TBCAP1

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
1ovulation cycle (GO:0042698)7.75229622
2ribosomal small subunit biogenesis (GO:0042274)7.06164535
3viral transcription (GO:0019083)7.06101345
4translational termination (GO:0006415)6.88967273
5ribosomal small subunit assembly (GO:0000028)6.68791650
6tyrosine phosphorylation of STAT protein (GO:0007260)6.27606307
7regulation of female gonad development (GO:2000194)5.94859178
8SRP-dependent cotranslational protein targeting to membrane (GO:0006614)5.64107833
9translational elongation (GO:0006414)5.58316158
10cotranslational protein targeting to membrane (GO:0006613)5.56638866
11protein targeting to ER (GO:0045047)5.54270076
12regulation of bile acid biosynthetic process (GO:0070857)5.42990534
13positive regulation of neurological system process (GO:0031646)5.41849087
14establishment of protein localization to endoplasmic reticulum (GO:0072599)5.30946430
15cellular protein complex disassembly (GO:0043624)5.29149487
16protein localization to endoplasmic reticulum (GO:0070972)5.15906126
17viral life cycle (GO:0019058)5.07249817
18response to pheromone (GO:0019236)5.06251637
19negative regulation of protein tyrosine kinase activity (GO:0061099)5.05339969
20maturation of SSU-rRNA (GO:0030490)4.99552576
21nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)4.99206364
22regulation of transmission of nerve impulse (GO:0051969)4.88403642
23energy coupled proton transport, down electrochemical gradient (GO:0015985)4.87946988
24ATP synthesis coupled proton transport (GO:0015986)4.87946988
25mitochondrial ATP synthesis coupled proton transport (GO:0042776)4.61121565
26establishment of protein localization to mitochondrial membrane (GO:0090151)4.60208768
27protein complex disassembly (GO:0043241)4.51795772
28translational initiation (GO:0006413)4.40589125
29behavioral response to nicotine (GO:0035095)4.38021014
30macromolecular complex disassembly (GO:0032984)4.28952079
31cell proliferation in forebrain (GO:0021846)4.26374955
32negative regulation of glycogen biosynthetic process (GO:0045719)4.16566442
33motile cilium assembly (GO:0044458)4.12409157
34phenylpropanoid metabolic process (GO:0009698)4.11000880
35chaperone-mediated protein transport (GO:0072321)4.10259119
36regulation of single stranded viral RNA replication via double stranded DNA intermediate (GO:00450913.93038570
37tolerance induction (GO:0002507)3.80558983
38protein targeting to membrane (GO:0006612)3.66398381
39regulation of isotype switching to IgG isotypes (GO:0048302)3.66139865
40inner ear receptor cell development (GO:0060119)3.63620433
41DNA deamination (GO:0045006)3.62392591
42translation (GO:0006412)3.51670781
43nuclear-transcribed mRNA catabolic process (GO:0000956)3.50237675
44regulation of regulatory T cell differentiation (GO:0045589)3.43744410
45negative regulation of keratinocyte proliferation (GO:0010839)3.42254351
46endoderm formation (GO:0001706)3.36877416
47mitochondrial electron transport, NADH to ubiquinone (GO:0006120)3.36162531
48cellular response to interferon-beta (GO:0035458)3.33310451
49mRNA catabolic process (GO:0006402)3.29646344
50postsynaptic membrane organization (GO:0001941)3.25129489
51pyrimidine nucleobase catabolic process (GO:0006208)3.24907225
52tRNA splicing, via endonucleolytic cleavage and ligation (GO:0006388)3.19445020
53RNA splicing, via endonucleolytic cleavage and ligation (GO:0000394)3.19445020
54detection of temperature stimulus involved in sensory perception of pain (GO:0050965)3.14226403
55detection of temperature stimulus involved in sensory perception (GO:0050961)3.14226403
56positive regulation of cardiac muscle cell differentiation (GO:2000727)3.11986411
57regulation of G0 to G1 transition (GO:0070316)3.11949870
58negative regulation of glycogen metabolic process (GO:0070874)3.08442992
59ATP biosynthetic process (GO:0006754)3.07184888
60spinal cord development (GO:0021510)3.05904769
61protein-cofactor linkage (GO:0018065)3.04378672
62electron transport chain (GO:0022900)3.03909898
63respiratory electron transport chain (GO:0022904)2.99639352
64retinal ganglion cell axon guidance (GO:0031290)2.98454891
65regulation of neuron migration (GO:2001222)2.96772089
66dendritic spine morphogenesis (GO:0060997)2.96138327
67RNA catabolic process (GO:0006401)2.90423693
68synaptic transmission, cholinergic (GO:0007271)2.89922101
69forebrain neuron differentiation (GO:0021879)2.87177729
70positive regulation of dendritic spine morphogenesis (GO:0061003)2.86735976
71regulation of odontogenesis of dentin-containing tooth (GO:0042487)2.85964858
72regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor act2.85693126
73lung secretory cell differentiation (GO:0061140)2.85201189
74termination of RNA polymerase III transcription (GO:0006386)2.84422889
75transcription elongation from RNA polymerase III promoter (GO:0006385)2.84422889
76neuron fate determination (GO:0048664)2.84284504
77protein K6-linked ubiquitination (GO:0085020)2.83387658
78negative regulation of calcium ion transport into cytosol (GO:0010523)2.81645893
79startle response (GO:0001964)2.81509680
80protein neddylation (GO:0045116)2.81266389
81cellular biogenic amine catabolic process (GO:0042402)2.80552141
82amine catabolic process (GO:0009310)2.80552141
83regulation of interleukin-2 biosynthetic process (GO:0045076)2.70640832
84negative regulation of neurological system process (GO:0031645)2.67855594
85purine ribonucleoside triphosphate biosynthetic process (GO:0009206)2.65607635
86somite development (GO:0061053)2.61905703
87mitochondrial respiratory chain complex I biogenesis (GO:0097031)2.60959212
88mitochondrial respiratory chain complex I assembly (GO:0032981)2.60959212
89NADH dehydrogenase complex assembly (GO:0010257)2.60959212
90nucleobase catabolic process (GO:0046113)2.60119779
91purine nucleoside triphosphate biosynthetic process (GO:0009145)2.58824681
92intracellular protein transmembrane import (GO:0044743)2.58822635
93signal peptide processing (GO:0006465)2.57870916
94cell fate commitment involved in formation of primary germ layer (GO:0060795)2.53141463
95ribonucleoprotein complex biogenesis (GO:0022613)2.52258182
96protein complex biogenesis (GO:0070271)2.51865641
97tongue development (GO:0043586)2.49509788
98positive regulation of defense response to virus by host (GO:0002230)2.47736059
99negative regulation of interleukin-10 production (GO:0032693)2.47509467
100flavonoid metabolic process (GO:0009812)2.47145091

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1EZH2_22144423_ChIP-Seq_EOC_Human6.23855182
2RBPJ_22232070_ChIP-Seq_NCS_Mouse4.91211986
3SOX9_22984422_ChIP-ChIP_TESTIS_Rat4.87809665
4E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse4.11571576
5BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse3.77121468
6VDR_22108803_ChIP-Seq_LS180_Human3.46549953
7GLI1_17442700_ChIP-ChIP_MESCs_Mouse3.38697391
8FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse3.35297802
9HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse2.65670747
10TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse2.59359886
11BMI1_23680149_ChIP-Seq_NPCS_Mouse2.33056837
12EZH2_27304074_Chip-Seq_ESCs_Mouse2.21479353
13JARID2_20064375_ChIP-Seq_MESCs_Mouse2.17400015
14TP63_19390658_ChIP-ChIP_HaCaT_Human2.16751451
15GABP_17652178_ChIP-ChIP_JURKAT_Human2.00243834
16HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human1.96021923
17MYC_18940864_ChIP-ChIP_HL60_Human1.89435837
18CBX2_27304074_Chip-Seq_ESCs_Mouse1.85824718
19ZNF274_21170338_ChIP-Seq_K562_Hela1.80358515
20NR4A2_19515692_ChIP-ChIP_MN9D_Mouse1.80018440
21RNF2_27304074_Chip-Seq_NSC_Mouse1.72852183
22EED_16625203_ChIP-ChIP_MESCs_Mouse1.67943535
23MYC_18555785_ChIP-Seq_MESCs_Mouse1.66653758
24REST_21632747_ChIP-Seq_MESCs_Mouse1.65590326
25EST1_17652178_ChIP-ChIP_JURKAT_Human1.59351515
26EZH2_27294783_Chip-Seq_ESCs_Mouse1.58276742
27RNF2_18974828_ChIP-Seq_MESCs_Mouse1.56219485
28EZH2_18974828_ChIP-Seq_MESCs_Mouse1.56219485
29ZFP57_27257070_Chip-Seq_ESCs_Mouse1.54339345
30SUZ12_18692474_ChIP-Seq_MEFs_Mouse1.52364316
31SUZ12_18692474_ChIP-Seq_MESCs_Mouse1.49169643
32PHC1_16625203_ChIP-ChIP_MESCs_Mouse1.48961488
33FLI1_27457419_Chip-Seq_LIVER_Mouse1.45930996
34ETS1_20019798_ChIP-Seq_JURKAT_Human1.45837167
35EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human1.44582783
36RNF2_27304074_Chip-Seq_ESCs_Mouse1.44394414
37JARID2_20075857_ChIP-Seq_MESCs_Mouse1.42782500
38SUZ12_18555785_ChIP-Seq_MESCs_Mouse1.41516778
39SUZ12_16625203_ChIP-ChIP_MESCs_Mouse1.40658292
40FUS_26573619_Chip-Seq_HEK293_Human1.38905226
41MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human1.37236515
42IKZF1_21737484_ChIP-ChIP_HCT116_Human1.34699116
43SUZ12_27294783_Chip-Seq_ESCs_Mouse1.33357962
44RNF2_16625203_ChIP-ChIP_MESCs_Mouse1.33156528
45GATA1_26923725_Chip-Seq_HPCs_Mouse1.32380283
46MYCN_21190229_ChIP-Seq_SHEP-21N_Human1.32377397
47KLF5_18264089_ChIP-ChIP_MESCs_Mouse1.29544466
48KLF4_18264089_ChIP-ChIP_MESCs_Mouse1.29544466
49KLF2_18264089_ChIP-ChIP_MESCs_Mouse1.29544466
50EWS_26573619_Chip-Seq_HEK293_Human1.28407935
51CTBP1_25329375_ChIP-Seq_LNCAP_Human1.24177558
52GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse1.24078933
53TTF2_22483619_ChIP-Seq_HELA_Human1.22909269
54STAT3_22323479_ChIP-Seq_MACROPHAGE_Mouse1.20969880
55IRF1_19129219_ChIP-ChIP_H3396_Human1.16913727
56SIN3B_21632747_ChIP-Seq_MESCs_Mouse1.15492961
57GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.11406460
58CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons1.11084211
59RCOR2_21632747_ChIP-Seq_MESCs_Mouse1.10722787
60CTNNB1_24651522_ChIP-Seq_LGR5+_INTESTINAL_STEM_Human1.10129323
61TP53_22573176_ChIP-Seq_HFKS_Human1.08301428
62TAF15_26573619_Chip-Seq_HEK293_Human1.07744315
63P300_19829295_ChIP-Seq_ESCs_Human1.07407011
64TP53_20018659_ChIP-ChIP_R1E_Mouse1.07087694
65TDRD3_21172665_ChIP-Seq_MCF-7_Human1.04790590
66REST_18959480_ChIP-ChIP_MESCs_Mouse1.04650641
67GATA3_21878914_ChIP-Seq_MCF-7_Human1.04382514
68RING1B_27294783_Chip-Seq_ESCs_Mouse1.03768700
69SUZ12_18974828_ChIP-Seq_MESCs_Mouse1.01616981
70POU5F1_16153702_ChIP-ChIP_HESCs_Human0.99368512
71CTCF_27219007_Chip-Seq_Bcells_Human0.97716442
72SOX2_19829295_ChIP-Seq_ESCs_Human0.96827868
73NANOG_19829295_ChIP-Seq_ESCs_Human0.96827868
74POU5F1_18358816_ChIP-ChIP_MESCs_Mouse0.95399237
75JARID1A_20064375_ChIP-Seq_MESCs_Mouse0.94628735
76PCGF2_27294783_Chip-Seq_ESCs_Mouse0.94145327
77SUZ12_20075857_ChIP-Seq_MESCs_Mouse0.94118990
78MYC_19829295_ChIP-Seq_ESCs_Human0.92344149
79MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse0.91420024
80MYBL2_22936984_ChIP-ChIP_MESCs_Mouse0.88938151
81GBX2_23144817_ChIP-Seq_PC3_Human0.88541657
82KLF4_19030024_ChIP-ChIP_MESCs_Mouse0.86147852
83ETV2_25802403_ChIP-Seq_MESCs_Mouse0.85304351
84KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human0.84699349
85REST_19997604_ChIP-ChIP_NEURONS_Mouse0.84675785
86VDR_23849224_ChIP-Seq_CD4+_Human0.83988721
87FOXP2_21765815_ChIP-ChIP_NEURO2A_Mouse0.83909407
88NOTCH1_21737748_ChIP-Seq_TLL_Human0.83485807
89PCGF2_27294783_Chip-Seq_NPCs_Mouse0.83190496
90MYC_19079543_ChIP-ChIP_MESCs_Mouse0.82726503
91NCOR_22424771_ChIP-Seq_293T_Human0.82243285
92RCOR3_21632747_ChIP-Seq_MESCs_Mouse0.82150074
93CEBPB_24764292_ChIP-Seq_MC3T3_Mouse0.81992765
94PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human0.81957636
95SMAD3_21741376_ChIP-Seq_ESCs_Human0.81569549
96CEBPA_26348894_ChIP-Seq_LIVER_Mouse0.80900517
97E2F1_17053090_ChIP-ChIP_MCF-7_Human0.79842407
98IGF1R_20145208_ChIP-Seq_DFB_Human0.79230219
99CTBP2_25329375_ChIP-Seq_LNCAP_Human0.78948527
100ERG_21242973_ChIP-ChIP_JURKAT_Human0.78876814

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0003315_abnormal_perineum_morphology5.42650514
2MP0006292_abnormal_olfactory_placode5.21585375
3MP0005646_abnormal_pituitary_gland4.91782749
4MP0009379_abnormal_foot_pigmentation4.09716942
5MP0002138_abnormal_hepatobiliary_system3.61850764
6MP0005187_abnormal_penis_morphology3.08452959
7MP0004142_abnormal_muscle_tone2.71787178
8MP0005377_hearing/vestibular/ear_phenot2.51164692
9MP0003878_abnormal_ear_physiology2.51164692
10MP0003122_maternal_imprinting2.47425808
11MP0003123_paternal_imprinting2.26560550
12MP0003787_abnormal_imprinting2.15317741
13MP0003567_abnormal_fetal_cardiomyocyte2.10006673
14MP0008789_abnormal_olfactory_epithelium2.09963279
15MP0001873_stomach_inflammation2.08611902
16MP0002277_abnormal_respiratory_mucosa1.99265678
17MP0000613_abnormal_salivary_gland1.99135325
18MP0003879_abnormal_hair_cell1.91749428
19MP0002876_abnormal_thyroid_physiology1.88513071
20MP0003121_genomic_imprinting1.80552131
21MP0004885_abnormal_endolymph1.79143963
22MP0003880_abnormal_central_pattern1.74483408
23MP0008877_abnormal_DNA_methylation1.64224127
24MP0005499_abnormal_olfactory_system1.63901016
25MP0005394_taste/olfaction_phenotype1.63901016
26MP0004145_abnormal_muscle_electrophysio1.62395733
27MP0002638_abnormal_pupillary_reflex1.55730014
28MP0004742_abnormal_vestibular_system1.49736804
29MP0001485_abnormal_pinna_reflex1.46146559
30MP0001293_anophthalmia1.44406236
31MP0010030_abnormal_orbit_morphology1.43432407
32MP0004133_heterotaxia1.41354527
33MP0003890_abnormal_embryonic-extraembry1.36866658
34MP0006276_abnormal_autonomic_nervous1.36541156
35MP0002733_abnormal_thermal_nociception1.35794162
36MP0005379_endocrine/exocrine_gland_phen1.30750461
37MP0009053_abnormal_anal_canal1.28152350
38MP0005551_abnormal_eye_electrophysiolog1.24995296
39MP0010368_abnormal_lymphatic_system1.21456207
40MP0009046_muscle_twitch1.20505878
41MP0000049_abnormal_middle_ear1.20372835
42MP0002938_white_spotting1.17202337
43MP0002272_abnormal_nervous_system1.15372212
44MP0003300_gastrointestinal_ulcer1.15216655
45MP0003635_abnormal_synaptic_transmissio1.13323297
46MP0000778_abnormal_nervous_system1.09788906
47MP0000537_abnormal_urethra_morphology1.07821663
48MP0000372_irregular_coat_pigmentation1.07457341
49MP0002928_abnormal_bile_duct1.06938770
50MP0005423_abnormal_somatic_nervous1.04950123
51MP0002163_abnormal_gland_morphology1.03936413
52MP0000026_abnormal_inner_ear1.02275697
53MP0003119_abnormal_digestive_system1.01475884
54MP0001348_abnormal_lacrimal_gland0.99137409
55MP0002184_abnormal_innervation0.98953061
56MP0008057_abnormal_DNA_replication0.98776062
57MP0001968_abnormal_touch/_nociception0.98678935
58MP0000566_synostosis0.95060128
59MP0000631_abnormal_neuroendocrine_gland0.94820947
60MP0001970_abnormal_pain_threshold0.93443370
61MP0003938_abnormal_ear_development0.92616500
62MP0002736_abnormal_nociception_after0.92413221
63MP0002234_abnormal_pharynx_morphology0.92096779
64MP0003136_yellow_coat_color0.91465842
65MP0009745_abnormal_behavioral_response0.91216820
66MP0001486_abnormal_startle_reflex0.90371624
67MP0003942_abnormal_urinary_system0.88510059
68MP0000678_abnormal_parathyroid_gland0.86882550
69MP0002752_abnormal_somatic_nervous0.85864060
70MP0002557_abnormal_social/conspecific_i0.85794530
71MP0001879_abnormal_lymphatic_vessel0.82350547
72MP0003937_abnormal_limbs/digits/tail_de0.81654776
73MP0002063_abnormal_learning/memory/cond0.81614293
74MP0002837_dystrophic_cardiac_calcinosis0.80310926
75MP0005195_abnormal_posterior_eye0.77178344
76MP0004859_abnormal_synaptic_plasticity0.76718668
77MP0001963_abnormal_hearing_physiology0.75669588
78MP0004858_abnormal_nervous_system0.74294388
79MP0002067_abnormal_sensory_capabilities0.73979815
80MP0002064_seizures0.73250272
81MP0000955_abnormal_spinal_cord0.72721187
82MP0006072_abnormal_retinal_apoptosis0.71237291
83MP0002102_abnormal_ear_morphology0.70588563
84MP0001919_abnormal_reproductive_system0.69361667
85MP0002572_abnormal_emotion/affect_behav0.69349967
86MP0002160_abnormal_reproductive_system0.68198140
87MP0002751_abnormal_autonomic_nervous0.67705589
88MP0000383_abnormal_hair_follicle0.67513482
89MP0005389_reproductive_system_phenotype0.63745661
90MP0002210_abnormal_sex_determination0.63674597
91MP0000490_abnormal_crypts_of0.61627225
92MP0009250_abnormal_appendicular_skeleto0.61152239
93MP0003646_muscle_fatigue0.60922022
94MP0003861_abnormal_nervous_system0.60360634
95MP0001529_abnormal_vocalization0.59221579
96MP0002152_abnormal_brain_morphology0.57883481
97MP0004130_abnormal_muscle_cell0.57706844
98MP0000470_abnormal_stomach_morphology0.55920627
99MP0001984_abnormal_olfaction0.55175503
100MP0001188_hyperpigmentation0.54691273

Predicted human phenotypes

RankGene SetZ-score
1Abnormality of cells of the erythroid lineage (HP:0012130)4.75845746
2Reticulocytopenia (HP:0001896)4.70205744
3Abnormal number of erythroid precursors (HP:0012131)4.10054534
4Anosmia (HP:0000458)4.05073653
5Septo-optic dysplasia (HP:0100842)3.40892279
6Stenosis of the external auditory canal (HP:0000402)3.32280012
7Agitation (HP:0000713)3.22492792
8Pancreatic cysts (HP:0001737)3.19394251
9Hypogonadotrophic hypogonadism (HP:0000044)3.11728250
10Abnormality of the labia minora (HP:0012880)3.04384508
11Abnormality of abdominal situs (HP:0011620)2.98988581
12Abdominal situs inversus (HP:0003363)2.98988581
13Macrocytic anemia (HP:0001972)2.93582161
14Abnormality of the phalanges of the 2nd finger (HP:0009541)2.93365698
15Molar tooth sign on MRI (HP:0002419)2.74363576
16Abnormality of midbrain morphology (HP:0002418)2.74363576
17Maternal diabetes (HP:0009800)2.73913266
18Asplenia (HP:0001746)2.71814198
19Aplasia/Hypoplasia of the spleen (HP:0010451)2.67661193
20Abnormality of the renal cortex (HP:0011035)2.67334558
21Enlarged kidneys (HP:0000105)2.64461404
22Congenital stationary night blindness (HP:0007642)2.60419087
23Aplasia/Hypoplasia of the sacrum (HP:0008517)2.60206552
24Acute necrotizing encephalopathy (HP:0006965)2.53410514
25Genetic anticipation (HP:0003743)2.45613043
26Pallor (HP:0000980)2.44590795
27Progressive cerebellar ataxia (HP:0002073)2.41999273
28Abnormality of DNA repair (HP:0003254)2.41175386
29Pendular nystagmus (HP:0012043)2.40010746
30Abnormal mitochondria in muscle tissue (HP:0008316)2.36177408
31Chronic hepatic failure (HP:0100626)2.31440610
32Absent septum pellucidum (HP:0001331)2.30164730
33Abnormality of the renal medulla (HP:0100957)2.27373013
34Adrenal hypoplasia (HP:0000835)2.26134287
35Increased hepatocellular lipid droplets (HP:0006565)2.24495987
36Facial shape deformation (HP:0011334)2.24423940
37Potter facies (HP:0002009)2.24423940
38Abnormality of macular pigmentation (HP:0008002)2.23584814
39Abnormality of the nasal septum (HP:0000419)2.23282149
40Limb dystonia (HP:0002451)2.23065478
41Pancreatic fibrosis (HP:0100732)2.22239101
42Mitochondrial inheritance (HP:0001427)2.22124246
43IgM deficiency (HP:0002850)2.21824965
44Respiratory insufficiency due to defective ciliary clearance (HP:0200073)2.21435242
45Parkinsonism with favorable response to dopaminergic medication (HP:0002548)2.19033034
46Epileptic encephalopathy (HP:0200134)2.18165097
47Urinary bladder sphincter dysfunction (HP:0002839)2.15381987
48Myokymia (HP:0002411)2.13187545
49Microretrognathia (HP:0000308)2.12712368
50Increased CSF lactate (HP:0002490)2.11362478
51Acute encephalopathy (HP:0006846)2.09562087
52Abnormal number of incisors (HP:0011064)2.08252110
53Cystic liver disease (HP:0006706)2.08104492
54Tubulointerstitial fibrosis (HP:0005576)2.06962186
55Patent foramen ovale (HP:0001655)2.06818809
56Sclerocornea (HP:0000647)2.06616748
57Anophthalmia (HP:0000528)2.04270997
58Restlessness (HP:0000711)2.04047406
59Congenital hepatic fibrosis (HP:0002612)1.99766133
60Progressive macrocephaly (HP:0004481)1.98990758
61Morphological abnormality of the middle ear (HP:0008609)1.98855074
62Abnormality of the septum pellucidum (HP:0007375)1.95071843
63Large eyes (HP:0001090)1.94078777
64Oligodactyly (hands) (HP:0001180)1.93613902
65Dynein arm defect of respiratory motile cilia (HP:0012255)1.93530438
66Absent/shortened dynein arms (HP:0200106)1.93530438
67True hermaphroditism (HP:0010459)1.92963916
68Depressed nasal ridge (HP:0000457)1.92629650
69Optic nerve hypoplasia (HP:0000609)1.91023644
70Abnormal respiratory motile cilium morphology (HP:0005938)1.90514352
71Abnormal respiratory epithelium morphology (HP:0012253)1.90514352
72Abnormality of the pubic bones (HP:0003172)1.88291638
73Abnormality of magnesium homeostasis (HP:0004921)1.87836366
74Submucous cleft hard palate (HP:0000176)1.87691770
75Supernumerary bones of the axial skeleton (HP:0009144)1.87643281
76Abnormality of the parietal bone (HP:0002696)1.87634938
77Nephronophthisis (HP:0000090)1.86065449
78Supernumerary spleens (HP:0009799)1.85458696
79Birth length less than 3rd percentile (HP:0003561)1.84304155
80Lipid accumulation in hepatocytes (HP:0006561)1.84272671
81Optic disc pallor (HP:0000543)1.84190902
82Rhinitis (HP:0012384)1.82656045
83Abnormality of the middle phalanx of the 5th finger (HP:0004219)1.81907634
84Impulsivity (HP:0100710)1.81385256
85Hyperglycinemia (HP:0002154)1.81371968
86Abnormal respiratory motile cilium physiology (HP:0012261)1.80275120
87Amblyopia (HP:0000646)1.78500459
88Absent rod-and cone-mediated responses on ERG (HP:0007688)1.77200406
89Decreased activity of cytochrome C oxidase in muscle tissue (HP:0003688)1.76672298
90Hypomagnesemia (HP:0002917)1.76123265
91Aplasia/Hypoplasia of the optic nerve (HP:0008058)1.76091590
92Supernumerary ribs (HP:0005815)1.75626782
93Decreased subcutaneous fat (HP:0001002)1.75389542
94Abnormal ciliary motility (HP:0012262)1.75351337
95Broad distal phalanx of finger (HP:0009836)1.72468303
96Renal Fanconi syndrome (HP:0001994)1.72399406
97Congenital nonbullous ichthyosiform erythroderma (HP:0007479)1.72125931
98Delayed puberty (HP:0000823)1.72068430
99Abnormality of the phalanges of the 5th finger (HP:0004213)1.71397254
100Congenital, generalized hypertrichosis (HP:0004540)1.69110355

Predicted kinase interactions (KEA)

RankGene SetZ-score
1STK165.29225518
2TXK3.88263019
3MAP3K93.71004480
4PTK63.19902085
5TNIK2.77970695
6CASK2.77045155
7DMPK2.71822739
8IRAK12.39470403
9NME22.35985291
10BMPR1B2.32240243
11NUAK12.31151128
12WNK32.23297049
13EPHA42.15872302
14TLK12.12738488
15TYRO32.07209249
16EPHB21.98240933
17DYRK21.91586570
18WNK41.77274787
19ARAF1.67918093
20PINK11.50314896
21TAOK11.48708278
22MAP3K131.43548524
23MAPK131.42743837
24CAMK1D1.42688037
25NTRK21.38406015
26SIK21.38275414
27PAK31.32353220
28TIE11.24459183
29ADRBK21.18344036
30GRK11.09727822
31WNK11.04639126
32PRKCQ1.04000341
33MINK10.96262745
34CSNK1G20.96050889
35PRKD30.94899589
36NEK20.92109823
37PRKCG0.91329130
38ACVR1B0.89049736
39RAF10.86116266
40MARK30.84905293
41PRKCH0.84416911
42CAMK1G0.80319654
43BCKDK0.79825899
44TAOK30.77246611
45IRAK20.76784640
46PHKG20.74916196
47PHKG10.74916196
48TGFBR10.73826779
49PIK3CA0.73373272
50PRKCI0.72444289
51ADRBK10.71622446
52PRKCE0.71584679
53LRRK20.70727023
54CDC70.69690657
55FRK0.69223843
56MARK10.67214688
57KDR0.66316447
58CAMK10.61429566
59PKN10.59311936
60ILK0.58805792
61ZAK0.58288746
62PIM10.58034300
63MATK0.57164199
64IRAK40.56389426
65SRPK10.56270639
66OBSCN0.55777544
67BTK0.54002884
68DYRK30.50362708
69STK110.50067919
70PASK0.49892747
71ITK0.48123928
72MAP2K60.47183329
73CHEK20.46182851
74RPS6KA50.45870358
75PRKACA0.45426714
76INSRR0.43456373
77PRKCZ0.43105663
78TNK20.42492852
79NEK10.42303436
80PRKG10.42145660
81IKBKE0.41244944
82CDK50.40430897
83CSNK2A10.38579935
84CSNK1E0.37719630
85RPS6KA60.37578411
86NTRK10.37512970
87CSNK2A20.36386488
88DYRK1B0.34970709
89MAP2K20.34798860
90MAPK140.34162412
91CDK150.33853008
92CDK20.33799191
93PLK10.33479966
94CSNK1A10.32530405
95BRAF0.31923358
96CDK11A0.31903345
97CAMK2A0.31887692
98LYN0.31877583
99IKBKB0.31637852
100PLK20.28949406

Predicted pathways (KEGG)

RankGene SetZ-score
1Ribosome_Homo sapiens_hsa030106.81411172
2Oxidative phosphorylation_Homo sapiens_hsa001903.73357737
3Parkinsons disease_Homo sapiens_hsa050123.33067895
4Cardiac muscle contraction_Homo sapiens_hsa042602.70641307
5Huntingtons disease_Homo sapiens_hsa050162.47824221
6RNA polymerase_Homo sapiens_hsa030202.47580392
7Ascorbate and aldarate metabolism_Homo sapiens_hsa000532.44287927
8Protein export_Homo sapiens_hsa030602.30503154
9Alzheimers disease_Homo sapiens_hsa050102.26378781
10Homologous recombination_Homo sapiens_hsa034402.08161307
11Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049322.05817137
12DNA replication_Homo sapiens_hsa030301.92640683
13Nucleotide excision repair_Homo sapiens_hsa034201.88404076
14Nicotine addiction_Homo sapiens_hsa050331.79731330
15Basal transcription factors_Homo sapiens_hsa030221.59012031
16Synthesis and degradation of ketone bodies_Homo sapiens_hsa000721.46647496
17Nitrogen metabolism_Homo sapiens_hsa009101.45081868
18Pentose and glucuronate interconversions_Homo sapiens_hsa000401.42688890
19Terpenoid backbone biosynthesis_Homo sapiens_hsa009001.35624433
20Dorso-ventral axis formation_Homo sapiens_hsa043201.27726577
21Mismatch repair_Homo sapiens_hsa034301.24977754
22Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002501.20923936
23Retinol metabolism_Homo sapiens_hsa008301.14773532
24Fanconi anemia pathway_Homo sapiens_hsa034601.14652929
25Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005341.13818291
26Morphine addiction_Homo sapiens_hsa050321.12841431
27Pyrimidine metabolism_Homo sapiens_hsa002401.11768448
28RNA degradation_Homo sapiens_hsa030181.10305386
29Phototransduction_Homo sapiens_hsa047441.09483035
30Spliceosome_Homo sapiens_hsa030401.08200315
31Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001301.06368760
32Steroid hormone biosynthesis_Homo sapiens_hsa001401.04900079
33Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005631.03785248
34Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008601.03559965
35Sulfur metabolism_Homo sapiens_hsa009200.98043196
36Proteasome_Homo sapiens_hsa030500.97955072
37Starch and sucrose metabolism_Homo sapiens_hsa005000.95968592
38Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030080.95529932
39Sulfur relay system_Homo sapiens_hsa041220.92278211
40Drug metabolism - cytochrome P450_Homo sapiens_hsa009820.91536216
41Chemical carcinogenesis_Homo sapiens_hsa052040.90842865
42alpha-Linolenic acid metabolism_Homo sapiens_hsa005920.87869339
43Linoleic acid metabolism_Homo sapiens_hsa005910.87013632
44Axon guidance_Homo sapiens_hsa043600.86724727
45Butanoate metabolism_Homo sapiens_hsa006500.85167660
46Neuroactive ligand-receptor interaction_Homo sapiens_hsa040800.83279792
47Cytosolic DNA-sensing pathway_Homo sapiens_hsa046230.81769630
48Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009800.81145208
49Insulin secretion_Homo sapiens_hsa049110.80038760
50Olfactory transduction_Homo sapiens_hsa047400.78966213
51T cell receptor signaling pathway_Homo sapiens_hsa046600.75968175
52GABAergic synapse_Homo sapiens_hsa047270.75327108
53Drug metabolism - other enzymes_Homo sapiens_hsa009830.73002056
54Glycine, serine and threonine metabolism_Homo sapiens_hsa002600.71544129
55Peroxisome_Homo sapiens_hsa041460.71458819
56Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa045500.68963457
57Folate biosynthesis_Homo sapiens_hsa007900.67842585
58Taurine and hypotaurine metabolism_Homo sapiens_hsa004300.65904331
59Purine metabolism_Homo sapiens_hsa002300.65300716
60One carbon pool by folate_Homo sapiens_hsa006700.65282666
61Cholinergic synapse_Homo sapiens_hsa047250.64433933
62Dopaminergic synapse_Homo sapiens_hsa047280.63176397
63Hedgehog signaling pathway_Homo sapiens_hsa043400.61767863
64Gastric acid secretion_Homo sapiens_hsa049710.58768389
65Oxytocin signaling pathway_Homo sapiens_hsa049210.58759292
66Tryptophan metabolism_Homo sapiens_hsa003800.57311555
67MAPK signaling pathway_Homo sapiens_hsa040100.55325692
68Melanoma_Homo sapiens_hsa052180.53592012
69Fat digestion and absorption_Homo sapiens_hsa049750.53075422
70Cysteine and methionine metabolism_Homo sapiens_hsa002700.52432244
71Alcoholism_Homo sapiens_hsa050340.52176894
72Basal cell carcinoma_Homo sapiens_hsa052170.50976644
73Caffeine metabolism_Homo sapiens_hsa002320.50912389
74TGF-beta signaling pathway_Homo sapiens_hsa043500.49045362
75Circadian entrainment_Homo sapiens_hsa047130.48518884
76Metabolic pathways_Homo sapiens_hsa011000.47960290
77Wnt signaling pathway_Homo sapiens_hsa043100.47681678
78GnRH signaling pathway_Homo sapiens_hsa049120.46551256
79Systemic lupus erythematosus_Homo sapiens_hsa053220.44526704
80Cocaine addiction_Homo sapiens_hsa050300.44109064
81Valine, leucine and isoleucine degradation_Homo sapiens_hsa002800.42628945
82Retrograde endocannabinoid signaling_Homo sapiens_hsa047230.40824653
83Ether lipid metabolism_Homo sapiens_hsa005650.39580572
84Ubiquitin mediated proteolysis_Homo sapiens_hsa041200.37099559
85beta-Alanine metabolism_Homo sapiens_hsa004100.35318163
86Serotonergic synapse_Homo sapiens_hsa047260.33112210
87Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.32336166
88Synaptic vesicle cycle_Homo sapiens_hsa047210.31900832
89Calcium signaling pathway_Homo sapiens_hsa040200.31506015
90Taste transduction_Homo sapiens_hsa047420.31498974
91Amphetamine addiction_Homo sapiens_hsa050310.31177936
92Ras signaling pathway_Homo sapiens_hsa040140.29471442
93Maturity onset diabetes of the young_Homo sapiens_hsa049500.29024165
94Circadian rhythm_Homo sapiens_hsa047100.28295788
95Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa005320.27901234
96Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa009700.27064056
97Primary immunodeficiency_Homo sapiens_hsa053400.27019526
98Fatty acid degradation_Homo sapiens_hsa000710.26797981
99Glutamatergic synapse_Homo sapiens_hsa047240.25322750
100Cytokine-cytokine receptor interaction_Homo sapiens_hsa040600.24956125

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