TBC1D3B

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 that is similar to TBC1 domain family, member 3. This protein contains a TBC (Tre-2, Bub2p, and Cdc16p) domain, which is found in proteins involved in RAB GTPase signaling and vesicle trafficking. There are multiple copies of this gene located within a cluster of chemokine genes on chromosome 17q. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1sperm capacitation (GO:0048240)9.37777689
2plasma membrane fusion (GO:0045026)8.49728514
3response to pheromone (GO:0019236)8.31239386
4chromosome condensation (GO:0030261)7.85527807
5DNA packaging (GO:0006323)7.67656727
6microtubule depolymerization (GO:0007019)7.33374706
7spermatid development (GO:0007286)7.21561948
8single strand break repair (GO:0000012)6.89809093
9multicellular organism reproduction (GO:0032504)6.88446966
10protein targeting to Golgi (GO:0000042)6.84954998
11establishment of protein localization to Golgi (GO:0072600)6.71778927
12sperm-egg recognition (GO:0035036)6.64505293
13spermatid nucleus differentiation (GO:0007289)6.64075287
14phosphatidylethanolamine biosynthetic process (GO:0006646)6.61751066
15retrograde transport, vesicle recycling within Golgi (GO:0000301)6.42907433
16microtubule polymerization or depolymerization (GO:0031109)6.34550959
17reproduction (GO:0000003)6.31299721
18phosphatidylethanolamine metabolic process (GO:0046337)6.08389631
19calcium ion-dependent exocytosis (GO:0017156)6.05822168
20protein polyglutamylation (GO:0018095)5.95053445
21rRNA methylation (GO:0031167)5.79388569
22sexual reproduction (GO:0019953)5.68502205
23* regulation of Rab GTPase activity (GO:0032313)5.67329171
24* positive regulation of Rab GTPase activity (GO:0032851)5.67329171
25centriole replication (GO:0007099)5.64504904
26regulation of transcription involved in cell fate commitment (GO:0060850)5.63144599
27binding of sperm to zona pellucida (GO:0007339)5.57098440
28cell-cell recognition (GO:0009988)5.54972129
29spermatogenesis (GO:0007283)5.50310358
30male gamete generation (GO:0048232)5.48342343
31axonemal dynein complex assembly (GO:0070286)5.45535433
32microtubule severing (GO:0051013)5.41355221
33negative regulation of inclusion body assembly (GO:0090084)5.38201333
34cilium or flagellum-dependent cell motility (GO:0001539)5.11473063
35gamete generation (GO:0007276)4.98820524
36centriole assembly (GO:0098534)4.95329048
37protein localization to Golgi apparatus (GO:0034067)4.85242310
38regulation of cilium movement (GO:0003352)4.77862493
39rRNA modification (GO:0000154)4.58334652
40Golgi to endosome transport (GO:0006895)4.52987494
41antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (G4.51469107
42single fertilization (GO:0007338)4.49899941
43regulation of centriole replication (GO:0046599)4.44367382
44cell wall macromolecule metabolic process (GO:0044036)4.40488472
45motile cilium assembly (GO:0044458)4.27432192
46cellular ketone body metabolic process (GO:0046950)4.24312737
47chromatin silencing (GO:0006342)4.20305439
48RNA destabilization (GO:0050779)4.17389028
49musculoskeletal movement (GO:0050881)4.10875243
50multicellular organismal movement (GO:0050879)4.10875243
51germ cell development (GO:0007281)4.06003762
52cellular process involved in reproduction in multicellular organism (GO:0022412)4.05642615
53multicellular organismal reproductive process (GO:0048609)4.00366197
54seminiferous tubule development (GO:0072520)3.99788619
55cell wall macromolecule catabolic process (GO:0016998)3.99556402
56response to acidic pH (GO:0010447)3.97794663
57organic cation transport (GO:0015695)3.87281718
58cerebral cortex neuron differentiation (GO:0021895)3.77270842
59regulation of inclusion body assembly (GO:0090083)3.77094988
60fertilization (GO:0009566)3.74455175
61peptidyl-threonine dephosphorylation (GO:0035970)3.72272172
62cartilage development involved in endochondral bone morphogenesis (GO:0060351)3.69682486
63ketone body metabolic process (GO:1902224)3.69486084
64nucleus organization (GO:0006997)3.65688746
65regulation of ARF GTPase activity (GO:0032312)3.64944678
66cellular response to pH (GO:0071467)3.63919284
67histone H3-K9 demethylation (GO:0033169)3.60500513
68regulation of T-helper 2 cell differentiation (GO:0045628)3.52647813
69epithelial cilium movement (GO:0003351)3.45384324
70microtubule nucleation (GO:0007020)3.32137269
71negative regulation of Rho protein signal transduction (GO:0035024)3.32033759
72coenzyme catabolic process (GO:0009109)3.17794399
73cilium movement (GO:0003341)3.14121179
74regulation of cilium assembly (GO:1902017)3.10862442
75regulation of interleukin-13 production (GO:0032656)3.10514329
76regulation of microtubule-based movement (GO:0060632)3.09659681
77homeostasis of number of cells within a tissue (GO:0048873)3.08288598
78membrane protein intracellular domain proteolysis (GO:0031293)3.06292752
79peptide catabolic process (GO:0043171)3.04880994
80negative regulation of histone methylation (GO:0031061)3.01290627
81negative regulation of gene expression, epigenetic (GO:0045814)2.98376939
82regulation of histone H3-K27 methylation (GO:0061085)2.97953021
83protein depolymerization (GO:0051261)2.95086343
84NAD biosynthetic process (GO:0009435)2.94028949
85regulation of guanylate cyclase activity (GO:0031282)2.90001122
86nucleosome disassembly (GO:0006337)2.89005393
87protein-DNA complex disassembly (GO:0032986)2.89005393
88regulation of female gonad development (GO:2000194)2.85903850
89vesicle transport along microtubule (GO:0047496)2.85425584
90positive regulation of guanylate cyclase activity (GO:0031284)2.83226343
91polyamine biosynthetic process (GO:0006596)2.82522635
92multicellular organismal development (GO:0007275)2.80880765
93receptor recycling (GO:0001881)2.79385974
94mesenchymal cell differentiation involved in kidney development (GO:0072161)2.74354559
95mesenchymal cell differentiation involved in renal system development (GO:2001012)2.74354559
96cranial nerve morphogenesis (GO:0021602)2.73798673
97negative regulation of granulocyte differentiation (GO:0030853)2.73018042
98fusion of sperm to egg plasma membrane (GO:0007342)11.2769587
99sperm motility (GO:0030317)10.8818037
100acrosome reaction (GO:0007340)10.8768872

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat5.06087738
2MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human3.50037117
3DROSHA_22980978_ChIP-Seq_HELA_Human2.49427194
4VDR_20736230_ChIP-Seq_LYMPHOBLASTOID_Human2.26074580
5ELF1_20517297_ChIP-Seq_JURKAT_Human2.17904115
6EZH2_22144423_ChIP-Seq_EOC_Human2.14806637
7SOX9_22984422_ChIP-ChIP_TESTIS_Rat2.08953579
8TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse2.06505826
9POU5F1_26923725_Chip-Seq_MESODERM_Mouse2.00342183
10TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse2.00342183
11* SMC4_20622854_ChIP-Seq_HELA_Human1.94500720
12LXR_22292898_ChIP-Seq_THP-1_Human1.93846664
13P68_20966046_ChIP-Seq_HELA_Human1.92982335
14CTCF_27219007_Chip-Seq_Bcells_Human1.92001630
15* BCL6_27268052_Chip-Seq_Bcells_Human1.87204952
16ERA_21632823_ChIP-Seq_H3396_Human1.86403450
17IRF4_20064451_ChIP-Seq_CD4+T_Mouse1.83164216
18CBP_20019798_ChIP-Seq_JUKART_Human1.83164216
19WDR5_24793694_ChIP-Seq_LNCAP_Human1.82961011
20BCOR_27268052_Chip-Seq_Bcells_Human1.81242491
21E2F1_20622854_ChIP-Seq_HELA_Human1.80947786
22RAC3_21632823_ChIP-Seq_H3396_Human1.79517136
23* RBPJ_21746931_ChIP-Seq_IB4-LCL_Human1.79336035
24* EBNA2_21746931_ChIP-Seq_IB4-LCL_Human1.77555517
25PHF8_20622854_ChIP-Seq_HELA_Human1.73849319
26CTBP2_25329375_ChIP-Seq_LNCAP_Human1.71026837
27NANOG_20526341_ChIP-Seq_ESCs_Human1.70822760
28STAT6_21828071_ChIP-Seq_BEAS2B_Human1.65948942
29TP63_22573176_ChIP-Seq_HFKS_Human1.61691543
30EBNA1_20929547_Chip-Seq_RAJI-cells_Human1.60455023
31CTBP1_25329375_ChIP-Seq_LNCAP_Human1.54863588
32PPARD_23208498_ChIP-Seq_MDA-MB-231_Human1.52446428
33SMAD2/3_21741376_ChIP-Seq_ESCs_Human1.51655618
34SCL_21571218_ChIP-Seq_MEGAKARYOCYTES_Human1.49948026
35P300_27268052_Chip-Seq_Bcells_Human1.48632412
36MYC_19829295_ChIP-Seq_ESCs_Human1.48564101
37* OCT4_20526341_ChIP-Seq_ESCs_Human1.47399680
38YY1_22570637_ChIP-Seq_MALME-3M_Human1.46620727
39ARNT_22903824_ChIP-Seq_MCF-7_Human1.45052478
40EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human1.44824640
41* CTCF_20526341_ChIP-Seq_ESCs_Human1.43432316
42TDRD3_21172665_ChIP-Seq_MCF-7_Human1.38378455
43ER_23166858_ChIP-Seq_MCF-7_Human1.37701297
44P63_20808887_ChIP-Seq_KERATINOCYTES_Human1.32325319
45* TAF2_19829295_ChIP-Seq_ESCs_Human1.32033567
46RUNX1_27514584_Chip-Seq_MCF-7_Human1.25604115
47UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human1.24991247
48THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse1.24929738
49ERA_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human1.22254077
50SUZ12_27294783_Chip-Seq_ESCs_Mouse1.22036495
51SMAD4_21741376_ChIP-Seq_EPCs_Human1.21356934
52SA1_27219007_Chip-Seq_Bcells_Human1.21253365
53DMRT1_21621532_ChIP-ChIP_FETAL_Ovary1.21081360
54OCT4_19829295_ChIP-Seq_ESCs_Human1.19608286
55P53_21459846_ChIP-Seq_SAOS-2_Human1.18930813
56KLF1_20508144_ChIP-Seq_FETAL-LIVER-ERYTHROID_Mouse1.18877225
57SMAD3_21741376_ChIP-Seq_ESCs_Human1.18735651
58SPI1_20517297_ChIP-Seq_HL60_Human1.16740388
59CEBPB_22108803_ChIP-Seq_LS180_Human1.16566947
60RUNX_20019798_ChIP-Seq_JUKART_Human1.14140242
61* EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human1.13378202
62GATA1_21571218_ChIP-Seq_MEGAKARYOCYTES_Human1.11354531
63SA1_27219007_Chip-Seq_ERYTHROID_Human1.10963043
64* KLF5_25053715_ChIP-Seq_YYC3_Human1.10789516
65GATA2_21571218_ChIP-Seq_MEGAKARYOCYTES_Human1.09864068
66AR_25329375_ChIP-Seq_VCAP_Human1.09715626
67MYCN_27167114_Chip-Seq_NEUROBLASTOMA_Human1.09181588
68SMRT_27268052_Chip-Seq_Bcells_Human1.08226840
69EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.07921151
70RUNX1_26923725_Chip-Seq_HPCs_Mouse1.07432988
71GATA3_21878914_ChIP-Seq_MCF-7_Human1.07339749
72SOX2_22085726_ChIP-Seq_NPCs_Mouse1.07330333
73SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.06631905
74FUS_26573619_Chip-Seq_HEK293_Human1.06155867
75GATA1_19941826_ChIP-Seq_K562_Human1.04471859
76HNFA_21074721_ChIP-Seq_CACO-2_Human1.04310960
77TCF4_18268006_ChIP-ChIP_LS174T_Human1.03819504
78EGR1_20690147_ChIP-Seq_ERYTHROLEUKEMIA_Human1.03087623
79EZH2_27294783_Chip-Seq_ESCs_Mouse1.02374380
80CBX2_22325352_ChIP-Seq_293T-Rex_Human1.01693130
81ETV1_20927104_ChIP-Seq_GIST48_Human1.01075899
82CDX2_21074721_ChIP-Seq_CACO-2_Mouse1.00691335
83JUN_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human1.00214513
84KLF4_19829295_ChIP-Seq_ESCs_Human1.00149862
85RBPJ_21746931_ChIP-Seq_IB4_Human0.98547980
86TP53_18474530_ChIP-ChIP_U2OS_Human0.98045216
87OCT1_27270436_Chip-Seq_PROSTATE_Human0.97256265
88* AUTS2_25519132_ChIP-Seq_293T-REX_Human0.96410118
89NFIB_24661679_ChIP-Seq_LUNG_Mouse0.96059160
90FLI1_26923725_Chip-Seq_MACROPHAGESS_Mouse0.95867909
91* ETV2_25802403_ChIP-Seq_MESCs_Mouse0.95286569
92P63_26484246_Chip-Seq_KERATINOCYTES_Human0.94712645
93NFYB_21822215_ChIP-Seq_K562_Human0.94536760
94VDR_24787735_ChIP-Seq_THP-1_Human0.94393583
95SMAD4_21741376_ChIP-Seq_HESCs_Human0.94243352
96TBL1_22424771_ChIP-Seq_293T_Human0.93533161
97SMAD3_21741376_ChIP-Seq_EPCs_Human0.93443368
98* ERG_20517297_ChIP-Seq_VCAP_Human0.93075349
99TAF15_26573619_Chip-Seq_HEK293_Human0.92612317
100FOXH1_21741376_ChIP-Seq_ESCs_Human0.92012689

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0003878_abnormal_ear_physiology5.81176028
2MP0005377_hearing/vestibular/ear_phenot5.81176028
3MP0005670_abnormal_white_adipose4.74464564
4MP0001348_abnormal_lacrimal_gland4.17757861
5MP0003698_abnormal_male_reproductive4.17059678
6MP0001929_abnormal_gametogenesis3.54927857
7MP0002822_catalepsy2.95052865
8MP0005451_abnormal_body_composition2.64513538
9MP0000678_abnormal_parathyroid_gland2.39641097
10MP0002161_abnormal_fertility/fecundity2.28781564
11MP0002132_abnormal_respiratory_system2.04968107
12MP0005410_abnormal_fertilization11.5924876
13MP0003646_muscle_fatigue1.86081862
14MP0002210_abnormal_sex_determination1.60688400
15MP0005379_endocrine/exocrine_gland_phen1.57563280
16MP0005423_abnormal_somatic_nervous1.54623571
17MP0004510_myositis1.54360188
18MP0003718_maternal_effect1.53196329
19MP0005310_abnormal_salivary_gland1.52078326
20MP0001485_abnormal_pinna_reflex1.49408498
21MP0003879_abnormal_hair_cell1.44409163
22MP0002249_abnormal_larynx_morphology1.44407223
23MP0002138_abnormal_hepatobiliary_system1.36486685
24MP0001765_abnormal_ion_homeostasis1.33228990
25MP0009053_abnormal_anal_canal1.28869991
26MP0001486_abnormal_startle_reflex1.28104116
27MP0002282_abnormal_trachea_morphology1.24765202
28MP0004859_abnormal_synaptic_plasticity1.24413254
29MP0001145_abnormal_male_reproductive1.21068016
30MP0002735_abnormal_chemical_nociception1.19767361
31MP0001968_abnormal_touch/_nociception1.19191038
32MP0000653_abnormal_sex_gland1.17550926
33MP0000534_abnormal_ureter_morphology1.14993525
34MP0002234_abnormal_pharynx_morphology1.12915896
35MP0002127_abnormal_cardiovascular_syste1.04731337
36MP0001963_abnormal_hearing_physiology1.03291980
37MP0005666_abnormal_adipose_tissue1.00905146
38MP0004742_abnormal_vestibular_system0.96741608
39MP0005167_abnormal_blood-brain_barrier0.95388441
40MP0009115_abnormal_fat_cell0.95212182
41MP0005248_abnormal_Harderian_gland0.93728802
42MP0003091_abnormal_cell_migration0.93209891
43MP0000026_abnormal_inner_ear0.92840665
44MP0005375_adipose_tissue_phenotype0.90329712
45MP0005083_abnormal_biliary_tract0.85999131
46MP0000003_abnormal_adipose_tissue0.84506400
47MP0005395_other_phenotype0.82591211
48MP0003172_abnormal_lysosome_physiology0.81012799
49MP0004233_abnormal_muscle_weight0.80114989
50MP0003011_delayed_dark_adaptation0.77569593
51MP0008569_lethality_at_weaning0.76135486
52MP0002229_neurodegeneration0.74493964
53MP0001905_abnormal_dopamine_level0.74268901
54MP0002733_abnormal_thermal_nociception0.72087030
55MP0000955_abnormal_spinal_cord0.71821549
56MP0001666_abnormal_nutrient_absorption0.69909050
57MP0002067_abnormal_sensory_capabilities0.65643756
58MP0005551_abnormal_eye_electrophysiolog0.61679737
59MP0000470_abnormal_stomach_morphology0.61115452
60MP0000681_abnormal_thyroid_gland0.60520768
61MP0004484_altered_response_of0.59324759
62MP0008004_abnormal_stomach_pH0.56693818
63MP0004085_abnormal_heartbeat0.56348699
64MP0001545_abnormal_hematopoietic_system0.55932946
65MP0005397_hematopoietic_system_phenotyp0.55932946
66MP0005535_abnormal_body_temperature0.54820415
67MP0009764_decreased_sensitivity_to0.54337395
68MP0001970_abnormal_pain_threshold0.51750983
69MP0000249_abnormal_blood_vessel0.50930829
70MP0004036_abnormal_muscle_relaxation0.48112631
71MP0002572_abnormal_emotion/affect_behav0.45519937
72MP0008961_abnormal_basal_metabolism0.43801419
73MP0002557_abnormal_social/conspecific_i0.43521563
74MP0005636_abnormal_mineral_homeostasis0.43006484
75MP0000049_abnormal_middle_ear0.42876402
76MP0001270_distended_abdomen0.42254946
77MP0001440_abnormal_grooming_behavior0.42248886
78MP0009278_abnormal_bone_marrow0.41627526
79MP0003632_abnormal_nervous_system0.41226276
80MP0002168_other_aberrant_phenotype0.39950817
81MP0008874_decreased_physiological_sensi0.37407350
82MP0003137_abnormal_impulse_conducting0.36885870
83MP0002928_abnormal_bile_duct0.36235028
84MP0003631_nervous_system_phenotype0.35603257
85MP0008995_early_reproductive_senescence0.35173170
86MP0003699_abnormal_female_reproductive0.33793014
87MP0004084_abnormal_cardiac_muscle0.32634765
88MP0010386_abnormal_urinary_bladder0.32341679
89MP0002269_muscular_atrophy0.30845240
90MP0002933_joint_inflammation0.29091977
91MP0009745_abnormal_behavioral_response0.29013487
92MP0001849_ear_inflammation0.28620764
93MP0003115_abnormal_respiratory_system0.28498426
94MP0009697_abnormal_copulation0.28183574
95MP0003119_abnormal_digestive_system0.27776736
96MP0005623_abnormal_meninges_morphology0.27770447
97MP0008770_decreased_survivor_rate0.26773800
98MP0005367_renal/urinary_system_phenotyp0.26717361
99MP0000516_abnormal_urinary_system0.26717361
100MP0001533_abnormal_skeleton_physiology0.26591219

Predicted human phenotypes

RankGene SetZ-score
1Severe visual impairment (HP:0001141)7.93042117
2Asymmetric septal hypertrophy (HP:0001670)6.10113558
3Bell-shaped thorax (HP:0001591)5.40559687
4Attenuation of retinal blood vessels (HP:0007843)5.26407031
5Bony spicule pigmentary retinopathy (HP:0007737)5.25042074
6Dynein arm defect of respiratory motile cilia (HP:0012255)5.02127218
7Absent/shortened dynein arms (HP:0200106)5.02127218
8Hypoplastic ischia (HP:0003175)4.80993373
9Parkinsonism with favorable response to dopaminergic medication (HP:0002548)4.78783056
10Male infertility (HP:0003251)4.64546398
11Enlarged epiphyses (HP:0010580)4.55737892
12Hyperkalemia (HP:0002153)4.37035339
13Resting tremor (HP:0002322)4.35339752
14Abnormality of the ischium (HP:0003174)4.28966531
15Tubulointerstitial nephritis (HP:0001970)3.97814581
16Facial shape deformation (HP:0011334)3.91372111
17Potter facies (HP:0002009)3.91372111
18Abnormal ciliary motility (HP:0012262)3.84917703
19Infertility (HP:0000789)3.77246736
20Chronic hepatic failure (HP:0100626)3.75798875
21Impulsivity (HP:0100710)3.73443780
22Aplasia/Hypoplasia of the pubic bone (HP:0009104)3.70494970
23Nasal polyposis (HP:0100582)3.69463250
24Abnormal respiratory motile cilium physiology (HP:0012261)3.64694796
25Abnormal respiratory epithelium morphology (HP:0012253)3.56474416
26Abnormal respiratory motile cilium morphology (HP:0005938)3.56474416
27Aplasia/Hypoplasia of the earlobes (HP:0009906)3.45002024
28Abnormal rod and cone electroretinograms (HP:0008323)3.39092310
29Cone-rod dystrophy (HP:0000548)3.34052741
30Abnormality of macular pigmentation (HP:0008002)3.31336449
31Postural instability (HP:0002172)3.14683926
32Hypoplasia of the thymus (HP:0000778)3.13809936
33Respiratory insufficiency due to defective ciliary clearance (HP:0200073)3.09590835
34Epiphyseal dysplasia (HP:0002656)3.00723628
35Abnormality of the nasal mucosa (HP:0000433)2.99243989
36Abnormality of the costochondral junction (HP:0000919)2.87620846
37Abnormal spermatogenesis (HP:0008669)2.77853999
38Widely patent fontanelles and sutures (HP:0004492)2.75197538
39Abnormal urine output (HP:0012590)2.62732534
40Portal hypertension (HP:0001409)2.60011248
41Nephronophthisis (HP:0000090)2.58966900
42Hypoalphalipoproteinemia (HP:0003233)2.54737310
43Abnormality of the hepatic vasculature (HP:0006707)2.53073923
44Aplasia/Hypoplasia of the capital femoral epiphysis (HP:0005003)2.52366039
45Absent epiphyses (HP:0010577)2.52366039
46Azoospermia (HP:0000027)2.52077010
47Progressive sensorineural hearing impairment (HP:0000408)2.51908207
48Hypophosphatemic rickets (HP:0004912)2.51763218
49Truncal obesity (HP:0001956)2.43065979
50Protuberant abdomen (HP:0001538)2.41807460
51Peritonitis (HP:0002586)2.39950153
52Abnormality of potassium homeostasis (HP:0011042)2.39436956
53Abnormality of dental color (HP:0011073)2.36846534
54Progressive cerebellar ataxia (HP:0002073)2.36130449
55Gastrointestinal infarctions (HP:0005244)2.35852740
56Stage 5 chronic kidney disease (HP:0003774)2.34413687
57Abnormality of the aortic arch (HP:0012303)2.30807576
58Abnormality of the pubic bones (HP:0003172)2.23640501
59Abnormality of renal excretion (HP:0011036)2.22779354
60Abnormality of the renal medulla (HP:0100957)2.21892623
61Flattened epiphyses (HP:0003071)2.21031428
62Amelogenesis imperfecta (HP:0000705)2.20119062
63Polydipsia (HP:0001959)2.16171281
64Abnormal drinking behavior (HP:0030082)2.16171281
65Abnormality of the epiphysis of the femoral head (HP:0010574)2.14674429
66Generalized aminoaciduria (HP:0002909)2.14283436
67Renovascular hypertension (HP:0100817)2.11832897
68Recurrent pneumonia (HP:0006532)2.07590637
69Short ribs (HP:0000773)2.07157476
70Abnormality involving the epiphyses of the lower limbs (HP:0006500)2.06983412
71Abnormality of femoral epiphyses (HP:0006499)2.06983412
72Tubulointerstitial abnormality (HP:0001969)2.05476517
73Renal dysplasia (HP:0000110)2.05240753
74Intellectual disability, moderate (HP:0002342)2.03450243
75Vertebral clefting (HP:0008428)2.01628870
76Polyuria (HP:0000103)2.00396593
77Rhinitis (HP:0012384)1.98416156
78Ventricular tachycardia (HP:0004756)1.96344023
79Abnormality of the femoral head (HP:0003368)1.92993751
80Congenital sensorineural hearing impairment (HP:0008527)1.91384311
81Hyponatremia (HP:0002902)1.90026798
82Unilateral renal agenesis (HP:0000122)1.85749338
83Sandal gap (HP:0001852)1.83172004
84Double outlet right ventricle (HP:0001719)1.83058714
85Congenital malformation of the right heart (HP:0011723)1.83058714
86Mixed hearing impairment (HP:0000410)1.80296432
87Neoplasm of the heart (HP:0100544)1.79073070
88Thin bony cortex (HP:0002753)1.78807104
89Flat capital femoral epiphysis (HP:0003370)1.77614385
90Abnormality of the parathyroid morphology (HP:0011766)1.75611948
91Esophageal varix (HP:0002040)1.73493681
92Anterior segment dysgenesis (HP:0007700)1.71489013
93Cone-shaped epiphyses of the phalanges of the hand (HP:0010230)1.70721845
94Decreased central vision (HP:0007663)1.69513760
95Abnormality of chloride homeostasis (HP:0011422)1.68832909
96Atrophic scars (HP:0001075)1.68225520
97Menstrual irregularities (HP:0000858)1.68221765
98Bulbous nose (HP:0000414)1.67190982
99Occipital encephalocele (HP:0002085)1.66615855
100Tubular atrophy (HP:0000092)1.66342583

Predicted kinase interactions (KEA)

RankGene SetZ-score
1PLK47.64902373
2DDR25.74398508
3TESK15.29881301
4INSRR3.98889493
5STK383.26397614
6MST1R3.07253122
7PLK22.52085810
8MAPK152.40377084
9BRD42.27378259
10CAMK1G2.26055691
11STK38L2.20695853
12PRKD32.09280451
13CDK121.87111643
14WNK11.83063535
15PNCK1.82491242
16MAP4K21.72850358
17PIK3CG1.70700436
18PDPK11.64138626
19PDK11.49472474
20DYRK1B1.37607895
21CAMK1D1.28154314
22PTK2B1.26648467
23CDK71.26059304
24SIK21.25382598
25KSR21.24753686
26WNK41.19078064
27MAP3K111.08986090
28RPS6KA20.98436708
29RIPK40.92477039
30NEK60.91199786
31PRKG20.88162117
32BLK0.84654716
33JAK30.84145264
34TRIB30.83548421
35AKT30.81580357
36MET0.79645364
37PRKAA20.76766291
38MARK20.68474227
39RPS6KC10.68246752
40RPS6KL10.68246752
41TYRO30.66822935
42MAP3K20.65704879
43RPS6KA60.65005329
44RPS6KA10.64159841
45ICK0.64028058
46TESK20.63230896
47LATS10.62091792
48MTOR0.62014853
49MAP3K90.57409376
50PRKG10.57223841
51UHMK10.55380907
52MAPK110.55261433
53MAP2K20.53115253
54LATS20.52650066
55MAP3K70.52643648
56MUSK0.51311020
57CAMK10.50964222
58BRAF0.49840191
59MAP3K10.49275789
60ROCK10.48772335
61RIPK10.48596413
62CAMK40.47843948
63STK390.44084629
64MAPK10.41921709
65CDK40.40551282
66SGK2230.39879452
67SGK4940.39879452
68GSK3B0.39619065
69MAP3K80.39576955
70CDK20.39435767
71ACVR1B0.39147066
72TNK20.37960632
73MAP3K130.37080465
74MAPK80.36718177
75PRKCZ0.32162674
76CDK10.32051861
77FRK0.28345893
78NEK20.27597298
79SGK10.27590096
80BMPR1B0.26271752
81OXSR10.24116892
82CDK30.23777327
83PRKAA10.22302480
84PRKCB0.21054457
85MAPK100.20755508
86CHUK0.20202287
87AKT10.20143556
88CHEK10.19566112
89MAPK140.18829704
90JAK20.18350265
91SGK20.17974792
92GRK60.17431044
93SGK30.15712133
94MAP2K60.15702379
95IKBKB0.15637287
96LMTK20.15184823
97DAPK20.13892434
98ARAF0.13229731
99PRKCH0.11348647
100MAP4K10.09405980

Predicted pathways (KEGG)

RankGene SetZ-score
1Fatty acid biosynthesis_Homo sapiens_hsa000615.17596370
2Synthesis and degradation of ketone bodies_Homo sapiens_hsa000724.68616118
3Olfactory transduction_Homo sapiens_hsa047403.06888876
4Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049612.27575488
5Glycerophospholipid metabolism_Homo sapiens_hsa005642.17543019
6Butirosin and neomycin biosynthesis_Homo sapiens_hsa005241.95444510
7Dorso-ventral axis formation_Homo sapiens_hsa043201.83563100
8ABC transporters_Homo sapiens_hsa020101.69297375
9Type II diabetes mellitus_Homo sapiens_hsa049301.68500833
10Adipocytokine signaling pathway_Homo sapiens_hsa049201.58389049
11Butanoate metabolism_Homo sapiens_hsa006501.55446476
12Taste transduction_Homo sapiens_hsa047421.54876126
13Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007601.50070962
14Inositol phosphate metabolism_Homo sapiens_hsa005621.36581318
15Protein digestion and absorption_Homo sapiens_hsa049741.25293305
16Endocytosis_Homo sapiens_hsa041441.20021377
17Progesterone-mediated oocyte maturation_Homo sapiens_hsa049141.19330619
18Allograft rejection_Homo sapiens_hsa053301.15274600
19Graft-versus-host disease_Homo sapiens_hsa053321.14743677
20Longevity regulating pathway - multiple species_Homo sapiens_hsa042131.14245190
21Phosphatidylinositol signaling system_Homo sapiens_hsa040701.13178593
22Thyroid hormone signaling pathway_Homo sapiens_hsa049191.12400781
23Autoimmune thyroid disease_Homo sapiens_hsa053201.11262618
24Acute myeloid leukemia_Homo sapiens_hsa052211.08755808
25Fatty acid degradation_Homo sapiens_hsa000711.08707451
26VEGF signaling pathway_Homo sapiens_hsa043701.08155935
27Synaptic vesicle cycle_Homo sapiens_hsa047211.06512686
28Type I diabetes mellitus_Homo sapiens_hsa049401.05852083
29Calcium signaling pathway_Homo sapiens_hsa040201.01340293
30Selenocompound metabolism_Homo sapiens_hsa004500.99891390
31Salivary secretion_Homo sapiens_hsa049700.99136889
32Phenylalanine metabolism_Homo sapiens_hsa003600.96551615
33Neuroactive ligand-receptor interaction_Homo sapiens_hsa040800.95955325
34Influenza A_Homo sapiens_hsa051640.95540806
35Viral myocarditis_Homo sapiens_hsa054160.89734117
36cAMP signaling pathway_Homo sapiens_hsa040240.88730574
37Estrogen signaling pathway_Homo sapiens_hsa049150.87290448
38Carbohydrate digestion and absorption_Homo sapiens_hsa049730.86903485
39Antigen processing and presentation_Homo sapiens_hsa046120.84233810
40Fatty acid metabolism_Homo sapiens_hsa012120.82314710
41Aldosterone synthesis and secretion_Homo sapiens_hsa049250.81331079
42Glycerolipid metabolism_Homo sapiens_hsa005610.80903839
43Fc gamma R-mediated phagocytosis_Homo sapiens_hsa046660.80873145
44B cell receptor signaling pathway_Homo sapiens_hsa046620.79654777
45Prolactin signaling pathway_Homo sapiens_hsa049170.78883747
46Morphine addiction_Homo sapiens_hsa050320.77175435
47Glycolysis / Gluconeogenesis_Homo sapiens_hsa000100.76930499
48Gastric acid secretion_Homo sapiens_hsa049710.76856415
49Arginine biosynthesis_Homo sapiens_hsa002200.76631150
50PPAR signaling pathway_Homo sapiens_hsa033200.76416060
51AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa049330.76023767
52ECM-receptor interaction_Homo sapiens_hsa045120.73878014
53Bile secretion_Homo sapiens_hsa049760.73753428
54Hedgehog signaling pathway_Homo sapiens_hsa043400.72868135
55Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049600.70807759
56Cholinergic synapse_Homo sapiens_hsa047250.69311030
57Circadian entrainment_Homo sapiens_hsa047130.66658995
58MAPK signaling pathway_Homo sapiens_hsa040100.66118492
59Oocyte meiosis_Homo sapiens_hsa041140.65846089
60Jak-STAT signaling pathway_Homo sapiens_hsa046300.65818741
61Arginine and proline metabolism_Homo sapiens_hsa003300.64769054
62Choline metabolism in cancer_Homo sapiens_hsa052310.63244074
63Vascular smooth muscle contraction_Homo sapiens_hsa042700.62726390
64Renin-angiotensin system_Homo sapiens_hsa046140.62319764
65Protein processing in endoplasmic reticulum_Homo sapiens_hsa041410.61802320
66Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.61764354
67Retrograde endocannabinoid signaling_Homo sapiens_hsa047230.58429236
68Fc epsilon RI signaling pathway_Homo sapiens_hsa046640.58385459
69Phospholipase D signaling pathway_Homo sapiens_hsa040720.57289359
70Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.54494454
71Insulin resistance_Homo sapiens_hsa049310.53752479
72Platelet activation_Homo sapiens_hsa046110.53303000
73Toxoplasmosis_Homo sapiens_hsa051450.53165991
74RNA transport_Homo sapiens_hsa030130.52235563
75Nicotine addiction_Homo sapiens_hsa050330.51756437
76Non-small cell lung cancer_Homo sapiens_hsa052230.51613040
77Focal adhesion_Homo sapiens_hsa045100.48603819
78Glutamatergic synapse_Homo sapiens_hsa047240.47538287
79mTOR signaling pathway_Homo sapiens_hsa041500.47077366
80Long-term potentiation_Homo sapiens_hsa047200.45318169
81Oxytocin signaling pathway_Homo sapiens_hsa049210.44238574
82Renin secretion_Homo sapiens_hsa049240.43589712
83Tight junction_Homo sapiens_hsa045300.42300071
84T cell receptor signaling pathway_Homo sapiens_hsa046600.41313615
85Chemokine signaling pathway_Homo sapiens_hsa040620.41312794
86Notch signaling pathway_Homo sapiens_hsa043300.40363540
87Phototransduction_Homo sapiens_hsa047440.40043803
88cGMP-PKG signaling pathway_Homo sapiens_hsa040220.39168040
89Osteoclast differentiation_Homo sapiens_hsa043800.39089242
90Primary bile acid biosynthesis_Homo sapiens_hsa001200.38705607
91Natural killer cell mediated cytotoxicity_Homo sapiens_hsa046500.36448010
92Viral carcinogenesis_Homo sapiens_hsa052030.35355929
93Sulfur relay system_Homo sapiens_hsa041220.34514307
94Regulation of actin cytoskeleton_Homo sapiens_hsa048100.34149037
95Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047500.33128067
96Fat digestion and absorption_Homo sapiens_hsa049750.32678995
97Leishmaniasis_Homo sapiens_hsa051400.32348477
98Lysine degradation_Homo sapiens_hsa003100.31892145
99Insulin signaling pathway_Homo sapiens_hsa049100.31767919
100Sphingolipid signaling pathway_Homo sapiens_hsa040710.31315335

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