CYP51A1P2

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: No gene information available for this gene. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1regulation of glucokinase activity (GO:0033131)5.14364250
2regulation of hexokinase activity (GO:1903299)5.14364250
3protein polyglutamylation (GO:0018095)4.94638122
4positive regulation of mitochondrial fission (GO:0090141)4.91035683
5chaperone-mediated protein transport (GO:0072321)4.74535780
6proteasome assembly (GO:0043248)4.51940942
7protein K6-linked ubiquitination (GO:0085020)4.24546185
8platelet dense granule organization (GO:0060155)4.12601870
9sequestering of actin monomers (GO:0042989)4.10413536
10dopamine transport (GO:0015872)4.10117205
11mitochondrial ATP synthesis coupled proton transport (GO:0042776)4.07736991
12xenobiotic catabolic process (GO:0042178)3.93309169
13pyrimidine nucleobase catabolic process (GO:0006208)3.76544419
14ATP synthesis coupled proton transport (GO:0015986)3.72224704
15energy coupled proton transport, down electrochemical gradient (GO:0015985)3.72224704
16mitochondrial electron transport, NADH to ubiquinone (GO:0006120)3.55145617
17positive regulation of amino acid transport (GO:0051957)3.54060248
18behavioral response to nicotine (GO:0035095)3.53588995
19response to nitrosative stress (GO:0051409)3.52478773
20protein deneddylation (GO:0000338)3.46053074
21establishment of protein localization to mitochondrial membrane (GO:0090151)3.40461247
22cardiac left ventricle morphogenesis (GO:0003214)3.31910943
23tRNA splicing, via endonucleolytic cleavage and ligation (GO:0006388)3.29957527
24RNA splicing, via endonucleolytic cleavage and ligation (GO:0000394)3.29957527
25negative regulation of leukocyte chemotaxis (GO:0002689)3.28466589
26L-fucose catabolic process (GO:0042355)3.28168626
27fucose catabolic process (GO:0019317)3.28168626
28L-fucose metabolic process (GO:0042354)3.28168626
29replication fork processing (GO:0031297)3.24595181
30response to misfolded protein (GO:0051788)3.23385154
31nucleobase catabolic process (GO:0046113)3.23251143
32mitochondrial calcium ion homeostasis (GO:0051560)3.19789739
33negative regulation of synaptic transmission, glutamatergic (GO:0051967)3.18894535
34CENP-A containing nucleosome assembly (GO:0034080)3.17750481
35mitochondrial fission (GO:0000266)3.11176533
36positive regulation of mitochondrial calcium ion concentration (GO:0051561)3.11149141
37cullin deneddylation (GO:0010388)3.10562514
38protein complex biogenesis (GO:0070271)3.08601866
39electron transport chain (GO:0022900)3.06823460
40nonmotile primary cilium assembly (GO:0035058)3.04435792
41respiratory electron transport chain (GO:0022904)3.03428775
42cellular response to vitamin D (GO:0071305)3.03318771
43regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:19022353.02081950
44transcription elongation from RNA polymerase III promoter (GO:0006385)2.99842832
45termination of RNA polymerase III transcription (GO:0006386)2.99842832
46chromatin remodeling at centromere (GO:0031055)2.99187879
47water-soluble vitamin biosynthetic process (GO:0042364)2.97564328
48organelle disassembly (GO:1903008)2.97114402
49cholesterol biosynthetic process (GO:0006695)2.95475299
50regulation of mitochondrial fission (GO:0090140)2.94001614
51sterol biosynthetic process (GO:0016126)2.92325376
52isoprenoid biosynthetic process (GO:0008299)2.92275982
53positive regulation of prostaglandin secretion (GO:0032308)2.88283710
54negative regulation of protein localization to cell surface (GO:2000009)2.85781627
55artery smooth muscle contraction (GO:0014824)2.85645442
56kinetochore assembly (GO:0051382)2.84138317
57ribonucleoprotein complex disassembly (GO:0032988)2.83289378
58L-serine metabolic process (GO:0006563)2.81199212
59anterograde axon cargo transport (GO:0008089)2.81029399
60aggressive behavior (GO:0002118)2.78746388
61neural tube formation (GO:0001841)2.75053951
62histone exchange (GO:0043486)2.72721673
63glutathione derivative biosynthetic process (GO:1901687)2.71973822
64glutathione derivative metabolic process (GO:1901685)2.71973822
65norepinephrine metabolic process (GO:0042415)2.71075890
66positive regulation of organic acid transport (GO:0032892)2.70183442
67negative regulation of execution phase of apoptosis (GO:1900118)2.69604258
68regulation of sarcomere organization (GO:0060297)2.69357321
69mitochondrial respiratory chain complex assembly (GO:0033108)2.65775575
70mitochondrial respiratory chain complex I assembly (GO:0032981)2.64133616
71NADH dehydrogenase complex assembly (GO:0010257)2.64133616
72mitochondrial respiratory chain complex I biogenesis (GO:0097031)2.64133616
73negative regulation of telomere maintenance (GO:0032205)2.60881080
74peroxisome fission (GO:0016559)2.60407923
75cell fate commitment involved in formation of primary germ layer (GO:0060795)2.60274651
76response to pheromone (GO:0019236)2.59814642
77regulation of ER to Golgi vesicle-mediated transport (GO:0060628)2.59494852
78protein neddylation (GO:0045116)2.57411956
79respiratory chain complex IV assembly (GO:0008535)2.55798686
80catecholamine transport (GO:0051937)2.54168341
81positive regulation of cAMP-mediated signaling (GO:0043950)2.53419711
82adaptation of signaling pathway (GO:0023058)2.52994266
83retinal ganglion cell axon guidance (GO:0031290)2.52990032
84regulation of cilium movement (GO:0003352)2.52302182
85histone H2A acetylation (GO:0043968)2.51359888
86maintenance of fidelity involved in DNA-dependent DNA replication (GO:0045005)2.50643822
87transmission of nerve impulse (GO:0019226)2.49590061
88kinetochore organization (GO:0051383)2.49020372
89estrogen biosynthetic process (GO:0006703)2.46397493
90DNA strand renaturation (GO:0000733)2.45836106
91negative regulation of mast cell activation (GO:0033004)2.44957148
92anterograde synaptic vesicle transport (GO:0048490)2.44881359
93tonic smooth muscle contraction (GO:0014820)2.42143001
94C4-dicarboxylate transport (GO:0015740)2.39632863
95hydrogen ion transmembrane transport (GO:1902600)2.39607410
96regulation of meiosis I (GO:0060631)2.38311485
97protein peptidyl-prolyl isomerization (GO:0000413)2.38251040
98cellular response to sterol (GO:0036315)2.36741224
99proton transport (GO:0015992)2.36464688
100postsynaptic membrane organization (GO:0001941)2.36369397

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1GLI1_17442700_ChIP-ChIP_MESCs_Mouse3.54292274
2KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human3.53106803
3GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse3.26830124
4GBX2_23144817_ChIP-Seq_PC3_Human3.00470947
5GABP_17652178_ChIP-ChIP_JURKAT_Human2.96975855
6NOTCH1_17114293_ChIP-ChIP_T-ALL_Human2.94852742
7HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse2.93609369
8ZNF274_21170338_ChIP-Seq_K562_Hela2.80441898
9EST1_17652178_ChIP-ChIP_JURKAT_Human2.71047065
10MYCN_21190229_ChIP-Seq_SHEP-21N_Human2.48778159
11HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human2.42567540
12ZFP57_27257070_Chip-Seq_ESCs_Mouse2.32101078
13ELK1_19687146_ChIP-ChIP_HELA_Human2.26976616
14NR4A2_19515692_ChIP-ChIP_MN9D_Mouse2.13060217
15TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse2.08435194
16POU5F1_16153702_ChIP-ChIP_HESCs_Human2.06665538
17POU3F2_20337985_ChIP-ChIP_501MEL_Human2.03304891
18P300_19829295_ChIP-Seq_ESCs_Human1.99163034
19FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse1.92708463
20CTBP1_25329375_ChIP-Seq_LNCAP_Human1.88686483
21CTBP2_25329375_ChIP-Seq_LNCAP_Human1.80718430
22IGF1R_20145208_ChIP-Seq_DFB_Human1.79397296
23RBPJ_22232070_ChIP-Seq_NCS_Mouse1.78729822
24VDR_22108803_ChIP-Seq_LS180_Human1.76743027
25EWS_26573619_Chip-Seq_HEK293_Human1.71968355
26FUS_26573619_Chip-Seq_HEK293_Human1.71616135
27FLI1_27457419_Chip-Seq_LIVER_Mouse1.69636279
28CREB1_15753290_ChIP-ChIP_HEK293T_Human1.67623865
29E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse1.66354624
30EZH2_22144423_ChIP-Seq_EOC_Human1.65089478
31CHD1_19587682_ChIP-ChIP_MESCs_Mouse1.57758745
32PCGF2_27294783_Chip-Seq_ESCs_Mouse1.56945300
33CEBPD_23245923_ChIP-Seq_MEFs_Mouse1.51425187
34ER_23166858_ChIP-Seq_MCF-7_Human1.50038198
35IRF1_19129219_ChIP-ChIP_H3396_Human1.49927892
36SMAD3_21741376_ChIP-Seq_EPCs_Human1.49182390
37ETS1_20019798_ChIP-Seq_JURKAT_Human1.49084413
38BCAT_22108803_ChIP-Seq_LS180_Human1.47267087
39CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons1.46520290
40SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.45473956
41TOP2B_26459242_ChIP-Seq_MCF-7_Human1.44857046
42SALL1_21062744_ChIP-ChIP_HESCs_Human1.44401137
43TAF15_26573619_Chip-Seq_HEK293_Human1.43228703
44SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.41375608
45KLF4_25985364_ChIP-Seq_ATHEROSCLEROSIS_LESION_Mouse1.40821095
46AR_20517297_ChIP-Seq_VCAP_Human1.40538029
47EZH2_27294783_Chip-Seq_NPCs_Mouse1.38852783
48AR_25329375_ChIP-Seq_VCAP_Human1.36178775
49HTT_18923047_ChIP-ChIP_STHdh_Human1.35421004
50MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human1.33279613
51GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse1.32326366
52SMAD4_21799915_ChIP-Seq_A2780_Human1.30228334
53EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human1.28610866
54JARID1A_20064375_ChIP-Seq_MESCs_Mouse1.26065921
55TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.25829770
56POU5F1_26923725_Chip-Seq_MESODERM_Mouse1.25829770
57SUZ12_27294783_Chip-Seq_NPCs_Mouse1.25352116
58MYC_18940864_ChIP-ChIP_HL60_Human1.25192426
59PIAS1_25552417_ChIP-Seq_VCAP_Human1.24978561
60SOX2_16153702_ChIP-ChIP_HESCs_Human1.24485489
61SRF_21415370_ChIP-Seq_HL-1_Mouse1.23272754
62NANOG_19829295_ChIP-Seq_ESCs_Human1.23221428
63SOX2_19829295_ChIP-Seq_ESCs_Human1.23221428
64PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.19467263
65CBX2_27304074_Chip-Seq_ESCs_Mouse1.18650006
66CBP_20019798_ChIP-Seq_JUKART_Human1.18590854
67IRF4_20064451_ChIP-Seq_CD4+T_Mouse1.18590854
68OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.18443256
69KLF5_20875108_ChIP-Seq_MESCs_Mouse1.18424185
70PADI4_21655091_ChIP-ChIP_MCF-7_Human1.18045123
71CEBPB_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.17537753
72AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human1.14869186
73PCGF2_27294783_Chip-Seq_NPCs_Mouse1.14783485
74ERG_20517297_ChIP-Seq_VCAP_Human1.13925370
75SMAD4_21741376_ChIP-Seq_EPCs_Human1.13797324
76NANOG_16153702_ChIP-ChIP_HESCs_Human1.13521301
77NFE2_27457419_Chip-Seq_LIVER_Mouse1.13498279
78RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.12688179
79VDR_23849224_ChIP-Seq_CD4+_Human1.10915269
80CEBPB_23403033_ChIP-Seq_LIVER_Mouse1.10589030
81TCF4_22108803_ChIP-Seq_LS180_Human1.10358160
82SOX9_26525672_Chip-Seq_Limbbuds_Mouse1.10170044
83TP53_22573176_ChIP-Seq_HFKS_Human1.08897461
84RCOR1_19997604_ChIP-ChIP_NEURONS_Mouse1.08860796
85NCOR_22424771_ChIP-Seq_293T_Human1.08007049
86MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse1.07925066
87EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse1.07603196
88ELF1_17652178_ChIP-ChIP_JURKAT_Human1.06313918
89RUNX2_22187159_ChIP-Seq_PCA_Human1.05425791
90NANOG_18555785_Chip-Seq_ESCs_Mouse1.05141425
91NR3C1_21868756_ChIP-Seq_MCF10A_Human1.04695833
92OCT4_21477851_ChIP-Seq_ESCs_Mouse1.04033080
93CRX_20693478_ChIP-Seq_RETINA_Mouse1.03997952
94SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.01643508
95REST_21632747_ChIP-Seq_MESCs_Mouse1.01387101
96EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human1.00681350
97ELK1_22589737_ChIP-Seq_MCF10A_Human0.99499047
98TP63_19390658_ChIP-ChIP_HaCaT_Human0.99422820
99BMI1_23680149_ChIP-Seq_NPCS_Mouse0.96524950
100DMRT1_21621532_ChIP-ChIP_FETAL_Ovary0.96453555

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0003011_delayed_dark_adaptation4.47010635
2MP0003195_calcinosis3.66083559
3MP0006072_abnormal_retinal_apoptosis3.03179087
4MP0006292_abnormal_olfactory_placode2.90650679
5MP0003122_maternal_imprinting2.77890687
6MP0006276_abnormal_autonomic_nervous2.54525177
7MP0002102_abnormal_ear_morphology2.48041153
8MP0003880_abnormal_central_pattern2.26867199
9MP0002938_white_spotting2.16018394
10MP0005377_hearing/vestibular/ear_phenot2.10067617
11MP0003878_abnormal_ear_physiology2.10067617
12MP0000372_irregular_coat_pigmentation2.08468237
13MP0000569_abnormal_digit_pigmentation2.04970021
14MP0008789_abnormal_olfactory_epithelium2.04718029
15MP0003121_genomic_imprinting2.02149330
16MP0008877_abnormal_DNA_methylation2.01786343
17MP0001529_abnormal_vocalization1.98566093
18MP0005551_abnormal_eye_electrophysiolog1.97139188
19MP0005646_abnormal_pituitary_gland1.93608664
20MP0002735_abnormal_chemical_nociception1.89257097
21MP0001485_abnormal_pinna_reflex1.87159791
22MP0008875_abnormal_xenobiotic_pharmacok1.85479164
23MP0002638_abnormal_pupillary_reflex1.83331582
24MP0000778_abnormal_nervous_system1.79442504
25MP0004742_abnormal_vestibular_system1.78001896
26MP0005253_abnormal_eye_physiology1.74288211
27MP0001879_abnormal_lymphatic_vessel1.73044971
28MP0002736_abnormal_nociception_after1.65268050
29MP0004147_increased_porphyrin_level1.63657760
30MP0006054_spinal_hemorrhage1.60865448
31MP0005084_abnormal_gallbladder_morpholo1.56844812
32MP0005394_taste/olfaction_phenotype1.55774228
33MP0005499_abnormal_olfactory_system1.55774228
34MP0002653_abnormal_ependyma_morphology1.52817758
35MP0010368_abnormal_lymphatic_system1.51486889
36MP0005645_abnormal_hypothalamus_physiol1.50695886
37MP0002282_abnormal_trachea_morphology1.49838448
38MP0005248_abnormal_Harderian_gland1.42298731
39MP0005379_endocrine/exocrine_gland_phen1.40656601
40MP0002272_abnormal_nervous_system1.37078511
41MP0000383_abnormal_hair_follicle1.34275658
42MP0002572_abnormal_emotion/affect_behav1.31749986
43MP0000631_abnormal_neuroendocrine_gland1.29323849
44MP0002138_abnormal_hepatobiliary_system1.28140393
45MP0010386_abnormal_urinary_bladder1.28020069
46MP0001440_abnormal_grooming_behavior1.26736184
47MP0008872_abnormal_physiological_respon1.25719043
48MP0005332_abnormal_amino_acid1.23338237
49MP0003787_abnormal_imprinting1.21834398
50MP0004142_abnormal_muscle_tone1.21532185
51MP0009046_muscle_twitch1.21293603
52MP0004885_abnormal_endolymph1.20946378
53MP0001293_anophthalmia1.18955866
54MP0001486_abnormal_startle_reflex1.18858247
55MP0003879_abnormal_hair_cell1.15686244
56MP0006035_abnormal_mitochondrial_morpho1.15279426
57MP0002557_abnormal_social/conspecific_i1.13428250
58MP0000026_abnormal_inner_ear1.08641853
59MP0005167_abnormal_blood-brain_barrier1.08470016
60MP0005085_abnormal_gallbladder_physiolo1.07418623
61MP0001905_abnormal_dopamine_level1.07106359
62MP0000427_abnormal_hair_cycle1.06416318
63MP0005195_abnormal_posterior_eye1.06246124
64MP0005423_abnormal_somatic_nervous1.05755405
65MP0005408_hypopigmentation1.05740272
66MP0010678_abnormal_skin_adnexa1.04770068
67MP0004270_analgesia1.03900693
68MP0008995_early_reproductive_senescence1.03695943
69MP0001970_abnormal_pain_threshold1.02406669
70MP0001968_abnormal_touch/_nociception1.02306480
71MP0002928_abnormal_bile_duct1.02086182
72MP0001963_abnormal_hearing_physiology1.01520005
73MP0005391_vision/eye_phenotype1.01494758
74MP0003119_abnormal_digestive_system0.96818242
75MP0003136_yellow_coat_color0.96285554
76MP0009053_abnormal_anal_canal0.95652169
77MP0001324_abnormal_eye_pigmentation0.95530402
78MP0000049_abnormal_middle_ear0.95238879
79MP0000566_synostosis0.95201162
80MP0001986_abnormal_taste_sensitivity0.94672607
81MP0003937_abnormal_limbs/digits/tail_de0.94442862
82MP0002734_abnormal_mechanical_nocicepti0.89664963
83MP0000647_abnormal_sebaceous_gland0.89590407
84MP0002752_abnormal_somatic_nervous0.89025174
85MP0002876_abnormal_thyroid_physiology0.88553082
86MP0009745_abnormal_behavioral_response0.87900722
87MP0002229_neurodegeneration0.87768688
88MP0003123_paternal_imprinting0.87290718
89MP0005187_abnormal_penis_morphology0.84023147
90MP0001764_abnormal_homeostasis0.83129371
91MP0003252_abnormal_bile_duct0.80203095
92MP0000537_abnormal_urethra_morphology0.79283703
93MP0006036_abnormal_mitochondrial_physio0.78878568
94MP0009697_abnormal_copulation0.77966742
95MP0003635_abnormal_synaptic_transmissio0.76325220
96MP0002067_abnormal_sensory_capabilities0.75496157
97MP0002733_abnormal_thermal_nociception0.74243443
98MP0005174_abnormal_tail_pigmentation0.73856992
99MP0005367_renal/urinary_system_phenotyp0.73339873
100MP0000516_abnormal_urinary_system0.73339873

Predicted human phenotypes

RankGene SetZ-score
1Hypoplasia of the fovea (HP:0007750)3.48204205
2Aplasia/Hypoplasia of the fovea (HP:0008060)3.48204205
3Abnormality of the labia minora (HP:0012880)3.44308367
4Medial flaring of the eyebrow (HP:0010747)3.40942963
5Pendular nystagmus (HP:0012043)3.28928563
6Abnormality of the fovea (HP:0000493)3.21802269
7Gait imbalance (HP:0002141)3.08144362
8Failure to thrive in infancy (HP:0001531)3.07714456
9Congenital primary aphakia (HP:0007707)3.04619169
10Hypoproteinemia (HP:0003075)2.98089326
11Autoamputation (HP:0001218)2.82736289
12Hypoplasia of the capital femoral epiphysis (HP:0003090)2.81407552
13Molar tooth sign on MRI (HP:0002419)2.78152857
14Abnormality of midbrain morphology (HP:0002418)2.78152857
15Abnormal drinking behavior (HP:0030082)2.75314237
16Polydipsia (HP:0001959)2.75314237
17Aplastic anemia (HP:0001915)2.73124794
18Large for gestational age (HP:0001520)2.66675626
19Genital tract atresia (HP:0001827)2.65861620
20Acute necrotizing encephalopathy (HP:0006965)2.63817412
213-Methylglutaconic aciduria (HP:0003535)2.62291917
22Methylmalonic acidemia (HP:0002912)2.59262513
23Renal Fanconi syndrome (HP:0001994)2.58560246
24Lipid accumulation in hepatocytes (HP:0006561)2.57830244
25Vaginal atresia (HP:0000148)2.54363788
26Oral leukoplakia (HP:0002745)2.52691983
27Abnormal mitochondria in muscle tissue (HP:0008316)2.50307388
28Keratoconus (HP:0000563)2.49740148
29Increased corneal curvature (HP:0100692)2.49740148
30Hyperinsulinemic hypoglycemia (HP:0000825)2.49716600
31Nephrogenic diabetes insipidus (HP:0009806)2.47860387
32Cerebellar dysplasia (HP:0007033)2.44982220
33Pancreatic fibrosis (HP:0100732)2.42680650
34Mitochondrial inheritance (HP:0001427)2.41857998
35Limb dystonia (HP:0002451)2.40307538
36Constricted visual fields (HP:0001133)2.37818770
37Type I diabetes mellitus (HP:0100651)2.37354101
38Abolished electroretinogram (ERG) (HP:0000550)2.37158188
39Hyperglycinuria (HP:0003108)2.36905468
40Nephronophthisis (HP:0000090)2.36215904
41True hermaphroditism (HP:0010459)2.36148005
42Abnormal protein glycosylation (HP:0012346)2.32928874
43Abnormal glycosylation (HP:0012345)2.32928874
44Abnormal isoelectric focusing of serum transferrin (HP:0003160)2.32928874
45Abnormal protein N-linked glycosylation (HP:0012347)2.32928874
46Amblyopia (HP:0000646)2.32176591
47Increased hepatocellular lipid droplets (HP:0006565)2.31832230
48Pancreatic cysts (HP:0001737)2.27673218
49Neonatal respiratory distress (HP:0002643)2.27610454
50Acute encephalopathy (HP:0006846)2.23969320
51Septo-optic dysplasia (HP:0100842)2.23894489
52Hyperventilation (HP:0002883)2.23744702
53Methylmalonic aciduria (HP:0012120)2.22533211
54Absent epiphyses (HP:0010577)2.19862746
55Aplasia/Hypoplasia of the capital femoral epiphysis (HP:0005003)2.19862746
56Increased CSF lactate (HP:0002490)2.19404145
57Progressive cerebellar ataxia (HP:0002073)2.17631025
58Arthropathy (HP:0003040)2.16002272
59Cerebral edema (HP:0002181)2.15324896
60Ulnar claw (HP:0001178)2.15181289
61Progressive macrocephaly (HP:0004481)2.14033138
62Polyuria (HP:0000103)2.13480636
63Hyperglycinemia (HP:0002154)2.13371989
64Abnormality of glycine metabolism (HP:0010895)2.12565037
65Abnormality of serine family amino acid metabolism (HP:0010894)2.12565037
66Thyroid-stimulating hormone excess (HP:0002925)2.07381494
67Hypophosphatemic rickets (HP:0004912)2.06474589
68Esotropia (HP:0000565)2.04404636
69Type I transferrin isoform profile (HP:0003642)2.03288859
70Abnormality of the renal medulla (HP:0100957)1.98876333
71Narrow forehead (HP:0000341)1.97354084
72Decreased electroretinogram (ERG) amplitude (HP:0000654)1.96554021
73Abnormality of proline metabolism (HP:0010907)1.96184765
74Hydroxyprolinuria (HP:0003080)1.96184765
75Adrenal hypoplasia (HP:0000835)1.94322222
76Hypoplastic pelvis (HP:0008839)1.94288322
77Abnormal activity of mitochondrial respiratory chain (HP:0011922)1.93221572
78Decreased activity of mitochondrial respiratory chain (HP:0008972)1.93221572
79Tubular atrophy (HP:0000092)1.93077405
80Chorioretinal atrophy (HP:0000533)1.92475160
81Abnormality of alanine metabolism (HP:0010916)1.91337206
82Hyperalaninemia (HP:0003348)1.91337206
83Abnormality of pyruvate family amino acid metabolism (HP:0010915)1.91337206
84Optic nerve hypoplasia (HP:0000609)1.89664588
85Amniotic constriction ring (HP:0009775)1.88705332
86Abnormality of placental membranes (HP:0011409)1.88705332
87Rib fusion (HP:0000902)1.88491306
88Hypsarrhythmia (HP:0002521)1.88080941
89Postnatal microcephaly (HP:0005484)1.83627649
90Broad-based gait (HP:0002136)1.82710669
91Lethargy (HP:0001254)1.81113270
92EEG with generalized epileptiform discharges (HP:0011198)1.80924031
93Muscular hypotonia of the trunk (HP:0008936)1.79548278
94Azoospermia (HP:0000027)1.79480631
95Abnormality of the metopic suture (HP:0005556)1.79144904
96Hepatocellular necrosis (HP:0001404)1.77137878
97Epileptiform EEG discharges (HP:0011182)1.76768851
98Aplasia/Hypoplasia of the tongue (HP:0010295)1.76496920
99Drooling (HP:0002307)1.76042747
100Increased serum lactate (HP:0002151)1.75174877

Predicted kinase interactions (KEA)

RankGene SetZ-score
1BRSK25.04235687
2PBK4.32913563
3PINK13.31497723
4WNK33.30147888
5WEE12.98299695
6VRK22.80699649
7BRSK12.29894704
8NUAK12.28677126
9FRK2.27374461
10BMPR1B2.22261023
11MAP4K22.07541648
12VRK12.01690440
13SRPK12.01015992
14MST41.90065059
15ZAK1.66427119
16MARK11.62966764
17PLK21.59130895
18ADRBK21.57957596
19CASK1.55801947
20NEK91.45952448
21PLK31.44398281
22MAP3K121.40795118
23DYRK21.36374503
24NME11.26671549
25ACVR1B1.24649795
26EIF2AK31.21998289
27PLK41.19048677
28MAP3K41.17306885
29PIM21.13034260
30TNIK1.12226004
31PDK21.08638992
32GRK11.07634354
33PTK2B1.06547712
34MAPK131.03422056
35PNCK1.02402678
36ARAF1.02104287
37DYRK31.00369972
38TIE10.99248907
39PRKCG0.97745886
40CSNK1G20.93537447
41TRIM280.86479293
42CSNK1G30.86366015
43PAK30.85695710
44LIMK10.85681258
45STK390.84670226
46STK30.84633649
47PLK10.81817609
48TESK10.80432635
49CSNK1G10.78988423
50BCR0.77856830
51BUB10.77015894
52EPHA40.76489963
53EPHB20.71586729
54OXSR10.70361525
55MINK10.67907110
56CAMK2A0.67198756
57FGFR20.65422400
58EIF2AK20.64030552
59CSNK1A10.62430782
60BCKDK0.61635207
61ERBB30.60691731
62INSRR0.60124459
63PKN10.58921271
64MYLK0.58598701
65UHMK10.58516284
66MKNK20.58024142
67YES10.57626358
68PRKCE0.56951702
69STK100.56831863
70PRKD30.56109171
71EIF2AK10.53161928
72ERBB40.52253007
73PRKG10.51385743
74ADRBK10.50224391
75PRKCQ0.50099052
76ROCK10.49410254
77TESK20.47809888
78CHEK20.47754169
79CCNB10.47483875
80MAP2K70.45393102
81AURKA0.45175105
82FER0.45080786
83SCYL20.43178359
84ROCK20.41830687
85KDR0.41495663
86CDK30.41219696
87CAMKK20.40066824
88NEK20.39833008
89MAPKAPK30.39783595
90TAOK10.38401962
91MAP3K50.38074103
92MUSK0.35109130
93STK110.34830994
94IRAK20.34399818
95CAMK2D0.32662976
96GRK50.32220158
97MAP3K130.32086095
98PRKCA0.31985107
99MOS0.31868525
100AURKB0.29493338

Predicted pathways (KEGG)

RankGene SetZ-score
1Protein export_Homo sapiens_hsa030603.22525328
2Oxidative phosphorylation_Homo sapiens_hsa001903.22282778
3Parkinsons disease_Homo sapiens_hsa050122.73125705
4Steroid biosynthesis_Homo sapiens_hsa001002.72887367
5Synthesis and degradation of ketone bodies_Homo sapiens_hsa000722.58646004
6Valine, leucine and isoleucine degradation_Homo sapiens_hsa002802.53448198
7Terpenoid backbone biosynthesis_Homo sapiens_hsa009002.44494791
8RNA polymerase_Homo sapiens_hsa030202.44387632
9Proteasome_Homo sapiens_hsa030502.31624592
10Selenocompound metabolism_Homo sapiens_hsa004501.94002428
11Regulation of autophagy_Homo sapiens_hsa041401.91900296
12Drug metabolism - cytochrome P450_Homo sapiens_hsa009821.87230926
13Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006031.86542435
14Huntingtons disease_Homo sapiens_hsa050161.81136539
15Propanoate metabolism_Homo sapiens_hsa006401.79827726
16Ascorbate and aldarate metabolism_Homo sapiens_hsa000531.78705866
17Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006041.78464364
18Retinol metabolism_Homo sapiens_hsa008301.75871083
19Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005631.72219349
20Alzheimers disease_Homo sapiens_hsa050101.69175802
21Fatty acid degradation_Homo sapiens_hsa000711.68402554
22Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006301.61933900
23Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009801.60394665
24Butanoate metabolism_Homo sapiens_hsa006501.59557882
25Glutathione metabolism_Homo sapiens_hsa004801.56670048
26Chemical carcinogenesis_Homo sapiens_hsa052041.54579463
27Maturity onset diabetes of the young_Homo sapiens_hsa049501.50700521
28Phototransduction_Homo sapiens_hsa047441.45179477
29Glycine, serine and threonine metabolism_Homo sapiens_hsa002601.43373314
30Fatty acid elongation_Homo sapiens_hsa000621.43077777
31Fatty acid metabolism_Homo sapiens_hsa012121.41956869
32Tryptophan metabolism_Homo sapiens_hsa003801.40537397
33Homologous recombination_Homo sapiens_hsa034401.30610491
34Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049321.30400819
35Primary bile acid biosynthesis_Homo sapiens_hsa001201.29542087
36Pyruvate metabolism_Homo sapiens_hsa006201.27319230
37Peroxisome_Homo sapiens_hsa041461.26841632
38Taurine and hypotaurine metabolism_Homo sapiens_hsa004301.24877708
39Cardiac muscle contraction_Homo sapiens_hsa042601.22014857
40Fat digestion and absorption_Homo sapiens_hsa049751.21311908
41Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001301.21106594
42Collecting duct acid secretion_Homo sapiens_hsa049661.20600147
43Basal transcription factors_Homo sapiens_hsa030221.17450796
44Fanconi anemia pathway_Homo sapiens_hsa034601.17351262
45Steroid hormone biosynthesis_Homo sapiens_hsa001401.08611920
46Non-homologous end-joining_Homo sapiens_hsa034501.03140078
47Linoleic acid metabolism_Homo sapiens_hsa005910.95914090
48beta-Alanine metabolism_Homo sapiens_hsa004100.93682256
49Nitrogen metabolism_Homo sapiens_hsa009100.92594441
50Renin-angiotensin system_Homo sapiens_hsa046140.91382955
51alpha-Linolenic acid metabolism_Homo sapiens_hsa005920.91293036
52Pentose and glucuronate interconversions_Homo sapiens_hsa000400.86012988
53Sulfur metabolism_Homo sapiens_hsa009200.83921816
54Taste transduction_Homo sapiens_hsa047420.83434542
55Neuroactive ligand-receptor interaction_Homo sapiens_hsa040800.83316915
56Folate biosynthesis_Homo sapiens_hsa007900.83063235
57Base excision repair_Homo sapiens_hsa034100.82967121
58Insulin secretion_Homo sapiens_hsa049110.80493582
59GABAergic synapse_Homo sapiens_hsa047270.80246913
60Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010400.80119241
61Glycerolipid metabolism_Homo sapiens_hsa005610.76835810
62Nicotine addiction_Homo sapiens_hsa050330.76346391
63Vasopressin-regulated water reabsorption_Homo sapiens_hsa049620.73948636
64Oocyte meiosis_Homo sapiens_hsa041140.73339333
65Arachidonic acid metabolism_Homo sapiens_hsa005900.70383683
66Metabolic pathways_Homo sapiens_hsa011000.69165323
67Pyrimidine metabolism_Homo sapiens_hsa002400.66971517
68Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006010.65349983
69RNA degradation_Homo sapiens_hsa030180.62959541
70Nucleotide excision repair_Homo sapiens_hsa034200.61501468
71Dopaminergic synapse_Homo sapiens_hsa047280.60613984
72Primary immunodeficiency_Homo sapiens_hsa053400.58518162
73Caffeine metabolism_Homo sapiens_hsa002320.57945635
74Pancreatic secretion_Homo sapiens_hsa049720.54402995
75Morphine addiction_Homo sapiens_hsa050320.53814037
76PPAR signaling pathway_Homo sapiens_hsa033200.53364156
77Serotonergic synapse_Homo sapiens_hsa047260.52646718
78N-Glycan biosynthesis_Homo sapiens_hsa005100.51142009
79Thyroid hormone synthesis_Homo sapiens_hsa049180.50312223
80Hedgehog signaling pathway_Homo sapiens_hsa043400.48681585
81Purine metabolism_Homo sapiens_hsa002300.45540619
82Vibrio cholerae infection_Homo sapiens_hsa051100.44886949
83SNARE interactions in vesicular transport_Homo sapiens_hsa041300.44584301
84Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.43378322
85Glutamatergic synapse_Homo sapiens_hsa047240.43077302
86Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.41683206
87Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008600.39300311
88RNA transport_Homo sapiens_hsa030130.38876103
89Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030080.38782215
90Circadian entrainment_Homo sapiens_hsa047130.37807428
91Synaptic vesicle cycle_Homo sapiens_hsa047210.36291739
92Histidine metabolism_Homo sapiens_hsa003400.35168710
93Carbon metabolism_Homo sapiens_hsa012000.33783859
94Glycolysis / Gluconeogenesis_Homo sapiens_hsa000100.33730640
95Citrate cycle (TCA cycle)_Homo sapiens_hsa000200.32865791
96Pathogenic Escherichia coli infection_Homo sapiens_hsa051300.32756034
97Ether lipid metabolism_Homo sapiens_hsa005650.32571219
98Pantothenate and CoA biosynthesis_Homo sapiens_hsa007700.31625434
992-Oxocarboxylic acid metabolism_Homo sapiens_hsa012100.29528945
100Olfactory transduction_Homo sapiens_hsa047400.28790059

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