CYP3A7-CYP3A51P

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 locus represents readthrough transcription between the neighboring CYP3A7 (cytochrome P450, family 3, subfamily A, polypeptide 7) and CYP3A51P (cytochrome P450, family 3, subfamily A, polypeptide 51, pseudogene) genes, which are members of the CYP3A gene cluster on chromosome 7. The downstream pseudogene is not known to be independently transcribed. The readthrough transcript includes CYP3A7 exons 1-13 and exons 2 and 13 of the pseudogene. It encodes a CYP3A isoform with a novel C-terminus. This isoform is only expressed in alleles containing a T nucleotide at the -6 position of a splice acceptor in the pseudogene, which enables correct splicing of the upstream CYP3A7 exons to the pseudogene exons. It should be noted that the reference genome sequence represents the CYP3A7_39256 T->A allele, and thus this haplotype is unlikely to produce the readthrough transcript. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1glyoxylate metabolic process (GO:0046487)6.61924062
2cellular ketone body metabolic process (GO:0046950)6.36756533
3ketone body metabolic process (GO:1902224)5.57932067
4regulation of memory T cell differentiation (GO:0043380)5.51921489
5drug catabolic process (GO:0042737)5.24695975
6exogenous drug catabolic process (GO:0042738)4.81647713
7regulation of fibrinolysis (GO:0051917)4.58659234
8phenylpropanoid metabolic process (GO:0009698)4.50368091
9serine family amino acid catabolic process (GO:0009071)4.46258885
10epoxygenase P450 pathway (GO:0019373)4.33307151
11L-alpha-amino acid transmembrane transport (GO:1902475)4.26361877
12regulation of protein activation cascade (GO:2000257)4.25295859
13negative regulation of fibrinolysis (GO:0051918)4.22106764
14triglyceride-rich lipoprotein particle remodeling (GO:0034370)4.10366859
15regulation of complement activation (GO:0030449)3.97038246
16L-phenylalanine catabolic process (GO:0006559)3.97017701
17erythrose 4-phosphate/phosphoenolpyruvate family amino acid catabolic process (GO:1902222)3.97017701
18cellular glucuronidation (GO:0052695)3.90443566
19centriole replication (GO:0007099)3.90194679
20negative regulation of protein activation cascade (GO:2000258)3.85698199
21drug metabolic process (GO:0017144)3.75851274
22glycine metabolic process (GO:0006544)3.75492643
23regulation of Golgi to plasma membrane protein transport (GO:0042996)3.75438401
24uronic acid metabolic process (GO:0006063)3.72081378
25glucuronate metabolic process (GO:0019585)3.72081378
26negative regulation of complement activation (GO:0045916)3.70932058
27macromolecular complex remodeling (GO:0034367)3.66086968
28plasma lipoprotein particle remodeling (GO:0034369)3.66086968
29protein-lipid complex remodeling (GO:0034368)3.66086968
30regulation of triglyceride catabolic process (GO:0010896)3.62784624
31L-phenylalanine metabolic process (GO:0006558)3.54364301
32erythrose 4-phosphate/phosphoenolpyruvate family amino acid metabolic process (GO:1902221)3.54364301
33complement activation, alternative pathway (GO:0006957)3.51027254
34arginine metabolic process (GO:0006525)3.47442542
35alkaloid metabolic process (GO:0009820)3.47022830
36oxidative demethylation (GO:0070989)3.44216167
37phospholipid efflux (GO:0033700)3.43051574
38regulation of guanylate cyclase activity (GO:0031282)3.41021421
39positive regulation of guanylate cyclase activity (GO:0031284)3.39719145
40very-low-density lipoprotein particle assembly (GO:0034379)3.39675984
41urea metabolic process (GO:0019627)3.39641953
42cholesterol efflux (GO:0033344)3.37311371
43high-density lipoprotein particle remodeling (GO:0034375)3.27789522
44regulation of hexokinase activity (GO:1903299)3.26884180
45regulation of glucokinase activity (GO:0033131)3.26884180
46peptidyl-glutamic acid modification (GO:0018200)3.26438065
47nitrogen cycle metabolic process (GO:0071941)3.25557337
48microtubule polymerization or depolymerization (GO:0031109)3.25150567
49pyrimidine nucleobase catabolic process (GO:0006208)3.24728892
50amino acid salvage (GO:0043102)3.23782695
51L-methionine salvage (GO:0071267)3.23782695
52L-methionine biosynthetic process (GO:0071265)3.23782695
53polyketide metabolic process (GO:0030638)3.21657528
54doxorubicin metabolic process (GO:0044598)3.21657528
55daunorubicin metabolic process (GO:0044597)3.21657528
56peptidyl-glutamic acid carboxylation (GO:0017187)3.20550129
57protein carboxylation (GO:0018214)3.20550129
58auditory receptor cell stereocilium organization (GO:0060088)3.20063476
59protein polyglutamylation (GO:0018095)3.19720813
60flavonoid metabolic process (GO:0009812)3.18482136
61reverse cholesterol transport (GO:0043691)3.16804371
62fructose metabolic process (GO:0006000)3.16375267
63negative regulation of sterol transport (GO:0032372)3.16297073
64negative regulation of cholesterol transport (GO:0032375)3.16297073
65aromatic amino acid family catabolic process (GO:0009074)3.16111130
66organelle disassembly (GO:1903008)3.15331156
67serine family amino acid metabolic process (GO:0009069)3.15209512
68bile acid and bile salt transport (GO:0015721)3.15115769
69protein targeting to Golgi (GO:0000042)3.14855856
70aldehyde catabolic process (GO:0046185)3.12911827
71S-adenosylmethionine metabolic process (GO:0046500)3.10783300
72urea cycle (GO:0000050)3.10497765
73heme transport (GO:0015886)3.09864110
74detection of chemical stimulus involved in sensory perception of smell (GO:0050911)3.08510621
75regulation of activation of Janus kinase activity (GO:0010533)3.08260527
76plasma lipoprotein particle organization (GO:0071827)3.08024198
77triglyceride homeostasis (GO:0070328)3.07702720
78acylglycerol homeostasis (GO:0055090)3.07702720
79regulation of meiosis I (GO:0060631)3.06943523
80iron-sulfur cluster assembly (GO:0016226)3.06507214
81metallo-sulfur cluster assembly (GO:0031163)3.06507214
82fibrinolysis (GO:0042730)3.06398709
83axoneme assembly (GO:0035082)3.05507383
84drug transmembrane transport (GO:0006855)3.05431495
85cytolysis (GO:0019835)3.04359103
86microtubule depolymerization (GO:0007019)3.03798967
87establishment of protein localization to Golgi (GO:0072600)3.02945043
88regulation of plasminogen activation (GO:0010755)3.02916850
89negative regulation of humoral immune response (GO:0002921)2.99829220
90ribonucleoprotein complex disassembly (GO:0032988)2.97006014
91mannosylation (GO:0097502)2.96419752
92arginine catabolic process (GO:0006527)2.96168507
93peroxisome fission (GO:0016559)2.94052923
94sulfur amino acid catabolic process (GO:0000098)2.90027329
95negative regulation of lipase activity (GO:0060192)2.88404289
96aminoglycoside antibiotic metabolic process (GO:0030647)2.86967879
97sperm motility (GO:0030317)2.86418206
98plasma lipoprotein particle assembly (GO:0034377)2.86083971
99bile acid metabolic process (GO:0008206)2.86006303
100blood coagulation, intrinsic pathway (GO:0007597)2.84581310

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1STAT3_22323479_ChIP-Seq_MACROPHAGE_Mouse3.71423231
2GBX2_23144817_ChIP-Seq_PC3_Human3.33748698
3ZNF274_21170338_ChIP-Seq_K562_Hela3.05123065
4EGR1_23403033_ChIP-Seq_LIVER_Mouse3.03663208
5POU3F2_20337985_ChIP-ChIP_501MEL_Human3.01493126
6ESR1_17901129_ChIP-ChIP_LIVER_Mouse2.60688351
7NR4A2_19515692_ChIP-ChIP_MN9D_Mouse2.60549680
8FLI1_27457419_Chip-Seq_LIVER_Mouse2.26583699
9PCGF2_27294783_Chip-Seq_ESCs_Mouse2.23347613
10E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse2.19823389
11FUS_26573619_Chip-Seq_HEK293_Human2.18337408
12IGF1R_20145208_ChIP-Seq_DFB_Human2.04122216
13VDR_22108803_ChIP-Seq_LS180_Human2.01379886
14IRF4_20064451_ChIP-Seq_CD4+T_Mouse1.99185729
15CBP_20019798_ChIP-Seq_JUKART_Human1.99185729
16CTBP2_25329375_ChIP-Seq_LNCAP_Human1.94566700
17TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.93914390
18CTBP1_25329375_ChIP-Seq_LNCAP_Human1.89268424
19ZFP57_27257070_Chip-Seq_ESCs_Mouse1.88795477
20ER_23166858_ChIP-Seq_MCF-7_Human1.86359644
21SUZ12_27294783_Chip-Seq_NPCs_Mouse1.85507460
22CEBPB_23403033_ChIP-Seq_LIVER_Mouse1.82582248
23RXR_22158963_ChIP-Seq_LIVER_Mouse1.81864000
24NFE2_27457419_Chip-Seq_LIVER_Mouse1.68456236
25P300_19829295_ChIP-Seq_ESCs_Human1.67172759
26GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse1.65855806
27KLF5_20875108_ChIP-Seq_MESCs_Mouse1.62155687
28LXR_22158963_ChIP-Seq_LIVER_Mouse1.60819817
29MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human1.59722854
30TP53_22573176_ChIP-Seq_HFKS_Human1.54814716
31ETV2_25802403_ChIP-Seq_MESCs_Mouse1.53471446
32NR3C1_21868756_ChIP-Seq_MCF10A_Human1.53060813
33CEBPA_23403033_ChIP-Seq_LIVER_Mouse1.52452200
34ELF1_17652178_ChIP-ChIP_JURKAT_Human1.51256799
35UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human1.50942485
36PCGF2_27294783_Chip-Seq_NPCs_Mouse1.49985367
37EZH2_27294783_Chip-Seq_NPCs_Mouse1.49866325
38TAF15_26573619_Chip-Seq_HEK293_Human1.49710947
39HTT_18923047_ChIP-ChIP_STHdh_Human1.49548597
40SMAD4_21799915_ChIP-Seq_A2780_Human1.46851317
41AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human1.44133967
42STAT3_23295773_ChIP-Seq_U87_Human1.41160764
43SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.40544337
44FOXA1_25329375_ChIP-Seq_VCAP_Human1.40108839
45FOXA1_27270436_Chip-Seq_PROSTATE_Human1.40108839
46HNF4A_19761587_ChIP-ChIP_CACO-2_Human1.38518718
47EWS_26573619_Chip-Seq_HEK293_Human1.38436440
48EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human1.37634306
49FOXA1_21572438_ChIP-Seq_LNCaP_Human1.36745726
50PPARA_22158963_ChIP-Seq_LIVER_Mouse1.35864561
51AR_25329375_ChIP-Seq_VCAP_Human1.34943097
52GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.34621157
53GLI1_17442700_ChIP-ChIP_MESCs_Mouse1.32607450
54PBX1_22567123_ChIP-ChIP_OVCAR3_Human1.32145393
55RBPJ_22232070_ChIP-Seq_NCS_Mouse1.32061665
56PHF8_20622853_ChIP-Seq_HELA_Human1.31266855
57PCGF4_22325352_ChIP-Seq_293T-Rex_Human1.30406659
58PIAS1_25552417_ChIP-Seq_VCAP_Human1.29681256
59TCF4_23295773_ChIP-Seq_U87_Human1.27906079
60TCF4_22108803_ChIP-Seq_LS180_Human1.27825062
61SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.27617053
62AR_20517297_ChIP-Seq_VCAP_Human1.27482981
63PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse1.26625817
64RBPJ_21746931_ChIP-Seq_IB4_Human1.24669323
65EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human1.24106612
66RUNX2_22187159_ChIP-Seq_PCA_Human1.23784178
67CDX2_21074721_ChIP-Seq_CACO-2_Mouse1.22820195
68TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human1.22268057
69FOXO1_23066095_ChIP-Seq_LIVER_Mouse1.22091931
70MYCN_21190229_ChIP-Seq_SHEP-21N_Human1.22027912
71EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse1.21043020
72HNFA_21074721_ChIP-Seq_CACO-2_Human1.20831986
73SMAD3_21741376_ChIP-Seq_EPCs_Human1.20672522
74EBNA1_20929547_Chip-Seq_RAJI-cells_Human1.20314520
75STAT3_18555785_Chip-Seq_ESCs_Mouse1.18912718
76CEBPB_22108803_ChIP-Seq_LS180_Human1.17186881
77ETV1_20927104_ChIP-Seq_GIST48_Human1.17030401
78HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human1.17002466
79SMAD4_21741376_ChIP-Seq_EPCs_Human1.15616828
80CDX2_22108803_ChIP-Seq_LS180_Human1.15324324
81AUTS2_25519132_ChIP-Seq_293T-REX_Human1.14280476
82MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human1.14267616
83JUN_21703547_ChIP-Seq_K562_Human1.13997617
84NFYA_21822215_ChIP-Seq_K562_Human1.12853600
85MYC_19829295_ChIP-Seq_ESCs_Human1.12110461
86NFYB_21822215_ChIP-Seq_K562_Human1.12006586
87NCOR_22424771_ChIP-Seq_293T_Human1.09790954
88TP53_18474530_ChIP-ChIP_U2OS_Human1.09575947
89CRX_20693478_ChIP-Seq_RETINA_Mouse1.09024824
90CBX2_22325352_ChIP-Seq_293T-Rex_Human1.07039154
91GABP_17652178_ChIP-ChIP_JURKAT_Human1.06364728
92BCAT_22108803_ChIP-Seq_LS180_Human1.06356161
93SOX2_19829295_ChIP-Seq_ESCs_Human1.06253987
94NANOG_19829295_ChIP-Seq_ESCs_Human1.06253987
95GATA6_21074721_ChIP-Seq_CACO-2_Human1.06002808
96GATA3_21878914_ChIP-Seq_MCF-7_Human1.04047863
97KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human1.03893599
98TCF4_18268006_ChIP-ChIP_LS174T_Human1.03804408
99SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.02632038
100SOX6_21985497_ChIP-Seq_MYOTUBES_Mouse1.01991927

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0002139_abnormal_hepatobiliary_system6.05765521
2MP0005360_urolithiasis5.91962900
3MP0003195_calcinosis4.34692982
4MP0005085_abnormal_gallbladder_physiolo3.88801049
5MP0002138_abnormal_hepatobiliary_system3.88799490
6MP0005365_abnormal_bile_salt3.13239225
7MP0008875_abnormal_xenobiotic_pharmacok2.94167794
8MP0003252_abnormal_bile_duct2.56943203
9MP0010329_abnormal_lipoprotein_level2.50531009
10MP0002132_abnormal_respiratory_system2.30786914
11MP0002876_abnormal_thyroid_physiology2.15770336
12MP0005645_abnormal_hypothalamus_physiol2.14574272
13MP0001764_abnormal_homeostasis2.14126567
14MP0009697_abnormal_copulation2.04205024
15MP0005332_abnormal_amino_acid2.02813159
16MP0001666_abnormal_nutrient_absorption2.02427656
17MP0005551_abnormal_eye_electrophysiolog1.97163715
18MP0001188_hyperpigmentation1.86568740
19MP0005410_abnormal_fertilization1.84766741
20MP0000569_abnormal_digit_pigmentation1.69510783
21MP0001486_abnormal_startle_reflex1.67917783
22MP0003122_maternal_imprinting1.63787335
23MP0003868_abnormal_feces_composition1.62319790
24MP0005174_abnormal_tail_pigmentation1.55217511
25MP0004019_abnormal_vitamin_homeostasis1.49103927
26MP0003183_abnormal_peptide_metabolism1.44762910
27MP0001929_abnormal_gametogenesis1.40478673
28MP0005379_endocrine/exocrine_gland_phen1.38868760
29MP0001984_abnormal_olfaction1.36212529
30MP0009840_abnormal_foam_cell1.32196115
31MP0008995_early_reproductive_senescence1.30311031
32MP0003011_delayed_dark_adaptation1.27037724
33MP0003698_abnormal_male_reproductive1.24688500
34MP0009046_muscle_twitch1.23855365
35MP0002736_abnormal_nociception_after1.19968905
36MP0009745_abnormal_behavioral_response1.19446661
37MP0002118_abnormal_lipid_homeostasis1.18380534
38MP0001963_abnormal_hearing_physiology1.17088818
39MP0001485_abnormal_pinna_reflex1.16627825
40MP0005376_homeostasis/metabolism_phenot1.13904808
41MP0005408_hypopigmentation1.12391575
42MP0002272_abnormal_nervous_system1.08856336
43MP0001501_abnormal_sleep_pattern1.08722136
44MP0000751_myopathy1.07901562
45MP0003646_muscle_fatigue1.07710077
46MP0005084_abnormal_gallbladder_morpholo1.07139087
47MP0008872_abnormal_physiological_respon1.06167175
48MP0004043_abnormal_pH_regulation1.01244474
49MP0003718_maternal_effect1.00480300
50MP0001986_abnormal_taste_sensitivity0.99532366
51MP0002928_abnormal_bile_duct0.99386508
52MP0002102_abnormal_ear_morphology0.99347619
53MP0001661_extended_life_span0.99191775
54MP0009780_abnormal_chondrocyte_physiolo0.96241949
55MP0005083_abnormal_biliary_tract0.95703902
56MP0002163_abnormal_gland_morphology0.94398996
57MP0005253_abnormal_eye_physiology0.94240575
58MP0004145_abnormal_muscle_electrophysio0.93800638
59MP0001727_abnormal_embryo_implantation0.92628468
60MP0004885_abnormal_endolymph0.90131050
61MP0000013_abnormal_adipose_tissue0.89329122
62MP0005319_abnormal_enzyme/_coenzyme0.89300921
63MP0003186_abnormal_redox_activity0.89195747
64MP0002229_neurodegeneration0.87831403
65MP0005636_abnormal_mineral_homeostasis0.87255978
66MP0005266_abnormal_metabolism0.87157412
67MP0005670_abnormal_white_adipose0.83125627
68MP0004147_increased_porphyrin_level0.82952982
69MP0000372_irregular_coat_pigmentation0.82504164
70MP0002160_abnormal_reproductive_system0.77952114
71MP0002572_abnormal_emotion/affect_behav0.76731079
72MP0000609_abnormal_liver_physiology0.74897018
73MP0005167_abnormal_blood-brain_barrier0.73995682
74MP0005394_taste/olfaction_phenotype0.72850587
75MP0005499_abnormal_olfactory_system0.72850587
76MP0002161_abnormal_fertility/fecundity0.72372331
77MP0002233_abnormal_nose_morphology0.70572375
78MP0002064_seizures0.68063450
79MP0005395_other_phenotype0.66631371
80MP0000015_abnormal_ear_pigmentation0.65555325
81MP0002909_abnormal_adrenal_gland0.65254621
82MP0002078_abnormal_glucose_homeostasis0.64580559
83MP0005535_abnormal_body_temperature0.64419687
84MP0009642_abnormal_blood_homeostasis0.64067872
85MP0001145_abnormal_male_reproductive0.63922732
86MP0004484_altered_response_of0.63282797
87MP0000747_muscle_weakness0.63273100
88MP0003633_abnormal_nervous_system0.63090770
89MP0004233_abnormal_muscle_weight0.62394953
90MP0002822_catalepsy0.61742087
91MP0002837_dystrophic_cardiac_calcinosis0.61572630
92MP0001968_abnormal_touch/_nociception0.61555406
93MP0003953_abnormal_hormone_level0.61173144
94MP0002557_abnormal_social/conspecific_i0.61024923
95MP0000026_abnormal_inner_ear0.60885496
96MP0000427_abnormal_hair_cycle0.60556236
97MP0006036_abnormal_mitochondrial_physio0.60327651
98MP0000653_abnormal_sex_gland0.60132746
99MP0005389_reproductive_system_phenotype0.60057144
100MP0004883_abnormal_blood_vessel0.59692472

Predicted human phenotypes

RankGene SetZ-score
1Type II lissencephaly (HP:0007260)4.69018836
2Prolonged partial thromboplastin time (HP:0003645)4.59899213
3Deep venous thrombosis (HP:0002625)4.43425495
4Renal cortical cysts (HP:0000803)4.24404498
5Abnormality of monocarboxylic acid metabolism (HP:0010996)4.05343734
6Hypobetalipoproteinemia (HP:0003563)3.99756111
7Hyperlipoproteinemia (HP:0010980)3.95840400
8Xanthomatosis (HP:0000991)3.87301315
9Retinal dysplasia (HP:0007973)3.45183209
10Epidermoid cyst (HP:0200040)3.33646217
11Abnormality of pyrimidine metabolism (HP:0004353)3.32175533
12Bile duct proliferation (HP:0001408)3.22456413
13Abnormal biliary tract physiology (HP:0012439)3.22456413
14Hyperglycinemia (HP:0002154)3.20242092
15Complement deficiency (HP:0004431)3.13515657
16Intrahepatic cholestasis (HP:0001406)3.06093393
17Abnormality of aromatic amino acid family metabolism (HP:0004338)3.00545665
18Abnormality of the renal cortex (HP:0011035)3.00203158
19Glycosuria (HP:0003076)2.92083374
20Abnormality of urine glucose concentration (HP:0011016)2.92083374
21Generalized aminoaciduria (HP:0002909)2.86539566
22Abnormality of DNA repair (HP:0003254)2.78036357
23Abnormality of the level of lipoprotein cholesterol (HP:0010979)2.77088337
24Pancreatic cysts (HP:0001737)2.75175838
25Optic nerve hypoplasia (HP:0000609)2.73674028
26Hypolipoproteinemia (HP:0010981)2.73212786
27Abnormality of glutamine family amino acid metabolism (HP:0010902)2.73002523
28Absent speech (HP:0001344)2.70995639
29Chronic hepatic failure (HP:0100626)2.66124225
30Polyphagia (HP:0002591)2.65489893
31Reduced antithrombin III activity (HP:0001976)2.64911958
323-Methylglutaconic aciduria (HP:0003535)2.55918451
33Acute encephalopathy (HP:0006846)2.53594094
34Joint hemorrhage (HP:0005261)2.47994064
35Reticulocytosis (HP:0001923)2.45275091
36Acanthocytosis (HP:0001927)2.42083599
37Cerebellar dysplasia (HP:0007033)2.38153582
38Glomerulonephritis (HP:0000099)2.36825372
39Abnormality of glycine metabolism (HP:0010895)2.36178667
40Abnormality of serine family amino acid metabolism (HP:0010894)2.36178667
41Hyperglycinuria (HP:0003108)2.30394753
42Hypoproteinemia (HP:0003075)2.27008022
43Conjugated hyperbilirubinemia (HP:0002908)2.22788873
44Hypoalphalipoproteinemia (HP:0003233)2.22703021
45Aplasia/Hypoplasia of the optic nerve (HP:0008058)2.22033366
46Abnormal mitochondria in muscle tissue (HP:0008316)2.21528899
47Brushfield spots (HP:0001088)2.19692333
48Poikilocytosis (HP:0004447)2.16398438
49Type I transferrin isoform profile (HP:0003642)2.12205169
50Amblyopia (HP:0000646)2.10482878
51Supernumerary spleens (HP:0009799)2.10425721
52Retinal atrophy (HP:0001105)2.09305236
53Cerebral edema (HP:0002181)2.04694753
54Abnormality of complement system (HP:0005339)2.03281440
55Degeneration of anterior horn cells (HP:0002398)2.01237545
56Abnormality of the anterior horn cell (HP:0006802)2.01237545
57Abnormal activity of mitochondrial respiratory chain (HP:0011922)1.97661790
58Decreased activity of mitochondrial respiratory chain (HP:0008972)1.97661790
59Hyperammonemia (HP:0001987)1.95606504
60Lethargy (HP:0001254)1.93328352
61Progressive inability to walk (HP:0002505)1.93261767
62Acute necrotizing encephalopathy (HP:0006965)1.91593980
63Lissencephaly (HP:0001339)1.90769791
64Limb dystonia (HP:0002451)1.90631145
65Abnormality of nucleobase metabolism (HP:0010932)1.90506825
66Hyperbilirubinemia (HP:0002904)1.90380380
67Pancreatic fibrosis (HP:0100732)1.89132400
68Delayed CNS myelination (HP:0002188)1.88214700
69Abnormality of the common coagulation pathway (HP:0010990)1.87793865
70Abnormal albumin level (HP:0012116)1.87773887
71Hypoalbuminemia (HP:0003073)1.87773887
72Hyperventilation (HP:0002883)1.86273718
73Abnormal protein glycosylation (HP:0012346)1.84643360
74Abnormal glycosylation (HP:0012345)1.84643360
75Abnormal isoelectric focusing of serum transferrin (HP:0003160)1.84643360
76Abnormal protein N-linked glycosylation (HP:0012347)1.84643360
77Abnormality of the vitreous humor (HP:0004327)1.82992870
78True hermaphroditism (HP:0010459)1.82854057
79Abnormality of the ileum (HP:0001549)1.82112755
80Gaze-evoked nystagmus (HP:0000640)1.81381184
81Mesangial abnormality (HP:0001966)1.81262311
82Inability to walk (HP:0002540)1.79715594
83Abolished electroretinogram (ERG) (HP:0000550)1.79521300
84Hepatic necrosis (HP:0002605)1.77767907
85Metabolic acidosis (HP:0001942)1.77050951
86Febrile seizures (HP:0002373)1.71980343
87Meckel diverticulum (HP:0002245)1.70603021
88Abnormality of fatty-acid metabolism (HP:0004359)1.70546823
89Spastic tetraplegia (HP:0002510)1.69344799
90Atrophy/Degeneration involving motor neurons (HP:0007373)1.69330269
91Gingival bleeding (HP:0000225)1.68843634
92Abnormality of macular pigmentation (HP:0008002)1.68655756
93Albinism (HP:0001022)1.68298227
94Abnormal gallbladder morphology (HP:0012437)1.68078181
95Abnormality of dicarboxylic acid metabolism (HP:0010995)1.67460819
96Dicarboxylic aciduria (HP:0003215)1.67460819
97Poikiloderma (HP:0001029)1.66631350
98Abnormality of dental color (HP:0011073)1.64509711
99Hyperphosphaturia (HP:0003109)1.64294285
100Abnormality of aspartate family amino acid metabolism (HP:0010899)1.63720763

Predicted kinase interactions (KEA)

RankGene SetZ-score
1MUSK6.53983268
2WNK34.44713885
3TRIM284.16418178
4PLK44.11831080
5MAP3K43.84878553
6MAP4K23.65850381
7ZAK2.76060502
8ADRBK22.62590326
9MAP2K72.32493928
10EPHA32.06646451
11MAPK132.02353465
12NUAK11.75879459
13STK38L1.73537417
14RPS6KA41.72015676
15UHMK11.60285208
16BCR1.52926534
17TAOK31.38405462
18PLK21.32381493
19CDK191.32304487
20BRSK21.30196971
21INSRR1.27171540
22FRK1.23407988
23OXSR11.21710098
24BCKDK1.16831478
25MAP2K41.16795831
26PINK11.05074456
27SIK31.02529086
28NME11.00396057
29MARK10.99263879
30NEK60.98717496
31BMPR20.98227595
32TLK10.97674645
33MAPK110.96266444
34PDK20.91657365
35NTRK20.90296541
36ACVR1B0.89996634
37DYRK1A0.88766151
38BRD40.88543149
39STK380.80715157
40MAP3K50.79780007
41GRK10.77457376
42RPS6KA50.75444866
43CDK180.70742509
44SRPK10.69138817
45CAMK2G0.66093223
46DAPK20.64073643
47CDC70.63388841
48WNK40.62829231
49PRKCG0.61289749
50PIK3CG0.60945651
51MAP3K120.60923452
52CDK150.60899236
53GRK70.59846179
54PRKCE0.59017797
55CSNK1G30.58452753
56CSNK1G10.58175989
57CDK11A0.55988836
58CDK140.52551605
59CAMK2B0.52284628
60TXK0.51259671
61TYK20.50319701
62PRKD30.49905887
63PRKCQ0.49836624
64PRKAA10.49038852
65FER0.48667582
66CSNK1G20.48373119
67PNCK0.47094187
68DYRK20.46556871
69CAMK40.44795412
70CDK30.44273583
71CAMK2D0.44074745
72BMPR1B0.43825778
73PRKACG0.42840617
74CAMK2A0.40964943
75PRKAA20.40227495
76PAK30.40024846
77NTRK30.39291749
78ERBB40.38501312
79KSR10.37898606
80PRKCZ0.37516944
81BRSK10.36541208
82LMTK20.36461957
83WEE10.35999082
84PRKACA0.35877006
85LIMK10.35361000
86RAF10.34682406
87DYRK1B0.33007911
88ITK0.32062410
89PLK10.31943008
90CSNK1A10.31281535
91CDK50.31027138
92SIK20.30771815
93TESK10.30513222
94VRK10.30373263
95JAK10.30013380
96SGK2230.28204870
97SGK4940.28204870
98NLK0.27691253
99ERBB20.26077253
100MAP3K70.25503190

Predicted pathways (KEGG)

RankGene SetZ-score
1Synthesis and degradation of ketone bodies_Homo sapiens_hsa000723.66638038
2Butanoate metabolism_Homo sapiens_hsa006503.03481055
3Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004002.63715896
4Glycine, serine and threonine metabolism_Homo sapiens_hsa002602.62323837
5Retinol metabolism_Homo sapiens_hsa008302.57459765
6Complement and coagulation cascades_Homo sapiens_hsa046102.47668344
7Arginine biosynthesis_Homo sapiens_hsa002202.43665441
8Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010402.39977590
9Drug metabolism - cytochrome P450_Homo sapiens_hsa009822.30396513
10Ascorbate and aldarate metabolism_Homo sapiens_hsa000532.23639795
11Pentose and glucuronate interconversions_Homo sapiens_hsa000402.17863313
12Chemical carcinogenesis_Homo sapiens_hsa052042.15497262
13Steroid hormone biosynthesis_Homo sapiens_hsa001402.15396414
14Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006302.09664635
15Taurine and hypotaurine metabolism_Homo sapiens_hsa004302.06423387
16Valine, leucine and isoleucine degradation_Homo sapiens_hsa002801.99957576
17Phenylalanine metabolism_Homo sapiens_hsa003601.98452862
18Primary bile acid biosynthesis_Homo sapiens_hsa001201.97276928
19Fatty acid degradation_Homo sapiens_hsa000711.95677483
20Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009801.94543538
21Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006041.94328780
22Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001301.89633645
23Caffeine metabolism_Homo sapiens_hsa002321.81278450
24Maturity onset diabetes of the young_Homo sapiens_hsa049501.81256138
25Arginine and proline metabolism_Homo sapiens_hsa003301.75052536
26Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008601.68829401
27Peroxisome_Homo sapiens_hsa041461.68224757
28Drug metabolism - other enzymes_Homo sapiens_hsa009831.64730661
29Fatty acid metabolism_Homo sapiens_hsa012121.63206978
30Starch and sucrose metabolism_Homo sapiens_hsa005001.61037512
31Cyanoamino acid metabolism_Homo sapiens_hsa004601.59390499
32Sulfur metabolism_Homo sapiens_hsa009201.54820136
33Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006031.52432902
34Bile secretion_Homo sapiens_hsa049761.30465563
35Olfactory transduction_Homo sapiens_hsa047401.28975346
36Pantothenate and CoA biosynthesis_Homo sapiens_hsa007701.28810433
37PPAR signaling pathway_Homo sapiens_hsa033201.28257608
38Fat digestion and absorption_Homo sapiens_hsa049751.27233591
39Propanoate metabolism_Homo sapiens_hsa006401.22702866
40Steroid biosynthesis_Homo sapiens_hsa001001.20353946
41Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005631.14413190
42Glycosaminoglycan degradation_Homo sapiens_hsa005311.14088247
43Tyrosine metabolism_Homo sapiens_hsa003501.13383980
44Phototransduction_Homo sapiens_hsa047441.10999706
45Linoleic acid metabolism_Homo sapiens_hsa005911.09651020
46Glycolysis / Gluconeogenesis_Homo sapiens_hsa000101.06903864
47Cysteine and methionine metabolism_Homo sapiens_hsa002701.04947666
48ABC transporters_Homo sapiens_hsa020101.03875233
49Biosynthesis of amino acids_Homo sapiens_hsa012300.97898452
50Fatty acid biosynthesis_Homo sapiens_hsa000610.97082469
512-Oxocarboxylic acid metabolism_Homo sapiens_hsa012100.96749018
52Fructose and mannose metabolism_Homo sapiens_hsa000510.95842381
53Histidine metabolism_Homo sapiens_hsa003400.92557826
54Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.92438726
55alpha-Linolenic acid metabolism_Homo sapiens_hsa005920.82495410
56Tryptophan metabolism_Homo sapiens_hsa003800.78858106
57Vitamin digestion and absorption_Homo sapiens_hsa049770.77441979
58Terpenoid backbone biosynthesis_Homo sapiens_hsa009000.76759287
59Nicotine addiction_Homo sapiens_hsa050330.71940500
60Metabolic pathways_Homo sapiens_hsa011000.71489629
61Renin-angiotensin system_Homo sapiens_hsa046140.71100748
62Carbon metabolism_Homo sapiens_hsa012000.69807430
63N-Glycan biosynthesis_Homo sapiens_hsa005100.69415168
64beta-Alanine metabolism_Homo sapiens_hsa004100.66299012
65Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049640.65384146
66Nitrogen metabolism_Homo sapiens_hsa009100.65179329
67Pyruvate metabolism_Homo sapiens_hsa006200.62867822
68RNA degradation_Homo sapiens_hsa030180.61232790
69Oxidative phosphorylation_Homo sapiens_hsa001900.60376552
70GABAergic synapse_Homo sapiens_hsa047270.59383789
71Citrate cycle (TCA cycle)_Homo sapiens_hsa000200.59305542
72Selenocompound metabolism_Homo sapiens_hsa004500.58935932
73Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005200.57681772
74Taste transduction_Homo sapiens_hsa047420.57009694
75Arachidonic acid metabolism_Homo sapiens_hsa005900.55975839
76Collecting duct acid secretion_Homo sapiens_hsa049660.55416114
77Sulfur relay system_Homo sapiens_hsa041220.53477224
78Galactose metabolism_Homo sapiens_hsa000520.52939293
79Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.50876358
80Morphine addiction_Homo sapiens_hsa050320.47827437
81Neuroactive ligand-receptor interaction_Homo sapiens_hsa040800.47300867
82Fanconi anemia pathway_Homo sapiens_hsa034600.46784283
83Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006010.38271814
84Protein export_Homo sapiens_hsa030600.37412915
85Retrograde endocannabinoid signaling_Homo sapiens_hsa047230.36285788
86Fatty acid elongation_Homo sapiens_hsa000620.34540030
87Glutathione metabolism_Homo sapiens_hsa004800.33735357
88Circadian rhythm_Homo sapiens_hsa047100.32969495
89Glycerolipid metabolism_Homo sapiens_hsa005610.27702213
90Serotonergic synapse_Homo sapiens_hsa047260.26804375
91Parkinsons disease_Homo sapiens_hsa050120.25717093
92Synaptic vesicle cycle_Homo sapiens_hsa047210.24949236
93Dopaminergic synapse_Homo sapiens_hsa047280.22532234
94RNA polymerase_Homo sapiens_hsa030200.18909468
95Folate biosynthesis_Homo sapiens_hsa007900.17602113
96Staphylococcus aureus infection_Homo sapiens_hsa051500.17494274
97Sphingolipid metabolism_Homo sapiens_hsa006000.17467631
98Glutamatergic synapse_Homo sapiens_hsa047240.17002545
99Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa009700.16558409
100Oocyte meiosis_Homo sapiens_hsa041140.15716652

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