PCSK5

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 subtilisin-like proprotein convertase family, which includes proteases that process protein and peptide precursors trafficking through regulated or constitutive branches of the secretory pathway. The encoded protein undergoes an initial autocatalytic processing event in the ER to generate a heterodimer which exits the ER. It then sorts to the trans-Golgi network where a second autocatalytic event takes place and the catalytic activity is acquired. This encoded protein is widely expressed and one of the seven basic amino acid-specific members which cleave their substrates at single or paired basic residues. It mediates posttranslational endoproteolytic processing for several integrin alpha subunits and is thought to process prorenin, pro-membrane type-1 matrix metalloproteinase and HIV-1 glycoprotein gp160. Alternative splicing results in multiple transcript variants, some of which encode distinct isoforms, including a protease packaged into dense core granules (PC5A) and a type 1 membrane bound protease (PC5B). NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1indole-containing compound catabolic process (GO:0042436)5.94955983
2indolalkylamine catabolic process (GO:0046218)5.94955983
3tryptophan catabolic process (GO:0006569)5.94955983
4kynurenine metabolic process (GO:0070189)5.87204131
5intestinal absorption (GO:0050892)5.63906961
6intestinal cholesterol absorption (GO:0030299)5.62687031
7indolalkylamine metabolic process (GO:0006586)5.59934225
8cilium or flagellum-dependent cell motility (GO:0001539)5.42003696
9angiotensin maturation (GO:0002003)5.05535587
10response to misfolded protein (GO:0051788)4.99557014
11monoubiquitinated protein deubiquitination (GO:0035520)4.92391169
12tryptophan metabolic process (GO:0006568)4.87967746
13triglyceride-rich lipoprotein particle remodeling (GO:0034370)4.75372947
14positive regulation of developmental pigmentation (GO:0048087)4.75156732
15regulation of pigment cell differentiation (GO:0050932)4.62296867
16regulation of hippo signaling (GO:0035330)4.61150172
17epoxygenase P450 pathway (GO:0019373)4.58650354
18protein K48-linked deubiquitination (GO:0071108)4.55282089
19regulation of posttranscriptional gene silencing (GO:0060147)4.43017542
20regulation of gene silencing by miRNA (GO:0060964)4.43017542
21regulation of gene silencing by RNA (GO:0060966)4.43017542
22drug catabolic process (GO:0042737)4.35390537
23NAD biosynthetic process (GO:0009435)4.30002375
24detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)4.26810163
25indole-containing compound metabolic process (GO:0042430)4.23820088
26photoreceptor cell maintenance (GO:0045494)4.21446370
27regulation of bile acid biosynthetic process (GO:0070857)4.21268383
28negative regulation of cytosolic calcium ion concentration (GO:0051481)4.20405183
29negative regulation of protein localization to cell surface (GO:2000009)4.19459232
30cellular ketone body metabolic process (GO:0046950)4.16240072
31regulation of sarcomere organization (GO:0060297)4.09011937
32oxidative demethylation (GO:0070989)4.07861114
33reflex (GO:0060004)4.04714429
34high-density lipoprotein particle remodeling (GO:0034375)4.03700572
35endosome to melanosome transport (GO:0035646)4.02809365
36endosome to pigment granule transport (GO:0043485)4.02809365
37negative regulation of sodium ion transport (GO:0010766)3.95505068
38serotonin metabolic process (GO:0042428)3.94525503
39snRNA transcription (GO:0009301)3.93663759
40regulation of systemic arterial blood pressure by renin-angiotensin (GO:0003081)3.92906261
41regulation of cholesterol esterification (GO:0010872)3.91598554
42reverse cholesterol transport (GO:0043691)3.91251962
43UDP-N-acetylglucosamine metabolic process (GO:0006047)3.91159352
44cholesterol efflux (GO:0033344)3.90960443
45regulation of triglyceride catabolic process (GO:0010896)3.87884048
46regulation of short-term neuronal synaptic plasticity (GO:0048172)3.82291304
47phospholipid efflux (GO:0033700)3.81993747
48detection of light stimulus involved in visual perception (GO:0050908)3.77405006
49detection of light stimulus involved in sensory perception (GO:0050962)3.77405006
50glomerulus development (GO:0032835)3.73160959
51lipoprotein metabolic process (GO:0042157)3.72773537
52cellular biogenic amine catabolic process (GO:0042402)3.70438193
53amine catabolic process (GO:0009310)3.70438193
54flavonoid metabolic process (GO:0009812)3.67482553
55* signal peptide processing (GO:0006465)3.67272515
56gamma-aminobutyric acid transport (GO:0015812)3.64773326
57ketone body metabolic process (GO:1902224)3.63578414
58plasma lipoprotein particle assembly (GO:0034377)3.61946969
59phospholipid translocation (GO:0045332)3.59126202
60lipid translocation (GO:0034204)3.59126202
61very-low-density lipoprotein particle assembly (GO:0034379)3.59069913
62primary amino compound metabolic process (GO:1901160)3.58230637
63alkaloid metabolic process (GO:0009820)3.57754160
64C21-steroid hormone biosynthetic process (GO:0006700)3.57194194
65plasma lipoprotein particle remodeling (GO:0034369)3.51168423
66protein-lipid complex remodeling (GO:0034368)3.51168423
67macromolecular complex remodeling (GO:0034367)3.51168423
68membrane depolarization during action potential (GO:0086010)3.48996489
69dicarboxylic acid biosynthetic process (GO:0043650)3.48475871
70neural tube formation (GO:0001841)3.41908596
71negative regulation of systemic arterial blood pressure (GO:0003085)3.41124526
72nucleobase catabolic process (GO:0046113)3.40211198
73glyoxylate metabolic process (GO:0046487)3.39211373
74positive regulation of lipid catabolic process (GO:0050996)3.39008201
75auditory receptor cell stereocilium organization (GO:0060088)3.37096486
76protein-lipid complex assembly (GO:0065005)3.36637147
77synaptic vesicle docking involved in exocytosis (GO:0016081)3.35036411
78regulation of establishment of cell polarity (GO:2000114)3.34085895
79cholesterol homeostasis (GO:0042632)3.34038310
80retinal cone cell development (GO:0046549)3.33902624
81glucocorticoid biosynthetic process (GO:0006704)3.33842189
82urea metabolic process (GO:0019627)3.33630993
83urea cycle (GO:0000050)3.33630993
84adhesion of symbiont to host (GO:0044406)3.32566002
85dicarboxylic acid catabolic process (GO:0043649)3.32044285
86sterol homeostasis (GO:0055092)3.31862765
87fucose catabolic process (GO:0019317)3.30970897
88L-fucose metabolic process (GO:0042354)3.30970897
89L-fucose catabolic process (GO:0042355)3.30970897
90sterol transport (GO:0015918)3.30051704
91cholesterol transport (GO:0030301)3.30051704
92tachykinin receptor signaling pathway (GO:0007217)3.27806227
93alpha-linolenic acid metabolic process (GO:0036109)3.27086438
94positive regulation of lipoprotein lipase activity (GO:0051006)3.25804038
95positive regulation of triglyceride lipase activity (GO:0061365)3.25804038
96striated muscle atrophy (GO:0014891)3.25410037
97one-carbon compound transport (GO:0019755)3.25173802
98misfolded or incompletely synthesized protein catabolic process (GO:0006515)3.24739809
99glucocorticoid metabolic process (GO:0008211)3.22487450
100homocysteine metabolic process (GO:0050667)3.21930374
101nicotinamide nucleotide biosynthetic process (GO:0019359)3.21127585
102pyridine nucleotide biosynthetic process (GO:0019363)3.21127585
103negative regulation of cholesterol transport (GO:0032375)3.20661436
104negative regulation of sterol transport (GO:0032372)3.20661436
105thyroid hormone metabolic process (GO:0042403)3.20284665
106plasma lipoprotein particle clearance (GO:0034381)3.19584619
107protein K63-linked deubiquitination (GO:0070536)3.18730345
108positive regulation of fatty acid beta-oxidation (GO:0032000)3.18250149
109negative regulation of complement activation (GO:0045916)3.17136361
110negative regulation of calcium ion transport into cytosol (GO:0010523)3.16630288
111hormone catabolic process (GO:0042447)3.16606934
112negative regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030948)3.16060417
113triglyceride homeostasis (GO:0070328)3.15230944
114acylglycerol homeostasis (GO:0055090)3.15230944
115nonmotile primary cilium assembly (GO:0035058)3.10685318
116positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)3.10404319
117cellular response to sterol (GO:0036315)3.09929193
118exogenous drug catabolic process (GO:0042738)3.08466352
119neuronal action potential (GO:0019228)3.07746774
120vitamin A metabolic process (GO:0006776)3.07217169
121limb development (GO:0060173)3.05186923
122appendage development (GO:0048736)3.05186923
123low-density lipoprotein particle clearance (GO:0034383)3.04592547
124drug metabolic process (GO:0017144)3.02789322
125cell morphogenesis involved in neuron differentiation (GO:0048667)3.01355324
126regulation of female gonad development (GO:2000194)3.01186060
127bile acid and bile salt transport (GO:0015721)2.99859083
128response to phenylpropanoid (GO:0080184)2.99705557
129regulation of cholesterol homeostasis (GO:2000188)2.96438204
130negative regulation of keratinocyte proliferation (GO:0010839)2.96148955
131positive regulation of CREB transcription factor activity (GO:0032793)2.95335097
132nitrogen cycle metabolic process (GO:0071941)2.95284896
133androgen biosynthetic process (GO:0006702)2.93982416
134regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902547)2.92365908
135regulation of establishment or maintenance of cell polarity (GO:0032878)2.92141538
136behavioral response to ethanol (GO:0048149)2.90932940
137skeletal muscle adaptation (GO:0043501)2.90913782
138postsynaptic membrane organization (GO:0001941)2.90845695
139estrogen biosynthetic process (GO:0006703)2.90243895
140midgut development (GO:0007494)2.89713586
141cellular response to follicle-stimulating hormone stimulus (GO:0071372)2.88923421
142erythrose 4-phosphate/phosphoenolpyruvate family amino acid catabolic process (GO:1902222)2.87756614
143L-phenylalanine catabolic process (GO:0006559)2.87756614
144behavioral response to nicotine (GO:0035095)2.86962248
145plasma lipoprotein particle organization (GO:0071827)2.86492103
146ovulation cycle (GO:0042698)2.85578122
147mesonephros development (GO:0001823)2.83639679
148righting reflex (GO:0060013)2.83346647
149cellular modified amino acid catabolic process (GO:0042219)2.82176163
150bile acid biosynthetic process (GO:0006699)2.81645174
151aromatic amino acid family metabolic process (GO:0009072)2.80029120
152transmission of nerve impulse (GO:0019226)2.79182874
153L-phenylalanine metabolic process (GO:0006558)2.79002879
154erythrose 4-phosphate/phosphoenolpyruvate family amino acid metabolic process (GO:1902221)2.79002879
155negative regulation of mast cell activation (GO:0033004)2.78820481
156peptidyl-glutamic acid carboxylation (GO:0017187)2.78247704
157protein carboxylation (GO:0018214)2.78247704
158negative regulation of protein activation cascade (GO:2000258)2.77861403
159benzene-containing compound metabolic process (GO:0042537)2.77052561
160phospholipid homeostasis (GO:0055091)2.76955182
161protein-lipid complex subunit organization (GO:0071825)2.76664134
162sulfation (GO:0051923)2.76596387
163interkinetic nuclear migration (GO:0022027)2.76484338
164bile acid metabolic process (GO:0008206)2.73960838
165positive regulation of fatty acid oxidation (GO:0046321)2.73274062
166cilium movement (GO:0003341)2.72537820
167detection of mechanical stimulus involved in sensory perception (GO:0050974)2.71680038
168muscle atrophy (GO:0014889)2.71240865
169protein targeting to lysosome (GO:0006622)2.70863695
170establishment of protein localization to vacuole (GO:0072666)2.70863695
171protein targeting to vacuole (GO:0006623)2.70863695
172lysine metabolic process (GO:0006553)2.68335556
173lysine catabolic process (GO:0006554)2.68335556
174lipoprotein transport (GO:0042953)2.68092539
175cellular glucuronidation (GO:0052695)2.66638492
176metanephric mesenchyme development (GO:0072075)2.66279004
177regulation of protein activation cascade (GO:2000257)2.66040952
178regulation of vascular endothelial growth factor signaling pathway (GO:1900746)2.65231185
179adhesion of symbiont to host cell (GO:0044650)2.64692226
180virion attachment to host cell (GO:0019062)2.64692226
181complement activation, alternative pathway (GO:0006957)2.63168604
182aromatic amino acid family catabolic process (GO:0009074)2.62358052
183embryonic retina morphogenesis in camera-type eye (GO:0060059)2.61744857
184protein heterotrimerization (GO:0070208)2.61504957
185cellular response to cadmium ion (GO:0071276)2.61483467
186positive regulation of triglyceride metabolic process (GO:0090208)2.60330125
187fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)2.58704495
188lipid homeostasis (GO:0055088)2.58497818
189drug transmembrane transport (GO:0006855)2.58156249
190endocardial cushion development (GO:0003197)2.54511353
191bundle of His cell to Purkinje myocyte communication (GO:0086069)2.54064174
192regulation of complement activation (GO:0030449)2.53575584
193negative regulation of fibrinolysis (GO:0051918)2.53261037
194cysteine metabolic process (GO:0006534)2.51630331
195regulation of fatty acid beta-oxidation (GO:0031998)2.48092330
196C21-steroid hormone metabolic process (GO:0008207)2.47602631
197response to follicle-stimulating hormone (GO:0032354)2.47173869

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1ESR1_17901129_ChIP-ChIP_LIVER_Mouse4.36538842
2TRIM28_21343339_ChIP-Seq_HEK293_Human3.68597315
3VDR_22108803_ChIP-Seq_LS180_Human3.54416266
4TP63_17297297_ChIP-ChIP_HaCaT_Human3.26630089
5RXR_22158963_ChIP-Seq_LIVER_Mouse3.22071736
6GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse3.08867160
7LXR_22158963_ChIP-Seq_LIVER_Mouse2.97157912
8PPARG_19300518_ChIP-PET_3T3-L1_Mouse2.82342132
9* PPARA_22158963_ChIP-Seq_LIVER_Mouse2.71346386
10ZNF274_21170338_ChIP-Seq_K562_Hela2.51718261
11NR1I2_20693526_ChIP-Seq_LIVER_Mouse2.45406286
12IGF1R_20145208_ChIP-Seq_DFB_Human2.43589222
13CDX2_20551321_ChIP-Seq_CACO-2_Human2.38842406
14ZFP57_27257070_Chip-Seq_ESCs_Mouse2.31274347
15* SMARCD1_25818293_ChIP-Seq_ESCs_Mouse2.18050233
16CDX2_19796622_ChIP-Seq_MESCs_Mouse2.16982039
17GLI1_17442700_ChIP-ChIP_MESCs_Mouse2.16026444
18* STAT3_23295773_ChIP-Seq_U87_Human2.09586433
19POU3F2_20337985_ChIP-ChIP_501MEL_Human2.05145930
20CLOCK_20551151_ChIP-Seq_293T_Human2.03844010
21EGR1_23403033_ChIP-Seq_LIVER_Mouse2.03341306
22FOXO1_23066095_ChIP-Seq_LIVER_Mouse2.00507796
23TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse1.95238641
24CTBP1_25329375_ChIP-Seq_LNCAP_Human1.91851410
25NR3C1_21868756_ChIP-Seq_MCF10A_Human1.91648222
26ER_23166858_ChIP-Seq_MCF-7_Human1.90113148
27* ESR1_22446102_ChIP-Seq_UTERUS_Mouse1.88283341
28FLI1_27457419_Chip-Seq_LIVER_Mouse1.85571357
29SUZ12_18555785_ChIP-Seq_MESCs_Mouse1.85505060
30GBX2_23144817_ChIP-Seq_PC3_Human1.83818865
31EED_16625203_ChIP-ChIP_MESCs_Mouse1.80809404
32RNF2_18974828_ChIP-Seq_MESCs_Mouse1.80704540
33EZH2_18974828_ChIP-Seq_MESCs_Mouse1.80704540
34TAF15_26573619_Chip-Seq_HEK293_Human1.80612963
35* TCF4_23295773_ChIP-Seq_U87_Human1.79819465
36PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse1.76918648
37ZNF217_24962896_ChIP-Seq_MCF-7_Human1.74325180
38TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.73804741
39POU5F1_26923725_Chip-Seq_MESODERM_Mouse1.73804741
40SUZ12_18974828_ChIP-Seq_MESCs_Mouse1.73032336
41SUZ12_18692474_ChIP-Seq_MESCs_Mouse1.70917241
42SUZ12_18692474_ChIP-Seq_MEFs_Mouse1.68355797
43UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human1.66008479
44* SUZ12_16625203_ChIP-ChIP_MESCs_Mouse1.64284710
45PCGF2_27294783_Chip-Seq_ESCs_Mouse1.59539276
46PIAS1_25552417_ChIP-Seq_VCAP_Human1.58840377
47* EP300_21415370_ChIP-Seq_HL-1_Mouse1.46917158
48TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.46319295
49* JARID2_20075857_ChIP-Seq_MESCs_Mouse1.44209095
50IRF4_20064451_ChIP-Seq_CD4+T_Mouse1.42987312
51CBP_20019798_ChIP-Seq_JUKART_Human1.42987312
52SOX2_20726797_ChIP-Seq_SW620_Human1.40469282
53TCF4_18268006_ChIP-ChIP_LS174T_Human1.40427525
54MTF2_20144788_ChIP-Seq_MESCs_Mouse1.39985571
55BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human1.38870789
56PRDM14_20953172_ChIP-Seq_ESCs_Human1.37996695
57CEBPD_23245923_ChIP-Seq_MEFs_Mouse1.33291416
58EWS_26573619_Chip-Seq_HEK293_Human1.33229225
59KLF5_20875108_ChIP-Seq_MESCs_Mouse1.33121898
60PCGF2_27294783_Chip-Seq_NPCs_Mouse1.32920952
61NRF2_20460467_ChIP-Seq_MEFs_Mouse1.32268146
62NFE2L2_20460467_ChIP-Seq_MEFs_Mouse1.32268146
63* TCF4_22108803_ChIP-Seq_LS180_Human1.32094717
64EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human1.31906695
65PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse1.30925684
66REST_21632747_ChIP-Seq_MESCs_Mouse1.30432802
67SMAD4_21741376_ChIP-Seq_EPCs_Human1.30351527
68SUZ12_27294783_Chip-Seq_NPCs_Mouse1.29532876
69TP53_18474530_ChIP-ChIP_U2OS_Human1.29393127
70DROSHA_22980978_ChIP-Seq_HELA_Human1.29221698
71ESR1_21235772_ChIP-Seq_MCF-7_Human1.27745351
72ZFP322A_24550733_ChIP-Seq_MESCs_Mouse1.26048933
73EZH2_27304074_Chip-Seq_ESCs_Mouse1.26030682
74RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.25776914
75HNF4A_19761587_ChIP-ChIP_CACO-2_Human1.25606205
76SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.24166670
77FOXA2_19822575_ChIP-Seq_HepG2_Human1.24037682
78ESR1_20079471_ChIP-ChIP_T-47D_Human1.22892170
79CEBPB_26923725_Chip-Seq_MESODERM_Mouse1.21921229
80JARID2_20064375_ChIP-Seq_MESCs_Mouse1.21464741
81AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human1.20581541
82SOX2_27498859_Chip-Seq_STOMACH_Mouse1.20495286
83* TEAD4_22529382_ChIP-Seq_TROPHECTODERM_Mouse1.19544329
84AHR_22903824_ChIP-Seq_MCF-7_Human1.19254852
85* SUZ12_20075857_ChIP-Seq_MESCs_Mouse1.18945334
86NFE2_27457419_Chip-Seq_LIVER_Mouse1.17681017
87* RUNX2_22187159_ChIP-Seq_PCA_Human1.17107537
88CDX2_22108803_ChIP-Seq_LS180_Human1.16816050
89PPAR_26484153_Chip-Seq_NCI-H1993_Human1.15911318
90* PHC1_16625203_ChIP-ChIP_MESCs_Mouse1.15662445
91TP53_16413492_ChIP-PET_HCT116_Human1.15564610
92RXR_22108803_ChIP-Seq_LS180_Human1.15095844
93CJUN_26792858_Chip-Seq_BT549_Human1.14926221
94ESR2_21235772_ChIP-Seq_MCF-7_Human1.14772957
95BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse1.12933553
96TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.12354530
97ARNT_22903824_ChIP-Seq_MCF-7_Human1.12176499
98* AR_19668381_ChIP-Seq_PC3_Human1.11937492
99SALL4_18804426_ChIP-ChIP_XEN_Mouse1.11161972
100* SOX2_19829295_ChIP-Seq_ESCs_Human1.10832424
101* NANOG_19829295_ChIP-Seq_ESCs_Human1.10832424
102FOXA1_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human1.10744621
103PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.10510582
104BCAT_22108803_ChIP-Seq_LS180_Human1.10332278
105ERA_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human1.09997905
106* WT1_25993318_ChIP-Seq_PODOCYTE_Human1.09972759
107CTBP2_25329375_ChIP-Seq_LNCAP_Human1.09868973
108CHD7_19251738_ChIP-ChIP_MESCs_Mouse1.09511303
109TRIM28_17542650_ChIP-ChIP_NTERA2_Human1.08956690
110FUS_26573619_Chip-Seq_HEK293_Human1.08613421
111TFAP2C_20629094_ChIP-Seq_MCF-7_Human1.08567171
112FOXA1_21572438_ChIP-Seq_LNCaP_Human1.08549339
113RARG_19884340_ChIP-ChIP_MEFs_Mouse1.07994106
114ISL1_27105846_Chip-Seq_CPCs_Mouse1.07401201
115GATA4_25053715_ChIP-Seq_YYC3_Human1.07226016
116OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.06561710
117TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse1.06204334
118SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.05865313
119WT1_19549856_ChIP-ChIP_CCG9911_Human1.05772072
120FLI1_21867929_ChIP-Seq_TH2_Mouse1.05454671
121CDX2_21402776_ChIP-Seq_INTESTINAL-VILLUS_Mouse1.05325154
122* RNF2_16625203_ChIP-ChIP_MESCs_Mouse1.04944943
123EZH2_27294783_Chip-Seq_NPCs_Mouse1.03986003
124OCT1_27270436_Chip-Seq_PROSTATE_Human1.03420219
125RNF2_27304074_Chip-Seq_ESCs_Mouse1.03198563
126NR3C1_23031785_ChIP-Seq_PC12_Mouse1.02659122
127MEIS1_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse1.02025919
128* EZH2_27294783_Chip-Seq_ESCs_Mouse1.01672222
129* KDM2B_26808549_Chip-Seq_REH_Human1.01084427
130* MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse1.00420817
131SMAD3_21741376_ChIP-Seq_EPCs_Human1.00166213
132* JUN_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human0.99823660
133SMAD4_21799915_ChIP-Seq_A2780_Human0.99129978
134TP53_22573176_ChIP-Seq_HFKS_Human0.98636666
135SUZ12_27294783_Chip-Seq_ESCs_Mouse0.98442284
136CEBPD_21427703_ChIP-Seq_3T3-L1_Mouse0.98430407
137SMAD3_21741376_ChIP-Seq_HESCs_Human0.98414001
138* SMAD4_21741376_ChIP-Seq_HESCs_Human0.98325509
139P300_19829295_ChIP-Seq_ESCs_Human0.97457708
140CEBPA_23403033_ChIP-Seq_LIVER_Mouse0.97296587
141EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse0.97074400
142* SMAD3_21741376_ChIP-Seq_ESCs_Human0.96288633
143CRX_20693478_ChIP-Seq_RETINA_Mouse0.96142529
144IRF1_19129219_ChIP-ChIP_H3396_Human0.96056860
145SALL1_21062744_ChIP-ChIP_HESCs_Human0.95758559
146NANOG_18555785_Chip-Seq_ESCs_Mouse0.95390618
147STAT3_22323479_ChIP-Seq_MACROPHAGE_Mouse0.93677972
148STAT5_23275557_ChIP-Seq_MAMMARY-EPITHELIUM_Mouse0.93458190
149TCF21_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human0.93414128
150EZH2_22144423_ChIP-Seq_EOC_Human0.92888283
151TOP2B_26459242_ChIP-Seq_MCF-7_Human0.92306198
152* CTNNB1_20460455_ChIP-Seq_HCT116_Human0.91117133
153TCF7L2_21901280_ChIP-Seq_H4IIE_Rat0.90049564
154SMAD_19615063_ChIP-ChIP_OVARY_Human0.89785848
155FOXM1_26456572_ChIP-Seq_MCF-7_Human0.89614174
156HNF4A_19822575_ChIP-Seq_HepG2_Human0.88845621
157WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse0.88818620
158AR_21572438_ChIP-Seq_LNCaP_Human0.87421609
159* AR_25329375_ChIP-Seq_VCAP_Human0.87279910
160* SOX2_21211035_ChIP-Seq_LN229_Gbm0.85233202
161TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human0.84646981
162* TP63_23658742_ChIP-Seq_EP156T_Human0.84149654
163PPARG_20176806_ChIP-Seq_3T3-L1_Mouse0.82338382
164EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human0.82157157

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0005360_urolithiasis7.46705751
2MP0002139_abnormal_hepatobiliary_system5.34748898
3MP0001501_abnormal_sleep_pattern3.95777821
4MP0005085_abnormal_gallbladder_physiolo3.87846169
5MP0008875_abnormal_xenobiotic_pharmacok3.72793955
6MP0003646_muscle_fatigue3.61549351
7MP0008057_abnormal_DNA_replication3.58067438
8MP0008438_abnormal_cutaneous_collagen3.58019445
9MP0000569_abnormal_digit_pigmentation3.48707634
10MP0001666_abnormal_nutrient_absorption3.45361275
11MP0003252_abnormal_bile_duct3.43574005
12MP0005365_abnormal_bile_salt3.33404557
13MP0002736_abnormal_nociception_after3.02757701
14MP0005503_abnormal_tendon_morphology2.92483553
15MP0010329_abnormal_lipoprotein_level2.90885947
16MP0005551_abnormal_eye_electrophysiolog2.86540711
17MP0009046_muscle_twitch2.83667264
18MP0003705_abnormal_hypodermis_morpholog2.80743657
19MP0001968_abnormal_touch/_nociception2.78025464
20MP0003136_yellow_coat_color2.65524996
21MP0010368_abnormal_lymphatic_system2.40690383
22MP0005275_abnormal_skin_tensile2.30191844
23MP0001986_abnormal_taste_sensitivity2.25277177
24MP0000383_abnormal_hair_follicle2.24291406
25MP0005670_abnormal_white_adipose2.22816396
26MP0009384_cardiac_valve_regurgitation2.18597675
27MP0005423_abnormal_somatic_nervous2.12414110
28MP0004130_abnormal_muscle_cell2.11251401
29MP0004272_abnormal_basement_membrane2.10896697
30MP0003880_abnormal_central_pattern2.06209110
31MP0009745_abnormal_behavioral_response2.03657484
32MP0006276_abnormal_autonomic_nervous2.01501278
33MP0003950_abnormal_plasma_membrane1.95696795
34MP0000427_abnormal_hair_cycle1.91561583
35MP0004145_abnormal_muscle_electrophysio1.91405748
36MP0005253_abnormal_eye_physiology1.86339255
37MP0001486_abnormal_startle_reflex1.78730497
38MP0004019_abnormal_vitamin_homeostasis1.78050271
39MP0005310_abnormal_salivary_gland1.77308829
40MP0003195_calcinosis1.73930673
41MP0001485_abnormal_pinna_reflex1.71751804
42MP0008961_abnormal_basal_metabolism1.70575429
43MP0009840_abnormal_foam_cell1.69762199
44MP0001970_abnormal_pain_threshold1.69043800
45MP0005332_abnormal_amino_acid1.68619629
46MP0005167_abnormal_blood-brain_barrier1.67077915
47MP0006054_spinal_hemorrhage1.59585932
48MP0001984_abnormal_olfaction1.58928646
49MP0002733_abnormal_thermal_nociception1.57827551
50MP0008872_abnormal_physiological_respon1.55031593
51MP0009780_abnormal_chondrocyte_physiolo1.52544128
52MP0002064_seizures1.52186825
53MP0010234_abnormal_vibrissa_follicle1.51821291
54MP0003045_fibrosis1.50533884
55MP0000462_abnormal_digestive_system1.49774236
56MP0002272_abnormal_nervous_system1.47286760
57MP0000537_abnormal_urethra_morphology1.46680079
58MP0005266_abnormal_metabolism1.45307852
59MP0002735_abnormal_chemical_nociception1.44920292
60MP0002653_abnormal_ependyma_morphology1.43428118
61MP0004142_abnormal_muscle_tone1.42898205
62MP0005084_abnormal_gallbladder_morpholo1.42781817
63MP0002572_abnormal_emotion/affect_behav1.39864862
64MP0002638_abnormal_pupillary_reflex1.32071638
65MP0003879_abnormal_hair_cell1.31767004
66MP0003633_abnormal_nervous_system1.30719992
67MP0002067_abnormal_sensory_capabilities1.29989281
68MP0000534_abnormal_ureter_morphology1.29790402
69MP0009764_decreased_sensitivity_to1.26776058
70MP0000639_abnormal_adrenal_gland1.26062519
71MP0002118_abnormal_lipid_homeostasis1.24896907
72MP0009697_abnormal_copulation1.23977523
73MP0002734_abnormal_mechanical_nocicepti1.23039432
74MP0003941_abnormal_skin_development1.19035683
75* MP0003385_abnormal_body_wall1.15917990
76MP0005646_abnormal_pituitary_gland1.13382290
77MP0003191_abnormal_cellular_cholesterol1.12894709
78MP0003183_abnormal_peptide_metabolism1.11100731
79MP0004264_abnormal_extraembryonic_tissu1.11001656
80MP0005647_abnormal_sex_gland1.10852940
81MP0005174_abnormal_tail_pigmentation1.10234541
82MP0005367_renal/urinary_system_phenotyp1.09151309
83MP0000516_abnormal_urinary_system1.09151309
84MP0005248_abnormal_Harderian_gland1.08542964
85MP0005645_abnormal_hypothalamus_physiol1.07432277
86MP0004043_abnormal_pH_regulation1.06610100
87MP0006138_congestive_heart_failure1.05569742
88MP0005257_abnormal_intraocular_pressure1.04259419
89MP0002295_abnormal_pulmonary_circulatio1.03783737
90MP0002557_abnormal_social/conspecific_i1.03443641
91MP0001879_abnormal_lymphatic_vessel1.02966098
92MP0010678_abnormal_skin_adnexa1.02354023
93MP0001963_abnormal_hearing_physiology1.02222611
94MP0003631_nervous_system_phenotype1.01619059
95MP0005410_abnormal_fertilization1.01382814
96MP0005448_abnormal_energy_balance1.01352663
97MP0003635_abnormal_synaptic_transmissio1.00888222
98MP0002095_abnormal_skin_pigmentation1.00489897
99MP0003942_abnormal_urinary_system0.99881230
100MP0002229_neurodegeneration0.99352268
101MP0000609_abnormal_liver_physiology0.98263931
102MP0001958_emphysema0.95645665
103* MP0003115_abnormal_respiratory_system0.95295187
104MP0002254_reproductive_system_inflammat0.95242114
105MP0002332_abnormal_exercise_endurance0.94710548
106MP0009643_abnormal_urine_homeostasis0.94700641
107MP0002108_abnormal_muscle_morphology0.94595462
108* MP0000538_abnormal_urinary_bladder0.94151351
109MP0000230_abnormal_systemic_arterial0.94108234
110MP0010386_abnormal_urinary_bladder0.93800307
111MP0005319_abnormal_enzyme/_coenzyme0.93187409
112MP0002876_abnormal_thyroid_physiology0.92725135
113MP0006082_CNS_inflammation0.92022846
114MP0002090_abnormal_vision0.91413531
115* MP0009053_abnormal_anal_canal0.91122258
116MP0002060_abnormal_skin_morphology0.90227440
117MP0005386_behavior/neurological_phenoty0.88507365
118MP0004924_abnormal_behavior0.88507365
119MP0003632_abnormal_nervous_system0.87825490
120MP0005171_absent_coat_pigmentation0.87822617
121MP0003122_maternal_imprinting0.86023224
122MP0002138_abnormal_hepatobiliary_system0.85557369
123MP0005508_abnormal_skeleton_morphology0.84604019
124MP0002896_abnormal_bone_mineralization0.82534196
125MP0005195_abnormal_posterior_eye0.79670145
126MP0003718_maternal_effect0.79208675
127MP0003698_abnormal_male_reproductive0.78405352
128MP0000470_abnormal_stomach_morphology0.78386918
129MP0003300_gastrointestinal_ulcer0.77954145
130MP0002063_abnormal_learning/memory/cond0.77951395
131MP0004883_abnormal_blood_vessel0.77758214
132* MP0009250_abnormal_appendicular_skeleto0.77683771
133MP0002249_abnormal_larynx_morphology0.77669562
134MP0002089_abnormal_postnatal_growth/wei0.77516539
135MP0008775_abnormal_heart_ventricle0.77324903
136MP0004036_abnormal_muscle_relaxation0.76892411
137MP0000371_diluted_coat_color0.76879334
138MP0005377_hearing/vestibular/ear_phenot0.76732773
139MP0003878_abnormal_ear_physiology0.76732773
140MP0005584_abnormal_enzyme/coenzyme_acti0.75815516
141MP0009379_abnormal_foot_pigmentation0.75461925
142MP0002837_dystrophic_cardiac_calcinosis0.74800513
143MP0000566_synostosis0.74446876
144MP0005636_abnormal_mineral_homeostasis0.72372887
145MP0002168_other_aberrant_phenotype0.71634984
146MP0004233_abnormal_muscle_weight0.71098470
147MP0000767_abnormal_smooth_muscle0.71080983
148MP0004742_abnormal_vestibular_system0.70796814
149MP0000467_abnormal_esophagus_morphology0.69871144
150MP0004215_abnormal_myocardial_fiber0.69633861
151MP0004147_increased_porphyrin_level0.69169126
152MP0003279_aneurysm0.67623386
153MP0001664_abnormal_digestion0.67187083
154MP0002928_abnormal_bile_duct0.66987339
155MP0002882_abnormal_neuron_morphology0.66585867
156MP0001177_atelectasis0.66431464
157MP0001756_abnormal_urination0.66380202
158MP0003638_abnormal_response/metabolism_0.65956127
159MP0001765_abnormal_ion_homeostasis0.64255870
160MP0000163_abnormal_cartilage_morphology0.62864267
161MP0005381_digestive/alimentary_phenotyp0.59250924
162MP0002971_abnormal_brown_adipose0.59245598
163MP0009115_abnormal_fat_cell0.58486335
164MP0005595_abnormal_vascular_smooth0.58321493
165MP0005623_abnormal_meninges_morphology0.58181370
166MP0000049_abnormal_middle_ear0.56211580
167MP0002822_catalepsy0.55868128
168MP0002796_impaired_skin_barrier0.55668177
169MP0002909_abnormal_adrenal_gland0.55173015
170MP0005334_abnormal_fat_pad0.55106857
171MP0010030_abnormal_orbit_morphology0.54736823
172MP0005187_abnormal_penis_morphology0.54415658
173MP0000579_abnormal_nail_morphology0.54258581
174* MP0002115_abnormal_skeleton_extremities0.54042659
175MP0004484_altered_response_of0.52857950
176MP0002282_abnormal_trachea_morphology0.51462305
177MP0005023_abnormal_wound_healing0.50735017
178MP0001764_abnormal_homeostasis0.50512939
179MP0003091_abnormal_cell_migration0.48939760

Predicted human phenotypes

RankGene SetZ-score
1Genetic anticipation (HP:0003743)6.53620776
2Increased neuronal autofluorescent lipopigment (HP:0002074)6.24892039
3Intracellular accumulation of autofluorescent lipopigment storage material (HP:0003204)6.15673133
4Increased cerebral lipofuscin (HP:0011813)5.45383640
5Abnormality of binocular vision (HP:0011514)5.33466617
6Diplopia (HP:0000651)5.33466617
7Hypobetalipoproteinemia (HP:0003563)5.32413957
8Abnormality of glutamine family amino acid metabolism (HP:0010902)5.16679586
9Progressive cerebellar ataxia (HP:0002073)4.67225497
10Protrusio acetabuli (HP:0003179)4.63602776
11Pancreatic cysts (HP:0001737)4.49308958
12Gaze-evoked nystagmus (HP:0000640)4.44197896
13Premature rupture of membranes (HP:0001788)4.17532137
14Ileus (HP:0002595)4.15220762
15Xanthomatosis (HP:0000991)4.14715591
16Clumsiness (HP:0002312)4.11561246
17Hypolipoproteinemia (HP:0010981)3.95217093
18Abnormality of proline metabolism (HP:0010907)3.93838771
19Hydroxyprolinuria (HP:0003080)3.93838771
20Attenuation of retinal blood vessels (HP:0007843)3.89386715
21Hyperventilation (HP:0002883)3.81121978
22Epidermoid cyst (HP:0200040)3.76792819
23Pancreatic fibrosis (HP:0100732)3.73661893
24Acanthocytosis (HP:0001927)3.69788824
25Conjugated hyperbilirubinemia (HP:0002908)3.66700091
26Dysmetric saccades (HP:0000641)3.63065144
27Deep venous thrombosis (HP:0002625)3.59585862
28True hermaphroditism (HP:0010459)3.55971819
29Intrahepatic cholestasis (HP:0001406)3.46276008
30Right ventricular cardiomyopathy (HP:0011663)3.45971143
31Protruding tongue (HP:0010808)3.39755505
32Congenital stationary night blindness (HP:0007642)3.39576542
33Aplasia/Hypoplasia of the tibia (HP:0005772)3.32067331
34Mesangial abnormality (HP:0001966)3.29342695
35Central scotoma (HP:0000603)3.26756951
36Congenital sensorineural hearing impairment (HP:0008527)3.25399141
37Abnormality of the level of lipoprotein cholesterol (HP:0010979)3.24050317
38Medial flaring of the eyebrow (HP:0010747)3.23776534
39Malnutrition (HP:0004395)3.23176863
40Fat malabsorption (HP:0002630)3.20588692
41Potter facies (HP:0002009)3.19232568
42Facial shape deformation (HP:0011334)3.19232568
43Bony spicule pigmentary retinopathy (HP:0007737)3.17560223
44Cystic liver disease (HP:0006706)3.14491544
45Abnormality of monocarboxylic acid metabolism (HP:0010996)3.10853224
46Broad metatarsal (HP:0001783)3.05396610
47Abolished electroretinogram (ERG) (HP:0000550)3.05275462
48Gait imbalance (HP:0002141)3.05122102
49Congenital primary aphakia (HP:0007707)3.01920341
50Large for gestational age (HP:0001520)3.01678839
51Hypoalphalipoproteinemia (HP:0003233)2.92274325
52Pigmentary retinal degeneration (HP:0001146)2.88084830
53Facial diplegia (HP:0001349)2.86759870
54Fragile skin (HP:0001030)2.83092122
55Hyperglycinuria (HP:0003108)2.81688087
56Soft skin (HP:0000977)2.79904724
57Abnormality of the ischium (HP:0003174)2.78641525
58Hemiplegia (HP:0002301)2.78176813
59Hypoplastic ischia (HP:0003175)2.74880489
60Aortic dissection (HP:0002647)2.74848325
61Chronic hepatic failure (HP:0100626)2.72150783
62Hemiparesis (HP:0001269)2.69303756
63Skin nodule (HP:0200036)2.68844898
64Molar tooth sign on MRI (HP:0002419)2.68389717
65Abnormality of midbrain morphology (HP:0002418)2.68389717
66Focal segmental glomerulosclerosis (HP:0000097)2.68057189
67Nephrogenic diabetes insipidus (HP:0009806)2.65566336
68Atrophic scars (HP:0001075)2.65492955
69Hypercholesterolemia (HP:0003124)2.65405932
70Abnormality of alanine metabolism (HP:0010916)2.60186740
71Hyperalaninemia (HP:0003348)2.60186740
72Abnormality of pyruvate family amino acid metabolism (HP:0010915)2.60186740
73Abnormality of the renal cortex (HP:0011035)2.59935077
74Enlarged penis (HP:0000040)2.56924173
75Abnormality of aspartate family amino acid metabolism (HP:0010899)2.53441102
76Complement deficiency (HP:0004431)2.53156792
77Mildly elevated creatine phosphokinase (HP:0008180)2.51334117
78Hepatoblastoma (HP:0002884)2.51128529
79Lymphangioma (HP:0100764)2.50199494
80Peritonitis (HP:0002586)2.48819970
81Shallow orbits (HP:0000586)2.47009647
82Vaginal atresia (HP:0000148)2.45475607
83Abnormality of purine metabolism (HP:0004352)2.44278388
84Abnormality of glycine metabolism (HP:0010895)2.42480767
85Abnormality of serine family amino acid metabolism (HP:0010894)2.42480767
86Genital tract atresia (HP:0001827)2.42423778
87Decreased electroretinogram (ERG) amplitude (HP:0000654)2.41359676
88Widely patent fontanelles and sutures (HP:0004492)2.40679220
89Decreased circulating renin level (HP:0003351)2.40135279
90Sclerocornea (HP:0000647)2.39948369
91Nephronophthisis (HP:0000090)2.39637398
92Aplasia/Hypoplasia of the pubic bone (HP:0009104)2.38944759
93Birth length less than 3rd percentile (HP:0003561)2.38871936
94Broad foot (HP:0001769)2.38323767
95Focal seizures (HP:0007359)2.37773682
96Dialeptic seizures (HP:0011146)2.35248448
97Preaxial foot polydactyly (HP:0001841)2.33986970
98Inability to walk (HP:0002540)2.32839968
99Rectal prolapse (HP:0002035)2.32275347
100Progressive visual loss (HP:0000529)2.32254526
101Poor coordination (HP:0002370)2.30614403
102Abnormality of the renal medulla (HP:0100957)2.30043844
103Mitral valve prolapse (HP:0001634)2.26878244
104Tubular atrophy (HP:0000092)2.26319116
105Abnormality of sulfur amino acid metabolism (HP:0004339)2.25744338
106Furrowed tongue (HP:0000221)2.25655205
107Abnormality of aromatic amino acid family metabolism (HP:0004338)2.25627226
108Hyperammonemia (HP:0001987)2.25024949
109Abnormal biliary tract physiology (HP:0012439)2.24626359
110Bile duct proliferation (HP:0001408)2.24626359
111Abnormal drinking behavior (HP:0030082)2.23774980
112Polydipsia (HP:0001959)2.23774980
113Increased corneal curvature (HP:0100692)2.22024026
114Keratoconus (HP:0000563)2.22024026
115Cardiovascular calcification (HP:0011915)2.20072012
116Impaired smooth pursuit (HP:0007772)2.19919262
117Absent speech (HP:0001344)2.19625773
118Absence seizures (HP:0002121)2.18404188
119Wide anterior fontanel (HP:0000260)2.18388869
120Fair hair (HP:0002286)2.18361894
121Turricephaly (HP:0000262)2.17576472
122Congenital, generalized hypertrichosis (HP:0004540)2.15727418
123Neonatal short-limb short stature (HP:0008921)2.15604625
124Urinary bladder sphincter dysfunction (HP:0002839)2.15361389
125Congenital hepatic fibrosis (HP:0002612)2.15231784
126Abnormal ciliary motility (HP:0012262)2.15188049
127Glomerulosclerosis (HP:0000096)2.14085811
128Mitral stenosis (HP:0001718)2.13870430
129Ankle contracture (HP:0006466)2.13461761
130Nephrolithiasis (HP:0000787)2.13160119
131Scotoma (HP:0000575)2.10996801
132Aplasia/Hypoplasia of the tongue (HP:0010295)2.09423326
133Progressive inability to walk (HP:0002505)2.09353416
134Coronal craniosynostosis (HP:0004440)2.09328287
135Patellar aplasia (HP:0006443)2.09306895
136Short foot (HP:0001773)2.07831973
137Aortic aneurysm (HP:0004942)2.06314423
138Postural instability (HP:0002172)2.05436903
139Chorioretinal atrophy (HP:0000533)2.05433737
140Prolonged partial thromboplastin time (HP:0003645)2.05267333
141Decreased central vision (HP:0007663)2.05149582
142Aplasia/Hypoplasia of the lens (HP:0008063)2.03410286
143Abnormal delivery (HP:0001787)2.03030407
144Cerebellar dysplasia (HP:0007033)2.02490849
145Biconcave vertebral bodies (HP:0004586)2.01741243
146Enlarged kidneys (HP:0000105)2.00364812
147Abnormality of the common coagulation pathway (HP:0010990)2.00226193
148Febrile seizures (HP:0002373)1.99637502
149Hyperextensible skin (HP:0000974)1.99253374
150Difficulty walking (HP:0002355)1.97391818
151Dysautonomia (HP:0002459)1.96284201
152Nonimmune hydrops fetalis (HP:0001790)1.95671626
153Bladder diverticulum (HP:0000015)1.94855337
154Increased mean platelet volume (HP:0011877)1.94762194
155Absent/shortened dynein arms (HP:0200106)1.93795969
156Dynein arm defect of respiratory motile cilia (HP:0012255)1.93795969
157Type II lissencephaly (HP:0007260)1.93318896
158Abnormal cartilage morphology (HP:0002763)1.93162336
159Retinitis pigmentosa (HP:0000510)1.92216063
160Increased connective tissue (HP:0009025)1.90661932
161Constricted visual fields (HP:0001133)1.87764333
162Atonic seizures (HP:0010819)1.87389345
163Nephritis (HP:0000123)1.87218916
164Abnormality of complement system (HP:0005339)1.85437927
165Retinal dysplasia (HP:0007973)1.85191105
166Abnormality of nucleobase metabolism (HP:0010932)1.84114945
167Aplasia/Hypoplasia of the patella (HP:0006498)1.83141257
168Wide cranial sutures (HP:0010537)1.82808891
169Cupped ribs (HP:0000887)1.82508681
170Shawl scrotum (HP:0000049)1.82340143
171Overgrowth (HP:0001548)1.82147988
172Abnormality of the pubic bones (HP:0003172)1.81600362
173Gastrointestinal dysmotility (HP:0002579)1.81136980
174Ketoacidosis (HP:0001993)1.80607152
175Vascular calcification (HP:0004934)1.80154088
176Poikilocytosis (HP:0004447)1.79491989
177Poikiloderma (HP:0001029)1.78927737
178Hypopigmentation of the fundus (HP:0007894)1.78667730
179Left ventricular hypertrophy (HP:0001712)1.78239545
180Progressive sensorineural hearing impairment (HP:0000408)1.77273587
181Alopecia of scalp (HP:0002293)1.74549121
182Spontaneous abortion (HP:0005268)1.73103444
183Bronchomalacia (HP:0002780)1.71679608
184Follicular hyperkeratosis (HP:0007502)1.71580812
185Hepatocellular carcinoma (HP:0001402)1.70844408
186Ketosis (HP:0001946)1.69773429
187Hyperuricemia (HP:0002149)1.67484389
188Increased purine levels (HP:0004368)1.67484389
189Blue sclerae (HP:0000592)1.67480104
190Ectopia lentis (HP:0001083)1.66037716
191Hyperlipoproteinemia (HP:0010980)1.66000420
192Cerebral aneurysm (HP:0004944)1.65825238
193Hypoglycemic coma (HP:0001325)1.65542925
194Dilatation of the ascending aorta (HP:0005111)1.65414849
195Abdominal distention (HP:0003270)1.62818422
196Hyperaldosteronism (HP:0000859)1.62195486

Predicted kinase interactions (KEA)

RankGene SetZ-score
1FRK4.98681760
2EPHB23.92457438
3LMTK23.89105136
4AKT33.77501699
5ACVR1B3.23008247
6LATS12.65905292
7MST1R2.65176848
8BMPR1B2.64324221
9ADRBK22.61588873
10RIPK12.37226995
11DDR22.08661540
12LATS22.07955598
13FER1.96196667
14NUAK11.96146631
15SIK11.91879768
16ERN11.88099829
17MYLK1.74579593
18PDGFRA1.74445595
19PRKG21.68198043
20EPHA31.67748937
21MAP3K41.64392149
22MKNK21.58832387
23TNK21.55370853
24PTK2B1.55196435
25PTK61.54643571
26TRIB31.54013694
27PIK3CA1.51334945
28CASK1.50993185
29DAPK21.47347573
30GRK11.40055161
31MAP2K41.36896146
32MET1.31729708
33INSRR1.30312160
34PTK21.25932969
35PLK21.24879609
36TIE11.24119486
37MAP2K71.21104932
38MST41.16608317
39BMX1.13472752
40NME11.11734805
41MAP3K71.06224216
42ERBB41.06039319
43TAOK31.05367858
44SIK21.05042067
45ERBB21.04466355
46ZAK1.02377008
47NEK91.00596807
48FGFR40.99757661
49WNK40.97783456
50FGFR20.96210599
51PAK30.93382776
52NEK20.92904134
53STK38L0.92353482
54GRK60.92166645
55PKN10.90336026
56DMPK0.89013881
57TGFBR10.87490983
58MAP3K20.86524060
59STK380.85479349
60MAP3K60.84917862
61FGFR10.81313378
62MAP3K90.79306415
63MAPK130.77843521
64PRKAA20.76856875
65SGK30.76633422
66TRPM70.75666482
67CAMK1D0.75636882
68MAP3K100.75468982
69ROCK10.75291902
70NEK60.71900785
71TEC0.71729195
72MINK10.70644503
73SGK20.69811463
74KIT0.67110943
75NTRK30.66987374
76OXSR10.66976191
77KSR10.66786176
78PAK40.66535565
79PKN20.66247390
80PDK20.65902810
81MAP2K10.64499191
82DYRK1B0.63759394
83MAP4K20.63681844
84RET0.63308284
85PINK10.61999508
86CDK120.61788283
87MKNK10.59835255
88CAMK1G0.56624503
89PRKCE0.56394817
90ITK0.55791182
91MAP3K120.54405852
92CAMK10.54339067
93PDGFRB0.54287890
94MAPKAPK30.53909393
95STK30.53703272
96BCKDK0.53415891
97IKBKB0.52833040
98WNK30.52279204
99BRAF0.52162211
100LIMK10.52054840
101PDK10.50576541
102KSR20.48464398
103MUSK0.47984286
104CHUK0.46979954
105MAPK110.45491227
106SGK4940.45212014
107SGK2230.45212014
108TXK0.44311508
109RPS6KA60.43766721
110EPHA40.43157460
111BCR0.42083583
112MELK0.41902062
113PRKCZ0.41812054
114SRC0.41578911
115NTRK20.41186335
116PRKCG0.40772315
117MARK10.39575398
118EEF2K0.39305769
119PIK3CG0.38476068
120GSK3A0.38061126
121PDPK10.37888340
122SIK30.37292328
123CAMK2A0.36688794
124PRKCH0.35864855
125ADRBK10.35258575
126MAPK70.35144529
127TYRO30.34822005
128PRKACG0.34801353
129CDC42BPA0.34501792
130TAOK10.33106476
131RPS6KA50.33081110
132PRKAA10.32198258
133CSNK1D0.32099871
134BTK0.31233760
135MAPKAPK50.31035124
136PRKACB0.30947969
137PRKD30.30734579
138IGF1R0.28823470
139IRAK10.28530095
140STK390.28404419
141BLK0.28392789
142PRKACA0.28154495
143CDK190.28009701
144CAMK40.27919233
145PRKCA0.27279872
146CHEK20.26961654
147PDK30.26875433
148PDK40.26875433
149JAK10.25858469
150SGK10.25622532
151CAMKK10.24572394
152RPS6KA30.24254866
153SYK0.24092749
154TLK10.23896691
155PRKCB0.23362221
156MAPK10.23252410
157GSK3B0.22151352
158LCK0.22137001
159OBSCN0.22040520
160PRKCQ0.21684577

Predicted pathways (KEGG)

RankGene SetZ-score
1Fat digestion and absorption_Homo sapiens_hsa049753.35072543
2Ascorbate and aldarate metabolism_Homo sapiens_hsa000532.63577920
3Nitrogen metabolism_Homo sapiens_hsa009102.61595977
4Vitamin digestion and absorption_Homo sapiens_hsa049772.46943093
5Arginine biosynthesis_Homo sapiens_hsa002202.32679955
6Renin-angiotensin system_Homo sapiens_hsa046142.31902116
7Steroid hormone biosynthesis_Homo sapiens_hsa001402.27056432
8Tryptophan metabolism_Homo sapiens_hsa003802.25897016
9Nicotine addiction_Homo sapiens_hsa050332.23743982
10Caffeine metabolism_Homo sapiens_hsa002322.22580791
11Primary bile acid biosynthesis_Homo sapiens_hsa001202.17865697
12Fatty acid degradation_Homo sapiens_hsa000712.15562534
13Butirosin and neomycin biosynthesis_Homo sapiens_hsa005242.15094155
14Bile secretion_Homo sapiens_hsa049762.08467571
15Phototransduction_Homo sapiens_hsa047442.06037075
16Starch and sucrose metabolism_Homo sapiens_hsa005002.04739393
17Linoleic acid metabolism_Homo sapiens_hsa005911.98948671
18PPAR signaling pathway_Homo sapiens_hsa033201.98690239
19alpha-Linolenic acid metabolism_Homo sapiens_hsa005921.97508600
20Olfactory transduction_Homo sapiens_hsa047401.96519229
21Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010401.87237240
22Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049641.79145376
23Protein digestion and absorption_Homo sapiens_hsa049741.77761990
24Taste transduction_Homo sapiens_hsa047421.76994527
25Mineral absorption_Homo sapiens_hsa049781.74040974
26Histidine metabolism_Homo sapiens_hsa003401.70062858
27Neuroactive ligand-receptor interaction_Homo sapiens_hsa040801.68990780
28Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006301.66090096
29Butanoate metabolism_Homo sapiens_hsa006501.64131092
30Drug metabolism - cytochrome P450_Homo sapiens_hsa009821.62771556
312-Oxocarboxylic acid metabolism_Homo sapiens_hsa012101.61364720
32Sulfur metabolism_Homo sapiens_hsa009201.61021272
33Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004001.60476048
34Fatty acid metabolism_Homo sapiens_hsa012121.58954037
35Morphine addiction_Homo sapiens_hsa050321.57445256
36Valine, leucine and isoleucine degradation_Homo sapiens_hsa002801.52650827
37Pentose and glucuronate interconversions_Homo sapiens_hsa000401.44341285
38Complement and coagulation cascades_Homo sapiens_hsa046101.41440414
39Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009801.38755710
40Glutamatergic synapse_Homo sapiens_hsa047241.36396237
41Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006041.35675719
42Galactose metabolism_Homo sapiens_hsa000521.35390618
43Synthesis and degradation of ketone bodies_Homo sapiens_hsa000721.34914634
44Homologous recombination_Homo sapiens_hsa034401.34886343
45Ether lipid metabolism_Homo sapiens_hsa005651.33697647
46Chemical carcinogenesis_Homo sapiens_hsa052041.32736092
47Circadian entrainment_Homo sapiens_hsa047131.30412666
48Peroxisome_Homo sapiens_hsa041461.29143167
49Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006031.28295293
50Calcium signaling pathway_Homo sapiens_hsa040201.27981510
51Propanoate metabolism_Homo sapiens_hsa006401.26442083
52Pyruvate metabolism_Homo sapiens_hsa006201.24159659
53Pantothenate and CoA biosynthesis_Homo sapiens_hsa007701.22006877
54Carbohydrate digestion and absorption_Homo sapiens_hsa049731.21931296
55beta-Alanine metabolism_Homo sapiens_hsa004101.21842181
56One carbon pool by folate_Homo sapiens_hsa006701.18060032
57Retrograde endocannabinoid signaling_Homo sapiens_hsa047231.16114709
58GABAergic synapse_Homo sapiens_hsa047271.12473660
59Citrate cycle (TCA cycle)_Homo sapiens_hsa000201.12376622
60Folate biosynthesis_Homo sapiens_hsa007901.11402096
61Retinol metabolism_Homo sapiens_hsa008301.07270342
62Phenylalanine metabolism_Homo sapiens_hsa003601.03999651
63Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005631.01436661
64Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005201.01078403
65Tyrosine metabolism_Homo sapiens_hsa003500.99894457
66Glycine, serine and threonine metabolism_Homo sapiens_hsa002600.99864483
67Serotonergic synapse_Homo sapiens_hsa047260.99841290
68ECM-receptor interaction_Homo sapiens_hsa045120.97432415
69Lysine degradation_Homo sapiens_hsa003100.96866046
70Intestinal immune network for IgA production_Homo sapiens_hsa046720.96822272
71Vascular smooth muscle contraction_Homo sapiens_hsa042700.96658770
72Maturity onset diabetes of the young_Homo sapiens_hsa049500.96350267
73Taurine and hypotaurine metabolism_Homo sapiens_hsa004300.94729235
74Ovarian steroidogenesis_Homo sapiens_hsa049130.93978407
75Glycerolipid metabolism_Homo sapiens_hsa005610.92272516
76Glutathione metabolism_Homo sapiens_hsa004800.90414015
77Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.90230296
78Aldosterone synthesis and secretion_Homo sapiens_hsa049250.90018006
79Glycerophospholipid metabolism_Homo sapiens_hsa005640.87944281
80Cyanoamino acid metabolism_Homo sapiens_hsa004600.86465188
81Arginine and proline metabolism_Homo sapiens_hsa003300.84693429
82Carbon metabolism_Homo sapiens_hsa012000.82380882
83Dorso-ventral axis formation_Homo sapiens_hsa043200.77534800
84ABC transporters_Homo sapiens_hsa020100.75425287
85Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.72047560
86Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.70470704
87Drug metabolism - other enzymes_Homo sapiens_hsa009830.69915870
88Cholinergic synapse_Homo sapiens_hsa047250.69815380
89Graft-versus-host disease_Homo sapiens_hsa053320.69567638
90Fatty acid biosynthesis_Homo sapiens_hsa000610.69513188
91Sphingolipid metabolism_Homo sapiens_hsa006000.68247974
92Steroid biosynthesis_Homo sapiens_hsa001000.67868388
93Arachidonic acid metabolism_Homo sapiens_hsa005900.65208048
94Glycolysis / Gluconeogenesis_Homo sapiens_hsa000100.65073361
95Insulin secretion_Homo sapiens_hsa049110.62788909
96Oxytocin signaling pathway_Homo sapiens_hsa049210.61149033
97Phosphatidylinositol signaling system_Homo sapiens_hsa040700.61147928
98cAMP signaling pathway_Homo sapiens_hsa040240.60401538
99Renin secretion_Homo sapiens_hsa049240.59473640
100Fructose and mannose metabolism_Homo sapiens_hsa000510.56738379
101Long-term depression_Homo sapiens_hsa047300.54906132
102Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005340.54804749
103Phospholipase D signaling pathway_Homo sapiens_hsa040720.53900838
104Thyroid hormone synthesis_Homo sapiens_hsa049180.53621620
105Asthma_Homo sapiens_hsa053100.53367892
106Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.53330220
107Fatty acid elongation_Homo sapiens_hsa000620.50980115
108Biosynthesis of amino acids_Homo sapiens_hsa012300.50651344
109Choline metabolism in cancer_Homo sapiens_hsa052310.50214254
110Lysosome_Homo sapiens_hsa041420.49737353
111Estrogen signaling pathway_Homo sapiens_hsa049150.48477697
112Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054120.47766298
113Fanconi anemia pathway_Homo sapiens_hsa034600.47710135
114Bladder cancer_Homo sapiens_hsa052190.43721377
115Staphylococcus aureus infection_Homo sapiens_hsa051500.42877192
116Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047500.41690024
117Focal adhesion_Homo sapiens_hsa045100.41242171
118Selenocompound metabolism_Homo sapiens_hsa004500.37390100
119N-Glycan biosynthesis_Homo sapiens_hsa005100.37025969
120Amoebiasis_Homo sapiens_hsa051460.36820347
121Axon guidance_Homo sapiens_hsa043600.36754340
122Platelet activation_Homo sapiens_hsa046110.36427830
123Adherens junction_Homo sapiens_hsa045200.35431222
124Tight junction_Homo sapiens_hsa045300.35006828
125Pancreatic secretion_Homo sapiens_hsa049720.34456782
126Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001300.33627862
127Insulin resistance_Homo sapiens_hsa049310.33075299
128Sulfur relay system_Homo sapiens_hsa041220.32879636
129cGMP-PKG signaling pathway_Homo sapiens_hsa040220.32367091
130Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006010.31988400
131Ras signaling pathway_Homo sapiens_hsa040140.31889655
132Type II diabetes mellitus_Homo sapiens_hsa049300.31571954
133Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.30215517
134Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049610.29717151
135Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049600.27685357
136Central carbon metabolism in cancer_Homo sapiens_hsa052300.26550346
137Inflammatory bowel disease (IBD)_Homo sapiens_hsa053210.26549036
138Melanogenesis_Homo sapiens_hsa049160.26177224
139Gap junction_Homo sapiens_hsa045400.25631436
140Basal cell carcinoma_Homo sapiens_hsa052170.25621558
141Dopaminergic synapse_Homo sapiens_hsa047280.25171349
142Vasopressin-regulated water reabsorption_Homo sapiens_hsa049620.24588739
143Gastric acid secretion_Homo sapiens_hsa049710.24102158
144Hippo signaling pathway_Homo sapiens_hsa043900.23001601
145Cysteine and methionine metabolism_Homo sapiens_hsa002700.20181705
146Salivary secretion_Homo sapiens_hsa049700.18030648
147TGF-beta signaling pathway_Homo sapiens_hsa043500.17907462
148Proteoglycans in cancer_Homo sapiens_hsa052050.17673393
149Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008600.17533938
150GnRH signaling pathway_Homo sapiens_hsa049120.16725843

Most similar genes based on co-expression Upload to Enrichr

Tissue Expression Export image »

Cell Line Expression Export image »