
102MP0000015_abnormal_ear_pigmentation0.98687729
103MP0001216_abnormal_epidermal_layer0.98405779
104MP0002088_abnormal_embryonic_growth/wei0.97610233
105MP0000230_abnormal_systemic_arterial0.97481613
106MP0003077_abnormal_cell_cycle0.96907865
107MP0005620_abnormal_muscle_contractility0.96726163
108MP0002084_abnormal_developmental_patter0.96082408
109MP0001730_embryonic_growth_arrest0.95107109
110MP0005647_abnormal_sex_gland0.94934162
111MP0003075_altered_response_to0.93832110
112MP0002168_other_aberrant_phenotype0.91570266
113MP0000647_abnormal_sebaceous_gland0.89908735
114MP0005085_abnormal_gallbladder_physiolo0.89649279
115MP0000537_abnormal_urethra_morphology0.89080534
116MP0001485_abnormal_pinna_reflex0.89072151
117MP0002139_abnormal_hepatobiliary_system0.88352792
118MP0002909_abnormal_adrenal_gland0.88333099
119MP0000383_abnormal_hair_follicle0.88229215
120MP0005360_urolithiasis0.87934142
121MP0009780_abnormal_chondrocyte_physiolo0.87520462
122MP0005535_abnormal_body_temperature0.87131832
123MP0005448_abnormal_energy_balance0.86753032
124MP0001697_abnormal_embryo_size0.86570280
125MP0002295_abnormal_pulmonary_circulatio0.86504324
126MP0003724_increased_susceptibility_to0.86037016
127MP0003806_abnormal_nucleotide_metabolis0.85844051
128MP0009384_cardiac_valve_regurgitation0.84452540
129MP0004036_abnormal_muscle_relaxation0.83872147
130MP0003950_abnormal_plasma_membrane0.82786603
131MP0003828_pulmonary_edema0.82524150
132MP0000609_abnormal_liver_physiology0.82479926
133MP0001727_abnormal_embryo_implantation0.81762224
134MP0005365_abnormal_bile_salt0.81487051
135MP0000681_abnormal_thyroid_gland0.81459443
136MP0010678_abnormal_skin_adnexa0.80307692
137MP0000462_abnormal_digestive_system0.80083564
138MP0004947_skin_inflammation0.79147207
139MP0005408_hypopigmentation0.78247692
140MP0000377_abnormal_hair_follicle0.77934230
141MP0003279_aneurysm0.77840039
142MP0001764_abnormal_homeostasis0.77665958
143MP0004885_abnormal_endolymph0.76532141
144MP0005319_abnormal_enzyme/_coenzyme0.76240961
145MP0004215_abnormal_myocardial_fiber0.75907358
146MP0008775_abnormal_heart_ventricle0.75563527
147MP0003567_abnormal_fetal_cardiomyocyte0.74387133
148MP0001881_abnormal_mammary_gland0.74229901
149MP0003119_abnormal_digestive_system0.72734430
150MP0002080_prenatal_lethality0.72538238
151MP0003448_altered_tumor_morphology0.71321725
152MP0005174_abnormal_tail_pigmentation0.71022880
153MP0002078_abnormal_glucose_homeostasis0.70390185
154MP0009278_abnormal_bone_marrow0.68007535
155MP0005409_darkened_coat_color0.67663910
156MP0002332_abnormal_exercise_endurance0.66729344
157MP0006054_spinal_hemorrhage0.66639683
158MP0008770_decreased_survivor_rate0.66471037
159MP0005332_abnormal_amino_acid0.65910917
160MP0001177_atelectasis0.65249114
161MP0002127_abnormal_cardiovascular_syste0.64353595
162MP0001191_abnormal_skin_condition0.64285578
163MP0002138_abnormal_hepatobiliary_system0.64141057
164MP0005388_respiratory_system_phenotype0.64031580
165MP0002133_abnormal_respiratory_system0.64031580
166MP0003937_abnormal_limbs/digits/tail_de0.63763214
167MP0001784_abnormal_fluid_regulation0.63576943
168MP0000367_abnormal_coat/_hair0.62915437
169MP0005452_abnormal_adipose_tissue0.62402569
170MP0009643_abnormal_urine_homeostasis0.61729600
171MP0000350_abnormal_cell_proliferation0.61516373
172MP0002085_abnormal_embryonic_tissue0.61060362
173MP0001533_abnormal_skeleton_physiology0.60178899
174MP0005330_cardiomyopathy0.60166164
175MP0005595_abnormal_vascular_smooth0.60146942
176MP0003699_abnormal_female_reproductive0.59892396
177MP0002009_preneoplasia0.59212415
178MP0010771_integument_phenotype0.58868980
179MP0005395_other_phenotype0.58775139
180MP0004084_abnormal_cardiac_muscle0.55619939
181MP0003252_abnormal_bile_duct0.55405379
182MP0000249_abnormal_blood_vessel0.55025441
183MP0003091_abnormal_cell_migration0.54743675
184MP0005385_cardiovascular_system_phenoty0.54510768
185MP0001544_abnormal_cardiovascular_syste0.54510768

Predicted human phenotypes

RankGene SetZ-score
1Complement deficiency (HP:0004431)5.96902575
2Aortic aneurysm (HP:0004942)5.51410716
3Facial diplegia (HP:0001349)5.42324320
4Poikilocytosis (HP:0004447)5.19642693
5Aortic dissection (HP:0002647)5.08380725
6Oligomenorrhea (HP:0000876)5.01079601
7Short middle phalanx of the 5th finger (HP:0004220)4.72908445
8Acanthocytosis (HP:0001927)4.67768561
9Polycythemia (HP:0001901)4.57935124
10Abnormality of the heme biosynthetic pathway (HP:0010472)4.53188934
11Truncus arteriosus (HP:0001660)4.51662722
12Ileus (HP:0002595)4.39244321
13Abnormality of complement system (HP:0005339)4.31818565
14Acanthosis nigricans (HP:0000956)4.31643386
15Reticulocytosis (HP:0001923)4.31077164
16Increased density of long bones (HP:0006392)4.20621109
17Cholecystitis (HP:0001082)3.91093747
18Abnormal gallbladder physiology (HP:0012438)3.91093747
19Ankyloglossia (HP:0010296)3.89869644
20Abnormality of nail color (HP:0100643)3.87472787
21Ankle contracture (HP:0006466)3.70468615
22Cerebral aneurysm (HP:0004944)3.62333067
23Palmoplantar hyperkeratosis (HP:0000972)3.61798451
24Growth hormone excess (HP:0000845)3.61482020
25Broad metatarsal (HP:0001783)3.57760265
26Elevated circulating parathyroid hormone (PTH) level (HP:0003165)3.54996516
27Premature rupture of membranes (HP:0001788)3.52950526
28Rectal prolapse (HP:0002035)3.51112586
29Palmar hyperkeratosis (HP:0010765)3.50206813
30Broad ribs (HP:0000885)3.36759559
31Homocystinuria (HP:0002156)3.35532064
32Abnormality of homocysteine metabolism (HP:0010919)3.35532064
33Duplicated collecting system (HP:0000081)3.33772783
34Increased connective tissue (HP:0009025)3.33212374
35Hypoplastic labia majora (HP:0000059)3.32783166
36Bowel incontinence (HP:0002607)3.32626506
37Right ventricular cardiomyopathy (HP:0011663)3.26405639
38Acute myeloid leukemia (HP:0004808)3.26298970
39Abnormality of reticulocytes (HP:0004312)3.23394118
40Hydroxyprolinuria (HP:0003080)3.20874351
41Abnormality of proline metabolism (HP:0010907)3.20874351
42Aplasia/Hypoplasia of the earlobes (HP:0009906)3.13916248
43Abnormal large intestine physiology (HP:0012700)3.12910140
44Seborrheic dermatitis (HP:0001051)3.11037999
45Abnormality of the labia majora (HP:0012881)3.10699246
46Erythroderma (HP:0001019)3.07480479
47Abnormality of the renal collecting system (HP:0004742)3.06475800
48Conjunctival hamartoma (HP:0100780)3.06335508
49Recurrent gram-negative bacterial infections (HP:0005420)3.05760194
50Increased IgE level (HP:0003212)3.05010892
51Hypertriglyceridemia (HP:0002155)3.01760854
52Aneurysm (HP:0002617)2.98941180
53Overgrowth (HP:0001548)2.93448047
54Protrusio acetabuli (HP:0003179)2.90808597
55Congenital ichthyosiform erythroderma (HP:0007431)2.88631311
56Sandal gap (HP:0001852)2.81994667
57Type 1 muscle fiber predominance (HP:0003803)2.81637854
58Abnormality of secondary sexual hair (HP:0009888)2.79999860
59Abnormality of the axillary hair (HP:0100134)2.79999860
60Soft skin (HP:0000977)2.76004879
61Onycholysis (HP:0001806)2.74856335
62Birth length less than 3rd percentile (HP:0003561)2.73305258
63Severe visual impairment (HP:0001141)2.69036014
64Plantar hyperkeratosis (HP:0007556)2.67864402
65Striae distensae (HP:0001065)2.66224752
66Alopecia of scalp (HP:0002293)2.65669754
67Abnormality of cochlea (HP:0000375)2.62628326
68Aplasia/Hypoplasia of the middle phalanx of the 5th finger (HP:0009161)2.60835640
69Osteolytic defects of the phalanges of the hand (HP:0009771)2.59136675
70Osteolytic defects of the hand bones (HP:0009699)2.59136675
71Subcapsular cataract (HP:0000523)2.57010831
72Chromsome breakage (HP:0040012)2.56817411
73Male infertility (HP:0003251)2.54549130
74Shallow orbits (HP:0000586)2.46236984
75Chromosomal breakage induced by crosslinking agents (HP:0003221)2.40374134
76Tubulointerstitial nephritis (HP:0001970)2.39650819
77Ureteral duplication (HP:0000073)2.39244533
78Hyperglycinuria (HP:0003108)2.38638212
79Testicular atrophy (HP:0000029)2.38625164
80Systemic lupus erythematosus (HP:0002725)2.37985249
81Cortical dysplasia (HP:0002539)2.36499188
82Mitral valve prolapse (HP:0001634)2.35737502
83Long foot (HP:0001833)2.35197975
84Fragile skin (HP:0001030)2.35045775
85Abnormality of oral frenula (HP:0000190)2.34194890
86Enlarged penis (HP:0000040)2.34054992
87Abnormal hemoglobin (HP:0011902)2.32068862
88Insulin-resistant diabetes mellitus (HP:0000831)2.31639372
89Hypertensive crisis (HP:0100735)2.28904145
90Upper limb muscle weakness (HP:0003484)2.27598854
91Hyperpituitarism (HP:0010514)2.27504385
92Hyperbilirubinemia (HP:0002904)2.26174207
93Thick nail (HP:0001805)2.24656442
94Myocardial infarction (HP:0001658)2.24115557
95Premature ovarian failure (HP:0008209)2.23689370
96Aortic regurgitation (HP:0001659)2.21982339
97Septate vagina (HP:0001153)2.21970273
98Abnormality of sulfur amino acid metabolism (HP:0004339)2.21288987
99Short 5th finger (HP:0009237)2.21050715
100Muscle fiber splitting (HP:0003555)2.19761384
101Aplasia/Hypoplasia of the phalanges of the 5th finger (HP:0009376)2.19424828
102Hemorrhage of the eye (HP:0011885)2.19327154
103Abnormal hair laboratory examination (HP:0003328)2.17533464
104Blepharitis (HP:0000498)2.17464229
105Choanal stenosis (HP:0000452)2.17361256
106Pigmentary retinal degeneration (HP:0001146)2.16287725
107Abnormality of the middle phalanx of the 5th finger (HP:0004219)2.15293332
108Abnormality of calcium-phosphate metabolism (HP:0100530)2.14524423
109Follicular hyperkeratosis (HP:0007502)2.14517694
110Hypercortisolism (HP:0001578)2.14053796
111Hypoparathyroidism (HP:0000829)2.11985012
112Small intestinal stenosis (HP:0012848)2.11124931
113Duodenal stenosis (HP:0100867)2.11124931
114Spinal rigidity (HP:0003306)2.10699295
115Hyporeflexia of lower limbs (HP:0002600)2.09707005
116Gastrointestinal dysmotility (HP:0002579)2.09278947
117Craniofacial hyperostosis (HP:0004493)2.09242437
118Breast hypoplasia (HP:0003187)2.08026568
119Atrophic scars (HP:0001075)2.07064217
120Hyperthyroidism (HP:0000836)2.06262948
121Erythema (HP:0010783)2.01588769
122Hypotrichosis (HP:0001006)2.00847822
123Hamartoma of the eye (HP:0010568)2.00464197
124Papilledema (HP:0001085)10.3402837
125Epidermoid cyst (HP:0200040)1.99352110
126Palpitations (HP:0001962)1.99268829
127Stroke (HP:0001297)1.99221160
128Cholelithiasis (HP:0001081)1.98754325
129Dilatation of the ascending aorta (HP:0005111)1.98561322
130Potter facies (HP:0002009)1.95727635
131Facial shape deformation (HP:0011334)1.95727635
132Aplasia/Hypoplasia of the 5th finger (HP:0006262)1.94773911
133Tinnitus (HP:0000360)1.93702451
134Abnormality of glutamine family amino acid metabolism (HP:0010902)1.93571533
135Abnormality of the aortic arch (HP:0012303)1.93462214
136Abnormal cortical bone morphology (HP:0003103)1.92956378
137Pili torti (HP:0003777)1.92468800
138Skin nodule (HP:0200036)1.91055875
139Hyperkalemia (HP:0002153)1.89398367
140Abnormality of the preputium (HP:0100587)1.87981910
141Insulin resistance (HP:0000855)1.87681717
142Short middle phalanx of finger (HP:0005819)1.87262057
143Hypoalphalipoproteinemia (HP:0003233)1.87105801
144Hypoplasia of the iris (HP:0007676)1.86169306
145Abnormality of dental color (HP:0011073)1.86150391
146Abnormality of chromosome stability (HP:0003220)1.84872371
147Lipoatrophy (HP:0100578)1.84191038
148Nonimmune hydrops fetalis (HP:0001790)1.83858850
149Cervical subluxation (HP:0003308)1.83790602
150Bell-shaped thorax (HP:0001591)1.83406125
151Abnormality of the phalanges of the 5th finger (HP:0004213)1.83051372
152Hyperextensible skin (HP:0000974)1.82887825
153Ulnar claw (HP:0001178)1.82154976
154Aplasia/Hypoplasia of the uvula (HP:0010293)1.82070616
155Bladder diverticulum (HP:0000015)1.81524377
156Abnormal cartilage morphology (HP:0002763)1.81003501
157Proximal tubulopathy (HP:0000114)1.80643322
158Increased variability in muscle fiber diameter (HP:0003557)1.80542823
159Scapular winging (HP:0003691)1.78591367
160Venous insufficiency (HP:0005293)1.78121354
161Sudden death (HP:0001699)1.77631374
162Hypoplastic pelvis (HP:0008839)1.77328561
163Underdeveloped nasal alae (HP:0000430)1.76795799
164Redundant skin (HP:0001582)1.76512926
165Abnormal umbilical cord blood vessels (HP:0011403)1.75854619
166Single umbilical artery (HP:0001195)1.75854619
167Abnormality of the fetal cardiovascular system (HP:0010948)1.75854619
168Abnormality of the fingertips (HP:0001211)1.75709970
169Long clavicles (HP:0000890)1.75414528
170Hematochezia (HP:0002573)1.74618715
171Abnormality of serine family amino acid metabolism (HP:0010894)1.74214676
172Abnormality of glycine metabolism (HP:0010895)1.74214676
173Atelectasis (HP:0100750)1.73926790
174Delayed closure of the anterior fontanelle (HP:0001476)1.73666362
175Difficulty running (HP:0009046)1.73269081
176Nausea (HP:0002018)1.72762527
177Nephritis (HP:0000123)1.72581431
178Reduced subcutaneous adipose tissue (HP:0003758)1.72232287
179Proximal amyotrophy (HP:0007126)1.71538728
180Macroorchidism (HP:0000053)1.71221194
181Enlarged epiphyses (HP:0010580)1.70917116
182Arteriovenous malformation (HP:0100026)1.70238453
183Hand muscle atrophy (HP:0009130)1.69976126
184Tarsal synostosis (HP:0008368)1.69925233
185Abnormal gallbladder morphology (HP:0012437)1.69742496
186Gonadal dysgenesis (HP:0000133)1.69331393
187Ectopia lentis (HP:0001083)1.68464135
188Tetraparesis (HP:0002273)1.66977411
189Malnutrition (HP:0004395)1.66676162
190Polar cataract (HP:0010696)1.66138683
191Neoplasm of the heart (HP:0100544)1.65762402
192Venous abnormality (HP:0002624)1.65637154
193Azoospermia (HP:0000027)1.64025486
194Wrist flexion contracture (HP:0001239)1.63341608
195Asymmetric septal hypertrophy (HP:0001670)1.60780294
196Abnormality of the calcaneus (HP:0008364)1.59724042

Predicted kinase interactions (KEA)

RankGene SetZ-score
1PLK46.77518314
2MYLK5.48629079
3CAMK1D4.40638321
4FRK3.57268117
5LMTK23.57026234
6RIPK43.36101068
7TRIB33.15026373
8CAMK1G3.02744270
9TTK2.87735892
10ACVR1B2.84841581
11CLK12.84076254
12SIK12.82165950
13EIF2AK12.60097034
14TTN2.53154786
15LATS22.36098814
16BRSK22.35210258
17KSR22.17495668
18PAK22.17025195
19PIK3CG2.13233625
20BCKDK2.12161319
21LATS12.07150075
22WEE12.05415188
23NTRK31.93195095
24DMPK1.90806210
25PDGFRA1.85836113
26FER1.81394088
27ERN11.74266644
28DDR21.73069817
29RIPK11.71313604
30FGFR21.71082622
31MST1R1.64536853
32INSRR1.63773923
33BRD41.63024343
34PDK21.62774610
35PDK31.48702824
36PDK41.48702824
37TNIK1.48438844
38FGFR41.46240994
39PLK21.45177989
40SCYL21.43261655
41EPHA31.42400175
42EEF2K1.36588307
43NME11.31898899
44FGFR31.31347288
45BMPR1B1.23930164
46JAK11.23780180
47MAP3K41.21281351
48PNCK1.21120682
49MET1.17069464
50MAP3K81.13149912
51CCNB11.12215173
52TEC1.11450804
53STK38L1.05932845
54KSR11.04537567
55NEK21.02046014
56EPHB11.01634991
57PRKAA20.98945253
58CDC70.94976733
59WNK10.94010614
60SRPK10.93282847
61AKT30.93174044
62CDK90.88814982
63TAOK30.86983105
64MAP4K20.86267930
65TIE10.85751795
66JAK20.85258604
67PBK0.83958532
68CHEK20.83874338
69ERBB40.81133278
70GSK3A0.79484231
71EIF2AK30.78672775
72WNK40.77006561
73RET0.76137033
74PIK3CA0.75855591
75CHEK10.74454573
76CDK120.74427135
77CDK30.74205814
78PINK10.73432323
79TRPM70.72632818
80MAP2K10.72616537
81TNK20.69316381
82MAP3K20.68956907
83NEK60.66144491
84PHKG10.65822465
85PHKG20.65822465
86MKNK10.63797218
87ATM0.63729470
88MTOR0.62533804
89PRKD30.61888073
90MKNK20.61256111
91DAPK20.60265128
92NTRK10.60029960
93MAPKAPK30.59973313
94ROCK10.59265246
95TYRO30.59018450
96CDK10.57719618
97EPHB20.56464746
98PLK30.54909657
99BRSK10.54585113
100BMPR20.54292385
101CDC42BPA0.54116076
102MAP3K70.53652791
103MATK0.53201667
104CDK20.52783093
105TGFBR20.51470287
106TSSK60.50804243
107PTK20.50645641
108PDPK10.50578847
109PDGFRB0.50072069
110PRKG20.49882740
111MAP3K60.49853684
112CAMK2G0.49066238
113TGFBR10.48995876
114BTK0.48116777
115PTK60.47240064
116PLK10.46379160
117RPS6KA40.45542137
118LRRK20.44828427
119RAF10.44771917
120PRKCH0.44766275
121STK30.44759678
122NEK10.44657509
123SGK10.44011204
124IRAK10.43957801
125MST40.43786482
126ATR0.42865328
127PAK30.42182171
128ERBB30.42019782
129PDK10.41302126
130FGFR10.40615461
131PRKAA10.40265351
132BMX0.40099263
133STK390.39834930
134GRK50.39411874
135MAP2K40.39398218
136MAPK30.38892609
137ERBB20.38697570
138MARK30.38522551
139OXSR10.38455789
140MAP3K10.37576262
141CSNK1E0.36019909
142INSR0.36017115
143PKN20.35861455
144ILK0.35574160
145CDK60.35490123
146RPS6KB20.35106437
147BRAF0.35045601
148MAPK10.34504018
149MAPK110.34178110
150NLK0.33730929
151IGF1R0.33087116
152PRKACB0.32167863
153EIF2AK20.32062689
154MAP2K20.31661283
155NUAK10.31164172
156SRC0.30760669
157TESK10.30594824
158PRKACG0.30498276
159IRAK30.30225933
160PRKD10.28993487
161CAMK10.27689045
162PTK2B0.26456762
163JAK30.25475132
164MAPK120.24982885

Predicted pathways (KEGG)

RankGene SetZ-score
1Butirosin and neomycin biosynthesis_Homo sapiens_hsa005244.47664301
2Regulation of lipolysis in adipocytes_Homo sapiens_hsa049233.94069660
3PPAR signaling pathway_Homo sapiens_hsa033203.52822159
4Fatty acid biosynthesis_Homo sapiens_hsa000613.31739969
5Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008603.31662625
6Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa009702.92750686
7Nitrogen metabolism_Homo sapiens_hsa009102.81723167
8One carbon pool by folate_Homo sapiens_hsa006702.56384205
9Olfactory transduction_Homo sapiens_hsa047402.56280415
10Fatty acid metabolism_Homo sapiens_hsa012122.53446390
11RNA transport_Homo sapiens_hsa030132.51071292
12Propanoate metabolism_Homo sapiens_hsa006402.38158589
13Glycerolipid metabolism_Homo sapiens_hsa005612.30351973
14Valine, leucine and isoleucine degradation_Homo sapiens_hsa002802.22139764
15Homologous recombination_Homo sapiens_hsa034402.18487331
16Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030082.11285732
17Steroid biosynthesis_Homo sapiens_hsa001002.06980172
18Fatty acid degradation_Homo sapiens_hsa000712.01845140
19ABC transporters_Homo sapiens_hsa020102.01671609
20* ECM-receptor interaction_Homo sapiens_hsa045121.99819734
21Mismatch repair_Homo sapiens_hsa034301.99488689
22Cyanoamino acid metabolism_Homo sapiens_hsa004601.87649947
23Phenylalanine metabolism_Homo sapiens_hsa003601.84937739
24Adipocytokine signaling pathway_Homo sapiens_hsa049201.82170006
25Complement and coagulation cascades_Homo sapiens_hsa046101.77752499
26Cell cycle_Homo sapiens_hsa041101.72131848
27Fanconi anemia pathway_Homo sapiens_hsa034601.71739676
28Vitamin digestion and absorption_Homo sapiens_hsa049771.71696672
29Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010401.53539655
30beta-Alanine metabolism_Homo sapiens_hsa004101.50165637
31* Protein digestion and absorption_Homo sapiens_hsa049741.49465394
32AMPK signaling pathway_Homo sapiens_hsa041521.48727954
33Fat digestion and absorption_Homo sapiens_hsa049751.47780363
34Basal transcription factors_Homo sapiens_hsa030221.47499932
35Caffeine metabolism_Homo sapiens_hsa002321.47375991
36Prion diseases_Homo sapiens_hsa050201.47193927
37Tyrosine metabolism_Homo sapiens_hsa003501.47049663
38Staphylococcus aureus infection_Homo sapiens_hsa051501.45974879
39Mineral absorption_Homo sapiens_hsa049781.45577342
40* Focal adhesion_Homo sapiens_hsa045101.43170233
41Vitamin B6 metabolism_Homo sapiens_hsa007501.40767967
42Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049641.37866257
432-Oxocarboxylic acid metabolism_Homo sapiens_hsa012101.33107722
44Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006011.32245580
45Progesterone-mediated oocyte maturation_Homo sapiens_hsa049141.31356292
46Renin secretion_Homo sapiens_hsa049241.30139081
47Ether lipid metabolism_Homo sapiens_hsa005651.28191089
48Arginine biosynthesis_Homo sapiens_hsa002201.25935868
49Acute myeloid leukemia_Homo sapiens_hsa052211.24000873
50DNA replication_Homo sapiens_hsa030301.21961631
51Taurine and hypotaurine metabolism_Homo sapiens_hsa004301.21471146
52Pyruvate metabolism_Homo sapiens_hsa006201.15732614
53Vascular smooth muscle contraction_Homo sapiens_hsa042701.15170064
54Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005201.14001400
55Citrate cycle (TCA cycle)_Homo sapiens_hsa000201.12547525
56Nucleotide excision repair_Homo sapiens_hsa034201.10037386
57Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004001.09481244
58Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006301.08866737
59Oocyte meiosis_Homo sapiens_hsa041141.07724179
60Amoebiasis_Homo sapiens_hsa051461.02994064
61Insulin resistance_Homo sapiens_hsa049311.02700772
62Selenocompound metabolism_Homo sapiens_hsa004500.99306322
63Tryptophan metabolism_Homo sapiens_hsa003800.98983845
64alpha-Linolenic acid metabolism_Homo sapiens_hsa005920.96252328
65Arachidonic acid metabolism_Homo sapiens_hsa005900.93368986
66Primary bile acid biosynthesis_Homo sapiens_hsa001200.93097271
67Ovarian steroidogenesis_Homo sapiens_hsa049130.93039884
68Longevity regulating pathway - mammal_Homo sapiens_hsa042110.93009631
69Drug metabolism - cytochrome P450_Homo sapiens_hsa009820.89610041
70Insulin signaling pathway_Homo sapiens_hsa049100.88967418
71Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.87683790
72Steroid hormone biosynthesis_Homo sapiens_hsa001400.87515417
73Butanoate metabolism_Homo sapiens_hsa006500.85873264
74Thyroid hormone synthesis_Homo sapiens_hsa049180.84719872
75Small cell lung cancer_Homo sapiens_hsa052220.83501355
76Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.83350659
77Bile secretion_Homo sapiens_hsa049760.81478774
78Glucagon signaling pathway_Homo sapiens_hsa049220.77742168
79Retinol metabolism_Homo sapiens_hsa008300.77671807
80Thyroid cancer_Homo sapiens_hsa052160.77523052
81Synthesis and degradation of ketone bodies_Homo sapiens_hsa000720.77393819
82Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049600.76065492
83Sulfur metabolism_Homo sapiens_hsa009200.75254793
84mRNA surveillance pathway_Homo sapiens_hsa030150.74426788
85Chemical carcinogenesis_Homo sapiens_hsa052040.72365286
86Sphingolipid metabolism_Homo sapiens_hsa006000.71989478
87Type II diabetes mellitus_Homo sapiens_hsa049300.71519030
88Spliceosome_Homo sapiens_hsa030400.71320899
89VEGF signaling pathway_Homo sapiens_hsa043700.71253274
90Peroxisome_Homo sapiens_hsa041460.70932139
91Phototransduction_Homo sapiens_hsa047440.70837550
92Glycine, serine and threonine metabolism_Homo sapiens_hsa002600.70735263
93Proteoglycans in cancer_Homo sapiens_hsa052050.70032642
94Carbon metabolism_Homo sapiens_hsa012000.69103584
95cGMP-PKG signaling pathway_Homo sapiens_hsa040220.68346118
96Non-homologous end-joining_Homo sapiens_hsa034500.66152503
97Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009800.65804242
98Gastric acid secretion_Homo sapiens_hsa049710.65112106
99Chronic myeloid leukemia_Homo sapiens_hsa052200.64648272
100Dilated cardiomyopathy_Homo sapiens_hsa054140.64414011
101Starch and sucrose metabolism_Homo sapiens_hsa005000.64202128
102Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.62181163
103Ubiquitin mediated proteolysis_Homo sapiens_hsa041200.60942226
104Salivary secretion_Homo sapiens_hsa049700.59708210
105Fatty acid elongation_Homo sapiens_hsa000620.57897198
106Fructose and mannose metabolism_Homo sapiens_hsa000510.57165306
107Drug metabolism - other enzymes_Homo sapiens_hsa009830.55383728
108Central carbon metabolism in cancer_Homo sapiens_hsa052300.55195478
109Choline metabolism in cancer_Homo sapiens_hsa052310.54707116
110Platelet activation_Homo sapiens_hsa046110.54128474
111cAMP signaling pathway_Homo sapiens_hsa040240.53221002
112Histidine metabolism_Homo sapiens_hsa003400.52258899
113Pancreatic cancer_Homo sapiens_hsa052120.52109605
114Glycerophospholipid metabolism_Homo sapiens_hsa005640.51969533
115Adherens junction_Homo sapiens_hsa045200.50608797
116Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054100.50336478
117AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa049330.49319079
118Inositol phosphate metabolism_Homo sapiens_hsa005620.48465538
119MicroRNAs in cancer_Homo sapiens_hsa052060.48361620
120mTOR signaling pathway_Homo sapiens_hsa041500.48064770
121Tight junction_Homo sapiens_hsa045300.47640547
122Glycosaminoglycan degradation_Homo sapiens_hsa005310.46857655
123Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054120.46419385
124Maturity onset diabetes of the young_Homo sapiens_hsa049500.45769197
125Phosphatidylinositol signaling system_Homo sapiens_hsa040700.45729621
126Renin-angiotensin system_Homo sapiens_hsa046140.44528524
127Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa045500.44413453
128Estrogen signaling pathway_Homo sapiens_hsa049150.44019644
129Lysosome_Homo sapiens_hsa041420.43889107
130Sulfur relay system_Homo sapiens_hsa041220.43800559
131Linoleic acid metabolism_Homo sapiens_hsa005910.43067650
132Cysteine and methionine metabolism_Homo sapiens_hsa002700.42669379
133Prolactin signaling pathway_Homo sapiens_hsa049170.41636620
134Protein processing in endoplasmic reticulum_Homo sapiens_hsa041410.41560150
135Oxytocin signaling pathway_Homo sapiens_hsa049210.39688681
136Metabolic pathways_Homo sapiens_hsa011000.38881280
137Dorso-ventral axis formation_Homo sapiens_hsa043200.38765654
138Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.38075743
139* PI3K-Akt signaling pathway_Homo sapiens_hsa041510.37547644
140Biosynthesis of amino acids_Homo sapiens_hsa012300.37236702
141Lysine degradation_Homo sapiens_hsa003100.34905151
142Pantothenate and CoA biosynthesis_Homo sapiens_hsa007700.34594184
143Pentose and glucuronate interconversions_Homo sapiens_hsa000400.34185583
144Renal cell carcinoma_Homo sapiens_hsa052110.32520457
145Toxoplasmosis_Homo sapiens_hsa051450.31005834
146ErbB signaling pathway_Homo sapiens_hsa040120.30626350
147N-Glycan biosynthesis_Homo sapiens_hsa005100.30433423
148TGF-beta signaling pathway_Homo sapiens_hsa043500.29862563
149Jak-STAT signaling pathway_Homo sapiens_hsa046300.27436890
150Base excision repair_Homo sapiens_hsa034100.26350858
151Carbohydrate digestion and absorption_Homo sapiens_hsa049730.25023650
152Glycolysis / Gluconeogenesis_Homo sapiens_hsa000100.24885475
153HIF-1 signaling pathway_Homo sapiens_hsa040660.24239008
154Glutathione metabolism_Homo sapiens_hsa004800.21625424
155Melanoma_Homo sapiens_hsa052180.21495537
156Thyroid hormone signaling pathway_Homo sapiens_hsa049190.20567994
157Pathways in cancer_Homo sapiens_hsa052000.20272725
158Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042610.20161502

Most similar genes based on co-expression Upload to Enrichr

Tissue Expression Export image »

Cell Line Expression Export image »