TBC1D3J

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
1mitochondrial ATP synthesis coupled proton transport (GO:0042776)8.21889117
2sequestering of actin monomers (GO:0042989)8.06578611
3alkaloid metabolic process (GO:0009820)7.10687212
4dopamine biosynthetic process (GO:0042416)6.77462808
5ATP synthesis coupled proton transport (GO:0015986)6.66079061
6energy coupled proton transport, down electrochemical gradient (GO:0015985)6.66079061
7response to insecticide (GO:0017085)6.59775326
8indolalkylamine metabolic process (GO:0006586)6.08076879
9serotonin metabolic process (GO:0042428)5.95527868
10mitochondrial electron transport, NADH to ubiquinone (GO:0006120)5.25470806
11electron transport chain (GO:0022900)5.01098635
12respiratory electron transport chain (GO:0022904)5.00903587
13toxin metabolic process (GO:0009404)4.97646487
14postsynaptic membrane organization (GO:0001941)4.94309857
15primary amino compound metabolic process (GO:1901160)4.91928495
16behavioral response to nicotine (GO:0035095)4.76155608
17multicellular organismal aging (GO:0010259)4.50187940
18ATP biosynthetic process (GO:0006754)4.30983734
19catecholamine biosynthetic process (GO:0042423)4.23447946
20catechol-containing compound biosynthetic process (GO:0009713)4.23447946
21establishment of protein localization to mitochondrial membrane (GO:0090151)4.08076051
22indole-containing compound metabolic process (GO:0042430)4.07789219
23epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)4.02409048
24mitochondrial respiratory chain complex I assembly (GO:0032981)4.01034818
25NADH dehydrogenase complex assembly (GO:0010257)4.01034818
26mitochondrial respiratory chain complex I biogenesis (GO:0097031)4.01034818
27T cell migration (GO:0072678)3.99608886
28protein complex biogenesis (GO:0070271)3.98394924
29platelet dense granule organization (GO:0060155)3.80259924
30hydrogen ion transmembrane transport (GO:1902600)3.78303663
31purine ribonucleoside triphosphate biosynthetic process (GO:0009206)3.77635030
32purine nucleoside triphosphate biosynthetic process (GO:0009145)3.76545878
33histone H3-K9 methylation (GO:0051567)3.69238763
34cellular biogenic amine biosynthetic process (GO:0042401)3.67489843
35regulation of synapse structural plasticity (GO:0051823)3.56126297
36amine biosynthetic process (GO:0009309)3.46624874
37DNA deamination (GO:0045006)3.45935373
38mitochondrial respiratory chain complex assembly (GO:0033108)3.44962806
39opioid receptor signaling pathway (GO:0038003)3.44285257
40proton transport (GO:0015992)3.40512956
41transepithelial transport (GO:0070633)3.36019178
42RNA destabilization (GO:0050779)3.35228116
43hydrogen transport (GO:0006818)3.33880094
44protein-cofactor linkage (GO:0018065)3.32713397
45regulation of action potential (GO:0098900)3.26424836
46ribonucleoside triphosphate biosynthetic process (GO:0009201)3.17424163
47detection of light stimulus involved in sensory perception (GO:0050962)3.14685294
48detection of light stimulus involved in visual perception (GO:0050908)3.14685294
49response to pheromone (GO:0019236)3.13936949
50respiratory burst (GO:0045730)3.08059670
51respiratory chain complex IV assembly (GO:0008535)3.05565661
52presynaptic membrane assembly (GO:0097105)3.02440965
53neuron cell-cell adhesion (GO:0007158)3.00954936
54male meiosis I (GO:0007141)2.96004765
55positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)2.92133880
56synaptic transmission, cholinergic (GO:0007271)2.91956783
57prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis (GO:0060522.90910189
58pyrimidine nucleobase catabolic process (GO:0006208)2.89926855
59hindbrain development (GO:0030902)2.88587775
60cytochrome complex assembly (GO:0017004)2.86249251
61presynaptic membrane organization (GO:0097090)2.84173091
62chaperone-mediated protein transport (GO:0072321)2.80445540
63histone H3-K9 modification (GO:0061647)2.80372512
64RNA localization (GO:0006403)2.78758072
65dopamine metabolic process (GO:0042417)2.74570787
66regulation of single stranded viral RNA replication via double stranded DNA intermediate (GO:00450912.74341682
67nucleoside triphosphate biosynthetic process (GO:0009142)2.72802123
68cytidine catabolic process (GO:0006216)2.67190336
69cytidine deamination (GO:0009972)2.67190336
70cytidine metabolic process (GO:0046087)2.67190336
71positive regulation of triglyceride biosynthetic process (GO:0010867)2.65845079
72pseudouridine synthesis (GO:0001522)2.65037646
73proteasome assembly (GO:0043248)2.64016757
74cellular ketone body metabolic process (GO:0046950)2.62361184
75anterograde synaptic vesicle transport (GO:0048490)2.62210308
76positive regulation of T cell migration (GO:2000406)2.62012460
77positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:003572.61413879
78neurotransmitter catabolic process (GO:0042135)2.59050651
79response to UV-C (GO:0010225)2.58744942
80positive regulation of T cell apoptotic process (GO:0070234)2.58609349
81positive regulation of action potential (GO:0045760)2.58000462
82prepulse inhibition (GO:0060134)2.55030014
83exocrine pancreas development (GO:0031017)2.54929518
84protein neddylation (GO:0045116)2.47827735
85regulation of rhodopsin mediated signaling pathway (GO:0022400)2.46822631
86meiosis I (GO:0007127)2.46685401
87regulation of tyrosine phosphorylation of Stat5 protein (GO:0042522)2.46551237
88regulation of inhibitory postsynaptic membrane potential (GO:0060080)2.43249577
89DNA double-strand break processing (GO:0000729)2.40041353
90serotonin receptor signaling pathway (GO:0007210)2.35937975
91prostate gland growth (GO:0060736)2.35864234
92otic vesicle formation (GO:0030916)2.35056842
93phenol-containing compound biosynthetic process (GO:0046189)2.35049954
94positive regulation of glycogen biosynthetic process (GO:0045725)2.34745152
95lymphocyte chemotaxis (GO:0048247)2.33783334
96ketone body metabolic process (GO:1902224)2.33739199
97epithelial cilium movement (GO:0003351)2.31588364
98negative regulation of leukocyte chemotaxis (GO:0002689)2.31572860
99fatty acid elongation (GO:0030497)2.31398131
100viral protein processing (GO:0019082)2.30463888

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1SOX9_22984422_ChIP-ChIP_TESTIS_Rat6.17848500
2EZH2_22144423_ChIP-Seq_EOC_Human5.56805941
3VDR_22108803_ChIP-Seq_LS180_Human4.51098769
4BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse3.59573754
5ZNF274_21170338_ChIP-Seq_K562_Hela3.19109030
6RBPJ_22232070_ChIP-Seq_NCS_Mouse3.13648013
7FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse3.05110254
8MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human2.36479481
9MYCN_21190229_ChIP-Seq_SHEP-21N_Human2.22693045
10TAF15_26573619_Chip-Seq_HEK293_Human2.11685549
11STAT6_21828071_ChIP-Seq_BEAS2B_Human2.08534226
12CTBP1_25329375_ChIP-Seq_LNCAP_Human2.07786792
13BMI1_23680149_ChIP-Seq_NPCS_Mouse2.03858599
14NR4A2_19515692_ChIP-ChIP_MN9D_Mouse2.01654165
15CBX2_27304074_Chip-Seq_ESCs_Mouse2.00650703
16EST1_17652178_ChIP-ChIP_JURKAT_Human1.95919525
17CTBP2_25329375_ChIP-Seq_LNCAP_Human1.95840980
18TP63_19390658_ChIP-ChIP_HaCaT_Human1.95725128
19HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human1.90877576
20POU5F1_16153702_ChIP-ChIP_HESCs_Human1.85376238
21GABP_17652178_ChIP-ChIP_JURKAT_Human1.79380115
22ZFP57_27257070_Chip-Seq_ESCs_Mouse1.63737697
23E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse1.63384308
24GLI1_17442700_ChIP-ChIP_MESCs_Mouse1.53714335
25GBX2_23144817_ChIP-Seq_PC3_Human1.48726422
26PIAS1_25552417_ChIP-Seq_VCAP_Human1.47028162
27REST_21632747_ChIP-Seq_MESCs_Mouse1.44971518
28TP53_22573176_ChIP-Seq_HFKS_Human1.44420072
29POU3F2_20337985_ChIP-ChIP_501MEL_Human1.42923313
30EZH2_27304074_Chip-Seq_ESCs_Mouse1.41855125
31MYC_18940864_ChIP-ChIP_HL60_Human1.41787361
32EED_16625203_ChIP-ChIP_MESCs_Mouse1.40965120
33RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.37876688
34BCAT_22108803_ChIP-Seq_LS180_Human1.36141550
35SUZ12_18692474_ChIP-Seq_MESCs_Mouse1.32831232
36ER_23166858_ChIP-Seq_MCF-7_Human1.31777796
37PDX1_19855005_ChIP-ChIP_MIN6_Mouse1.30987599
38GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse1.29330307
39DROSHA_22980978_ChIP-Seq_HELA_Human1.28761741
40KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human1.27184090
41NOTCH1_21737748_ChIP-Seq_TLL_Human1.26728042
42TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.25730510
43RNF2_27304074_Chip-Seq_NSC_Mouse1.25117969
44CTNNB1_20615089_ChIP-ChIP_FETAL_BRAIN_Human1.23996025
45SMAD3_21741376_ChIP-Seq_EPCs_Human1.23461163
46JARID2_20064375_ChIP-Seq_MESCs_Mouse1.22648127
47ERA_21632823_ChIP-Seq_H3396_Human1.21149223
48SUZ12_27294783_Chip-Seq_ESCs_Mouse1.19806532
49SUZ12_18555785_ChIP-Seq_MESCs_Mouse1.18595205
50P300_19829295_ChIP-Seq_ESCs_Human1.18537964
51JARID2_20075857_ChIP-Seq_MESCs_Mouse1.18156096
52SOX2_16153702_ChIP-ChIP_HESCs_Human1.18147693
53FUS_26573619_Chip-Seq_HEK293_Human1.17370858
54ELK1_19687146_ChIP-ChIP_HELA_Human1.17276039
55UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human1.14510189
56SUZ12_18692474_ChIP-Seq_MEFs_Mouse1.14473182
57MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human1.13281946
58AR_21572438_ChIP-Seq_LNCaP_Human1.13042074
59ETV2_25802403_ChIP-Seq_MESCs_Mouse1.11611895
60EZH2_27294783_Chip-Seq_ESCs_Mouse1.11462751
61SUZ12_16625203_ChIP-ChIP_MESCs_Mouse1.11249538
62SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.09392696
63FOXA1_27270436_Chip-Seq_PROSTATE_Human1.09380957
64FOXA1_25329375_ChIP-Seq_VCAP_Human1.09380957
65SUZ12_18974828_ChIP-Seq_MESCs_Mouse1.07477083
66PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.07163362
67NANOG_19829295_ChIP-Seq_ESCs_Human1.04971210
68SOX2_19829295_ChIP-Seq_ESCs_Human1.04971210
69SOX9_26525672_Chip-Seq_Limbbuds_Mouse1.04910221
70AUTS2_25519132_ChIP-Seq_293T-REX_Human1.03618308
71REST_18959480_ChIP-ChIP_MESCs_Mouse1.00331643
72PRDM14_20953172_ChIP-Seq_ESCs_Human1.00152883
73TOP2B_26459242_ChIP-Seq_MCF-7_Human0.97304240
74EWS_26573619_Chip-Seq_HEK293_Human0.96580165
75PBX1_22567123_ChIP-ChIP_OVCAR3_Human0.96571147
76FOXP2_21765815_ChIP-ChIP_NEURO2A_Mouse0.96148610
77IRF4_20064451_ChIP-Seq_CD4+T_Mouse0.95997232
78CBP_20019798_ChIP-Seq_JUKART_Human0.95997232
79TCF4_22108803_ChIP-Seq_LS180_Human0.92780617
80IRF1_21803131_ChIP-Seq_MONOCYTES_Human0.91949240
81EGR1_23403033_ChIP-Seq_LIVER_Mouse0.91867284
82PCGF2_27294783_Chip-Seq_NPCs_Mouse0.91649449
83AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human0.91495187
84VDR_23849224_ChIP-Seq_CD4+_Human0.91311229
85NANOG_20526341_ChIP-Seq_ESCs_Human0.91132292
86GATA3_21878914_ChIP-Seq_MCF-7_Human0.90940247
87FOXA1_21572438_ChIP-Seq_LNCaP_Human0.90164420
88RNF2_27304074_Chip-Seq_ESCs_Mouse0.90124862
89SMAD4_21741376_ChIP-Seq_EPCs_Human0.89891860
90CEBPA_26348894_ChIP-Seq_LIVER_Mouse0.89132586
91EBNA2_21746931_ChIP-Seq_IB4-LCL_Human0.88571804
92ETS2_20176728_ChIP-ChIP_TROPHOBLAST_STEM_CELLS_Mouse0.88531622
93EZH2_18974828_ChIP-Seq_MESCs_Mouse0.87641739
94RNF2_18974828_ChIP-Seq_MESCs_Mouse0.87641739
95GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.86744649
96SMAD4_21799915_ChIP-Seq_A2780_Human0.85633002
97NCOR_22424771_ChIP-Seq_293T_Human0.85474861
98EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human0.85307240
99NR3C1_21868756_ChIP-Seq_MCF10A_Human0.83763602
100AR_25329375_ChIP-Seq_VCAP_Human0.83368935

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0000569_abnormal_digit_pigmentation6.91688830
2MP0003880_abnormal_central_pattern4.23833680
3MP0005423_abnormal_somatic_nervous3.83874336
4MP0005645_abnormal_hypothalamus_physiol3.47427074
5MP0006292_abnormal_olfactory_placode3.09999707
6MP0002277_abnormal_respiratory_mucosa2.86778736
7MP0002735_abnormal_chemical_nociception2.73079235
8MP0004043_abnormal_pH_regulation2.42629338
9MP0003787_abnormal_imprinting2.35623137
10MP0005671_abnormal_response_to2.23869827
11MP0001968_abnormal_touch/_nociception2.22275186
12MP0009046_muscle_twitch2.12351442
13MP0009745_abnormal_behavioral_response1.98057798
14MP0005075_abnormal_melanosome_morpholog1.90750869
15MP0001529_abnormal_vocalization1.88358189
16MP0009379_abnormal_foot_pigmentation1.84030907
17MP0002064_seizures1.79891717
18MP0001905_abnormal_dopamine_level1.78603768
19MP0002272_abnormal_nervous_system1.77085510
20MP0000631_abnormal_neuroendocrine_gland1.73394255
21MP0003011_delayed_dark_adaptation1.71697174
22MP0002736_abnormal_nociception_after1.70013312
23MP0002733_abnormal_thermal_nociception1.64604129
24MP0003635_abnormal_synaptic_transmissio1.52096658
25MP0003195_calcinosis1.51243768
26MP0005386_behavior/neurological_phenoty1.48351165
27MP0004924_abnormal_behavior1.48351165
28MP0006276_abnormal_autonomic_nervous1.47286630
29MP0003045_fibrosis1.46817254
30MP0002138_abnormal_hepatobiliary_system1.41967274
31MP0002572_abnormal_emotion/affect_behav1.39527138
32MP0001970_abnormal_pain_threshold1.37167918
33MP0005084_abnormal_gallbladder_morpholo1.35940825
34MP0001440_abnormal_grooming_behavior1.34490329
35MP0004133_heterotaxia1.33540096
36MP0000372_irregular_coat_pigmentation1.33372532
37MP0001486_abnormal_startle_reflex1.30269536
38MP0008995_early_reproductive_senescence1.30017209
39MP0008872_abnormal_physiological_respon1.29632886
40MP0005187_abnormal_penis_morphology1.29054059
41MP0008877_abnormal_DNA_methylation1.27005247
42MP0003938_abnormal_ear_development1.24771142
43MP0004742_abnormal_vestibular_system1.23028337
44MP0004859_abnormal_synaptic_plasticity1.22467564
45MP0000778_abnormal_nervous_system1.22145507
46MP0001542_abnormal_bone_strength1.19400260
47MP0004381_abnormal_hair_follicle1.18873700
48MP0003122_maternal_imprinting1.18608142
49MP0002184_abnormal_innervation1.18264497
50MP0002653_abnormal_ependyma_morphology1.18115394
51MP0004145_abnormal_muscle_electrophysio1.16098635
52MP0001485_abnormal_pinna_reflex1.14305414
53MP0002067_abnormal_sensory_capabilities1.14157540
54MP0002063_abnormal_learning/memory/cond1.13279186
55MP0001984_abnormal_olfaction1.13172226
56MP0001293_anophthalmia1.12344834
57MP0004142_abnormal_muscle_tone1.12052856
58MP0003638_abnormal_response/metabolism_1.11207608
59MP0006072_abnormal_retinal_apoptosis1.09733238
60MP0003121_genomic_imprinting1.09163145
61MP0002751_abnormal_autonomic_nervous1.08463890
62MP0003878_abnormal_ear_physiology1.08115754
63MP0005377_hearing/vestibular/ear_phenot1.08115754
64MP0002876_abnormal_thyroid_physiology1.06816851
65MP0005551_abnormal_eye_electrophysiolog1.06057069
66MP0002822_catalepsy1.05643153
67MP0006035_abnormal_mitochondrial_morpho1.03435179
68MP0004270_analgesia0.98010284
69MP0000647_abnormal_sebaceous_gland0.97703255
70MP0003136_yellow_coat_color0.93417296
71MP0003137_abnormal_impulse_conducting0.91620866
72MP0002752_abnormal_somatic_nervous0.90508247
73MP0002557_abnormal_social/conspecific_i0.88993185
74MP0002734_abnormal_mechanical_nocicepti0.88149739
75MP0003890_abnormal_embryonic-extraembry0.87753793
76MP0002837_dystrophic_cardiac_calcinosis0.83039378
77MP0002928_abnormal_bile_duct0.80406628
78MP0008007_abnormal_cellular_replicative0.80380685
79MP0003698_abnormal_male_reproductive0.79137590
80MP0009785_altered_susceptibility_to0.77147967
81MP0005499_abnormal_olfactory_system0.75111058
82MP0005394_taste/olfaction_phenotype0.75111058
83MP0003866_abnormal_defecation0.74503315
84MP0001502_abnormal_circadian_rhythm0.73723815
85MP0001790_abnormal_immune_system0.73204923
86MP0005387_immune_system_phenotype0.73204923
87MP0010329_abnormal_lipoprotein_level0.71916757
88MP0002166_altered_tumor_susceptibility0.71377135
89MP0003937_abnormal_limbs/digits/tail_de0.71372834
90MP0002882_abnormal_neuron_morphology0.69982369
91MP0001501_abnormal_sleep_pattern0.69229222
92MP0005220_abnormal_exocrine_pancreas0.66035105
93MP0000955_abnormal_spinal_cord0.64788726
94MP0001879_abnormal_lymphatic_vessel0.64553811
95MP0002066_abnormal_motor_capabilities/c0.64126701
96MP0001324_abnormal_eye_pigmentation0.63976107
97MP0000026_abnormal_inner_ear0.63275281
98MP0003646_muscle_fatigue0.60643973
99MP0002168_other_aberrant_phenotype0.60431083
100MP0008004_abnormal_stomach_pH0.60356967

Predicted human phenotypes

RankGene SetZ-score
1Hypothermia (HP:0002045)9.07509663
2Limb dystonia (HP:0002451)7.65842747
3Abnormal pupillary function (HP:0007686)6.22144088
4Limb hypertonia (HP:0002509)6.21889791
53-Methylglutaconic aciduria (HP:0003535)4.71054417
6Type II lissencephaly (HP:0007260)4.52287126
7Lipid accumulation in hepatocytes (HP:0006561)4.28623617
8Increased hepatocellular lipid droplets (HP:0006565)4.26169550
9Mitochondrial inheritance (HP:0001427)4.23356128
10Hepatocellular necrosis (HP:0001404)4.22418112
11Medial flaring of the eyebrow (HP:0010747)4.21240878
12Retinal dysplasia (HP:0007973)3.86531001
13Renal Fanconi syndrome (HP:0001994)3.86238925
14Abnormal number of erythroid precursors (HP:0012131)3.79266231
15Acute necrotizing encephalopathy (HP:0006965)3.67671799
16Hepatic necrosis (HP:0002605)3.62731377
17Increased CSF lactate (HP:0002490)3.42062476
18Progressive macrocephaly (HP:0004481)3.40658431
19Abnormality of midbrain morphology (HP:0002418)3.33561606
20Molar tooth sign on MRI (HP:0002419)3.33561606
21Abnormality of cells of the erythroid lineage (HP:0012130)3.26328689
22Cerebellar dysplasia (HP:0007033)3.14561550
23Exertional dyspnea (HP:0002875)3.10018279
24Abnormal mitochondria in muscle tissue (HP:0008316)3.03888224
25Aplastic anemia (HP:0001915)3.01349866
26Increased intramyocellular lipid droplets (HP:0012240)2.98324622
27Decreased activity of cytochrome C oxidase in muscle tissue (HP:0003688)2.95642376
28Acute encephalopathy (HP:0006846)2.83232992
29Septo-optic dysplasia (HP:0100842)2.78259605
30Type 2 muscle fiber atrophy (HP:0003554)2.77451813
31Focal motor seizures (HP:0011153)2.75769928
32Stomach cancer (HP:0012126)2.74514341
33Respiratory difficulties (HP:0002880)2.74362238
34Generalized aminoaciduria (HP:0002909)2.74142616
35Increased muscle lipid content (HP:0009058)2.73818729
36Anterior segment dysgenesis (HP:0007700)2.64586305
37Protruding tongue (HP:0010808)2.60959414
38Lissencephaly (HP:0001339)2.54575121
39Muscle fiber atrophy (HP:0100295)2.51903974
40Emotional lability (HP:0000712)2.49220968
41Chronic sinusitis (HP:0011109)2.46012639
42Cerebral edema (HP:0002181)2.38037556
43Enlarged epiphyses (HP:0010580)2.35888669
44Abolished electroretinogram (ERG) (HP:0000550)2.33280717
45Bony spicule pigmentary retinopathy (HP:0007737)2.29127513
46Abnormality of renal resorption (HP:0011038)2.28749552
47Abnormal respiratory epithelium morphology (HP:0012253)2.27470902
48Abnormal respiratory motile cilium morphology (HP:0005938)2.27470902
49Chronic hepatic failure (HP:0100626)2.20808748
50Optic disc pallor (HP:0000543)2.19922488
51Concave nail (HP:0001598)2.18719260
52Congenital, generalized hypertrichosis (HP:0004540)2.18178263
53Gait imbalance (HP:0002141)2.16640941
54Abnormality of the pupil (HP:0000615)2.16244202
55Optic nerve hypoplasia (HP:0000609)2.15832282
56Broad-based gait (HP:0002136)2.12574450
57Decreased circulating renin level (HP:0003351)2.11174230
58Increased serum lactate (HP:0002151)2.10659586
59Hyperphosphaturia (HP:0003109)2.06307372
60Muscle abnormality related to mitochondrial dysfunction (HP:0003800)2.05657598
61Abnormal ciliary motility (HP:0012262)2.01619298
62Severe visual impairment (HP:0001141)2.00403306
63Aplasia/Hypoplasia of the optic nerve (HP:0008058)1.97847028
64Lactic acidosis (HP:0003128)1.97691201
65Abnormality of urine glucose concentration (HP:0011016)1.96132985
66Glycosuria (HP:0003076)1.96132985
67Choreoathetosis (HP:0001266)1.92409813
68Maternal diabetes (HP:0009800)1.92354140
69Prolonged QT interval (HP:0001657)1.91738918
70Abnormal respiratory motile cilium physiology (HP:0012261)1.91510255
71Fair hair (HP:0002286)1.87983511
72Decreased activity of mitochondrial respiratory chain (HP:0008972)1.87627924
73Abnormal activity of mitochondrial respiratory chain (HP:0011922)1.87627924
74Hyperventilation (HP:0002883)1.85999763
75Decreased central vision (HP:0007663)1.85674316
76Absent rod-and cone-mediated responses on ERG (HP:0007688)1.84248458
77Abnormal hair whorl (HP:0010721)1.83369935
78Abnormality of the fovea (HP:0000493)1.82145837
79Pachygyria (HP:0001302)1.79167395
80Abnormal urine phosphate concentration (HP:0012599)1.79060141
81Clumsiness (HP:0002312)1.78651494
82Congenital primary aphakia (HP:0007707)1.76721032
83Abnormality of abdominal situs (HP:0011620)1.73907335
84Abdominal situs inversus (HP:0003363)1.73907335
85Respiratory failure (HP:0002878)1.72857153
86Vaginal atresia (HP:0000148)1.69335076
87Prominent nasal bridge (HP:0000426)1.65825410
88Pancreatic cysts (HP:0001737)1.65388868
89X-linked dominant inheritance (HP:0001423)1.64775814
90Inability to walk (HP:0002540)1.64495344
91Hypophosphatemic rickets (HP:0004912)1.62993001
92Amelogenesis imperfecta (HP:0000705)1.61171598
93Absent/shortened dynein arms (HP:0200106)1.61105117
94Dynein arm defect of respiratory motile cilia (HP:0012255)1.61105117
95Abnormality of secondary sexual hair (HP:0009888)1.61078598
96Abnormality of the axillary hair (HP:0100134)1.61078598
97Genital tract atresia (HP:0001827)1.60953518
98Abnormal rod and cone electroretinograms (HP:0008323)1.60322727
99Hypotension (HP:0002615)1.58663829
100Prominent supraorbital ridges (HP:0000336)1.57268750

Predicted kinase interactions (KEA)

RankGene SetZ-score
1ZAK4.30126002
2MAP3K93.85371571
3TLK13.75432692
4ADRBK23.32306113
5MARK13.11112141
6TAOK32.97795552
7PINK12.46372520
8OXSR12.39061253
9NTRK22.38864925
10BCKDK2.37753692
11DYRK22.35550317
12WNK32.00862156
13TESK22.00570270
14KDR1.90370128
15VRK11.82675733
16MAP4K11.73714241
17SIK21.61140537
18MAPK131.55844623
19NTRK31.55619013
20GRK71.54486261
21CASK1.52078970
22VRK21.51377661
23GRK11.48377356
24BMPR1B1.42093788
25SYK1.41388134
26WNK41.39960778
27BRD41.36481311
28PHKG11.35787280
29PHKG21.35787280
30MAPK151.30522678
31BRAF1.23931855
32PNCK1.19036002
33TESK11.18443741
34FES1.17574543
35CDK191.15123870
36BUB11.14054475
37MAP2K21.10546346
38MKNK21.04281096
39INSRR0.96348104
40TYRO30.90826505
41OBSCN0.90782032
42EIF2AK10.87375806
43MAPK120.86142114
44STK390.82143031
45MAP4K20.78140724
46NEK20.76707554
47PRKCQ0.76074122
48RPS6KA50.74140810
49CAMK2A0.73759145
50BLK0.73737683
51ADRBK10.73203238
52ITK0.69299662
53PKN10.68529595
54KIT0.67223031
55ABL20.66791321
56ERBB30.65852808
57CAMK10.64155771
58CSNK1G20.63052148
59PAK30.62443474
60DAPK20.60971821
61MAP3K40.59197700
62ALK0.59010938
63TEC0.58642162
64MINK10.58339344
65PRKCG0.57540604
66PRKACA0.57227974
67PRKACB0.55178147
68BMX0.55122922
69MAP3K70.54342781
70NME10.53318175
71LYN0.52266606
72NUAK10.49631636
73FRK0.49376091
74CAMK40.48992774
75RPS6KA40.42114346
76TIE10.41935441
77MKNK10.40847185
78PRKCE0.40786693
79CSK0.40163906
80LCK0.39333373
81MAPK70.39043833
82PRKG10.38231387
83LIMK10.36952754
84PRKCA0.35564125
85EPHA40.34087308
86PLK40.34053990
87IKBKB0.34038722
88CSNK1A10.34026166
89JAK20.33798404
90MAPK90.33238468
91BRSK20.33205718
92FGFR10.33135797
93CSNK2A10.33031902
94BCR0.32436464
95ERBB20.31432600
96CAMKK20.31055260
97CDK50.29923901
98RIPK40.29858027
99CAMK2D0.29447459
100CAMK1G0.28690620

Predicted pathways (KEGG)

RankGene SetZ-score
1Oxidative phosphorylation_Homo sapiens_hsa001904.68580104
2Parkinsons disease_Homo sapiens_hsa050124.04775210
3Phenylalanine metabolism_Homo sapiens_hsa003603.75651002
4Cardiac muscle contraction_Homo sapiens_hsa042603.06340741
5Alzheimers disease_Homo sapiens_hsa050102.86982601
6Huntingtons disease_Homo sapiens_hsa050162.68873176
7Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049322.68599939
8Histidine metabolism_Homo sapiens_hsa003402.56441412
9Nicotine addiction_Homo sapiens_hsa050332.35744329
10Proteasome_Homo sapiens_hsa030502.29110289
11Primary immunodeficiency_Homo sapiens_hsa053402.19090620
12Ribosome_Homo sapiens_hsa030102.18294179
13Synthesis and degradation of ketone bodies_Homo sapiens_hsa000722.13504650
14Tryptophan metabolism_Homo sapiens_hsa003802.10439949
15Nitrogen metabolism_Homo sapiens_hsa009102.02384475
16Tyrosine metabolism_Homo sapiens_hsa003501.96481250
17Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005331.86065916
18Amphetamine addiction_Homo sapiens_hsa050311.74718585
19Phototransduction_Homo sapiens_hsa047441.72491545
20Protein export_Homo sapiens_hsa030601.65541787
21Cocaine addiction_Homo sapiens_hsa050301.63432227
22Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001301.55796532
23Serotonergic synapse_Homo sapiens_hsa047261.51632215
24Taste transduction_Homo sapiens_hsa047421.49192916
25Neuroactive ligand-receptor interaction_Homo sapiens_hsa040801.43150252
26Olfactory transduction_Homo sapiens_hsa047401.36228517
27alpha-Linolenic acid metabolism_Homo sapiens_hsa005921.33510411
28RNA polymerase_Homo sapiens_hsa030201.31086021
29Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005631.22222825
30Autoimmune thyroid disease_Homo sapiens_hsa053201.21273270
31Allograft rejection_Homo sapiens_hsa053301.19694845
32Morphine addiction_Homo sapiens_hsa050321.19083796
33Graft-versus-host disease_Homo sapiens_hsa053321.10991617
34Type I diabetes mellitus_Homo sapiens_hsa049401.01948786
35Basal transcription factors_Homo sapiens_hsa030221.01935319
36Alcoholism_Homo sapiens_hsa050341.01591129
37GABAergic synapse_Homo sapiens_hsa047271.00285999
38Dopaminergic synapse_Homo sapiens_hsa047280.99210322
39Linoleic acid metabolism_Homo sapiens_hsa005910.98529375
40Intestinal immune network for IgA production_Homo sapiens_hsa046720.97577712
41Asthma_Homo sapiens_hsa053100.96470899
42Circadian entrainment_Homo sapiens_hsa047130.94841264
43Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.92067156
44T cell receptor signaling pathway_Homo sapiens_hsa046600.91760072
45Retrograde endocannabinoid signaling_Homo sapiens_hsa047230.88605389
46Ether lipid metabolism_Homo sapiens_hsa005650.84583538
47Steroid biosynthesis_Homo sapiens_hsa001000.83034137
48Cytosolic DNA-sensing pathway_Homo sapiens_hsa046230.79147562
49Systemic lupus erythematosus_Homo sapiens_hsa053220.78750929
50Hematopoietic cell lineage_Homo sapiens_hsa046400.74382807
51Glutamatergic synapse_Homo sapiens_hsa047240.70815270
52Antigen processing and presentation_Homo sapiens_hsa046120.68311082
53SNARE interactions in vesicular transport_Homo sapiens_hsa041300.66732989
54Oxytocin signaling pathway_Homo sapiens_hsa049210.65657134
55Butanoate metabolism_Homo sapiens_hsa006500.63908503
56Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.62974227
57Peroxisome_Homo sapiens_hsa041460.61608357
58Selenocompound metabolism_Homo sapiens_hsa004500.57989399
59Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049600.57337896
60Long-term depression_Homo sapiens_hsa047300.57326491
61Rheumatoid arthritis_Homo sapiens_hsa053230.50952953
62Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054100.49013426
63Synaptic vesicle cycle_Homo sapiens_hsa047210.47080495
64Caffeine metabolism_Homo sapiens_hsa002320.45799341
65RNA degradation_Homo sapiens_hsa030180.44992457
66cAMP signaling pathway_Homo sapiens_hsa040240.44812127
67Dorso-ventral axis formation_Homo sapiens_hsa043200.44402566
68Collecting duct acid secretion_Homo sapiens_hsa049660.44270738
69Ovarian steroidogenesis_Homo sapiens_hsa049130.44126147
70Chemical carcinogenesis_Homo sapiens_hsa052040.43079476
71Taurine and hypotaurine metabolism_Homo sapiens_hsa004300.42847562
72Cholinergic synapse_Homo sapiens_hsa047250.41082157
73Retinol metabolism_Homo sapiens_hsa008300.39986703
74B cell receptor signaling pathway_Homo sapiens_hsa046620.33066969
75Regulation of autophagy_Homo sapiens_hsa041400.31959554
76Mineral absorption_Homo sapiens_hsa049780.31684763
77Inflammatory bowel disease (IBD)_Homo sapiens_hsa053210.31596419
78Maturity onset diabetes of the young_Homo sapiens_hsa049500.30696721
79Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047500.30473138
80MAPK signaling pathway_Homo sapiens_hsa040100.29840892
81Ascorbate and aldarate metabolism_Homo sapiens_hsa000530.29363686
82Dilated cardiomyopathy_Homo sapiens_hsa054140.28379279
83Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042610.28280192
84Primary bile acid biosynthesis_Homo sapiens_hsa001200.27971063
85Natural killer cell mediated cytotoxicity_Homo sapiens_hsa046500.27889247
86Cytokine-cytokine receptor interaction_Homo sapiens_hsa040600.26536704
87Jak-STAT signaling pathway_Homo sapiens_hsa046300.26257043
88Metabolic pathways_Homo sapiens_hsa011000.26032445
89Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030080.25766538
90Purine metabolism_Homo sapiens_hsa002300.25744454
91Chemokine signaling pathway_Homo sapiens_hsa040620.21327115
92Fatty acid elongation_Homo sapiens_hsa000620.20470485
93Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa045500.20198015
94Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.19518407
95Renal cell carcinoma_Homo sapiens_hsa052110.19419244
96Salivary secretion_Homo sapiens_hsa049700.19342801
97Oocyte meiosis_Homo sapiens_hsa041140.17991665
98Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054120.17474447
99Prolactin signaling pathway_Homo sapiens_hsa049170.17219176
100Prion diseases_Homo sapiens_hsa050200.15269998

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