RBMY1A1

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 protein containing an RNA-binding motif in the N-terminus and four SRGY (serine, arginine, glycine, tyrosine) boxes in the C-terminus. This protein is thought to function as a splicing regulator during spermatogenesis. Multiple closely related paralogs of this gene are found in a gene cluster in the AZFb azoospermia factor region of chromosome Y. Most of these related copies are thought to be pseudogenes, though several likely encode functional proteins. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1positive regulation of catecholamine secretion (GO:0033605)8.64190433
2gonadal mesoderm development (GO:0007506)8.17073743
3multicellular organism reproduction (GO:0032504)7.90902472
4male meiosis (GO:0007140)7.68523806
5binding of sperm to zona pellucida (GO:0007339)7.27335581
6acrosome reaction (GO:0007340)6.97085096
7regulation of phosphoprotein phosphatase activity (GO:0043666)5.81519972
8regulation of acrosome reaction (GO:0060046)5.77903360
9single fertilization (GO:0007338)5.67335836
10spermatid development (GO:0007286)5.61642266
11sperm-egg recognition (GO:0035036)5.59659901
12reproduction (GO:0000003)5.34309871
13positive regulation of synaptic transmission, dopaminergic (GO:0032226)5.18955231
14oocyte development (GO:0048599)4.81564590
15cell-cell recognition (GO:0009988)4.72546920
16regulation of oxidative phosphorylation (GO:0002082)4.72308264
17synaptonemal complex assembly (GO:0007130)4.59638773
18synaptonemal complex organization (GO:0070193)4.52969700
19regulation of bile acid biosynthetic process (GO:0070857)4.40447965
20regulation of oxidative stress-induced neuron death (GO:1903203)4.24343572
21sperm motility (GO:0030317)4.22775321
22glutamine family amino acid catabolic process (GO:0009065)4.20445643
23N-terminal protein amino acid acetylation (GO:0006474)4.14447349
24erythrose 4-phosphate/phosphoenolpyruvate family amino acid catabolic process (GO:1902222)4.12887556
25L-phenylalanine catabolic process (GO:0006559)4.12887556
26glyoxylate metabolic process (GO:0046487)4.09169496
27motile cilium assembly (GO:0044458)4.08865178
28aromatic amino acid family catabolic process (GO:0009074)4.08566163
29chromosome organization involved in meiosis (GO:0070192)4.06720845
30tryptophan catabolic process (GO:0006569)4.04724925
31indole-containing compound catabolic process (GO:0042436)4.04724925
32indolalkylamine catabolic process (GO:0046218)4.04724925
33histone lysine demethylation (GO:0070076)4.00359099
34organic cation transport (GO:0015695)3.98336686
35phenylpropanoid metabolic process (GO:0009698)3.95648849
36epithelial cilium movement (GO:0003351)3.90695822
37regulation of exit from mitosis (GO:0007096)3.89158182
38drug catabolic process (GO:0042737)3.88413058
39fertilization (GO:0009566)3.87621911
40peptidyl-glutamic acid carboxylation (GO:0017187)3.84377140
41protein carboxylation (GO:0018214)3.84377140
42androgen biosynthetic process (GO:0006702)3.82900643
43histone demethylation (GO:0016577)3.80152882
44urea metabolic process (GO:0019627)3.77659676
45oxidative demethylation (GO:0070989)3.74666371
46calcium ion-dependent exocytosis (GO:0017156)3.72157927
47daunorubicin metabolic process (GO:0044597)3.67424499
48polyketide metabolic process (GO:0030638)3.67424499
49doxorubicin metabolic process (GO:0044598)3.67424499
50synapsis (GO:0007129)3.66140986
51L-phenylalanine metabolic process (GO:0006558)3.64516462
52erythrose 4-phosphate/phosphoenolpyruvate family amino acid metabolic process (GO:1902221)3.64516462
53relaxation of smooth muscle (GO:0044557)3.60590845
54regulation of RIG-I signaling pathway (GO:0039535)3.60543067
55bile acid biosynthetic process (GO:0006699)3.60097605
56alkaloid metabolic process (GO:0009820)3.59174722
57urea cycle (GO:0000050)3.57415291
58poly(A)+ mRNA export from nucleus (GO:0016973)3.53010031
59TOR signaling (GO:0031929)3.49828087
60germ cell development (GO:0007281)3.48168891
61cilium or flagellum-dependent cell motility (GO:0001539)3.48090976
62polyamine biosynthetic process (GO:0006596)3.46808819
63tryptophan metabolic process (GO:0006568)3.43211550
64protein demethylation (GO:0006482)3.41380478
65protein dealkylation (GO:0008214)3.41380478
66indolalkylamine metabolic process (GO:0006586)3.39259502
67cofactor catabolic process (GO:0051187)3.37763876
68cilium movement (GO:0003341)3.37442413
69axonemal dynein complex assembly (GO:0070286)3.36572767
70positive regulation of amine transport (GO:0051954)3.35906444
71activation of protein kinase B activity (GO:0032148)3.35841898
72positive regulation of uterine smooth muscle contraction (GO:0070474)3.34245399
73nitrogen cycle metabolic process (GO:0071941)3.33575145
74bile acid metabolic process (GO:0008206)3.30536758
75aspartate family amino acid catabolic process (GO:0009068)3.28532685
76regulation of cytokine production involved in inflammatory response (GO:1900015)3.26913269
77meiotic nuclear division (GO:0007126)3.26727852
78aminoglycoside antibiotic metabolic process (GO:0030647)3.25456205
79cellular biogenic amine biosynthetic process (GO:0042401)3.25200995
80serine family amino acid catabolic process (GO:0009071)3.21830992
81positive regulation of meiotic cell cycle (GO:0051446)3.19933773
82male meiosis I (GO:0007141)3.19645763
83ventricular system development (GO:0021591)3.18284102
84omega-hydroxylase P450 pathway (GO:0097267)3.18255860
85citrulline biosynthetic process (GO:0019240)3.16796845
86fusion of sperm to egg plasma membrane (GO:0007342)3.16019598
87coenzyme catabolic process (GO:0009109)3.15586395
88negative regulation of hydrogen peroxide-induced cell death (GO:1903206)3.15109677
89amine biosynthetic process (GO:0009309)3.13846907
90regulation of viral-induced cytoplasmic pattern recognition receptor signaling pathway (GO:0039531)3.13248411
91potassium ion export (GO:0071435)3.11204401
92xenobiotic catabolic process (GO:0042178)3.11132061
93aromatic amino acid family metabolic process (GO:0009072)3.08979624
94dicarboxylic acid biosynthetic process (GO:0043650)3.08677094
95male sex determination (GO:0030238)3.07643600
96regulation of cellular respiration (GO:0043457)3.07384345
97drinking behavior (GO:0042756)3.07296838
98negative regulation of retinoic acid receptor signaling pathway (GO:0048387)14.3867262
99regulation of retinoic acid receptor signaling pathway (GO:0048385)12.1795219
100histone H3-K9 demethylation (GO:0033169)10.3747853

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse6.92319333
2BP1_19119308_ChIP-ChIP_Hs578T_Human6.59014343
3HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse6.38005405
4IGF1R_20145208_ChIP-Seq_DFB_Human5.09994252
5TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse4.18585137
6EZH2_22144423_ChIP-Seq_EOC_Human3.63288806
7ESR1_17901129_ChIP-ChIP_LIVER_Mouse2.89148092
8VDR_22108803_ChIP-Seq_LS180_Human2.84790650
9EGR1_23403033_ChIP-Seq_LIVER_Mouse2.77467320
10ESR1_20079471_ChIP-ChIP_T-47D_Human2.61634480
11CTBP2_25329375_ChIP-Seq_LNCAP_Human2.40169737
12PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse2.38783532
13IRF1_19129219_ChIP-ChIP_H3396_Human2.28872212
14AR_21909140_ChIP-Seq_LNCAP_Human2.27558538
15GBX2_23144817_ChIP-Seq_PC3_Human2.25905104
16VDR_20736230_ChIP-Seq_LYMPHOBLASTOID_Human2.18840192
17GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse2.16626311
18ZFP322A_24550733_ChIP-Seq_MESCs_Mouse1.90963203
19RAC3_21632823_ChIP-Seq_H3396_Human1.81850416
20CTBP1_25329375_ChIP-Seq_LNCAP_Human1.74679447
21MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human1.74501122
22AUTS2_25519132_ChIP-Seq_293T-REX_Human1.73068764
23ERA_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human1.63230114
24BCAT_22108803_ChIP-Seq_LS180_Human1.62455435
25KLF5_20875108_ChIP-Seq_MESCs_Mouse1.57354042
26NANOG_20526341_ChIP-Seq_ESCs_Human1.56889265
27UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human1.56631515
28PRDM14_20953172_ChIP-Seq_ESCs_Human1.52754870
29CEBPA_26348894_ChIP-Seq_LIVER_Mouse1.51060785
30PBX1_22567123_ChIP-ChIP_OVCAR3_Human1.50823847
31AR_21572438_ChIP-Seq_LNCaP_Human1.49656311
32IRF4_20064451_ChIP-Seq_CD4+T_Mouse1.48893114
33CBP_20019798_ChIP-Seq_JUKART_Human1.48893114
34MYC_18940864_ChIP-ChIP_HL60_Human1.46921871
35RXR_22158963_ChIP-Seq_LIVER_Mouse1.45148755
36NOTCH1_21737748_ChIP-Seq_TLL_Human1.45079971
37ZNF274_21170338_ChIP-Seq_K562_Hela1.45030594
38LXR_22158963_ChIP-Seq_LIVER_Mouse1.42008963
39CEBPB_23403033_ChIP-Seq_LIVER_Mouse1.39436278
40ERA_21632823_ChIP-Seq_H3396_Human1.39234445
41ER_23166858_ChIP-Seq_MCF-7_Human1.39183838
42OCT4_20526341_ChIP-Seq_ESCs_Human1.38877445
43SMAD4_21799915_ChIP-Seq_A2780_Human1.38768469
44SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.36294354
45OCT1_27270436_Chip-Seq_PROSTATE_Human1.35586991
46NCOR_22424771_ChIP-Seq_293T_Human1.33518474
47RUNX2_22187159_ChIP-Seq_PCA_Human1.32761629
48TOP2B_26459242_ChIP-Seq_MCF-7_Human1.29782651
49TCF12/HEB_22897851_ChIP-Seq_JUKARTE6-1_Human1.27748925
50SMAD4_21741376_ChIP-Seq_EPCs_Human1.26101909
51P300_19829295_ChIP-Seq_ESCs_Human1.24975392
52FOXO1_23066095_ChIP-Seq_LIVER_Mouse1.22213338
53CBP_21632823_ChIP-Seq_H3396_Human1.21926069
54TBL1_22424771_ChIP-Seq_293T_Human1.21904836
55FUS_26573619_Chip-Seq_HEK293_Human1.21073919
56STAT3_23295773_ChIP-Seq_U87_Human1.19702223
57AR_25329375_ChIP-Seq_VCAP_Human1.17142472
58CHD7_19251738_ChIP-ChIP_MESCs_Mouse1.15955259
59NANOG_19829295_ChIP-Seq_ESCs_Human1.13574169
60SOX2_19829295_ChIP-Seq_ESCs_Human1.13574169
61AHR_22903824_ChIP-Seq_MCF-7_Human1.13454691
62RXR_22108803_ChIP-Seq_LS180_Human1.13097477
63MYC_19829295_ChIP-Seq_ESCs_Human1.11203800
64CTCF_20526341_ChIP-Seq_ESCs_Human1.10923501
65GATA3_26560356_Chip-Seq_TH1_Human1.09554530
66ESET_19884257_ChIP-Seq_ESCs_Mouse1.08924224
67TCF4_23295773_ChIP-Seq_U87_Human1.04504307
68TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.99770862
69POU5F1_26923725_Chip-Seq_MESODERM_Mouse0.99770862
70ARNT_22903824_ChIP-Seq_MCF-7_Human0.98648635
71TAL1_22897851_ChIP-Seq_JUKARTE6-1_Human0.98345333
72SMAD3_21741376_ChIP-Seq_EPCs_Human0.97970815
73GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse0.97764176
74HOXB7_26014856_ChIP-Seq_BT474_Human0.96375929
75EBNA1_20929547_Chip-Seq_RAJI-cells_Human0.96155958
76EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human0.95687502
77FOXH1_21741376_ChIP-Seq_EPCs_Human0.95240140
78TCF4_22108803_ChIP-Seq_LS180_Human0.94575062
79P300_27268052_Chip-Seq_Bcells_Human0.94476894
80PHF8_20622853_ChIP-Seq_HELA_Human0.90772324
81GATA2_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.90038775
82NFYB_21822215_ChIP-Seq_K562_Human0.89038724
83CDX2_21074721_ChIP-Seq_CACO-2_Mouse0.88321687
84MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human0.87438284
85GATA3_26560356_Chip-Seq_TH2_Human0.87132569
86PPARA_22158963_ChIP-Seq_LIVER_Mouse0.85805290
87RBPJ_21746931_ChIP-Seq_IB4_Human0.85729535
88TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human0.85679953
89NR3C1_21868756_ChIP-Seq_MCF10A_Human0.85208843
90ERG_20517297_ChIP-Seq_VCAP_Human0.85071873
91* KAP1_22055183_ChIP-Seq_ESCs_Mouse0.83963732
92TP63_23658742_ChIP-Seq_EP156T_Human0.82722426
93* GF1_26923725_Chip-Seq_HPCs_Mouse0.82154604
94STAT1_20625510_ChIP-Seq_HELA_Human0.80676175
95GATA3_22897851_ChIP-Seq_JUKARTE6-1_Human0.80434909
96SPI1_20517297_ChIP-Seq_HL60_Human0.80433849
97SMAD4_21741376_ChIP-Seq_HESCs_Human0.80393019
98HNFA_21074721_ChIP-Seq_CACO-2_Human0.79096327
99GATA1_22025678_ChIP-Seq_K562_Human0.78894854
100HTT_18923047_ChIP-ChIP_STHdh_Human0.77267165

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0005360_urolithiasis7.82879888
2MP0005410_abnormal_fertilization6.18147895
3MP0003868_abnormal_feces_composition3.83814322
4MP0002139_abnormal_hepatobiliary_system3.77780391
5MP0009697_abnormal_copulation3.72999929
6MP0005085_abnormal_gallbladder_physiolo3.50032167
7MP0002160_abnormal_reproductive_system3.36315708
8MP0003315_abnormal_perineum_morphology3.29594147
9MP0002138_abnormal_hepatobiliary_system2.81778119
10MP0009840_abnormal_foam_cell2.77023387
11MP0003806_abnormal_nucleotide_metabolis2.75159000
12MP0005365_abnormal_bile_salt2.75099800
13MP0003136_yellow_coat_color2.58550062
14MP0001929_abnormal_gametogenesis2.55279847
15MP0006292_abnormal_olfactory_placode2.49621931
16MP0008004_abnormal_stomach_pH2.49134858
17MP0001666_abnormal_nutrient_absorption2.43586641
18MP0005647_abnormal_sex_gland2.23231054
19MP0003698_abnormal_male_reproductive2.22392073
20MP0008875_abnormal_xenobiotic_pharmacok1.98688631
21MP0010386_abnormal_urinary_bladder1.94438952
22MP0001664_abnormal_digestion1.93191035
23MP0003283_abnormal_digestive_organ1.84207667
24MP0003195_calcinosis1.78365373
25MP0003718_maternal_effect1.76733235
26MP0003693_abnormal_embryo_hatching1.75135527
27MP0002090_abnormal_vision1.72624632
28MP0002210_abnormal_sex_determination1.71774291
29MP0001764_abnormal_homeostasis1.70507145
30MP0005389_reproductive_system_phenotype1.62721205
31MP0004019_abnormal_vitamin_homeostasis1.57714943
32MP0000678_abnormal_parathyroid_gland1.57702441
33MP0005187_abnormal_penis_morphology1.51697343
34MP0005646_abnormal_pituitary_gland1.48139230
35MP0002161_abnormal_fertility/fecundity1.45326691
36MP0005058_abnormal_lysosome_morphology1.44699964
37MP0000653_abnormal_sex_gland1.39754099
38MP0006276_abnormal_autonomic_nervous1.39720758
39MP0001986_abnormal_taste_sensitivity1.37564915
40MP0009379_abnormal_foot_pigmentation1.29899102
41MP0008058_abnormal_DNA_repair1.28984948
42MP0003950_abnormal_plasma_membrane1.28137361
43MP0002127_abnormal_cardiovascular_syste1.26824290
44MP0001145_abnormal_male_reproductive1.24688079
45MP0002132_abnormal_respiratory_system1.23260862
46MP0003252_abnormal_bile_duct1.18714611
47MP0006036_abnormal_mitochondrial_physio1.16780541
48MP0001502_abnormal_circadian_rhythm1.14787103
49MP0005395_other_phenotype1.10662870
50MP0010368_abnormal_lymphatic_system1.08132660
51MP0003045_fibrosis1.08075816
52MP0003699_abnormal_female_reproductive1.05104950
53MP0005394_taste/olfaction_phenotype1.04502464
54MP0005499_abnormal_olfactory_system1.04502464
55MP0010329_abnormal_lipoprotein_level1.02199050
56MP0005220_abnormal_exocrine_pancreas0.96336896
57MP0001984_abnormal_olfaction0.93288698
58MP0000462_abnormal_digestive_system0.82330157
59MP0003879_abnormal_hair_cell0.79826644
60MP0000427_abnormal_hair_cycle0.79092053
61MP0006072_abnormal_retinal_apoptosis0.77912357
62MP0003186_abnormal_redox_activity0.76957390
63MP0003936_abnormal_reproductive_system0.76597509
64MP0004272_abnormal_basement_membrane0.76031524
65MP0008995_early_reproductive_senescence0.73450603
66MP0001119_abnormal_female_reproductive0.72653119
67MP0003938_abnormal_ear_development0.69342925
68MP0000470_abnormal_stomach_morphology0.68986785
69MP0002118_abnormal_lipid_homeostasis0.68383179
70MP0005332_abnormal_amino_acid0.68328195
71MP0001501_abnormal_sleep_pattern0.64084772
72MP0002102_abnormal_ear_morphology0.63305385
73MP0000049_abnormal_middle_ear0.63132009
74MP0001529_abnormal_vocalization0.62752199
75MP0000631_abnormal_neuroendocrine_gland0.59341911
76MP0005423_abnormal_somatic_nervous0.58396142
77MP0000537_abnormal_urethra_morphology0.56904174
78MP0001440_abnormal_grooming_behavior0.56432850
79MP0005376_homeostasis/metabolism_phenot0.54784141
80MP0010094_abnormal_chromosome_stability0.54032094
81MP0002272_abnormal_nervous_system0.53877122
82MP0000230_abnormal_systemic_arterial0.52879419
83MP0000538_abnormal_urinary_bladder0.52403235
84MP0003119_abnormal_digestive_system0.52358933
85MP0005551_abnormal_eye_electrophysiolog0.50607009
86MP0002229_neurodegeneration0.49680191
87MP0003959_abnormal_lean_body0.48619218
88MP0004233_abnormal_muscle_weight0.48093821
89MP0005334_abnormal_fat_pad0.47846000
90MP0001905_abnormal_dopamine_level0.46547589
91MP0003077_abnormal_cell_cycle0.45218262
92MP0002277_abnormal_respiratory_mucosa0.44338809
93MP0002751_abnormal_autonomic_nervous0.43572469
94MP0003866_abnormal_defecation0.42236406
95MP0001944_abnormal_pancreas_morphology0.41883554
96MP0005319_abnormal_enzyme/_coenzyme0.41435546
97MP0000465_gastrointestinal_hemorrhage0.41124212
98MP0001919_abnormal_reproductive_system0.41048257
99MP0004085_abnormal_heartbeat0.40378281
100MP0002876_abnormal_thyroid_physiology0.39386280

Predicted human phenotypes

RankGene SetZ-score
1Abnormal sex determination (HP:0012244)6.16567074
2Sex reversal (HP:0012245)6.16567074
3Hypoplasia of the uterus (HP:0000013)5.79779053
4Reduced antithrombin III activity (HP:0001976)5.45137210
5Abnormality of monocarboxylic acid metabolism (HP:0010996)5.43744555
6Deep venous thrombosis (HP:0002625)5.28160460
7Respiratory insufficiency due to defective ciliary clearance (HP:0200073)5.17428902
8Premature ovarian failure (HP:0008209)4.97950720
9Prolonged partial thromboplastin time (HP:0003645)4.68798368
10Aplasia/hypoplasia of the uterus (HP:0008684)4.49122237
11Gonadal dysgenesis (HP:0000133)4.40850868
12Abnormal respiratory motile cilium physiology (HP:0012261)4.17137727
13Abnormal ciliary motility (HP:0012262)4.10759591
14Resting tremor (HP:0002322)4.02972575
15Congenital sensorineural hearing impairment (HP:0008527)3.74685755
16Dynein arm defect of respiratory motile cilia (HP:0012255)3.70438862
17Absent/shortened dynein arms (HP:0200106)3.70438862
18Facial hemangioma (HP:0000329)3.57733906
19Infertility (HP:0000789)3.50065161
20Atonic seizures (HP:0010819)3.36370221
21Male pseudohermaphroditism (HP:0000037)3.29007382
22Median cleft lip (HP:0000161)3.26193938
23Abnormality of the intrinsic pathway (HP:0010989)3.26019646
24Retinal atrophy (HP:0001105)3.17916063
25Rhinitis (HP:0012384)3.09117689
26Abnormality of glutamine family amino acid metabolism (HP:0010902)3.07524741
27Abnormality of aromatic amino acid family metabolism (HP:0004338)3.06916118
28Urinary urgency (HP:0000012)2.91572970
29Abnormality of pyrimidine metabolism (HP:0004353)2.87938794
30Male infertility (HP:0003251)2.86778105
31Postural instability (HP:0002172)2.76056693
32Short tibia (HP:0005736)2.73223822
33Abnormal respiratory epithelium morphology (HP:0012253)2.73113207
34Abnormal respiratory motile cilium morphology (HP:0005938)2.73113207
35Generalized aminoaciduria (HP:0002909)2.70520619
36Hypobetalipoproteinemia (HP:0003563)2.67566300
37Sensory axonal neuropathy (HP:0003390)2.66156253
38Aplasia/Hypoplasia of the tibia (HP:0005772)2.65900777
39Abnormality of urine glucose concentration (HP:0011016)2.65615910
40Glycosuria (HP:0003076)2.65615910
41Osteomalacia (HP:0002749)2.62527797
42Abnormality of the columella (HP:0009929)2.56277440
43Abnormality of long-chain fatty-acid metabolism (HP:0010964)2.56165402
44Ventricular fibrillation (HP:0001663)2.49669741
45Absent rod-and cone-mediated responses on ERG (HP:0007688)2.46799899
46Decreased subcutaneous fat (HP:0001002)2.46166302
47Joint hemorrhage (HP:0005261)2.44525924
48Cerebellar dysplasia (HP:0007033)2.42559005
49Hyperlipoproteinemia (HP:0010980)2.39467712
50Abnormal auditory evoked potentials (HP:0006958)2.39273318
51Intrahepatic cholestasis (HP:0001406)2.37060426
52Abnormal pupillary function (HP:0007686)2.35282356
53Thoracic kyphosis (HP:0002942)2.31709459
54Bony spicule pigmentary retinopathy (HP:0007737)2.26933138
55Abnormality of male internal genitalia (HP:0000022)2.26268234
56Decreased number of peripheral myelinated nerve fibers (HP:0003380)2.25644364
57Microglossia (HP:0000171)2.25136861
58Conjugated hyperbilirubinemia (HP:0002908)2.24286547
59Anterior segment dysgenesis (HP:0007700)2.23663849
60Adrenal hypoplasia (HP:0000835)2.23161783
61Abnormality of nucleobase metabolism (HP:0010932)2.20904592
62Colitis (HP:0002583)2.14004639
63Abnormality of the nasal septum (HP:0000419)2.13877582
64Thoracolumbar scoliosis (HP:0002944)2.12512940
65Self-mutilation (HP:0000742)2.12306263
66Capillary hemangiomas (HP:0005306)2.12219011
67Chronic bronchitis (HP:0004469)2.08155838
68Impulsivity (HP:0100710)2.05899458
69Germ cell neoplasia (HP:0100728)2.05860360
70Abnormality of the thoracic spine (HP:0100711)2.04758891
71Abnormality of lateral ventricle (HP:0030047)2.04684292
72Absent thumb (HP:0009777)2.03307194
73Hypothermia (HP:0002045)2.02775362
74Hyperammonemia (HP:0001987)2.00149520
75Enlarged kidneys (HP:0000105)1.99352178
76Abnormality of subcutaneous fat tissue (HP:0001001)1.97295029
77Abnormality of dental color (HP:0011073)1.97071543
78Hypophosphatemic rickets (HP:0004912)1.95550031
79Tetany (HP:0001281)1.94457582
80Spontaneous abortion (HP:0005268)1.93313773
81Abnormal pancreas size (HP:0012094)1.92056342
82Abnormality of the lumbar spine (HP:0100712)1.91405728
83Abnormality of purine metabolism (HP:0004352)1.90180583
84Abnormality of serum amino acid levels (HP:0003112)1.90129897
85Abnormality of the ileum (HP:0001549)1.88010656
86Abnormality of macular pigmentation (HP:0008002)1.83193086
87Facial cleft (HP:0002006)1.77272865
88Atrophy/Degeneration involving the corticospinal tracts (HP:0007372)1.76979098
89Degeneration of the lateral corticospinal tracts (HP:0002314)1.76979098
90Fair hair (HP:0002286)1.74332031
91Abnormality of sulfur amino acid metabolism (HP:0004339)1.72968437
92Prolonged neonatal jaundice (HP:0006579)1.72959949
93Abnormality of the frontal sinuses (HP:0002687)1.71949796
94Complement deficiency (HP:0004431)1.70922540
95Hyperglycinemia (HP:0002154)1.69327242
96Abnormality of pyruvate family amino acid metabolism (HP:0010915)1.68989184
97Abnormality of alanine metabolism (HP:0010916)1.68989184
98Hyperalaninemia (HP:0003348)1.68989184
99Attenuation of retinal blood vessels (HP:0007843)1.68616256
100Meckel diverticulum (HP:0002245)1.68568661

Predicted kinase interactions (KEA)

RankGene SetZ-score
1PINK19.38674097
2MARK35.17770305
3ZAK4.23176468
4TLK14.04741419
5STK163.97668406
6RPS6KA52.56408881
7MYLK2.43400619
8LATS22.12608871
9NEK22.06922173
10LATS11.88652614
11CDK191.76608605
12VRK11.56674688
13ADRBK21.56383379
14CDK121.52270642
15AURKA1.49380209
16TESK21.38329082
17EIF2AK31.35191065
18PLK41.32589757
19PBK1.24607786
20TAOK31.22312707
21FRK1.22227991
22SRPK11.20914346
23STK38L1.09527365
24ARAF1.08087127
25TNIK1.07703518
26BMPR1B1.00617540
27CDK30.98876061
28MELK0.98008989
29PKN10.94079160
30STK390.90547400
31PLK10.88940192
32ICK0.87178270
33AURKB0.83874807
34ACVR1B0.80882961
35MAP3K100.80354036
36PRKCQ0.72575834
37MAP3K50.72346321
38STK380.70289104
39SGK4940.69271105
40SGK2230.69271105
41PAK10.68665230
42BRAF0.67540875
43WNK30.65120667
44AKT20.64839845
45TEC0.59761072
46NME20.58434655
47CHEK20.55284665
48BUB10.52622685
49OBSCN0.50438908
50WNK10.49858629
51PAK20.49534152
52PRKG10.48581761
53MAP2K70.46431379
54MST1R0.45169246
55CDC70.43819318
56ATM0.43691522
57CLK10.43627479
58OXSR10.42685609
59CDC42BPA0.42381464
60GRK10.42141652
61MAP3K90.41807518
62PIM10.41470134
63CHEK10.41193037
64CDK140.40740909
65DYRK30.40674392
66CSNK2A10.39473790
67TTK0.38441469
68PDK20.37264362
69MAPK120.36840160
70NLK0.36235113
71FGR0.35476805
72PDPK10.34656171
73CSNK1E0.33781534
74RPS6KA30.33322480
75CSNK2A20.33202539
76MTOR0.33177860
77CAMK10.33008538
78PRKG20.32671368
79MAP3K30.32568899
80PIK3CA0.31433569
81RPS6KB10.31304589
82CDK80.30818787
83TGFBR10.29781937
84MAP2K30.29621352
85ILK0.29063872
86SGK20.28756773
87BRD40.28630402
88EPHA40.28607135
89STK30.28504760
90CDK70.28302028
91MAPK150.28100702
92RPS6KA10.27827787
93CDK50.27238961
94CSNK1D0.25862043
95MAPK10.25606650
96MARK20.25515758
97TIE10.25133431
98MOS0.24270385
99PIM20.24046106
100PDK10.23955004

Predicted pathways (KEGG)

RankGene SetZ-score
1Primary bile acid biosynthesis_Homo sapiens_hsa001204.14002043
2Arginine biosynthesis_Homo sapiens_hsa002203.70398309
3Pathogenic Escherichia coli infection_Homo sapiens_hsa051303.61497412
4Steroid hormone biosynthesis_Homo sapiens_hsa001403.15944653
5Drug metabolism - cytochrome P450_Homo sapiens_hsa009822.75334162
6Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005332.73951164
7Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009802.71101183
8Chemical carcinogenesis_Homo sapiens_hsa052042.47321240
9Cysteine and methionine metabolism_Homo sapiens_hsa002702.46185170
10Bile secretion_Homo sapiens_hsa049762.45860880
11Gap junction_Homo sapiens_hsa045402.35204845
12Retinol metabolism_Homo sapiens_hsa008302.23127709
13Complement and coagulation cascades_Homo sapiens_hsa046102.21862399
14Sulfur metabolism_Homo sapiens_hsa009202.11354303
15Glycine, serine and threonine metabolism_Homo sapiens_hsa002602.08966199
16Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030081.99542425
17Systemic lupus erythematosus_Homo sapiens_hsa053221.95754033
18Ascorbate and aldarate metabolism_Homo sapiens_hsa000531.89809871
19Phenylalanine metabolism_Homo sapiens_hsa003601.86036658
20Pentose and glucuronate interconversions_Homo sapiens_hsa000401.83007778
21Glycolysis / Gluconeogenesis_Homo sapiens_hsa000101.77141076
22Nitrogen metabolism_Homo sapiens_hsa009101.67994687
23Tryptophan metabolism_Homo sapiens_hsa003801.64334623
24Tyrosine metabolism_Homo sapiens_hsa003501.64096211
25Hedgehog signaling pathway_Homo sapiens_hsa043401.62978368
26PPAR signaling pathway_Homo sapiens_hsa033201.53982763
27Glutathione metabolism_Homo sapiens_hsa004801.46175159
28Butanoate metabolism_Homo sapiens_hsa006501.43399303
29Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002501.42762390
30Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049641.42282462
31Pyruvate metabolism_Homo sapiens_hsa006201.42092215
32Maturity onset diabetes of the young_Homo sapiens_hsa049501.41751876
33Drug metabolism - other enzymes_Homo sapiens_hsa009831.39647925
34Histidine metabolism_Homo sapiens_hsa003401.37880252
35Basal transcription factors_Homo sapiens_hsa030221.36519855
36Dorso-ventral axis formation_Homo sapiens_hsa043201.35244843
37Fatty acid degradation_Homo sapiens_hsa000711.32744069
38Apoptosis_Homo sapiens_hsa042101.30157688
39Alcoholism_Homo sapiens_hsa050341.27448543
40Propanoate metabolism_Homo sapiens_hsa006401.19714684
41Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004001.19011953
42Sulfur relay system_Homo sapiens_hsa041221.18583193
43Linoleic acid metabolism_Homo sapiens_hsa005911.12885997
44Peroxisome_Homo sapiens_hsa041461.12434617
45Phagosome_Homo sapiens_hsa041451.02544144
46Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006300.99056321
47Olfactory transduction_Homo sapiens_hsa047400.98097598
48mRNA surveillance pathway_Homo sapiens_hsa030150.94204185
49Starch and sucrose metabolism_Homo sapiens_hsa005000.93742802
50Arachidonic acid metabolism_Homo sapiens_hsa005900.92667498
51Ribosome_Homo sapiens_hsa030100.91330444
52Pentose phosphate pathway_Homo sapiens_hsa000300.89405017
53Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.89346834
54Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001300.86709629
55Progesterone-mediated oocyte maturation_Homo sapiens_hsa049140.85083139
56Biosynthesis of amino acids_Homo sapiens_hsa012300.78279171
57Fatty acid biosynthesis_Homo sapiens_hsa000610.76943947
58Arginine and proline metabolism_Homo sapiens_hsa003300.74566899
59RNA transport_Homo sapiens_hsa030130.72671351
60Oocyte meiosis_Homo sapiens_hsa041140.72444361
61Pantothenate and CoA biosynthesis_Homo sapiens_hsa007700.70525191
62beta-Alanine metabolism_Homo sapiens_hsa004100.68602380
63Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008600.68525802
64Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010400.67057356
65Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.64026762
66Synthesis and degradation of ketone bodies_Homo sapiens_hsa000720.61175330
67Metabolic pathways_Homo sapiens_hsa011000.56294099
68Taurine and hypotaurine metabolism_Homo sapiens_hsa004300.55287949
69Regulation of autophagy_Homo sapiens_hsa041400.49789017
70Fructose and mannose metabolism_Homo sapiens_hsa000510.49704271
71RNA polymerase_Homo sapiens_hsa030200.46177678
72Carbon metabolism_Homo sapiens_hsa012000.45290954
73ABC transporters_Homo sapiens_hsa020100.45205930
74Ovarian steroidogenesis_Homo sapiens_hsa049130.40465028
75Vitamin B6 metabolism_Homo sapiens_hsa007500.39430085
76Glucagon signaling pathway_Homo sapiens_hsa049220.36266399
772-Oxocarboxylic acid metabolism_Homo sapiens_hsa012100.35154462
78Taste transduction_Homo sapiens_hsa047420.33998707
79Pyrimidine metabolism_Homo sapiens_hsa002400.32740937
80Homologous recombination_Homo sapiens_hsa034400.31322511
81Fanconi anemia pathway_Homo sapiens_hsa034600.30673240
82Lysine degradation_Homo sapiens_hsa003100.30310342
83Purine metabolism_Homo sapiens_hsa002300.30222713
84Fatty acid metabolism_Homo sapiens_hsa012120.28675359
85One carbon pool by folate_Homo sapiens_hsa006700.28147471
86Glycerolipid metabolism_Homo sapiens_hsa005610.27735739
87Valine, leucine and isoleucine degradation_Homo sapiens_hsa002800.26504833
88Serotonergic synapse_Homo sapiens_hsa047260.23590863
89Transcriptional misregulation in cancer_Homo sapiens_hsa052020.22158002
90SNARE interactions in vesicular transport_Homo sapiens_hsa041300.20630012
91DNA replication_Homo sapiens_hsa030300.19939998
92Mismatch repair_Homo sapiens_hsa034300.19432048
93RNA degradation_Homo sapiens_hsa030180.19168302
94Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.17509199
95Glycerophospholipid metabolism_Homo sapiens_hsa005640.16856655
96N-Glycan biosynthesis_Homo sapiens_hsa005100.15530038
97Cyanoamino acid metabolism_Homo sapiens_hsa004600.15251225
98cGMP-PKG signaling pathway_Homo sapiens_hsa040220.13864893
99Folate biosynthesis_Homo sapiens_hsa007900.09152391
100Vitamin digestion and absorption_Homo sapiens_hsa049770.08846926

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