CYP2R1

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 cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This enzyme is a microsomal vitamin D hydroxylase that converts vitamin D into the active ligand for the vitamin D receptor. A mutation in this gene has been associated with selective 25-hydroxyvitamin D deficiency. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1erythrose 4-phosphate/phosphoenolpyruvate family amino acid catabolic process (GO:1902222)7.45902044
2L-phenylalanine catabolic process (GO:0006559)7.45902044
3erythrose 4-phosphate/phosphoenolpyruvate family amino acid metabolic process (GO:1902221)7.12864715
4L-phenylalanine metabolic process (GO:0006558)7.12864715
5aromatic amino acid family catabolic process (GO:0009074)6.82857762
6tryptophan catabolic process (GO:0006569)6.26564708
7indole-containing compound catabolic process (GO:0042436)6.26564708
8indolalkylamine catabolic process (GO:0046218)6.26564708
9bile acid biosynthetic process (GO:0006699)6.11223440
10kynurenine metabolic process (GO:0070189)6.02044542
11triglyceride-rich lipoprotein particle remodeling (GO:0034370)5.97084347
12tryptophan metabolic process (GO:0006568)5.86004691
13urea metabolic process (GO:0019627)5.85371710
14urea cycle (GO:0000050)5.85371710
15alpha-linolenic acid metabolic process (GO:0036109)5.58955132
16complement activation, alternative pathway (GO:0006957)5.57763956
17glyoxylate metabolic process (GO:0046487)5.57634684
18regulation of protein activation cascade (GO:2000257)5.49532201
19nitrogen cycle metabolic process (GO:0071941)5.39241632
20negative regulation of fibrinolysis (GO:0051918)5.36714108
21regulation of meiosis I (GO:0060631)5.33537714
22regulation of fibrinolysis (GO:0051917)5.28998680
23protein carboxylation (GO:0018214)5.24656862
24peptidyl-glutamic acid carboxylation (GO:0017187)5.24656862
25regulation of complement activation (GO:0030449)5.18245272
26sulfur amino acid catabolic process (GO:0000098)5.15878925
27bile acid metabolic process (GO:0008206)5.14232564
28high-density lipoprotein particle remodeling (GO:0034375)5.12970385
29cysteine metabolic process (GO:0006534)5.10443119
30gonadal mesoderm development (GO:0007506)5.09875072
31piRNA metabolic process (GO:0034587)5.05199483
32serine family amino acid catabolic process (GO:0009071)5.01719986
33homocysteine metabolic process (GO:0050667)4.99392256
34resolution of meiotic recombination intermediates (GO:0000712)4.96931931
35fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)4.89348004
36aromatic amino acid family metabolic process (GO:0009072)4.88133504
37regulation of triglyceride catabolic process (GO:0010896)4.85708505
38synapsis (GO:0007129)4.67588300
39tyrosine metabolic process (GO:0006570)4.64091445
40monoubiquitinated protein deubiquitination (GO:0035520)4.59139926
41alpha-amino acid catabolic process (GO:1901606)4.56517684
42amino-acid betaine metabolic process (GO:0006577)4.53149032
43glycine metabolic process (GO:0006544)4.47823689
44DNA double-strand break processing (GO:0000729)4.46011667
45regulation of cholesterol esterification (GO:0010872)4.42848288
46protein-lipid complex remodeling (GO:0034368)4.42692529
47macromolecular complex remodeling (GO:0034367)4.42692529
48plasma lipoprotein particle remodeling (GO:0034369)4.42692529
49negative regulation of sterol transport (GO:0032372)4.41963466
50negative regulation of cholesterol transport (GO:0032375)4.41963466
51reverse cholesterol transport (GO:0043691)4.41859883
52bile acid and bile salt transport (GO:0015721)4.41329339
53amine catabolic process (GO:0009310)4.38886529
54cellular biogenic amine catabolic process (GO:0042402)4.38886529
55triglyceride homeostasis (GO:0070328)4.37379027
56acylglycerol homeostasis (GO:0055090)4.37379027
57phospholipid efflux (GO:0033700)4.36931528
58indolalkylamine metabolic process (GO:0006586)4.34316675
59cellular ketone body metabolic process (GO:0046950)4.24620690
60coenzyme catabolic process (GO:0009109)4.23515916
61lysine metabolic process (GO:0006553)4.23272475
62lysine catabolic process (GO:0006554)4.23272475
63plasma lipoprotein particle clearance (GO:0034381)4.16743331
64imidazole-containing compound metabolic process (GO:0052803)4.15760583
65cellular amino acid catabolic process (GO:0009063)4.15371316
66benzene-containing compound metabolic process (GO:0042537)4.14089477
67serine family amino acid metabolic process (GO:0009069)4.10921331
68ethanol oxidation (GO:0006069)4.10101895
69cellular glucuronidation (GO:0052695)4.09171963
70serine family amino acid biosynthetic process (GO:0009070)4.03254915
71drug catabolic process (GO:0042737)4.00892813
72complement activation, classical pathway (GO:0006958)3.97732320
73glutamate metabolic process (GO:0006536)3.97238915
74cellular modified amino acid catabolic process (GO:0042219)3.96319129
75cullin deneddylation (GO:0010388)3.94352184
76arginine metabolic process (GO:0006525)3.93681170
77complement activation (GO:0006956)3.92685723
78fibrinolysis (GO:0042730)3.90033173
79mitotic sister chromatid cohesion (GO:0007064)3.88699185
80cholesterol efflux (GO:0033344)3.84294818
81dicarboxylic acid biosynthetic process (GO:0043650)3.84118190
82cytolysis (GO:0019835)3.83893610
83aldehyde catabolic process (GO:0046185)3.83352256
84protein activation cascade (GO:0072376)3.82250490
85tolerance induction (GO:0002507)3.81448756
86plasma lipoprotein particle assembly (GO:0034377)3.80652105
87short-chain fatty acid metabolic process (GO:0046459)3.80616127
88low-density lipoprotein particle remodeling (GO:0034374)3.77310174
89blood coagulation, intrinsic pathway (GO:0007597)3.75997503
90positive regulation of lipid catabolic process (GO:0050996)3.75383291
91cofactor catabolic process (GO:0051187)3.70518481
92positive regulation of lipoprotein lipase activity (GO:0051006)3.69406493
93positive regulation of triglyceride lipase activity (GO:0061365)3.69406493
94NAD biosynthetic process (GO:0009435)3.68209532
95cholesterol homeostasis (GO:0042632)3.67135679
96negative regulation of lipase activity (GO:0060192)3.66125389
97pyridine nucleotide biosynthetic process (GO:0019363)3.65950382
98nicotinamide nucleotide biosynthetic process (GO:0019359)3.65950382
99microtubule depolymerization (GO:0007019)3.65752612
100ketone body metabolic process (GO:1902224)3.63719503
101organic acid catabolic process (GO:0016054)3.63046490
102carboxylic acid catabolic process (GO:0046395)3.63046490
103protein deneddylation (GO:0000338)3.60810773
104sterol homeostasis (GO:0055092)3.59363455
105CENP-A containing nucleosome assembly (GO:0034080)3.58534118
106very-low-density lipoprotein particle assembly (GO:0034379)3.57734407
107RNA destabilization (GO:0050779)3.57040694
108uronic acid metabolic process (GO:0006063)3.55866270
109glucuronate metabolic process (GO:0019585)3.55866270
110negative regulation of protein activation cascade (GO:2000258)3.55093581
111male meiosis I (GO:0007141)3.53682666
112organelle membrane fusion (GO:0090174)3.53353744
113histone H2A acetylation (GO:0043968)3.52475717
114phospholipid homeostasis (GO:0055091)3.52094941
115acetyl-CoA metabolic process (GO:0006084)3.50651263
116urate metabolic process (GO:0046415)3.50494770
1172-oxoglutarate metabolic process (GO:0006103)3.49257228
118centriole replication (GO:0007099)3.47484830
119male meiosis (GO:0007140)3.46223468
120chromatin remodeling at centromere (GO:0031055)3.45019341
121positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)3.34398101
122histone exchange (GO:0043486)3.26357207
123protein localization to Golgi apparatus (GO:0034067)3.24270046
124protein K6-linked ubiquitination (GO:0085020)3.21887186
125regulation of tyrosine phosphorylation of Stat5 protein (GO:0042522)3.18864817
126seminiferous tubule development (GO:0072520)3.17828172
127proteasome assembly (GO:0043248)3.16695124
128regulation of cilium movement (GO:0003352)3.16158664
129acrosome reaction (GO:0007340)3.14442805
130protein localization to kinetochore (GO:0034501)3.12466405
131germ cell migration (GO:0008354)3.11748226
132positive regulation of antigen receptor-mediated signaling pathway (GO:0050857)3.09942181
133nonmotile primary cilium assembly (GO:0035058)3.09684051
134spermatid nucleus differentiation (GO:0007289)3.09643902
135meiosis I (GO:0007127)3.06658917
136sister chromatid cohesion (GO:0007062)3.05424146
137protein K11-linked deubiquitination (GO:0035871)3.01846065
138DNA catabolic process, exonucleolytic (GO:0000738)3.01265690
139tRNA splicing, via endonucleolytic cleavage and ligation (GO:0006388)2.95431298
140RNA splicing, via endonucleolytic cleavage and ligation (GO:0000394)2.95431298
141positive regulation of meiosis (GO:0045836)2.95330184
142RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)2.94166526
143protein targeting to Golgi (GO:0000042)2.88712340
144single strand break repair (GO:0000012)2.85293287
145reciprocal meiotic recombination (GO:0007131)2.83970489
146reciprocal DNA recombination (GO:0035825)2.83970489
147meiotic nuclear division (GO:0007126)2.82737895
148gene silencing by RNA (GO:0031047)2.82502957
149response to pheromone (GO:0019236)2.82095592
150establishment of protein localization to Golgi (GO:0072600)2.81171136
151regulation of centriole replication (GO:0046599)2.80368067
152somatic diversification of immunoglobulins involved in immune response (GO:0002208)2.79826389
153isotype switching (GO:0045190)2.79826389
154somatic recombination of immunoglobulin genes involved in immune response (GO:0002204)2.79826389
155protein polyglutamylation (GO:0018095)2.79808424
156DNA ligation (GO:0006266)2.78961171
157protein neddylation (GO:0045116)2.78564086
158spermatid development (GO:0007286)2.78441452
159negative regulation of DNA recombination (GO:0045910)2.78018041
160purine deoxyribonucleotide catabolic process (GO:0009155)2.76985906
161recombinational repair (GO:0000725)2.75938624
162histone mRNA metabolic process (GO:0008334)2.75833174
163nucleotide-excision repair, DNA gap filling (GO:0006297)2.72510523
164double-strand break repair via homologous recombination (GO:0000724)2.71136203
165purine deoxyribonucleoside triphosphate metabolic process (GO:0009215)2.69098641
166attachment of spindle microtubules to kinetochore (GO:0008608)2.68719390
167kinetochore assembly (GO:0051382)2.67868482
168positive regulation of meiotic cell cycle (GO:0051446)2.67327952
169histone mRNA catabolic process (GO:0071044)2.65843057
170protein K48-linked ubiquitination (GO:0070936)2.65242909
171positive regulation of metaphase/anaphase transition of cell cycle (GO:1902101)2.63937427
172positive regulation of mitotic sister chromatid separation (GO:1901970)2.63937427
173positive regulation of mitotic metaphase/anaphase transition (GO:0045842)2.63937427
174regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090266)2.60063658
175regulation of mitotic spindle checkpoint (GO:1903504)2.60063658
176DNA replication-independent nucleosome organization (GO:0034724)2.60047497
177DNA replication-independent nucleosome assembly (GO:0006336)2.60047497
178ubiquinone biosynthetic process (GO:0006744)2.60042648
179protein-cofactor linkage (GO:0018065)2.58422924
180meiotic cell cycle process (GO:1903046)2.57676768
181negative regulation of DNA-dependent DNA replication (GO:2000104)2.56594431
182fusion of sperm to egg plasma membrane (GO:0007342)2.55907602
183adenosine metabolic process (GO:0046085)2.54589113
184protein localization to chromosome, centromeric region (GO:0071459)2.54314488
185meiotic chromosome segregation (GO:0045132)2.53874117
186DNA methylation involved in gamete generation (GO:0043046)2.52557902
187lysosome localization (GO:0032418)2.52448263
188retrograde transport, vesicle recycling within Golgi (GO:0000301)2.51866421
189ubiquinone metabolic process (GO:0006743)2.51288013
190kinetochore organization (GO:0051383)2.48969532
191lymphoid progenitor cell differentiation (GO:0002320)2.48489505
192negative regulation of meiosis (GO:0045835)2.48488042
193anterograde synaptic vesicle transport (GO:0048490)2.47927435
194neural tube formation (GO:0001841)2.47037242
195replication fork processing (GO:0031297)2.46946566
196negative regulation of tumor necrosis factor-mediated signaling pathway (GO:0010804)2.44936666
197microtubule polymerization or depolymerization (GO:0031109)2.44869580
198regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060211)2.43772359
199positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)2.43772359
200centriole assembly (GO:0098534)2.40650421

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1* RXR_22158963_ChIP-Seq_LIVER_Mouse7.91071025
2EGR1_23403033_ChIP-Seq_LIVER_Mouse7.12626704
3PPARA_22158963_ChIP-Seq_LIVER_Mouse6.84531185
4* LXR_22158963_ChIP-Seq_LIVER_Mouse6.11491534
5FOXO1_23066095_ChIP-Seq_LIVER_Mouse5.12679733
6CEBPA_23403033_ChIP-Seq_LIVER_Mouse4.83276218
7PPARG_19300518_ChIP-PET_3T3-L1_Mouse4.21434316
8CEBPB_23403033_ChIP-Seq_LIVER_Mouse3.93872310
9* NR1I2_20693526_ChIP-Seq_LIVER_Mouse3.81007194
10ZNF274_21170338_ChIP-Seq_K562_Hela3.47645102
11MYCN_21190229_ChIP-Seq_SHEP-21N_Human3.29838886
12GABP_17652178_ChIP-ChIP_JURKAT_Human3.00422123
13IGF1R_20145208_ChIP-Seq_DFB_Human2.93194022
14SALL1_21062744_ChIP-ChIP_HESCs_Human2.92026401
15GATA1_22025678_ChIP-Seq_K562_Human2.80678791
16POU3F2_20337985_ChIP-ChIP_501MEL_Human2.78931050
17KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human2.74840193
18E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse2.73652445
19RBPJ_22232070_ChIP-Seq_NCS_Mouse2.68960310
20EST1_17652178_ChIP-ChIP_JURKAT_Human2.61814386
21ELK1_19687146_ChIP-ChIP_HELA_Human2.58222102
22FUS_26573619_Chip-Seq_HEK293_Human2.46892428
23VDR_23849224_ChIP-Seq_CD4+_Human2.35027841
24VDR_22108803_ChIP-Seq_LS180_Human2.32595692
25IRF1_21803131_ChIP-Seq_MONOCYTES_Human2.27134162
26IRF8_22096565_ChIP-ChIP_GC-B_Human2.24224440
27TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse2.21687617
28HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human2.13307988
29TAF15_26573619_Chip-Seq_HEK293_Human2.10724504
30GBX2_23144817_ChIP-Seq_PC3_Human2.09390482
31FLI1_27457419_Chip-Seq_LIVER_Mouse2.06991412
32E2F4_17652178_ChIP-ChIP_JURKAT_Human2.05691007
33ZFP57_27257070_Chip-Seq_ESCs_Mouse2.04400085
34* ESR1_17901129_ChIP-ChIP_LIVER_Mouse11.3878776
35EWS_26573619_Chip-Seq_HEK293_Human1.99879900
36ELF1_17652178_ChIP-ChIP_JURKAT_Human1.98497385
37TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse1.91597377
38FOXO3_22982991_ChIP-Seq_MACROPHAGES_Mouse1.90685624
39NOTCH1_21737748_ChIP-Seq_TLL_Human1.90547517
40PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse1.90231799
41CHD1_19587682_ChIP-ChIP_MESCs_Mouse1.88386487
42TCF7L2_21901280_ChIP-Seq_H4IIE_Rat1.84248023
43FOXP3_21729870_ChIP-Seq_TREG_Human1.82425715
44HNF4A_19761587_ChIP-ChIP_CACO-2_Human1.80430692
45IRF1_19129219_ChIP-ChIP_H3396_Human1.76275843
46ER_23166858_ChIP-Seq_MCF-7_Human1.66412664
47CEBPD_23245923_ChIP-Seq_MEFs_Mouse1.59661632
48NOTCH1_17114293_ChIP-ChIP_T-ALL_Human1.57735635
49CREB1_15753290_ChIP-ChIP_HEK293T_Human1.56913250
50PADI4_21655091_ChIP-ChIP_MCF-7_Human1.54882779
51PCGF2_27294783_Chip-Seq_ESCs_Mouse1.54157476
52STAT5_23275557_ChIP-Seq_MAMMARY-EPITHELIUM_Mouse1.53500128
53BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse1.52232250
54FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human1.49756381
55HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse1.48234228
56P300_19829295_ChIP-Seq_ESCs_Human1.45778604
57HOXB4_20404135_ChIP-ChIP_EML_Mouse1.44530384
58CTBP1_25329375_ChIP-Seq_LNCAP_Human1.44395178
59HTT_18923047_ChIP-ChIP_STHdh_Human1.43752679
60ETS1_20019798_ChIP-Seq_JURKAT_Human1.42706114
61CTBP2_25329375_ChIP-Seq_LNCAP_Human1.42677698
62FOXA1_21572438_ChIP-Seq_LNCaP_Human1.42433818
63E2F7_22180533_ChIP-Seq_HELA_Human1.39245225
64CLOCK_20551151_ChIP-Seq_293T_Human1.37896467
65MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse1.37417587
66UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human1.36668255
67RCOR1_19997604_ChIP-ChIP_NEURONS_Mouse1.36337005
68FOXA1_25329375_ChIP-Seq_VCAP_Human1.36014092
69FOXA1_27270436_Chip-Seq_PROSTATE_Human1.36014092
70FOXA2_19822575_ChIP-Seq_HepG2_Human1.35788498
71IRF8_21731497_ChIP-ChIP_J774_Mouse1.33844535
72HNF4A_19822575_ChIP-Seq_HepG2_Human1.32462418
73GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.30602712
74STAT3_22323479_ChIP-Seq_MACROPHAGE_Mouse1.30142718
75KDM5B_21448134_ChIP-Seq_MESCs_Mouse1.29013082
76MYC_18940864_ChIP-ChIP_HL60_Human1.27408685
77SRF_21415370_ChIP-Seq_HL-1_Mouse1.22640667
78FOXP3_17237761_ChIP-ChIP_TREG_Mouse1.22445584
79Nerf2_26677805_Chip-Seq_MACROPHAGESS_Mouse1.22163508
80TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse1.21367252
81CBP_20019798_ChIP-Seq_JUKART_Human1.21233459
82IRF4_20064451_ChIP-Seq_CD4+T_Mouse1.21233459
83JARID1A_20064375_ChIP-Seq_MESCs_Mouse1.20180923
84TP63_19390658_ChIP-ChIP_HaCaT_Human1.19776768
85AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human1.19577422
86SMAD4_21799915_ChIP-Seq_A2780_Human1.17359277
87* DCP1A_22483619_ChIP-Seq_HELA_Human1.17253962
88AR_25329375_ChIP-Seq_VCAP_Human1.16409989
89GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse1.16083685
90SOX9_22984422_ChIP-ChIP_TESTIS_Rat1.15077244
91RXRA_24833708_ChIP-Seq_LIVER_Mouse1.14637207
92STAT3_23295773_ChIP-Seq_U87_Human1.14102630
93PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse1.13353285
94* KAP1_22055183_ChIP-Seq_ESCs_Mouse1.12704057
95EZH2_27294783_Chip-Seq_NPCs_Mouse1.12653946
96SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.12314672
97IRF8_22096565_ChIP-ChIP_GC-B_Mouse1.10840375
98PRDM14_20953172_ChIP-Seq_ESCs_Human1.10438585
99OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.10105232
100EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human1.09998559
101SALL4_22934838_ChIP-ChIP_CD34+_Human1.08543714
102MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human1.07561340
103IRF8_27001747_Chip-Seq_BMDM_Mouse1.05748977
104TOP2B_26459242_ChIP-Seq_MCF-7_Human1.04388093
105THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse1.03225450
106NR1H3_23393188_ChIP-Seq_ATHEROSCLEROTIC-FOAM_Human1.02561947
107TP53_22573176_ChIP-Seq_HFKS_Human1.01473629
108SUZ12_27294783_Chip-Seq_NPCs_Mouse1.00904777
109KLF5_20875108_ChIP-Seq_MESCs_Mouse1.00889860
110NANOG_18555785_Chip-Seq_ESCs_Mouse0.99168194
111NFE2_27457419_Chip-Seq_LIVER_Mouse0.98740371
112SOX2_19829295_ChIP-Seq_ESCs_Human0.98491127
113NANOG_19829295_ChIP-Seq_ESCs_Human0.98491127
114SMAD3_21741376_ChIP-Seq_EPCs_Human0.98415593
115GABP_19822575_ChIP-Seq_HepG2_Human0.97915306
116SCL_19346495_ChIP-Seq_HPC-7_Human0.97682165
117SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse0.96856879
118GATA3_26560356_Chip-Seq_TH2_Human0.96578471
119* RUNX2_22187159_ChIP-Seq_PCA_Human0.94750241
120RELA_24523406_ChIP-Seq_FIBROSARCOMA_Human0.93973527
121MYB_26560356_Chip-Seq_TH2_Human0.93097199
122FLI1_21867929_ChIP-Seq_TH2_Mouse0.91187958
123ETS2_20176728_ChIP-ChIP_TROPHOBLAST_STEM_CELLS_Mouse0.91129695
124* TCF4_23295773_ChIP-Seq_U87_Human0.90366083
125TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse0.90307715
126POU5F1_26923725_Chip-Seq_MESODERM_Mouse0.90009319
127TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.90009319
128FOXM1_23109430_ChIP-Seq_U2OS_Human0.88594312
129YY1_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse0.88324411
130TCF4_22108803_ChIP-Seq_LS180_Human0.88021504
131SMAD2/3_21741376_ChIP-Seq_EPCs_Human0.87848380
132CEBPB_21427703_ChIP-Seq_3T3-L1_Mouse0.86556301
133AUTS2_25519132_ChIP-Seq_293T-REX_Human0.83445774
134RUNX1_20887958_ChIP-Seq_HPC-7_Mouse0.78649150
135SOX2_27498859_Chip-Seq_STOMACH_Mouse0.78318231
136* GATA4_25053715_ChIP-Seq_YYC3_Human0.77612068
137ESR1_15608294_ChIP-ChIP_MCF-7_Human0.74307731
138NCOR_22465074_ChIP-Seq_MACROPHAGES_Mouse0.74021114
139SMRT_22465074_ChIP-Seq_MACROPHAGES_Mouse0.71081283
140PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse0.69982938
141SALL4_18804426_ChIP-ChIP_XEN_Mouse0.68882788
142GATA2_20887958_ChIP-Seq_HPC-7_Mouse0.68022468
143RARA_24833708_ChIP-Seq_LIVER_Mouse0.67716243
144ESR2_21235772_ChIP-Seq_MCF-7_Human0.66530417
145CEBPB_22108803_ChIP-Seq_LS180_Human0.65424017
146STAT1_17558387_ChIP-Seq_HELA_Human0.62758456
147SREBP1_19666523_ChIP-Seq_LIVER_Mouse0.61746653
148BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human0.61132439
149* FOXA1_26769127_Chip-Seq_PDAC-Cell_line_Human0.61090895
150CEBPB_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse0.60293858
151ESR1_21235772_ChIP-Seq_MCF-7_Human0.59202066
152AR_21915096_ChIP-Seq_LNCaP-1F5_Human0.58464481
153LYL1_20887958_ChIP-Seq_HPC-7_Mouse0.58382887
154BRD4_27068464_Chip-Seq_AML-cells_Mouse0.58093538
155GATA1_19941826_ChIP-Seq_K562_Human0.57999757
156MYB_21317192_ChIP-Seq_ERMYB_Mouse0.57931295
157* FOXA1_25552417_ChIP-Seq_VCAP_Human0.57559933
158RARG_19884340_ChIP-ChIP_MEFs_Mouse0.56699167
159* RARB_24833708_ChIP-Seq_LIVER_Mouse0.55696557
160* FOXA1_26743006_Chip-Seq_LNCaP-abl_Human0.55354163
161ZNF263_19887448_ChIP-Seq_K562_Human0.54217922
162GATA2_19941826_ChIP-Seq_K562_Human0.53865705
163AR_20517297_ChIP-Seq_VCAP_Human0.53069048
164* CBP_21632823_ChIP-Seq_H3396_Human0.52461298
165P53_21459846_ChIP-Seq_SAOS-2_Human0.51644589
166NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse0.51532421
167CDX2_22108803_ChIP-Seq_LS180_Human0.51487221
168SREBP2_21459322_ChIP-Seq_LIVER_Mouse0.51151416
169RAD21_21589869_ChIP-Seq_MESCs_Mouse0.50183692
170BMI1_19503595_ChIP-Seq_MEFsC_Mouse0.49155459
171ZFP322A_24550733_ChIP-Seq_MESCs_Mouse0.48477576
172ZNF652_21678463_ChIP-ChIP_ZR75-1_Human0.48399673
173LMO2_20887958_ChIP-Seq_HPC-7_Mouse0.47222369
174GATA1_19941827_ChIP-Seq_MEL_Mouse0.47198898
175BCAT_22108803_ChIP-Seq_LS180_Human0.47122592
176STAT3_1855785_ChIP-Seq_MESCs_Mouse0.46763948
177CDX2_21402776_ChIP-Seq_INTESTINAL-VILLUS_Mouse0.46415280
178SOX6_21985497_ChIP-Seq_MYOTUBES_Mouse0.45671483
179FOXO3_23340844_ChIP-Seq_DLD1_Human0.45591108
180SPI1_26923725_Chip-Seq_HPCs_Mouse0.45255742
181ESET_19884257_ChIP-Seq_ESCs_Mouse0.45219414
182PPARD_23208498_ChIP-Seq_MDA-MB-231_Human0.44854925
183PPARG_20887899_ChIP-Seq_3T3-L1_Mouse0.44831639
184SPI1_20517297_ChIP-Seq_HL60_Human0.43746518
185GATA3_26560356_Chip-Seq_TH1_Human0.43326433
186AR_21909140_ChIP-Seq_LNCAP_Human0.43305942
187CEBPB_20176806_ChIP-Seq_MACROPHAGES_Mouse0.42328446
188GATA2_22383799_ChIP-Seq_G1ME_Mouse0.41828505
189* FOXA1_21915096_ChIP-Seq_LNCaP-1F5_Human0.39551872
190TCF21_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human0.39471467
191MECOM_23826213_ChIP-Seq_KASUMI_Mouse0.39336547
192CEBPB_26923725_Chip-Seq_MACROPHAGESS_Mouse0.39259976
193GATA6_25053715_ChIP-Seq_YYC3_Human0.39136705

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0002139_abnormal_hepatobiliary_system7.94208152
2MP0005360_urolithiasis7.25274806
3MP0005085_abnormal_gallbladder_physiolo6.35104434
4MP0005365_abnormal_bile_salt6.03266416
5MP0008875_abnormal_xenobiotic_pharmacok5.03432445
6MP0000569_abnormal_digit_pigmentation4.96241948
7MP0008877_abnormal_DNA_methylation4.56438537
8MP0003252_abnormal_bile_duct3.83926575
9MP0003806_abnormal_nucleotide_metabolis3.81615066
10MP0005174_abnormal_tail_pigmentation3.52085570
11MP0010329_abnormal_lipoprotein_level3.36141973
12MP0005083_abnormal_biliary_tract3.02758047
13MP0008058_abnormal_DNA_repair2.86553149
14MP0009840_abnormal_foam_cell2.82575767
15MP0005332_abnormal_amino_acid2.54987121
16MP0003195_calcinosis2.49181460
17MP0000015_abnormal_ear_pigmentation2.46535228
18MP0001666_abnormal_nutrient_absorption2.37037652
19MP0010094_abnormal_chromosome_stability2.32862539
20MP0003191_abnormal_cellular_cholesterol2.28682580
21MP0002095_abnormal_skin_pigmentation2.19185225
22MP0000609_abnormal_liver_physiology2.15270339
23MP0001188_hyperpigmentation2.01987229
24MP0002118_abnormal_lipid_homeostasis1.97491073
25MP0001929_abnormal_gametogenesis1.95855025
26MP0004019_abnormal_vitamin_homeostasis1.89002693
27MP0002138_abnormal_hepatobiliary_system1.86030617
28MP0003787_abnormal_imprinting1.83334483
29MP0005319_abnormal_enzyme/_coenzyme1.81568546
30MP0008007_abnormal_cellular_replicative1.81534217
31MP0003868_abnormal_feces_composition1.81230412
32MP0003890_abnormal_embryonic-extraembry1.79212606
33MP0000371_diluted_coat_color1.77970301
34MP0008057_abnormal_DNA_replication1.75226438
35MP0005451_abnormal_body_composition1.74002498
36MP0003698_abnormal_male_reproductive1.71546657
37MP0001764_abnormal_homeostasis1.71436008
38MP0004957_abnormal_blastocyst_morpholog1.64359700
39MP0002210_abnormal_sex_determination1.63416894
40MP0002102_abnormal_ear_morphology1.59976555
41MP0009697_abnormal_copulation1.57998356
42MP0003693_abnormal_embryo_hatching1.52120724
43MP0004147_increased_porphyrin_level1.50343001
44MP0001529_abnormal_vocalization1.47790575
45MP0005584_abnormal_enzyme/coenzyme_acti1.43123762
46MP0001324_abnormal_eye_pigmentation1.42823679
47MP0006292_abnormal_olfactory_placode1.42448880
48MP0005410_abnormal_fertilization1.40999709
49MP0005671_abnormal_response_to1.36014717
50MP0001145_abnormal_male_reproductive1.35563473
51MP0009764_decreased_sensitivity_to1.33950836
52MP0008789_abnormal_olfactory_epithelium1.32269121
53MP0000653_abnormal_sex_gland1.27447173
54MP0005551_abnormal_eye_electrophysiolog1.26162713
55MP0006072_abnormal_retinal_apoptosis1.24114342
56MP0003077_abnormal_cell_cycle1.22512599
57MP0006035_abnormal_mitochondrial_morpho1.22344957
58MP0002938_white_spotting1.20954124
59MP0000598_abnormal_liver_morphology1.20294803
60MP0009643_abnormal_urine_homeostasis1.20195062
61MP0003763_abnormal_thymus_physiology1.18525244
62MP0003656_abnormal_erythrocyte_physiolo1.18491044
63MP0003186_abnormal_redox_activity1.18446322
64MP0005367_renal/urinary_system_phenotyp1.16669784
65MP0000516_abnormal_urinary_system1.16669784
66MP0000372_irregular_coat_pigmentation1.15155198
67MP0009763_increased_sensitivity_to1.14357901
68MP0003011_delayed_dark_adaptation1.13737873
69MP0003121_genomic_imprinting1.13648264
70MP0005647_abnormal_sex_gland1.13288182
71MP0000703_abnormal_thymus_morphology1.11792414
72MP0008469_abnormal_protein_level1.11407636
73MP0001293_anophthalmia1.09638729
74MP0002822_catalepsy1.08685360
75MP0003111_abnormal_nucleus_morphology1.08554321
76MP0001919_abnormal_reproductive_system1.06910862
77MP0004381_abnormal_hair_follicle0.98933828
78MP0004742_abnormal_vestibular_system0.98874102
79MP0005464_abnormal_platelet_physiology0.98325853
80MP0010234_abnormal_vibrissa_follicle0.98289341
81MP0002075_abnormal_coat/hair_pigmentati0.97179113
82MP0003436_decreased_susceptibility_to0.96846101
83MP0004142_abnormal_muscle_tone0.93815654
84MP0003724_increased_susceptibility_to0.92350078
85MP0002653_abnormal_ependyma_morphology0.92093252
86MP0001119_abnormal_female_reproductive0.89650804
87MP0005253_abnormal_eye_physiology0.89517872
88MP0009765_abnormal_xenobiotic_induced0.89390892
89MP0009642_abnormal_blood_homeostasis0.88498880
90MP0003705_abnormal_hypodermis_morpholog0.88138008
91MP0005084_abnormal_gallbladder_morpholo0.87488200
92MP0002796_impaired_skin_barrier0.85905544
93MP0001853_heart_inflammation0.85372220
94MP0005499_abnormal_olfactory_system0.84661102
95MP0005394_taste/olfaction_phenotype0.84661102
96MP0005636_abnormal_mineral_homeostasis0.84123720
97MP0005645_abnormal_hypothalamus_physiol0.83315278
98MP0002722_abnormal_immune_system0.83096752
99MP0001177_atelectasis0.83007347
100MP0002009_preneoplasia0.81135696
101MP0004947_skin_inflammation0.80571615
102MP0003937_abnormal_limbs/digits/tail_de0.80286843
103MP0005389_reproductive_system_phenotype0.80148918
104MP0002161_abnormal_fertility/fecundity0.79710869
105MP0010368_abnormal_lymphatic_system0.79544917
106MP0005408_hypopigmentation0.79541623
107MP0002396_abnormal_hematopoietic_system0.79515781
108MP0005220_abnormal_exocrine_pancreas0.78586499
109MP0005310_abnormal_salivary_gland0.78443890
110MP0000604_amyloidosis0.77372868
111MP0005379_endocrine/exocrine_gland_phen0.77372091
112MP0002398_abnormal_bone_marrow0.76932722
113MP0000631_abnormal_neuroendocrine_gland0.76808811
114MP0005670_abnormal_white_adipose0.76409885
115MP0002405_respiratory_system_inflammati0.74878213
116MP0000358_abnormal_cell_content/0.74454133
117MP0002254_reproductive_system_inflammat0.74257350
118MP0000689_abnormal_spleen_morphology0.73236447
119MP0001485_abnormal_pinna_reflex0.73129046
120MP0002837_dystrophic_cardiac_calcinosis0.72661577
121MP0005376_homeostasis/metabolism_phenot0.72043374
122MP0010307_abnormal_tumor_latency0.71584480
123MP0006036_abnormal_mitochondrial_physio0.70710118
124MP0004130_abnormal_muscle_cell0.70650585
125MP0008932_abnormal_embryonic_tissue0.69550843
126MP0002876_abnormal_thyroid_physiology0.68780629
127MP0000685_abnormal_immune_system0.68673767
128MP0005334_abnormal_fat_pad0.68149900
129MP0001243_abnormal_dermal_layer0.67463772
130MP0001186_pigmentation_phenotype0.67463226
131MP0002928_abnormal_bile_duct0.66718769
132MP0003786_premature_aging0.65427869
133MP0005025_abnormal_response_to0.65322201
134MP0001800_abnormal_humoral_immune0.64873169
135MP0001845_abnormal_inflammatory_respons0.64535601
136MP0002078_abnormal_glucose_homeostasis0.64246169
137MP0002060_abnormal_skin_morphology0.63545856
138MP0000462_abnormal_digestive_system0.62428276
139MP0002971_abnormal_brown_adipose0.61423249
140MP0003718_maternal_effect0.61228786
141MP0002751_abnormal_autonomic_nervous0.60000221
142MP0006082_CNS_inflammation0.59636541
143MP0009785_altered_susceptibility_to0.58797826
144MP0002019_abnormal_tumor_incidence0.58309357
145MP0001835_abnormal_antigen_presentation0.58107481
146MP0000716_abnormal_immune_system0.57335057
147MP0002693_abnormal_pancreas_physiology0.57090422
148MP0000647_abnormal_sebaceous_gland0.57013406
149MP0002420_abnormal_adaptive_immunity0.56953509
150MP0001819_abnormal_immune_cell0.56879001
151MP0005535_abnormal_body_temperature0.55366171
152MP0005266_abnormal_metabolism0.54112310
153MP0002136_abnormal_kidney_physiology0.52901589
154MP0002419_abnormal_innate_immunity0.52474496
155MP0004782_abnormal_surfactant_physiolog0.52218614
156MP0008873_increased_physiological_sensi0.51437844
157MP0000427_abnormal_hair_cycle0.48957219
158MP0001790_abnormal_immune_system0.47645379
159MP0005387_immune_system_phenotype0.47645379
160MP0005395_other_phenotype0.47345975
161MP0002148_abnormal_hypersensitivity_rea0.44852335
162MP0008874_decreased_physiological_sensi0.44640231
163MP0010155_abnormal_intestine_physiology0.44331144
164MP0002132_abnormal_respiratory_system0.43241892
165MP0002723_abnormal_immune_serum0.41910193
166MP0003453_abnormal_keratinocyte_physiol0.41695439
167MP0003690_abnormal_glial_cell0.41520170
168MP0000639_abnormal_adrenal_gland0.41209814
169MP0001756_abnormal_urination0.41064924
170MP0003638_abnormal_response/metabolism_0.40956187
171MP0005448_abnormal_energy_balance0.40004274
172MP0002166_altered_tumor_susceptibility0.39583082
173MP0001915_intracranial_hemorrhage0.38386082
174MP0000249_abnormal_blood_vessel0.38341693
175MP0008004_abnormal_stomach_pH0.37732666
176MP0005166_decreased_susceptibility_to0.37660892
177MP0005666_abnormal_adipose_tissue0.37066725
178MP0005075_abnormal_melanosome_morpholog0.36051855
179MP0002970_abnormal_white_adipose0.35836030
180MP0005501_abnormal_skin_physiology0.35631866

Predicted human phenotypes

RankGene SetZ-score
1Abnormality of aromatic amino acid family metabolism (HP:0004338)7.44461998
2Intrahepatic cholestasis (HP:0001406)7.33276910
3Deep venous thrombosis (HP:0002625)7.24451036
4Abnormality of monocarboxylic acid metabolism (HP:0010996)6.49806057
5Prolonged partial thromboplastin time (HP:0003645)6.33720239
6Xanthomatosis (HP:0000991)6.15483916
7Hypobetalipoproteinemia (HP:0003563)6.04907855
8Complement deficiency (HP:0004431)5.51625189
9Hyperlipoproteinemia (HP:0010980)5.31820891
10Hyperammonemia (HP:0001987)4.86216270
11Epidermoid cyst (HP:0200040)4.71343653
12Joint hemorrhage (HP:0005261)4.66294754
13B lymphocytopenia (HP:0010976)4.65580212
14Abnormality of B cell number (HP:0010975)4.47099189
15Hypolipoproteinemia (HP:0010981)4.47016135
16Hyperglycinemia (HP:0002154)4.37859043
17Abnormality of methionine metabolism (HP:0010901)4.31585937
18Abnormality of the common coagulation pathway (HP:0010990)4.25043997
19Abnormality of the level of lipoprotein cholesterol (HP:0010979)4.17166926
20Abnormality of sulfur amino acid metabolism (HP:0004339)4.13897218
21Abnormality of aspartate family amino acid metabolism (HP:0010899)4.09285680
22Abnormality of complement system (HP:0005339)4.09039880
23Fat malabsorption (HP:0002630)4.06080133
24Ketosis (HP:0001946)4.01916601
25Abnormality of glutamine family amino acid metabolism (HP:0010902)3.98300499
26IgM deficiency (HP:0002850)3.96433451
27Abnormality of pyrimidine metabolism (HP:0004353)3.88130643
28Hypoalphalipoproteinemia (HP:0003233)3.87138684
29Abnormality of glycine metabolism (HP:0010895)3.66684014
30Abnormality of serine family amino acid metabolism (HP:0010894)3.66684014
31Abnormality of the intrinsic pathway (HP:0010989)3.62729747
32Hyperglycinuria (HP:0003108)3.56089062
33Hypercholesterolemia (HP:0003124)3.51788577
34Conjugated hyperbilirubinemia (HP:0002908)3.44651501
35Abnormality of long-chain fatty-acid metabolism (HP:0010964)3.41515411
36Hyperbilirubinemia (HP:0002904)3.39622967
37Hypoglycemic coma (HP:0001325)3.34543018
38Chronic hepatic failure (HP:0100626)3.33000866
39Severe combined immunodeficiency (HP:0004430)3.25270502
40Spontaneous abortion (HP:0005268)3.23322601
41Volvulus (HP:0002580)3.23122802
42Abnormality of fatty-acid metabolism (HP:0004359)3.17287962
43Steatorrhea (HP:0002570)3.11235083
44Thyroiditis (HP:0100646)3.11204985
45Abnormality of serum amino acid levels (HP:0003112)3.09474077
46Systemic lupus erythematosus (HP:0002725)3.08144381
47Myocardial infarction (HP:0001658)3.01464651
48Combined immunodeficiency (HP:0005387)2.97225535
49Abnormality of nucleobase metabolism (HP:0010932)2.96885188
50Recurrent gram-negative bacterial infections (HP:0005420)2.96510770
51Hypochromic microcytic anemia (HP:0004840)2.96293316
52Medial flaring of the eyebrow (HP:0010747)2.83504347
53Hepatocellular carcinoma (HP:0001402)2.83458155
54Short tibia (HP:0005736)2.78012163
55Delayed CNS myelination (HP:0002188)2.77332077
56Abnormality of midbrain morphology (HP:0002418)2.74839893
57Molar tooth sign on MRI (HP:0002419)2.74839893
58Oligodactyly (hands) (HP:0001180)2.74525272
59Gingival bleeding (HP:0000225)2.69946110
60Pancreatic fibrosis (HP:0100732)2.69263595
61Aplasia/Hypoplasia of the tibia (HP:0005772)2.68247978
62Ketoacidosis (HP:0001993)2.67785246
63Glomerulonephritis (HP:0000099)2.66740141
64IgG deficiency (HP:0004315)2.66029725
65Hepatocellular necrosis (HP:0001404)2.65392615
66Acanthocytosis (HP:0001927)2.65278471
67Metabolic acidosis (HP:0001942)2.64056115
68Severe visual impairment (HP:0001141)2.62463030
69Increased CSF lactate (HP:0002490)2.59221168
70Skin nodule (HP:0200036)2.54396558
71Congenital primary aphakia (HP:0007707)2.51463115
72Abnormality of purine metabolism (HP:0004352)2.51262461
73Gait imbalance (HP:0002141)2.46884674
74Lethargy (HP:0001254)2.46714348
75Dicarboxylic aciduria (HP:0003215)2.46624134
76Abnormality of dicarboxylic acid metabolism (HP:0010995)2.46624134
77Nephronophthisis (HP:0000090)2.44788726
78Gonadotropin excess (HP:0000837)2.43466675
79Genital tract atresia (HP:0001827)2.41815840
80Median cleft lip (HP:0000161)2.39237826
81Mitochondrial inheritance (HP:0001427)2.36784716
82Mitral stenosis (HP:0001718)2.34415110
83Pancreatic cysts (HP:0001737)2.34240784
84Metaphyseal dysplasia (HP:0100255)2.31773574
85Abnormal mitochondria in muscle tissue (HP:0008316)2.30955191
86Thrombophlebitis (HP:0004418)2.30137511
87Abnormal gallbladder morphology (HP:0012437)2.29741746
88Vascular calcification (HP:0004934)2.27728110
89Hepatic necrosis (HP:0002605)2.27574544
90Spastic diplegia (HP:0001264)2.27286235
91Nephrogenic diabetes insipidus (HP:0009806)2.23234180
92Neonatal onset (HP:0003623)2.22688442
93Rhabdomyosarcoma (HP:0002859)2.22574420
94Congenital stationary night blindness (HP:0007642)2.20894745
95Gout (HP:0001997)2.20721405
96Pancreatitis (HP:0001733)2.20118794
97Esophageal varix (HP:0002040)2.18749007
98Cholelithiasis (HP:0001081)2.18192203
99Progressive cerebellar ataxia (HP:0002073)2.17567868
100Amyloidosis (HP:0011034)2.16972079
101Hypoplastic pelvis (HP:0008839)2.16385474
102Albinism (HP:0001022)2.15773864
103Irritability (HP:0000737)2.15735317
104Acute necrotizing encephalopathy (HP:0006965)2.14151252
105Abnormality of DNA repair (HP:0003254)2.12953130
106Increased hepatocellular lipid droplets (HP:0006565)2.12481764
107Abnormality of pyruvate family amino acid metabolism (HP:0010915)2.12264442
108Abnormality of alanine metabolism (HP:0010916)2.12264442
109Hyperalaninemia (HP:0003348)2.12264442
110Abnormality of chromosome stability (HP:0003220)2.11035134
111Menorrhagia (HP:0000132)2.10735482
112Opisthotonus (HP:0002179)2.10289515
113Abnormality of the renal medulla (HP:0100957)2.09632418
114True hermaphroditism (HP:0010459)2.08662278
115Brushfield spots (HP:0001088)2.05167505
116Progressive inability to walk (HP:0002505)2.04588090
117Cerebral edema (HP:0002181)2.04409909
118Hypoglycemic seizures (HP:0002173)2.03486596
119Cardiovascular calcification (HP:0011915)2.01775330
120Abnormality of the gallbladder (HP:0005264)2.01526290
121Oligodactyly (HP:0012165)2.00936201
122Lipid accumulation in hepatocytes (HP:0006561)2.00199263
123Vaginal atresia (HP:0000148)1.98963448
124Late onset (HP:0003584)1.98848763
1253-Methylglutaconic aciduria (HP:0003535)1.98142614
126Elevated hepatic transaminases (HP:0002910)1.97675580
127Progressive macrocephaly (HP:0004481)1.94847469
128Abnormality of iron homeostasis (HP:0011031)1.94652991
129Generalized aminoaciduria (HP:0002909)1.93933086
130Hemorrhage of the eye (HP:0011885)1.90877025
131Vomiting (HP:0002013)1.90020632
132Poikilocytosis (HP:0004447)1.89730983
133Acute encephalopathy (HP:0006846)1.89017711
134Nephritis (HP:0000123)1.88855187
135Postaxial foot polydactyly (HP:0001830)1.88823630
136Aplasia/Hypoplasia involving the carpal bones (HP:0006502)1.88432738
137Aplasia/Hypoplasia of the uvula (HP:0010293)1.88184339
138Abnormal gallbladder physiology (HP:0012438)1.88141238
139Cholecystitis (HP:0001082)1.88141238
140Degeneration of the lateral corticospinal tracts (HP:0002314)1.87924653
141Atrophy/Degeneration involving the corticospinal tracts (HP:0007372)1.87924653
142Pulmonary embolism (HP:0002204)1.87566315
143Aplasia/hypoplasia of the uterus (HP:0008684)1.87513207
144Chromsome breakage (HP:0040012)1.87427032
145Enlarged kidneys (HP:0000105)1.86799296
146Methylmalonic aciduria (HP:0012120)1.86004350
147Malnutrition (HP:0004395)1.85921509
148Absent/shortened dynein arms (HP:0200106)1.85806853
149Dynein arm defect of respiratory motile cilia (HP:0012255)1.85806853
150Abnormality of transition element cation homeostasis (HP:0011030)1.85172397
151Methylmalonic acidemia (HP:0002912)1.84008515
152Scotoma (HP:0000575)1.83719034
153Sensorimotor neuropathy (HP:0007141)1.83545829
154Decreased activity of mitochondrial respiratory chain (HP:0008972)1.83395846
155Abnormal activity of mitochondrial respiratory chain (HP:0011922)1.83395846
156Type II lissencephaly (HP:0007260)1.83322123
157Abnormality of eosinophils (HP:0001879)1.81552462
158Abnormality of the fovea (HP:0000493)1.80619450
159Increased serum lactate (HP:0002151)1.79839470
160Attenuation of retinal blood vessels (HP:0007843)1.78263888
161Abnormal rod and cone electroretinograms (HP:0008323)1.78230549
162Generalized hypopigmentation of hair (HP:0011358)1.78209997
163Aplasia/Hypoplasia of the tongue (HP:0010295)1.77961619
164Stomatitis (HP:0010280)1.77419413
165Abnormality of macular pigmentation (HP:0008002)1.75828173
166Abnormality of T cell physiology (HP:0011840)1.75801711
167Inability to walk (HP:0002540)1.75773839
168Hypertriglyceridemia (HP:0002155)1.75761238
169Abnormal lung lobation (HP:0002101)1.75351867
170Abnormality of T cells (HP:0002843)1.74866379
171Epistaxis (HP:0000421)1.73266631
172Poor coordination (HP:0002370)1.73193153
173Retinal dysplasia (HP:0007973)1.73053475
174Limb hypertonia (HP:0002509)1.72764533
175Renal cortical cysts (HP:0000803)1.71816929
176Abnormal cartilage morphology (HP:0002763)1.71461907
177Alkalosis (HP:0001948)1.70859833
178Drooling (HP:0002307)1.69724505
179Stomach cancer (HP:0012126)1.69072812
180Fair hair (HP:0002286)1.68859241
181Microcytic anemia (HP:0001935)1.67838771
182* Abnormal enzyme/coenzyme activity (HP:0012379)1.67167224
183Postaxial hand polydactyly (HP:0001162)1.65908719
184Male pseudohermaphroditism (HP:0000037)1.65850430
185Neoplasm of the small intestine (HP:0100833)1.65778896
186Abnormality of vitamin metabolism (HP:0100508)1.65155075
187Chromosomal breakage induced by crosslinking agents (HP:0003221)1.64352753
188Epiphyseal stippling (HP:0010655)1.62810356
189Small hand (HP:0200055)1.61831580
190Reduced antithrombin III activity (HP:0001976)1.61004933
191Abnormality of the renal cortex (HP:0011035)1.60060098
192Abnormal biliary tract physiology (HP:0012439)1.59355212
193Bile duct proliferation (HP:0001408)1.59355212
194Hypothermia (HP:0002045)1.59306265
195Excessive salivation (HP:0003781)1.59160732
196Astigmatism (HP:0000483)1.58333058
197Abnormality of the pons (HP:0007361)1.58184438

Predicted kinase interactions (KEA)

RankGene SetZ-score
1BCKDK6.00617302
2ACVR1B4.91041100
3FGFR43.40218137
4ERN13.31288394
5TAOK33.09135932
6PLK43.00558556
7SIK12.86989081
8MAP3K132.68277424
9TRIM282.58383502
10EIF2AK32.56437259
11PKN22.46351114
12MAP4K22.44806440
13MST1R2.35848370
14INSRR2.24298648
15ERBB42.19353776
16BCR2.14546064
17CDC72.12751473
18MAP3K142.12290102
19STK242.09596275
20TYK22.07527435
21MAP4K12.02842210
22TBK12.02798342
23WNK32.01627799
24TRIB32.00595609
25FLT31.97032690
26FRK1.90499019
27PASK1.86237660
28ZAK1.85561460
29PIK3CG1.82417060
30MAP3K41.80831417
31PNCK1.80063465
32NUAK11.75230362
33CSNK1G21.72144662
34TXK1.68879216
35BLK1.67068640
36CSNK1G31.67062940
37KIT1.59679118
38TGFBR21.53360844
39PTK61.52423094
40ERBB31.48876846
41MAPK131.42189343
42MAP2K41.42148154
43CSNK1A1L1.42077808
44IKBKE1.41481948
45MAPK111.40533644
46JAK21.36856440
47MAP2K71.32624431
48ARAF1.31601700
49TTK1.27971339
50ABL21.26192005
51NLK1.26162625
52GRK61.25954419
53KSR11.25037277
54PINK11.23516074
55JAK31.21724047
56MAP3K101.19930744
57JAK11.17532024
58BMPR1B1.17067105
59PRKAA21.12582466
60BTK1.12437320
61CDK61.12145163
62RPS6KA41.11680821
63KSR21.11382322
64CDK191.04756474
65LATS11.04426893
66MAP2K31.03827234
67YES11.03066316
68RIPK41.02472738
69CSF1R1.01817586
70CASK1.01663717
71DYRK21.00511931
72KDR1.00142272
73STK30.99833503
74ATR0.98751713
75MAP3K120.98079994
76MAPK40.97541421
77MAP3K90.97382900
78MAP3K70.97272260
79MAP3K110.96648150
80NEK10.95978436
81MKNK20.95253627
82TEC0.92640688
83TIE10.91666051
84MAP3K20.90249019
85CDK30.87547514
86CDK40.84722089
87MAP3K60.84046139
88MATK0.83062009
89SYK0.80534005
90EIF2AK10.80360897
91BUB10.79993725
92ADRBK20.79958233
93VRK10.79074897
94ZAP700.78721524
95BRAF0.77908421
96ERBB20.76064141
97PLK10.75151911
98BRSK20.73284658
99CHUK0.70654373
100NEK20.69046034
101CAMK1D0.68904347
102CSK0.68804543
103SGK20.68528205
104ATM0.67028172
105IKBKB0.65850122
106STK390.65586611
107PRKACG0.63954850
108NTRK30.63393765
109PRKCI0.63197983
110WEE10.61944364
111PBK0.60862075
112BMPR20.60710954
113PLK20.58761875
114MAPK70.58645591
115MOS0.57931791
116BRD40.57790277
117CHEK20.57663115
118RAF10.56790679
119TNIK0.56441817
120LYN0.56178922
121EIF2AK20.55235864
122PLK30.53584623
123ITK0.52313264
124EPHB10.52181720
125MAP2K60.50451613
126FGFR30.49749479
127PRKCQ0.49644013
128SGK30.49237944
129NEK90.48994897
130MAP3K10.47347658
131IRAK30.46721952
132MET0.46462266
133PRKCG0.46043646
134MAP2K10.45675072
135MAPK120.45209725
136MAP3K80.44423671
137WNK40.44313789
138DAPK20.43387751
139SRPK10.42848747
140PRKCZ0.41993471
141CSNK1G10.41398555
142PRKCE0.41052206
143CLK10.40719602
144AURKB0.39501848
145LCK0.39051766
146RIPK10.38349875
147IGF1R0.37849644
148GRK10.37396043
149EGFR0.37291512
150PRKAA10.36849585
151ADRBK10.36584410
152ABL10.36457939
153GSK3A0.36307044
154DYRK30.33739880
155MKNK10.33337825
156DYRK1A0.33166006
157DYRK1B0.32604893
158MAPK150.32438638
159MAPK30.32425404
160CCNB10.31403772
161CDK10.30285774
162GRK70.30162443
163HCK0.30024515

Predicted pathways (KEGG)

RankGene SetZ-score
1Primary bile acid biosynthesis_Homo sapiens_hsa001204.71061650
2Nitrogen metabolism_Homo sapiens_hsa009103.54016063
3Ascorbate and aldarate metabolism_Homo sapiens_hsa000533.37707287
4Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004003.24179468
5Non-homologous end-joining_Homo sapiens_hsa034503.14460208
6Protein export_Homo sapiens_hsa030603.01416524
7Arginine biosynthesis_Homo sapiens_hsa002202.98911747
8Fanconi anemia pathway_Homo sapiens_hsa034602.91321103
9Complement and coagulation cascades_Homo sapiens_hsa046102.87431916
10Basal transcription factors_Homo sapiens_hsa030222.78184881
11Homologous recombination_Homo sapiens_hsa034402.70724285
12Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010402.63167597
13Tryptophan metabolism_Homo sapiens_hsa003802.63101387
14Mismatch repair_Homo sapiens_hsa034302.58477085
15Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006032.51546776
16Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006302.49931738
17Glycine, serine and threonine metabolism_Homo sapiens_hsa002602.42634662
18Fatty acid degradation_Homo sapiens_hsa000712.42212568
19Valine, leucine and isoleucine degradation_Homo sapiens_hsa002802.34562968
20Pentose and glucuronate interconversions_Homo sapiens_hsa000402.27567359
21Drug metabolism - cytochrome P450_Homo sapiens_hsa009822.17203205
22Staphylococcus aureus infection_Homo sapiens_hsa051502.16638438
23Nucleotide excision repair_Homo sapiens_hsa034202.15381058
24Regulation of autophagy_Homo sapiens_hsa041402.12490224
25Base excision repair_Homo sapiens_hsa034102.11894915
26Peroxisome_Homo sapiens_hsa041462.08356467
27Butanoate metabolism_Homo sapiens_hsa006502.04628822
28RNA polymerase_Homo sapiens_hsa030202.00526554
29Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005632.00323739
30Chemical carcinogenesis_Homo sapiens_hsa052041.99864426
31Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009801.95886474
32Drug metabolism - other enzymes_Homo sapiens_hsa009831.95479849
33RNA degradation_Homo sapiens_hsa030181.95060529
34Caffeine metabolism_Homo sapiens_hsa002321.92180673
35Histidine metabolism_Homo sapiens_hsa003401.86549331
36Pantothenate and CoA biosynthesis_Homo sapiens_hsa007701.85879640
37Steroid hormone biosynthesis_Homo sapiens_hsa001401.84649861
38Propanoate metabolism_Homo sapiens_hsa006401.83107597
39Oxidative phosphorylation_Homo sapiens_hsa001901.78588696
40PPAR signaling pathway_Homo sapiens_hsa033201.76728878
41Fatty acid metabolism_Homo sapiens_hsa012121.71792476
42beta-Alanine metabolism_Homo sapiens_hsa004101.71065186
43Cyanoamino acid metabolism_Homo sapiens_hsa004601.69689227
44Proteasome_Homo sapiens_hsa030501.69404627
45Selenocompound metabolism_Homo sapiens_hsa004501.67840987
46Retinol metabolism_Homo sapiens_hsa008301.60636879
47Ubiquitin mediated proteolysis_Homo sapiens_hsa041201.59208540
48Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002501.57582964
49DNA replication_Homo sapiens_hsa030301.55403916
50Parkinsons disease_Homo sapiens_hsa050121.41866687
51Phenylalanine metabolism_Homo sapiens_hsa003601.40826614
52RNA transport_Homo sapiens_hsa030131.39920771
53Folate biosynthesis_Homo sapiens_hsa007901.39820732
54Synthesis and degradation of ketone bodies_Homo sapiens_hsa000721.39799238
55Bile secretion_Homo sapiens_hsa049761.37849516
56Dorso-ventral axis formation_Homo sapiens_hsa043201.35888221
57Starch and sucrose metabolism_Homo sapiens_hsa005001.35788167
58Sulfur metabolism_Homo sapiens_hsa009201.33746439
59Taurine and hypotaurine metabolism_Homo sapiens_hsa004301.32841506
60Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030081.31410285
61Cysteine and methionine metabolism_Homo sapiens_hsa002701.31039722
62Tyrosine metabolism_Homo sapiens_hsa003501.29603835
63Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001301.24103863
64Phototransduction_Homo sapiens_hsa047441.22705221
65Huntingtons disease_Homo sapiens_hsa050161.22676103
66Fatty acid elongation_Homo sapiens_hsa000621.21608119
67Pyruvate metabolism_Homo sapiens_hsa006201.18533856
682-Oxocarboxylic acid metabolism_Homo sapiens_hsa012101.14352234
69* Steroid biosynthesis_Homo sapiens_hsa001001.14006825
70T cell receptor signaling pathway_Homo sapiens_hsa046601.13222689
71ABC transporters_Homo sapiens_hsa020101.12992372
72Biosynthesis of amino acids_Homo sapiens_hsa012301.10892066
73Ribosome_Homo sapiens_hsa030101.08291793
74Cytosolic DNA-sensing pathway_Homo sapiens_hsa046231.07319353
75Fat digestion and absorption_Homo sapiens_hsa049751.01132970
76Carbon metabolism_Homo sapiens_hsa012001.01125097
77One carbon pool by folate_Homo sapiens_hsa006700.99123613
78Cell cycle_Homo sapiens_hsa041100.96106043
79Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.96044918
80Maturity onset diabetes of the young_Homo sapiens_hsa049500.95601254
81Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008600.94167916
82Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa009700.92322621
83Vitamin B6 metabolism_Homo sapiens_hsa007500.92056200
84Lysine degradation_Homo sapiens_hsa003100.87310271
85Sulfur relay system_Homo sapiens_hsa041220.87116576
86Alzheimers disease_Homo sapiens_hsa050100.84214810
87Purine metabolism_Homo sapiens_hsa002300.81787220
88Type I diabetes mellitus_Homo sapiens_hsa049400.81486307
89NOD-like receptor signaling pathway_Homo sapiens_hsa046210.81167134
90Arginine and proline metabolism_Homo sapiens_hsa003300.80170121
91Vitamin digestion and absorption_Homo sapiens_hsa049770.76590984
92Allograft rejection_Homo sapiens_hsa053300.74028452
93Pentose phosphate pathway_Homo sapiens_hsa000300.73857108
94Glutathione metabolism_Homo sapiens_hsa004800.69780459
95p53 signaling pathway_Homo sapiens_hsa041150.69329666
96Glycerolipid metabolism_Homo sapiens_hsa005610.68636622
97Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049640.62273796
98Neuroactive ligand-receptor interaction_Homo sapiens_hsa040800.58889463
99Hematopoietic cell lineage_Homo sapiens_hsa046400.58598560
100Natural killer cell mediated cytotoxicity_Homo sapiens_hsa046500.57362289
101Glycolysis / Gluconeogenesis_Homo sapiens_hsa000100.57155180
102mRNA surveillance pathway_Homo sapiens_hsa030150.55197422
103Nicotine addiction_Homo sapiens_hsa050330.54487174
104Taste transduction_Homo sapiens_hsa047420.51213525
105Cytokine-cytokine receptor interaction_Homo sapiens_hsa040600.50465295
106Oocyte meiosis_Homo sapiens_hsa041140.49609757
107Fatty acid biosynthesis_Homo sapiens_hsa000610.46963003
108SNARE interactions in vesicular transport_Homo sapiens_hsa041300.45619236
109Autoimmune thyroid disease_Homo sapiens_hsa053200.44347875
110Progesterone-mediated oocyte maturation_Homo sapiens_hsa049140.43891291
111Ether lipid metabolism_Homo sapiens_hsa005650.43508609
112Prion diseases_Homo sapiens_hsa050200.41229382
113* Metabolic pathways_Homo sapiens_hsa011000.40858276
114Inflammatory bowel disease (IBD)_Homo sapiens_hsa053210.36990331
115Spliceosome_Homo sapiens_hsa030400.35683559
116Graft-versus-host disease_Homo sapiens_hsa053320.35474329
117Jak-STAT signaling pathway_Homo sapiens_hsa046300.35155876
118Transcriptional misregulation in cancer_Homo sapiens_hsa052020.31030632
119Adipocytokine signaling pathway_Homo sapiens_hsa049200.30207157
120Butirosin and neomycin biosynthesis_Homo sapiens_hsa005240.28987170
121Herpes simplex infection_Homo sapiens_hsa051680.26331546
122Olfactory transduction_Homo sapiens_hsa047400.25636290
123Serotonergic synapse_Homo sapiens_hsa047260.23672704
124Epstein-Barr virus infection_Homo sapiens_hsa051690.22465448
125Insulin resistance_Homo sapiens_hsa049310.21311621
126Circadian rhythm_Homo sapiens_hsa047100.20577049
127alpha-Linolenic acid metabolism_Homo sapiens_hsa005920.16454715
128Linoleic acid metabolism_Homo sapiens_hsa005910.14308296
129Citrate cycle (TCA cycle)_Homo sapiens_hsa000200.13965468
130Galactose metabolism_Homo sapiens_hsa000520.13944116
131Fructose and mannose metabolism_Homo sapiens_hsa000510.12986435
132Glycerophospholipid metabolism_Homo sapiens_hsa005640.10448348
133Glycosaminoglycan degradation_Homo sapiens_hsa005310.05723736
134Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006010.04619623
135Systemic lupus erythematosus_Homo sapiens_hsa053220.02193594
136RIG-I-like receptor signaling pathway_Homo sapiens_hsa046220.01617937
137Hepatitis C_Homo sapiens_hsa051600.01309950
138Glucagon signaling pathway_Homo sapiens_hsa049220.00397745
139Insulin signaling pathway_Homo sapiens_hsa04910-0.1786858
140Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa04932-0.1786190
141Influenza A_Homo sapiens_hsa05164-0.1762253
142Pyrimidine metabolism_Homo sapiens_hsa00240-0.1708520
143Acute myeloid leukemia_Homo sapiens_hsa05221-0.1549956
144Measles_Homo sapiens_hsa05162-0.1434071
145Intestinal immune network for IgA production_Homo sapiens_hsa04672-0.1323196
146African trypanosomiasis_Homo sapiens_hsa05143-0.1187303
147Pertussis_Homo sapiens_hsa05133-0.1166445
148Primary immunodeficiency_Homo sapiens_hsa05340-0.1166243
149Toll-like receptor signaling pathway_Homo sapiens_hsa04620-0.1074275
150NF-kappa B signaling pathway_Homo sapiens_hsa04064-0.0832184
151Arachidonic acid metabolism_Homo sapiens_hsa00590-0.0779833
152Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa00604-0.0224926
153Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa00520-0.0151603
154B cell receptor signaling pathway_Homo sapiens_hsa04662-0.0150589
155Terpenoid backbone biosynthesis_Homo sapiens_hsa00900-0.0147473
156AMPK signaling pathway_Homo sapiens_hsa04152-0.0128313

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