SF3A3P2

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
1adult feeding behavior (GO:0008343)9.59799559
2adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)8.55281378
3regulation of acrosome reaction (GO:0060046)7.97202976
4regulation of protein glycosylation (GO:0060049)7.71258543
5positive regulation of cAMP-mediated signaling (GO:0043950)7.54651855
6negative regulation of nitric oxide biosynthetic process (GO:0045019)7.18303331
7sphingosine metabolic process (GO:0006670)6.97979614
8piRNA metabolic process (GO:0034587)6.75480522
9thrombin receptor signaling pathway (GO:0070493)6.42553817
10glycerol ether metabolic process (GO:0006662)6.36439912
11diol metabolic process (GO:0034311)6.28721424
12sphingoid metabolic process (GO:0046519)5.98437644
13ether metabolic process (GO:0018904)5.87452334
14DNA replication-dependent nucleosome assembly (GO:0006335)5.71115359
15DNA replication-dependent nucleosome organization (GO:0034723)5.71115359
16negative regulation of glycoprotein biosynthetic process (GO:0010561)5.47803609
17notochord development (GO:0030903)5.44142580
18regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)5.12334739
19ncRNA catabolic process (GO:0034661)5.00168559
20regulation of glutamate receptor signaling pathway (GO:1900449)4.96438908
21cellular response to ammonium ion (GO:0071242)4.90420241
22mRNA cleavage (GO:0006379)4.89425468
23regulation of cAMP-mediated signaling (GO:0043949)4.79577504
24regulation of ER to Golgi vesicle-mediated transport (GO:0060628)4.71977424
25signal complex assembly (GO:0007172)4.45623262
26pyrimidine dimer repair (GO:0006290)4.40284405
27cellular response to alkaloid (GO:0071312)4.36798408
28N-terminal protein amino acid acetylation (GO:0006474)3.95281586
29negative regulation of glycoprotein metabolic process (GO:1903019)3.90205561
30vitamin catabolic process (GO:0009111)3.86497864
31fat-soluble vitamin catabolic process (GO:0042363)3.86497864
32coenzyme catabolic process (GO:0009109)3.83097767
33negative regulation of adenylate cyclase activity (GO:0007194)3.79699048
34regulation of female receptivity (GO:0045924)3.74443696
35regulation of translational elongation (GO:0006448)3.73806053
36RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)3.66754117
37glomerular visceral epithelial cell development (GO:0072015)3.66462828
38negative regulation of cyclase activity (GO:0031280)3.60032034
39negative regulation of lyase activity (GO:0051350)3.53947943
40nuclear-transcribed mRNA catabolic process, exonucleolytic (GO:0000291)3.52741826
41signal peptide processing (GO:0006465)3.52627020
42response to morphine (GO:0043278)3.49941128
43negative regulation of cell-matrix adhesion (GO:0001953)3.49863526
44negative regulation of exocytosis (GO:0045920)3.46543594
45cornea development in camera-type eye (GO:0061303)3.43355956
46response to isoquinoline alkaloid (GO:0014072)3.40434344
47replication fork processing (GO:0031297)3.37319348
48female mating behavior (GO:0060180)3.36170317
49glycosphingolipid metabolic process (GO:0006687)3.35684937
50detection of chemical stimulus involved in sensory perception of smell (GO:0050911)3.35471954
51DNA deamination (GO:0045006)3.30466685
52omega-hydroxylase P450 pathway (GO:0097267)3.29936081
53positive regulation of cardiac muscle cell differentiation (GO:2000727)3.24018049
54glomerular epithelial cell development (GO:0072310)3.18297946
55thyroid hormone generation (GO:0006590)3.18133165
56positive regulation of fatty acid transport (GO:2000193)3.09917507
57positive regulation of icosanoid secretion (GO:0032305)3.09086097
58regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor act3.08589054
59neuronal action potential (GO:0019228)3.06185340
60ribonucleoprotein complex disassembly (GO:0032988)3.03737370
61thyroid hormone metabolic process (GO:0042403)2.96120421
62regulation of odontogenesis (GO:0042481)2.95446475
63positive regulation of nitric oxide biosynthetic process (GO:0045429)2.89474091
64detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)2.85128001
65glycolipid metabolic process (GO:0006664)2.84682235
66DNA synthesis involved in DNA repair (GO:0000731)2.84052127
67regulation of rhodopsin mediated signaling pathway (GO:0022400)2.80727251
68regulation of calcium ion-dependent exocytosis (GO:0017158)2.79971183
69detection of light stimulus involved in sensory perception (GO:0050962)2.79778121
70detection of light stimulus involved in visual perception (GO:0050908)2.79778121
71urate metabolic process (GO:0046415)2.78792614
72preassembly of GPI anchor in ER membrane (GO:0016254)2.77028347
73membrane lipid metabolic process (GO:0006643)2.75915192
74wound healing, spreading of epidermal cells (GO:0035313)2.74872778
75response to caffeine (GO:0031000)2.74798989
76gene silencing by RNA (GO:0031047)2.74702687
77regulation of memory T cell differentiation (GO:0043380)2.74052267
78quinone biosynthetic process (GO:1901663)2.73856097
79cell-cell junction maintenance (GO:0045217)2.72281421
80negative regulation of cAMP biosynthetic process (GO:0030818)2.70523383
81regulation of nuclear cell cycle DNA replication (GO:0033262)2.69843602
82left/right axis specification (GO:0070986)2.68688114
83liposaccharide metabolic process (GO:1903509)2.67656420
84membrane depolarization during action potential (GO:0086010)2.66777970
85spermatid development (GO:0007286)2.66451592
86glomerular basement membrane development (GO:0032836)2.65905413
87sensory perception of pain (GO:0019233)2.61928022
88resolution of meiotic recombination intermediates (GO:0000712)2.61304926
89dopamine receptor signaling pathway (GO:0007212)2.61012377
90negative regulation of cyclic nucleotide biosynthetic process (GO:0030803)2.59184862
91maintenance of fidelity involved in DNA-dependent DNA replication (GO:0045005)2.56275895
92transmission of nerve impulse (GO:0019226)2.53733457
93indolalkylamine metabolic process (GO:0006586)2.53502044
94negative regulation of cytosolic calcium ion concentration (GO:0051481)14.9988661
95negative regulation of cAMP-mediated signaling (GO:0043951)12.7685296
96opioid receptor signaling pathway (GO:0038003)11.2119165
97ether lipid metabolic process (GO:0046485)10.7349891
98regulation of translational termination (GO:0006449)10.1871984
99behavioral response to ethanol (GO:0048149)10.0366391
100negative regulation of calcium ion-dependent exocytosis (GO:0045955)10.0290142

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse4.43514418
2FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse4.22630105
3VDR_22108803_ChIP-Seq_LS180_Human3.83963988
4GLI1_17442700_ChIP-ChIP_MESCs_Mouse3.80740240
5PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse3.79201699
6POU5F1_26923725_Chip-Seq_MESODERM_Mouse2.94879381
7TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse2.94879381
8TAF15_26573619_Chip-Seq_HEK293_Human2.74997824
9ZNF274_21170338_ChIP-Seq_K562_Hela2.55067665
10RXR_22108803_ChIP-Seq_LS180_Human2.50839918
11RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse2.47458434
12MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human2.19412506
13FLI1_27457419_Chip-Seq_LIVER_Mouse2.17928956
14PCGF2_27294783_Chip-Seq_ESCs_Mouse2.16535368
15NANOG_19829295_ChIP-Seq_ESCs_Human2.13502285
16SOX2_19829295_ChIP-Seq_ESCs_Human2.13502285
17GBX2_23144817_ChIP-Seq_PC3_Human2.12675346
18PCGF2_27294783_Chip-Seq_NPCs_Mouse2.07053877
19EGR1_19032775_ChIP-ChIP_M12_Human2.04085827
20BCAT_22108803_ChIP-Seq_LS180_Human2.03270844
21ZFP57_27257070_Chip-Seq_ESCs_Mouse2.02829133
22SUZ12_27294783_Chip-Seq_NPCs_Mouse1.95819974
23GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.89686547
24SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.88265838
25IRF4_20064451_ChIP-Seq_CD4+T_Mouse1.86191088
26CBP_20019798_ChIP-Seq_JUKART_Human1.86191088
27POU3F2_20337985_ChIP-ChIP_501MEL_Human1.85150652
28HTT_18923047_ChIP-ChIP_STHdh_Human1.83133673
29MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse1.81503219
30NFE2_27457419_Chip-Seq_LIVER_Mouse1.77606973
31FOXP3_17237761_ChIP-ChIP_TREG_Mouse1.74485111
32TRIM28_17542650_ChIP-ChIP_NTERA2_Human1.70885182
33CEBPB_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.66067673
34IRF1_19129219_ChIP-ChIP_H3396_Human1.65975045
35TCF4_23295773_ChIP-Seq_U87_Human1.62490818
36STAT3_23295773_ChIP-Seq_U87_Human1.57045519
37CTBP2_25329375_ChIP-Seq_LNCAP_Human1.55631710
38EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human1.52913024
39EZH2_27294783_Chip-Seq_NPCs_Mouse1.51451428
40P300_19829295_ChIP-Seq_ESCs_Human1.51214795
41PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.46516314
42FUS_26573619_Chip-Seq_HEK293_Human1.42665385
43IGF1R_20145208_ChIP-Seq_DFB_Human1.41104733
44NANOG_20526341_ChIP-Seq_ESCs_Human1.39781668
45PBX1_22567123_ChIP-ChIP_OVCAR3_Human1.37706595
46CTBP1_25329375_ChIP-Seq_LNCAP_Human1.35584666
47TP53_22573176_ChIP-Seq_HFKS_Human1.35413543
48CDX2_22108803_ChIP-Seq_LS180_Human1.35286885
49SMAD3_21741376_ChIP-Seq_EPCs_Human1.34551477
50FLI1_21867929_ChIP-Seq_TH2_Mouse1.34214693
51CRX_20693478_ChIP-Seq_RETINA_Mouse1.31262538
52SOX9_26525672_Chip-Seq_Limbbuds_Mouse1.30981158
53VDR_23401126_ChIP-Seq_LCL-AND-THP1_Human1.24788776
54TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human1.24198449
55TP53_18474530_ChIP-ChIP_U2OS_Human1.21752161
56GABP_17652178_ChIP-ChIP_JURKAT_Human1.18861598
57GATA3_21878914_ChIP-Seq_MCF-7_Human1.16961770
58PRDM14_20953172_ChIP-Seq_ESCs_Human1.15235626
59TAL1_21186366_ChIP-Seq_BM-HSCs_Mouse1.13828435
60TCF4_22108803_ChIP-Seq_LS180_Human1.13559581
61AR_25329375_ChIP-Seq_VCAP_Human1.12816037
62CEBPD_23245923_ChIP-Seq_MEFs_Mouse1.11984843
63RUNX_20019798_ChIP-Seq_JUKART_Human1.11442425
64CDX2_21402776_ChIP-Seq_INTESTINAL-VILLUS_Mouse1.11376017
65SMAD4_21799915_ChIP-Seq_A2780_Human1.11150694
66MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse1.10719164
67OCT4_21477851_ChIP-Seq_ESCs_Mouse1.09838230
68FOXH1_21741376_ChIP-Seq_ESCs_Human1.08963133
69CEBPB_26923725_Chip-Seq_MESODERM_Mouse1.08066580
70SOX6_21985497_ChIP-Seq_MYOTUBES_Mouse1.07601960
71KLF4_25985364_ChIP-Seq_ATHEROSCLEROSIS_LESION_Mouse1.07470413
72AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human1.06771976
73BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human1.05935469
74CEBPB_22108803_ChIP-Seq_LS180_Human1.05810380
75ER_23166858_ChIP-Seq_MCF-7_Human1.05516804
76BP1_19119308_ChIP-ChIP_Hs578T_Human1.05284785
77RUNX1_22897851_ChIP-Seq_JUKARTE6-1_Human1.05227612
78PIAS1_25552417_ChIP-Seq_VCAP_Human1.03772591
79SMAD4_21741376_ChIP-Seq_EPCs_Human1.03599649
80NOTCH1_21737748_ChIP-Seq_TLL_Human1.02042209
81UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human1.01138764
82CEBPA_23403033_ChIP-Seq_LIVER_Mouse1.00957004
83TOP2B_26459242_ChIP-Seq_MCF-7_Human0.99637802
84DROSHA_22980978_ChIP-Seq_HELA_Human0.98765069
85TEAD4_22529382_ChIP-Seq_TROPHECTODERM_Mouse0.98508461
86VDR_20736230_ChIP-Seq_LYMPHOBLASTOID_Human0.98108013
87EWS_26573619_Chip-Seq_HEK293_Human0.97598682
88MEIS1_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse0.97015049
89MYCN_21190229_ChIP-Seq_SHEP-21N_Human0.96893147
90SOX2_21211035_ChIP-Seq_LN229_Gbm0.96631856
91SMAD2/3_21741376_ChIP-Seq_EPCs_Human0.94593386
92RNF2_27304074_Chip-Seq_NSC_Mouse0.93731770
93LYL1_20887958_ChIP-Seq_HPC-7_Mouse0.93698541
94P300_18555785_Chip-Seq_ESCs_Mouse0.92999272
95OCT1_27270436_Chip-Seq_PROSTATE_Human0.91428245
96FOXA1_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human0.91422070
97HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human0.91278226
98TCF12/HEB_22897851_ChIP-Seq_JUKARTE6-1_Human0.91092963
99RUNX2_22187159_ChIP-Seq_PCA_Human0.90813736
100LMO2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.90766481

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0009278_abnormal_bone_marrow6.33659318
2MP0002876_abnormal_thyroid_physiology5.93176557
3MP0009780_abnormal_chondrocyte_physiolo5.56936027
4MP0001968_abnormal_touch/_nociception4.41482411
5MP0003880_abnormal_central_pattern4.38953260
6MP0005503_abnormal_tendon_morphology3.85884407
7MP0005360_urolithiasis3.76830163
8MP0003941_abnormal_skin_development3.18372639
9MP0000678_abnormal_parathyroid_gland2.84645812
10MP0009764_decreased_sensitivity_to2.75869015
11MP0008057_abnormal_DNA_replication2.73322293
12MP0005551_abnormal_eye_electrophysiolog2.45252838
13MP0006035_abnormal_mitochondrial_morpho2.42457822
14MP0001501_abnormal_sleep_pattern2.23449855
15MP0005646_abnormal_pituitary_gland2.23349718
16MP0003183_abnormal_peptide_metabolism2.21412474
17MP0000681_abnormal_thyroid_gland2.19872993
18MP0001545_abnormal_hematopoietic_system2.19439851
19MP0005397_hematopoietic_system_phenotyp2.19439851
20MP0003045_fibrosis1.92235558
21MP0009333_abnormal_splenocyte_physiolog1.91669420
22MP0003950_abnormal_plasma_membrane1.88207708
23MP0001664_abnormal_digestion1.83192877
24MP0003195_calcinosis1.76100808
25MP0004147_increased_porphyrin_level1.75150762
26MP0002733_abnormal_thermal_nociception1.74944107
27MP0003567_abnormal_fetal_cardiomyocyte1.72104418
28MP0005645_abnormal_hypothalamus_physiol1.55076642
29MP0003633_abnormal_nervous_system1.53289056
30MP0003638_abnormal_response/metabolism_1.49956229
31MP0009046_muscle_twitch1.43422837
32MP0003191_abnormal_cellular_cholesterol1.42405832
33MP0004782_abnormal_surfactant_physiolog1.41782120
34MP0003646_muscle_fatigue1.37303648
35MP0002249_abnormal_larynx_morphology1.36320313
36MP0009745_abnormal_behavioral_response1.32418179
37MP0003879_abnormal_hair_cell1.32367593
38MP0002272_abnormal_nervous_system1.26846153
39MP0003959_abnormal_lean_body1.14761615
40MP0001970_abnormal_pain_threshold1.10639628
41MP0009765_abnormal_xenobiotic_induced1.05004960
42MP0001486_abnormal_startle_reflex1.03100441
43MP0002971_abnormal_brown_adipose1.01864554
44MP0005167_abnormal_blood-brain_barrier1.00114793
45MP0002148_abnormal_hypersensitivity_rea0.98379262
46MP0000230_abnormal_systemic_arterial0.98261528
47MP0002796_impaired_skin_barrier0.98162574
48MP0008775_abnormal_heart_ventricle0.97035928
49MP0001881_abnormal_mammary_gland0.95742528
50MP0008872_abnormal_physiological_respon0.94075445
51MP0000749_muscle_degeneration0.91926722
52MP0006276_abnormal_autonomic_nervous0.86776892
53MP0003631_nervous_system_phenotype0.85057152
54MP0001919_abnormal_reproductive_system0.84334891
55MP0000015_abnormal_ear_pigmentation0.81694141
56MP0005195_abnormal_posterior_eye0.79420727
57MP0003937_abnormal_limbs/digits/tail_de0.78015325
58MP0004858_abnormal_nervous_system0.76034009
59MP0010234_abnormal_vibrissa_follicle0.73622903
60MP0005083_abnormal_biliary_tract0.72488229
61MP0000358_abnormal_cell_content/0.71557779
62MP0010771_integument_phenotype0.71372416
63MP0002168_other_aberrant_phenotype0.71356767
64MP0005334_abnormal_fat_pad0.71333226
65MP0005670_abnormal_white_adipose0.70518750
66MP0001485_abnormal_pinna_reflex0.67730894
67MP0002693_abnormal_pancreas_physiology0.66405678
68MP0003868_abnormal_feces_composition0.65687752
69MP0003136_yellow_coat_color0.63884067
70MP0002229_neurodegeneration0.63425096
71MP0002108_abnormal_muscle_morphology0.62329046
72MP0002736_abnormal_nociception_after0.62258903
73MP0000049_abnormal_middle_ear0.62139631
74MP0005389_reproductive_system_phenotype0.62040587
75MP0004130_abnormal_muscle_cell0.61316571
76MP0003936_abnormal_reproductive_system0.59221327
77MP0009672_abnormal_birth_weight0.59125059
78MP0006072_abnormal_retinal_apoptosis0.58069186
79MP0004085_abnormal_heartbeat0.57974413
80MP0004043_abnormal_pH_regulation0.56701926
81MP0001324_abnormal_eye_pigmentation0.56513958
82MP0005310_abnormal_salivary_gland0.55809361
83MP0005501_abnormal_skin_physiology0.52752809
84MP0001270_distended_abdomen0.52157570
85MP0001986_abnormal_taste_sensitivity0.51159497
86MP0008874_decreased_physiological_sensi0.50777112
87MP0002557_abnormal_social/conspecific_i0.50574759
88MP0001929_abnormal_gametogenesis0.50365812
89MP0001963_abnormal_hearing_physiology0.50332306
90MP0005085_abnormal_gallbladder_physiolo0.49907417
91MP0005452_abnormal_adipose_tissue0.49516221
92MP0002067_abnormal_sensory_capabilities0.49345721
93MP0009384_cardiac_valve_regurgitation0.49192259
94MP0008875_abnormal_xenobiotic_pharmacok0.48527039
95MP0002069_abnormal_eating/drinking_beha0.48316001
96MP0002572_abnormal_emotion/affect_behav0.46481013
97MP0000778_abnormal_nervous_system0.46335926
98MP0002064_seizures0.45056617
99MP0003718_maternal_effect0.44795823
100MP0003635_abnormal_synaptic_transmissio0.44741375

Predicted human phenotypes

RankGene SetZ-score
1Volvulus (HP:0002580)7.48326465
2Intestinal atresia (HP:0011100)6.95920567
3Pancreatic islet-cell hyperplasia (HP:0004510)6.38737092
4Abnormality of the aortic arch (HP:0012303)5.76608229
5Large for gestational age (HP:0001520)5.76006864
6Broad alveolar ridges (HP:0000187)5.48821926
7Thickened helices (HP:0000391)4.96257105
8Poor head control (HP:0002421)4.61277096
9Oligodontia (HP:0000677)4.57815198
10Mesangial abnormality (HP:0001966)4.36596265
11Gaze-evoked nystagmus (HP:0000640)4.34867381
12Focal motor seizures (HP:0011153)4.05079745
13Abnormality of the ileum (HP:0001549)4.04104786
14Abnormality of the pancreatic islet cells (HP:0006476)4.00620326
15Abnormality of endocrine pancreas physiology (HP:0012093)4.00620326
16Agitation (HP:0000713)3.93134462
17Congenital ichthyosiform erythroderma (HP:0007431)3.89912948
18Chromosomal breakage induced by crosslinking agents (HP:0003221)3.72576756
19Gastrointestinal atresia (HP:0002589)3.64118718
20Hypoproteinemia (HP:0003075)3.50782985
21Chromsome breakage (HP:0040012)3.26349766
22Tubular atrophy (HP:0000092)3.11723108
23Tented upper lip vermilion (HP:0010804)3.06697979
24Cerebellar dysplasia (HP:0007033)2.99005087
25Large eyes (HP:0001090)2.92095550
26Progressive inability to walk (HP:0002505)2.89591907
27Nephroblastoma (Wilms tumor) (HP:0002667)2.84929706
28Type II lissencephaly (HP:0007260)2.82648622
29Abnormality of the alveolar ridges (HP:0006477)2.75368043
30Myositis (HP:0100614)2.73307081
31Broad-based gait (HP:0002136)2.71822868
32Optic nerve hypoplasia (HP:0000609)2.71065855
33Embryonal renal neoplasm (HP:0011794)2.70674916
34Pili torti (HP:0003777)2.65275270
35Poor speech (HP:0002465)2.62839264
36Abnormality of macular pigmentation (HP:0008002)2.56993588
37Orchitis (HP:0100796)2.54029823
38Hyperpituitarism (HP:0010514)2.53346324
39Neonatal respiratory distress (HP:0002643)2.48141062
403-Methylglutaconic aciduria (HP:0003535)2.46441840
41Long nose (HP:0003189)2.41247410
42Aplasia/Hypoplasia of the optic nerve (HP:0008058)2.36786634
43Abnormal hair laboratory examination (HP:0003328)2.32113305
44Pigmentary retinal degeneration (HP:0001146)2.27220460
45Entropion (HP:0000621)2.26610018
46Impulsivity (HP:0100710)2.26480955
47Ectropion (HP:0000656)2.25095992
48High anterior hairline (HP:0009890)2.20198617
49Abnormality of the pons (HP:0007361)2.19460585
50Hyperthyroidism (HP:0000836)2.18616529
51Dysdiadochokinesis (HP:0002075)2.18446810
52Central scotoma (HP:0000603)2.18166337
53Lissencephaly (HP:0001339)2.16774848
54Hypoplasia of the pons (HP:0012110)2.16026553
55Dialeptic seizures (HP:0011146)2.13858353
56Restlessness (HP:0000711)2.12557476
57Elevated erythrocyte sedimentation rate (HP:0003565)2.11875952
58Goiter (HP:0000853)2.11754852
59Autoimmune hemolytic anemia (HP:0001890)2.09079865
60Congenital stationary night blindness (HP:0007642)2.07929521
61Amelogenesis imperfecta (HP:0000705)2.06630253
62Focal seizures (HP:0007359)2.04901871
63Pendular nystagmus (HP:0012043)2.03460312
64Attenuation of retinal blood vessels (HP:0007843)2.02132434
65Hypoplasia of the brainstem (HP:0002365)2.00658204
66Aplasia/Hypoplasia of the brainstem (HP:0007362)2.00658204
67Thyroid-stimulating hormone excess (HP:0002925)13.3755768
68Duplicated collecting system (HP:0000081)1.99433622
69Increased corneal curvature (HP:0100692)1.97133866
70Keratoconus (HP:0000563)1.97133866
71Nonprogressive disorder (HP:0003680)1.95528495
72Generalized tonic-clonic seizures (HP:0002069)1.94860402
73Hypohidrosis (HP:0000966)1.92574632
74Ileus (HP:0002595)1.91896791
75Scotoma (HP:0000575)1.87500996
76Decreased electroretinogram (ERG) amplitude (HP:0000654)1.87184231
77Abnormality of the vitreous humor (HP:0004327)1.84512374
78Inability to walk (HP:0002540)1.82422621
79Abnormality of the renal collecting system (HP:0004742)1.82249403
80Severe visual impairment (HP:0001141)1.82197163
81Muscular dystrophy (HP:0003560)1.80767089
82Poikiloderma (HP:0001029)1.78617052
83Facial diplegia (HP:0001349)1.76504202
84Striae distensae (HP:0001065)1.75374919
85Abolished electroretinogram (ERG) (HP:0000550)1.72874363
86Aplasia/Hypoplasia of the uvula (HP:0010293)1.71194609
87Pancreatic cysts (HP:0001737)1.68702201
88Episodic fever (HP:0001954)1.68453488
89Cutaneous melanoma (HP:0012056)1.65367761
90Aplasia/Hypoplasia affecting the fundus (HP:0008057)1.64584639
91Abnormality of proline metabolism (HP:0010907)1.62960961
92Hydroxyprolinuria (HP:0003080)1.62960961
93Lack of skin elasticity (HP:0100679)1.62702329
94Ketoacidosis (HP:0001993)1.61688146
95Hyperglycinuria (HP:0003108)1.60711469
96Abnormality of the columella (HP:0009929)1.57849274
97Pancreatic fibrosis (HP:0100732)1.56180305
98Non-midline cleft lip (HP:0100335)1.55824701
99Meckel diverticulum (HP:0002245)1.54705773
100Severe muscular hypotonia (HP:0006829)1.52794620

Predicted kinase interactions (KEA)

RankGene SetZ-score
1FRK5.38173416
2ERN13.94735490
3PINK13.68612561
4PDK23.07122869
5IRAK32.65240650
6PNCK2.61067655
7ADRBK12.58970686
8TIE12.10680452
9ADRBK210.3895124
10BMPR1B1.85063017
11PRKCG1.82919194
12DYRK31.80742256
13TGFBR11.77967810
14GRK11.75331105
15PRKCE1.66612846
16ACVR1B1.62323616
17ZAK1.56050853
18CLK11.35325052
19TYRO31.34712236
20EIF2AK31.26765251
21PLK21.21872012
22IRAK11.20524403
23TRIM281.03894960
24NEK91.02274502
25MAPK111.01249215
26MAPKAPK50.98161948
27MKNK10.96470627
28RIPK10.91455253
29CAMK1G0.89867481
30TXK0.84806980
31WNK30.81553815
32PRKCI0.80109149
33WNK40.79410729
34CAMK2A0.78278680
35OXSR10.76278243
36MKNK20.73655418
37BCKDK0.73107441
38EPHA40.66364897
39STK390.64828992
40GRK70.64561234
41ERBB20.57741823
42NTRK20.56296885
43NEK10.56046230
44TNIK0.54698763
45TEC0.54144476
46TAOK30.51594549
47NUAK10.50481874
48STK380.47435781
49CAMK10.47418638
50NEK20.47325424
51PRKCB0.44321610
52STK30.43896489
53PRKCA0.40590988
54FLT30.40319362
55CSNK1E0.35724689
56SGK10.35401081
57DYRK1A0.35380519
58PTK2B0.34289043
59GRK50.32368323
60STK160.32051086
61MST40.31892799
62NEK60.31539066
63TGFBR20.31437211
64STK38L0.31288968
65CSNK2A20.31085939
66FGFR20.30521635
67CAMK40.29470129
68MAPK10.29241671
69CSNK1A10.29183140
70ATR0.27169974
71BRSK10.26503433
72CSNK1A1L0.25714749
73RPS6KA30.25025239
74AKT10.24974359
75EIF2AK20.24432893
76PRKACG0.24220774
77ATM0.23956492
78PRKACA0.23770946
79INSRR0.23162007
80ABL10.22525501
81WEE10.22309855
82BUB10.22251596
83MAP4K20.22249970
84VRK10.21879994
85PDK10.21643816
86STK100.20338929
87MAPK130.19378410
88MAPK30.19029509
89FGFR10.17725783
90CSF1R0.16792881
91PLK30.16375725
92ERBB40.15815718
93CSNK2A10.15360592
94MELK0.15210110
95MATK0.14783879
96OBSCN0.14478334
97CSNK1G10.14308959
98TSSK60.12348449
99GSK3B0.11978242
100CSNK1G30.11427540

Predicted pathways (KEGG)

RankGene SetZ-score
1Dorso-ventral axis formation_Homo sapiens_hsa043203.47298516
2Olfactory transduction_Homo sapiens_hsa047403.29020725
3Cyanoamino acid metabolism_Homo sapiens_hsa004603.09447283
4Phototransduction_Homo sapiens_hsa047443.07080790
5Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001302.92104978
6Steroid hormone biosynthesis_Homo sapiens_hsa001402.84572325
7Taurine and hypotaurine metabolism_Homo sapiens_hsa004302.69633034
8Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005632.48272120
9Neuroactive ligand-receptor interaction_Homo sapiens_hsa040802.45790550
10ABC transporters_Homo sapiens_hsa020102.42146398
11Fanconi anemia pathway_Homo sapiens_hsa034602.35179751
12Morphine addiction_Homo sapiens_hsa050322.30034984
13Sphingolipid metabolism_Homo sapiens_hsa006002.15045068
14Synthesis and degradation of ketone bodies_Homo sapiens_hsa000721.91923128
15Sulfur relay system_Homo sapiens_hsa041221.80569553
16Butanoate metabolism_Homo sapiens_hsa006501.77337641
17Linoleic acid metabolism_Homo sapiens_hsa005911.76980982
18Basal transcription factors_Homo sapiens_hsa030221.71446265
19Glycerolipid metabolism_Homo sapiens_hsa005611.63859182
20Pentose phosphate pathway_Homo sapiens_hsa000301.51646230
21Taste transduction_Homo sapiens_hsa047421.50968171
22Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008601.50265796
23Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006031.47813356
24Valine, leucine and isoleucine degradation_Homo sapiens_hsa002801.47522295
25Ovarian steroidogenesis_Homo sapiens_hsa049131.42579492
26Arachidonic acid metabolism_Homo sapiens_hsa005901.40916185
27alpha-Linolenic acid metabolism_Homo sapiens_hsa005921.39483305
28Tryptophan metabolism_Homo sapiens_hsa003801.35936477
29Glycosaminoglycan degradation_Homo sapiens_hsa005311.35032777
30Nitrogen metabolism_Homo sapiens_hsa009101.31201103
31Propanoate metabolism_Homo sapiens_hsa006401.27793714
32Homologous recombination_Homo sapiens_hsa034401.26174423
33Starch and sucrose metabolism_Homo sapiens_hsa005001.22559211
34Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006041.22071621
35Primary bile acid biosynthesis_Homo sapiens_hsa001201.21064323
36Protein export_Homo sapiens_hsa030601.17612118
37Retinol metabolism_Homo sapiens_hsa008301.15934893
38Drug metabolism - cytochrome P450_Homo sapiens_hsa009821.14297581
39Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005201.13902476
40Complement and coagulation cascades_Homo sapiens_hsa046101.13181483
41One carbon pool by folate_Homo sapiens_hsa006701.06427386
42Caffeine metabolism_Homo sapiens_hsa002321.06368849
43Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005121.03485639
44Terpenoid backbone biosynthesis_Homo sapiens_hsa009001.02930707
45Renin-angiotensin system_Homo sapiens_hsa046140.99564909
46RNA degradation_Homo sapiens_hsa030180.92160922
47Cysteine and methionine metabolism_Homo sapiens_hsa002700.91272425
48Proteasome_Homo sapiens_hsa030500.90417959
49Fatty acid degradation_Homo sapiens_hsa000710.89497827
50Ether lipid metabolism_Homo sapiens_hsa005650.89371165
51Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006010.87179168
52Mineral absorption_Homo sapiens_hsa049780.85956134
53Chemical carcinogenesis_Homo sapiens_hsa052040.83875985
54Peroxisome_Homo sapiens_hsa041460.80311567
55Histidine metabolism_Homo sapiens_hsa003400.77064737
56Salivary secretion_Homo sapiens_hsa049700.76856793
57Metabolic pathways_Homo sapiens_hsa011000.75614254
58Glycine, serine and threonine metabolism_Homo sapiens_hsa002600.75545580
59Calcium signaling pathway_Homo sapiens_hsa040200.73547359
60Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009800.72903041
61Estrogen signaling pathway_Homo sapiens_hsa049150.69362120
62Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030080.65261487
63Parkinsons disease_Homo sapiens_hsa050120.64568201
64Ascorbate and aldarate metabolism_Homo sapiens_hsa000530.64533071
65Purine metabolism_Homo sapiens_hsa002300.63743791
66Asthma_Homo sapiens_hsa053100.55708851
67Inflammatory bowel disease (IBD)_Homo sapiens_hsa053210.55621654
68Arginine biosynthesis_Homo sapiens_hsa002200.55621380
69Oxidative phosphorylation_Homo sapiens_hsa001900.55391104
70Hedgehog signaling pathway_Homo sapiens_hsa043400.51845285
71Glutathione metabolism_Homo sapiens_hsa004800.51284279
72mRNA surveillance pathway_Homo sapiens_hsa030150.51075058
73Legionellosis_Homo sapiens_hsa051340.51063216
74Cardiac muscle contraction_Homo sapiens_hsa042600.50873827
75Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006300.50641674
76Nicotine addiction_Homo sapiens_hsa050330.50202912
77RNA polymerase_Homo sapiens_hsa030200.49344264
78Cytokine-cytokine receptor interaction_Homo sapiens_hsa040600.48974250
79Glycerophospholipid metabolism_Homo sapiens_hsa005640.47951634
80Selenocompound metabolism_Homo sapiens_hsa004500.47753168
81Alzheimers disease_Homo sapiens_hsa050100.46546137
82Vascular smooth muscle contraction_Homo sapiens_hsa042700.46233051
83Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.45312257
84Carbohydrate digestion and absorption_Homo sapiens_hsa049730.44223301
85Huntingtons disease_Homo sapiens_hsa050160.43408900
86Glutamatergic synapse_Homo sapiens_hsa047240.40224584
87Pancreatic secretion_Homo sapiens_hsa049720.39499610
88Pentose and glucuronate interconversions_Homo sapiens_hsa000400.39435931
89Intestinal immune network for IgA production_Homo sapiens_hsa046720.39233020
90Circadian entrainment_Homo sapiens_hsa047130.38905390
91beta-Alanine metabolism_Homo sapiens_hsa004100.38833068
92Base excision repair_Homo sapiens_hsa034100.36599866
93Primary immunodeficiency_Homo sapiens_hsa053400.36393594
94Serotonergic synapse_Homo sapiens_hsa047260.35757108
95Non-homologous end-joining_Homo sapiens_hsa034500.35411876
96Maturity onset diabetes of the young_Homo sapiens_hsa049500.34465896
97Basal cell carcinoma_Homo sapiens_hsa052170.32845393
98RNA transport_Homo sapiens_hsa030130.30989419
99Sphingolipid signaling pathway_Homo sapiens_hsa040710.29511629
100Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.27822543

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