H3F3AP3

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
1behavioral response to nicotine (GO:0035095)5.50894071
2ribosomal small subunit assembly (GO:0000028)5.45757441
3viral transcription (GO:0019083)5.09609165
4protein neddylation (GO:0045116)5.08140498
5translational termination (GO:0006415)4.86934221
6ribosomal small subunit biogenesis (GO:0042274)4.37554744
7translational elongation (GO:0006414)4.21242281
8SRP-dependent cotranslational protein targeting to membrane (GO:0006614)4.15333767
9cotranslational protein targeting to membrane (GO:0006613)4.13196134
10water-soluble vitamin biosynthetic process (GO:0042364)4.12192382
11protein targeting to ER (GO:0045047)4.05225573
12protein complex biogenesis (GO:0070271)3.95220236
13epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)3.91545160
14mitochondrial electron transport, NADH to ubiquinone (GO:0006120)3.91450504
15establishment of protein localization to endoplasmic reticulum (GO:0072599)3.88982251
16ATP synthesis coupled proton transport (GO:0015986)3.88397313
17energy coupled proton transport, down electrochemical gradient (GO:0015985)3.88397313
18protein localization to endoplasmic reticulum (GO:0070972)3.84287121
19positive regulation of T cell apoptotic process (GO:0070234)3.78067421
20pyrimidine nucleobase catabolic process (GO:0006208)3.74871766
21iron-sulfur cluster assembly (GO:0016226)3.71775315
22metallo-sulfur cluster assembly (GO:0031163)3.71775315
23cellular protein complex disassembly (GO:0043624)3.67952895
24kynurenine metabolic process (GO:0070189)3.64354767
25viral life cycle (GO:0019058)3.63238479
26respiratory electron transport chain (GO:0022904)3.60912430
27mitochondrial respiratory chain complex I biogenesis (GO:0097031)3.60344649
28mitochondrial respiratory chain complex I assembly (GO:0032981)3.60344649
29NADH dehydrogenase complex assembly (GO:0010257)3.60344649
30electron transport chain (GO:0022900)3.58656806
31chaperone-mediated protein transport (GO:0072321)3.57853750
32nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)3.56846003
33sequestering of actin monomers (GO:0042989)3.54091446
34mitochondrial respiratory chain complex assembly (GO:0033108)3.46575248
35ubiquinone biosynthetic process (GO:0006744)3.44511187
36establishment of protein localization to mitochondrial membrane (GO:0090151)3.42609317
37ubiquinone metabolic process (GO:0006743)3.33090466
38indolalkylamine metabolic process (GO:0006586)3.27077193
39mitochondrial ATP synthesis coupled proton transport (GO:0042776)3.26458129
40epithelial cilium movement (GO:0003351)3.24349327
41translational initiation (GO:0006413)3.23839373
42positive regulation of gastrulation (GO:2000543)3.22575551
43cytochrome complex assembly (GO:0017004)3.19047594
44DNA deamination (GO:0045006)3.16891729
45respiratory chain complex IV assembly (GO:0008535)3.16362798
46positive regulation of lymphocyte apoptotic process (GO:0070230)3.16188895
47tryptophan catabolic process (GO:0006569)3.13440997
48indole-containing compound catabolic process (GO:0042436)3.13440997
49indolalkylamine catabolic process (GO:0046218)3.13440997
50maturation of SSU-rRNA (GO:0030490)3.12917384
51cellular biogenic amine catabolic process (GO:0042402)3.12335468
52amine catabolic process (GO:0009310)3.12335468
53protein complex disassembly (GO:0043241)3.11473053
54transmission of nerve impulse (GO:0019226)3.10420173
55regulation of inhibitory postsynaptic membrane potential (GO:0060080)3.10169482
56piRNA metabolic process (GO:0034587)3.07347786
57neuron fate determination (GO:0048664)3.06786648
58establishment of mitochondrion localization (GO:0051654)3.05966687
59macromolecular complex disassembly (GO:0032984)3.04864995
60gamma-aminobutyric acid transport (GO:0015812)3.04304395
61negative regulation of mast cell activation (GO:0033004)3.03715673
62pattern specification involved in kidney development (GO:0061004)3.03027358
63hydrogen ion transmembrane transport (GO:1902600)3.01980229
64nucleobase catabolic process (GO:0046113)3.01622960
65cell proliferation in forebrain (GO:0021846)3.00314123
66translation (GO:0006412)2.95866221
67cornea development in camera-type eye (GO:0061303)2.94207814
68protein polyglutamylation (GO:0018095)2.93379403
69quinone biosynthetic process (GO:1901663)2.92493608
70adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)2.89161591
71detection of light stimulus involved in sensory perception (GO:0050962)2.87717555
72detection of light stimulus involved in visual perception (GO:0050908)2.87717555
73ribosomal large subunit biogenesis (GO:0042273)2.81821807
74telencephalon development (GO:0021537)2.81038830
75negative regulation of oligodendrocyte differentiation (GO:0048715)2.78943576
76spinal cord association neuron differentiation (GO:0021527)2.78843717
77protein targeting to membrane (GO:0006612)2.78741126
78nonmotile primary cilium assembly (GO:0035058)2.74751061
79proton transport (GO:0015992)2.71839359
80negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244)2.71400725
81intraciliary transport (GO:0042073)2.68516684
82pyrimidine deoxyribonucleotide catabolic process (GO:0009223)2.68317677
83nephron epithelium morphogenesis (GO:0072088)2.68093331
84nephron tubule morphogenesis (GO:0072078)2.68093331
85forebrain neuron differentiation (GO:0021879)2.67103882
86regulation of single stranded viral RNA replication via double stranded DNA intermediate (GO:00450912.65577945
87segment specification (GO:0007379)2.65143491
88hydrogen transport (GO:0006818)2.64813340
89regulation of action potential (GO:0098900)2.64782023
90cellular component biogenesis (GO:0044085)2.64781217
91mitochondrion transport along microtubule (GO:0047497)2.64063630
92establishment of mitochondrion localization, microtubule-mediated (GO:0034643)2.64063630
93short-term memory (GO:0007614)2.63289289
94RNA splicing, via endonucleolytic cleavage and ligation (GO:0000394)2.62717523
95tRNA splicing, via endonucleolytic cleavage and ligation (GO:0006388)2.62717523
96anterograde synaptic vesicle transport (GO:0048490)2.62434749
97hypothalamus development (GO:0021854)2.62205295
98thalamus development (GO:0021794)2.60566190
99platelet dense granule organization (GO:0060155)2.58566871
100GTP biosynthetic process (GO:0006183)2.58163341

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1EZH2_22144423_ChIP-Seq_EOC_Human7.26768915
2TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat3.64253104
3GABP_17652178_ChIP-ChIP_JURKAT_Human2.94165034
4SOX9_22984422_ChIP-ChIP_TESTIS_Rat2.90489889
5NR4A2_19515692_ChIP-ChIP_MN9D_Mouse2.60217302
6KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human2.56481184
7VDR_22108803_ChIP-Seq_LS180_Human2.50060066
8ZNF274_21170338_ChIP-Seq_K562_Hela2.41612239
9HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse2.33803216
10HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human2.33474828
11ELF1_17652178_ChIP-ChIP_JURKAT_Human2.29603421
12CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons2.19966113
13REST_21632747_ChIP-Seq_MESCs_Mouse2.03166327
14EZH2_27304074_Chip-Seq_ESCs_Mouse1.87872695
15BMI1_23680149_ChIP-Seq_NPCS_Mouse1.86698479
16JARID2_20064375_ChIP-Seq_MESCs_Mouse1.85704813
17TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.85530278
18EST1_17652178_ChIP-ChIP_JURKAT_Human1.81127632
19EZH2_27294783_Chip-Seq_ESCs_Mouse1.80932314
20ETS1_20019798_ChIP-Seq_JURKAT_Human1.76615182
21CBX2_27304074_Chip-Seq_ESCs_Mouse1.71007462
22JARID1A_20064375_ChIP-Seq_MESCs_Mouse1.69416555
23SUZ12_27294783_Chip-Seq_ESCs_Mouse1.65688115
24REST_18959480_ChIP-ChIP_MESCs_Mouse1.65229065
25EED_16625203_ChIP-ChIP_MESCs_Mouse1.61803730
26GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse1.61580458
27CTBP1_25329375_ChIP-Seq_LNCAP_Human1.55331269
28IRF1_19129219_ChIP-ChIP_H3396_Human1.54627949
29MYCN_21190229_ChIP-Seq_SHEP-21N_Human1.51384433
30TP53_22573176_ChIP-Seq_HFKS_Human1.50400475
31GBX2_23144817_ChIP-Seq_PC3_Human1.50168304
32RCOR2_21632747_ChIP-Seq_MESCs_Mouse1.49631909
33GLI1_17442700_ChIP-ChIP_MESCs_Mouse1.48218501
34SUZ12_18692474_ChIP-Seq_MESCs_Mouse1.41786188
35IGF1R_20145208_ChIP-Seq_DFB_Human1.39145336
36GATA1_26923725_Chip-Seq_HPCs_Mouse1.39036919
37JARID2_20075857_ChIP-Seq_MESCs_Mouse1.38867794
38RNF2_27304074_Chip-Seq_ESCs_Mouse1.36986023
39E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse1.36075637
40SIN3B_21632747_ChIP-Seq_MESCs_Mouse1.33612998
41POU5F1_16153702_ChIP-ChIP_HESCs_Human1.28883738
42EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human1.28189929
43MYC_18940864_ChIP-ChIP_HL60_Human1.27287283
44ETV2_25802403_ChIP-Seq_MESCs_Mouse1.27005843
45RNF2_27304074_Chip-Seq_NSC_Mouse1.26817266
46NOTCH1_17114293_ChIP-ChIP_T-ALL_Human1.22552469
47ERA_21632823_ChIP-Seq_H3396_Human1.19800776
48PPARD_23208498_ChIP-Seq_MDA-MB-231_Human1.17909404
49PDX1_19855005_ChIP-ChIP_MIN6_Mouse1.17032295
50EWS_26573619_Chip-Seq_HEK293_Human1.15048906
51CHD1_19587682_ChIP-ChIP_MESCs_Mouse1.14777507
52NCOR_22424771_ChIP-Seq_293T_Human1.13848137
53FOXP2_21765815_ChIP-ChIP_NEURO2A_Mouse1.13458663
54YY1_21170310_ChIP-Seq_MESCs_Mouse1.12551497
55PCGF2_27294783_Chip-Seq_ESCs_Mouse1.12049548
56MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human1.10607775
57EBNA2_21746931_ChIP-Seq_IB4-LCL_Human1.10190934
58CTNNB1_20615089_ChIP-ChIP_FETAL_BRAIN_Human1.09220258
59RCOR3_21632747_ChIP-Seq_MESCs_Mouse1.08652572
60FLI1_27457419_Chip-Seq_LIVER_Mouse1.08364458
61GATA3_21878914_ChIP-Seq_MCF-7_Human1.07744030
62CEBPB_24764292_ChIP-Seq_MC3T3_Mouse1.07507090
63CTBP2_25329375_ChIP-Seq_LNCAP_Human1.07037233
64SUZ12_18692474_ChIP-Seq_MEFs_Mouse1.06925067
65RBPJ_21746931_ChIP-Seq_IB4-LCL_Human1.06852936
66AUTS2_25519132_ChIP-Seq_293T-REX_Human1.06579713
67VDR_23849224_ChIP-Seq_CD4+_Human1.06533083
68SUZ12_16625203_ChIP-ChIP_MESCs_Mouse1.05738511
69CEBPA_26348894_ChIP-Seq_LIVER_Mouse1.05609197
70PHC1_16625203_ChIP-ChIP_MESCs_Mouse1.05290504
71TAF2_19829295_ChIP-Seq_ESCs_Human1.01849502
72SIN3A_21632747_ChIP-Seq_MESCs_Mouse1.01672831
73ELK1_19687146_ChIP-ChIP_HELA_Human1.01298591
74RNF2_18974828_ChIP-Seq_MESCs_Mouse1.01188577
75EZH2_18974828_ChIP-Seq_MESCs_Mouse1.01188577
76CHD7_19251738_ChIP-ChIP_MESCs_Mouse1.00839642
77SUZ12_18555785_ChIP-Seq_MESCs_Mouse1.00653378
78SUZ12_20075857_ChIP-Seq_MESCs_Mouse1.00462049
79RNF2_16625203_ChIP-ChIP_MESCs_Mouse0.95361926
80GABP_19822575_ChIP-Seq_HepG2_Human0.95318560
81BCAT_22108803_ChIP-Seq_LS180_Human0.95292142
82RING1B_27294783_Chip-Seq_ESCs_Mouse0.94414327
83IRF4_20064451_ChIP-Seq_CD4+T_Mouse0.93555871
84CBP_20019798_ChIP-Seq_JUKART_Human0.93555871
85P53_22127205_ChIP-Seq_FIBROBLAST_Human0.93408458
86NANOG_20526341_ChIP-Seq_ESCs_Human0.93377083
87SRF_21415370_ChIP-Seq_HL-1_Mouse0.92747808
88EBNA1_20929547_Chip-Seq_RAJI-cells_Human0.92677660
89SUZ12_18974828_ChIP-Seq_MESCs_Mouse0.92672300
90P300_19829295_ChIP-Seq_ESCs_Human0.92432478
91ZFP57_27257070_Chip-Seq_ESCs_Mouse0.92197642
92TP53_20018659_ChIP-ChIP_R1E_Mouse0.91974095
93CTCF_20526341_ChIP-Seq_ESCs_Human0.91427060
94FOXA1_25329375_ChIP-Seq_VCAP_Human0.91378941
95FOXA1_27270436_Chip-Seq_PROSTATE_Human0.91378941
96KLF5_20875108_ChIP-Seq_MESCs_Mouse0.91214731
97PCGF2_27294783_Chip-Seq_NPCs_Mouse0.91150433
98AR_20517297_ChIP-Seq_VCAP_Human0.90164808
99PBX1_22567123_ChIP-ChIP_OVCAR3_Human0.88575003
100MYC_19829295_ChIP-Seq_ESCs_Human0.88471742

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0006292_abnormal_olfactory_placode4.57526923
2MP0003136_yellow_coat_color3.35111036
3MP0003787_abnormal_imprinting3.01269651
4MP0009379_abnormal_foot_pigmentation2.95538918
5MP0002653_abnormal_ependyma_morphology2.63755523
6MP0002102_abnormal_ear_morphology2.56391688
7MP0003880_abnormal_central_pattern2.48162472
8MP0003123_paternal_imprinting2.34652034
9MP0008875_abnormal_xenobiotic_pharmacok2.32947940
10MP0006276_abnormal_autonomic_nervous2.29669591
11MP0008789_abnormal_olfactory_epithelium2.25253748
12MP0008877_abnormal_DNA_methylation2.19171216
13MP0004142_abnormal_muscle_tone2.19026904
14MP0003122_maternal_imprinting2.13295579
15MP0003646_muscle_fatigue2.10841918
16MP0005394_taste/olfaction_phenotype2.08104603
17MP0005499_abnormal_olfactory_system2.08104603
18MP0001968_abnormal_touch/_nociception2.04840910
19MP0001188_hyperpigmentation2.01639440
20MP0001984_abnormal_olfaction1.97836360
21MP0004885_abnormal_endolymph1.86787158
22MP0001485_abnormal_pinna_reflex1.85617147
23MP0000778_abnormal_nervous_system1.78419279
24MP0001529_abnormal_vocalization1.77295369
25MP0003121_genomic_imprinting1.76562971
26MP0008872_abnormal_physiological_respon1.72248289
27MP0003878_abnormal_ear_physiology1.69879352
28MP0005377_hearing/vestibular/ear_phenot1.69879352
29MP0002272_abnormal_nervous_system1.69777711
30MP0005551_abnormal_eye_electrophysiolog1.64658753
31MP0002733_abnormal_thermal_nociception1.59872887
32MP0004742_abnormal_vestibular_system1.57910451
33MP0005084_abnormal_gallbladder_morpholo1.54881629
34MP0001970_abnormal_pain_threshold1.52227904
35MP0000049_abnormal_middle_ear1.50568223
36MP0002160_abnormal_reproductive_system1.50262054
37MP0001440_abnormal_grooming_behavior1.49721468
38MP0004147_increased_porphyrin_level1.47989742
39MP0001293_anophthalmia1.45297933
40MP0004145_abnormal_muscle_electrophysio1.40663692
41MP0002638_abnormal_pupillary_reflex1.38737146
42MP0005389_reproductive_system_phenotype1.38448946
43MP0002736_abnormal_nociception_after1.36667990
44MP0002184_abnormal_innervation1.35843358
45MP0002063_abnormal_learning/memory/cond1.35349471
46MP0008775_abnormal_heart_ventricle1.31062255
47MP0002938_white_spotting1.29184753
48MP0000955_abnormal_spinal_cord1.28816145
49MP0003635_abnormal_synaptic_transmissio1.28310599
50MP0000631_abnormal_neuroendocrine_gland1.27680607
51MP0009745_abnormal_behavioral_response1.27387991
52MP0001986_abnormal_taste_sensitivity1.27205013
53MP0002876_abnormal_thyroid_physiology1.25904255
54MP0003879_abnormal_hair_cell1.25745567
55MP0002095_abnormal_skin_pigmentation1.24885113
56MP0006072_abnormal_retinal_apoptosis1.22160212
57MP0002163_abnormal_gland_morphology1.21668966
58MP0001486_abnormal_startle_reflex1.21020296
59MP0000372_irregular_coat_pigmentation1.19572011
60MP0002572_abnormal_emotion/affect_behav1.19543455
61MP0002752_abnormal_somatic_nervous1.19121158
62MP0000026_abnormal_inner_ear1.17996502
63MP0002138_abnormal_hepatobiliary_system1.15566770
64MP0004133_heterotaxia1.15093887
65MP0002557_abnormal_social/conspecific_i1.14761720
66MP0005195_abnormal_posterior_eye1.12991796
67MP0003011_delayed_dark_adaptation1.11478183
68MP0005645_abnormal_hypothalamus_physiol1.11467929
69MP0003938_abnormal_ear_development1.10064707
70MP0001919_abnormal_reproductive_system1.09441842
71MP0001324_abnormal_eye_pigmentation1.09190957
72MP0002735_abnormal_chemical_nociception1.08942821
73MP0004859_abnormal_synaptic_plasticity1.05095128
74MP0002067_abnormal_sensory_capabilities1.04826031
75MP0002928_abnormal_bile_duct1.04480434
76MP0001963_abnormal_hearing_physiology1.02189367
77MP0003942_abnormal_urinary_system1.00623809
78MP0002882_abnormal_neuron_morphology0.99790240
79MP0002734_abnormal_mechanical_nocicepti0.98468024
80MP0002210_abnormal_sex_determination0.98259999
81MP0005423_abnormal_somatic_nervous0.95346077
82MP0001905_abnormal_dopamine_level0.93342916
83MP0008058_abnormal_DNA_repair0.92706631
84MP0002064_seizures0.92229940
85MP0002229_neurodegeneration0.90097964
86MP0005671_abnormal_response_to0.87699483
87MP0003186_abnormal_redox_activity0.85257898
88MP0003567_abnormal_fetal_cardiomyocyte0.80830161
89MP0002837_dystrophic_cardiac_calcinosis0.79850403
90MP0009046_muscle_twitch0.78212990
91MP0002152_abnormal_brain_morphology0.77601613
92MP0009780_abnormal_chondrocyte_physiolo0.76769302
93MP0000230_abnormal_systemic_arterial0.71303963
94MP0002277_abnormal_respiratory_mucosa0.70547645
95MP0004130_abnormal_muscle_cell0.70101629
96MP0002822_catalepsy0.69506640
97MP0004811_abnormal_neuron_physiology0.68824912
98MP0005075_abnormal_melanosome_morpholog0.68511089
99MP0001286_abnormal_eye_development0.68226168
100MP0005174_abnormal_tail_pigmentation0.67690297

Predicted human phenotypes

RankGene SetZ-score
1Pancreatic fibrosis (HP:0100732)4.56754121
2Pancreatic cysts (HP:0001737)4.28282325
3Mitochondrial inheritance (HP:0001427)3.85848704
4Molar tooth sign on MRI (HP:0002419)3.85701453
5Abnormality of midbrain morphology (HP:0002418)3.85701453
6Acute necrotizing encephalopathy (HP:0006965)3.83706018
7Abnormality of the labia minora (HP:0012880)3.78606700
8Hepatocellular necrosis (HP:0001404)3.54837434
9Increased CSF lactate (HP:0002490)3.54068596
10Abnormal mitochondria in muscle tissue (HP:0008316)3.43660885
11Hepatic necrosis (HP:0002605)3.41200689
12True hermaphroditism (HP:0010459)3.30638076
13Septo-optic dysplasia (HP:0100842)3.23356637
14Acute encephalopathy (HP:0006846)3.20459741
15Abnormality of cells of the erythroid lineage (HP:0012130)3.14391395
16Nephronophthisis (HP:0000090)3.11589344
17Reticulocytopenia (HP:0001896)3.11088608
18Progressive macrocephaly (HP:0004481)3.10385623
19Absent rod-and cone-mediated responses on ERG (HP:0007688)3.07478311
20Increased hepatocellular lipid droplets (HP:0006565)3.07070955
21Lipid accumulation in hepatocytes (HP:0006561)3.03541283
22Sclerocornea (HP:0000647)2.99386285
23Congenital stationary night blindness (HP:0007642)2.91560377
24Abnormal rod and cone electroretinograms (HP:0008323)2.86907204
25Type II lissencephaly (HP:0007260)2.81844482
26Pachygyria (HP:0001302)2.80826315
27Polyphagia (HP:0002591)2.80345415
28Cystic liver disease (HP:0006706)2.75404146
29Hyperglycinemia (HP:0002154)2.73445282
30Increased intramyocellular lipid droplets (HP:0012240)2.63479217
31Stenosis of the external auditory canal (HP:0000402)2.60438667
32Medial flaring of the eyebrow (HP:0010747)2.55560132
33Rib fusion (HP:0000902)2.54802978
34Type 2 muscle fiber atrophy (HP:0003554)2.50800813
35Cerebral edema (HP:0002181)2.44978172
36Bile duct proliferation (HP:0001408)2.44470701
37Abnormal biliary tract physiology (HP:0012439)2.44470701
38Supernumerary spleens (HP:0009799)2.42727619
39Macrocytic anemia (HP:0001972)2.42138784
40Absent septum pellucidum (HP:0001331)2.41937128
41Abnormality of the renal medulla (HP:0100957)2.41900898
42Occipital encephalocele (HP:0002085)2.39280839
43Aplasia/Hypoplasia of the spleen (HP:0010451)2.35109626
44Renal Fanconi syndrome (HP:0001994)2.33090373
45Anencephaly (HP:0002323)2.32267283
46Increased serum lactate (HP:0002151)2.30732404
47Asplenia (HP:0001746)2.29961533
48Increased muscle lipid content (HP:0009058)2.27724324
49Postaxial foot polydactyly (HP:0001830)2.26867421
50Preaxial hand polydactyly (HP:0001177)2.26292286
51Lissencephaly (HP:0001339)2.24960474
52Myokymia (HP:0002411)2.24198288
53Agitation (HP:0000713)2.23292486
54Limb dystonia (HP:0002451)2.22205283
553-Methylglutaconic aciduria (HP:0003535)2.18432878
56Gait imbalance (HP:0002141)2.17988423
57Optic nerve hypoplasia (HP:0000609)2.17646263
58Muscle fiber atrophy (HP:0100295)2.15817429
59Abnormal number of erythroid precursors (HP:0012131)2.15051976
60Tubular atrophy (HP:0000092)2.14977519
61Thyroid-stimulating hormone excess (HP:0002925)2.14450406
62Optic disc pallor (HP:0000543)2.10617266
63Aplasia/Hypoplasia of the optic nerve (HP:0008058)2.07927362
64Exertional dyspnea (HP:0002875)2.06972425
65Cerebellar dysplasia (HP:0007033)2.06231202
66Abnormality of renal resorption (HP:0011038)2.05140190
67Aplasia/Hypoplasia of the tongue (HP:0010295)2.04212240
68Decreased activity of cytochrome C oxidase in muscle tissue (HP:0003688)1.99931659
69Deep palmar crease (HP:0006191)1.99586124
70Polydipsia (HP:0001959)1.99456273
71Abnormal drinking behavior (HP:0030082)1.99456273
72Hip dysplasia (HP:0001385)1.97565818
73Postaxial hand polydactyly (HP:0001162)1.96146108
74Dandy-Walker malformation (HP:0001305)1.96053471
75Severe muscular hypotonia (HP:0006829)1.95546998
76Congenital primary aphakia (HP:0007707)1.94268289
77Hypoplasia of the ulna (HP:0003022)1.94226813
78Pendular nystagmus (HP:0012043)1.93489711
79Congenital hepatic fibrosis (HP:0002612)1.93129795
80Abnormality of magnesium homeostasis (HP:0004921)1.92773871
81Abnormality of the diencephalon (HP:0010662)1.92243589
82Stomatitis (HP:0010280)1.90361422
83Abnormality of the renal cortex (HP:0011035)1.89984452
84Respiratory failure (HP:0002878)1.89322222
85Bony spicule pigmentary retinopathy (HP:0007737)1.87649771
86Aplasia/Hypoplasia of the tibia (HP:0005772)1.87434030
87Nephrogenic diabetes insipidus (HP:0009806)1.86937260
88Aplasia/Hypoplasia of the ulna (HP:0006495)1.86226369
89Male pseudohermaphroditism (HP:0000037)1.85646513
90Short tibia (HP:0005736)1.85462627
91Lactic acidosis (HP:0003128)1.85073357
92Pallor (HP:0000980)1.85023708
93Absent thumb (HP:0009777)1.83980886
94Abolished electroretinogram (ERG) (HP:0000550)1.83695939
95Abnormality of the septum pellucidum (HP:0007375)1.83266152
96Abnormality of urine glucose concentration (HP:0011016)1.83126145
97Glycosuria (HP:0003076)1.83126145
98Colon cancer (HP:0003003)1.80937375
99Iris coloboma (HP:0000612)1.80676004
100Broad-based gait (HP:0002136)1.80184134

Predicted kinase interactions (KEA)

RankGene SetZ-score
1WNK44.98738763
2STK393.49925959
3ADRBK22.66792760
4TAOK32.43559631
5MARK12.21467808
6CDK192.10721328
7LIMK12.10457389
8PIK3CA2.07576812
9DYRK22.06329170
10TYRO32.00940749
11WNK31.99690987
12BCKDK1.95114192
13GRK11.94940159
14MAPK131.85946437
15SIK21.81895735
16CASK1.67753286
17FRK1.66639307
18MUSK1.66007012
19NUAK11.53863682
20ZAK1.39774896
21TXK1.38114693
22MAP3K91.36538437
23PLK41.32172573
24NTRK21.31396127
25LRRK21.28391054
26VRK21.26693102
27STK161.26195214
28MINK11.26114594
29KDR1.25130499
30TRIM281.23683269
31MAP2K71.21389623
32PINK11.20176454
33TIE11.18938760
34TNIK1.17127280
35PRKCG1.13789641
36WNK11.10940757
37BMPR1B1.05540679
38MAP3K111.00880392
39OXSR10.99764972
40TESK20.98024118
41ADRBK10.91037141
42CSNK1G20.82946144
43PAK30.82283628
44PHKG20.81298049
45PHKG10.81298049
46NME10.80807318
47EIF2AK10.80394221
48PRKCQ0.77894555
49EPHA40.75843198
50INSRR0.75240434
51GRK50.74684297
52CAMKK10.74358311
53ARAF0.73662924
54NEK10.73359129
55PAK60.73298500
56CSNK1G30.71446364
57MAP3K40.70893862
58PRKCH0.66452085
59CAMK2A0.64517963
60CSNK1E0.64501200
61CSNK1G10.63475327
62ABL20.63437240
63PLK20.63325610
64DYRK1A0.62281587
65BRAF0.59497544
66PRKACA0.57584848
67MAP4K20.57532828
68BCR0.56872581
69PDK20.56036272
70MKNK20.56000571
71MAP3K120.55988009
72CAMK10.55395785
73CSNK1A10.54881078
74BTK0.54158935
75TEC0.52680661
76CSNK1A1L0.52069358
77RPS6KA20.51675203
78RPS6KA50.50674835
79PRKCZ0.50042925
80CSNK2A20.49727140
81SRPK10.49620301
82AURKA0.48282082
83ITK0.47184397
84CSNK2A10.46254803
85TLK10.46212618
86CDC70.45424841
87PLK10.43258734
88EPHB20.43180361
89EIF2AK30.42611365
90DYRK30.42552098
91SYK0.41189107
92OBSCN0.40634969
93PASK0.40235236
94PRKCA0.39592278
95PRKCE0.39509503
96CAMKK20.38547914
97ATR0.37887139
98MAPK150.37490598
99PRKG10.37472223
100CDK50.35548547

Predicted pathways (KEGG)

RankGene SetZ-score
1Ribosome_Homo sapiens_hsa030104.79078301
2Caffeine metabolism_Homo sapiens_hsa002324.39373169
3Oxidative phosphorylation_Homo sapiens_hsa001904.35053141
4Parkinsons disease_Homo sapiens_hsa050123.73729313
5Cardiac muscle contraction_Homo sapiens_hsa042603.17287682
6Huntingtons disease_Homo sapiens_hsa050162.67370580
7Alzheimers disease_Homo sapiens_hsa050102.54166387
8Synthesis and degradation of ketone bodies_Homo sapiens_hsa000722.49532300
9Terpenoid backbone biosynthesis_Homo sapiens_hsa009002.46640200
10Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049322.41379996
11Sulfur relay system_Homo sapiens_hsa041222.27447595
12Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001302.21431058
13Proteasome_Homo sapiens_hsa030502.10198253
14Phototransduction_Homo sapiens_hsa047441.88779443
15Nicotine addiction_Homo sapiens_hsa050331.88153501
16RNA polymerase_Homo sapiens_hsa030201.83208811
17Basal transcription factors_Homo sapiens_hsa030221.65355608
18Protein export_Homo sapiens_hsa030601.62641945
19Linoleic acid metabolism_Homo sapiens_hsa005911.58935848
20alpha-Linolenic acid metabolism_Homo sapiens_hsa005921.50686647
21Sulfur metabolism_Homo sapiens_hsa009201.34317951
22Tryptophan metabolism_Homo sapiens_hsa003801.33955640
23Neuroactive ligand-receptor interaction_Homo sapiens_hsa040801.27218336
24Butanoate metabolism_Homo sapiens_hsa006501.26922887
25Steroid biosynthesis_Homo sapiens_hsa001001.26618954
26Taurine and hypotaurine metabolism_Homo sapiens_hsa004301.17924951
27Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005331.15033584
28One carbon pool by folate_Homo sapiens_hsa006701.14244179
29RNA degradation_Homo sapiens_hsa030181.14043560
30Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005631.13700716
31Glycine, serine and threonine metabolism_Homo sapiens_hsa002601.13519650
32Propanoate metabolism_Homo sapiens_hsa006401.00152744
33Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030080.96789539
34Olfactory transduction_Homo sapiens_hsa047400.96658695
35Morphine addiction_Homo sapiens_hsa050320.91882294
36Peroxisome_Homo sapiens_hsa041460.91465108
37Primary immunodeficiency_Homo sapiens_hsa053400.91221421
38Collecting duct acid secretion_Homo sapiens_hsa049660.89140019
39Folate biosynthesis_Homo sapiens_hsa007900.86457339
40GABAergic synapse_Homo sapiens_hsa047270.85210024
41Ether lipid metabolism_Homo sapiens_hsa005650.82714647
42Axon guidance_Homo sapiens_hsa043600.82172111
43Chemical carcinogenesis_Homo sapiens_hsa052040.81881425
44Intestinal immune network for IgA production_Homo sapiens_hsa046720.81603493
45beta-Alanine metabolism_Homo sapiens_hsa004100.80526131
46Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008600.79904428
47Asthma_Homo sapiens_hsa053100.75413301
48Glutamatergic synapse_Homo sapiens_hsa047240.73125223
49Nitrogen metabolism_Homo sapiens_hsa009100.69931370
50Metabolic pathways_Homo sapiens_hsa011000.67564161
51Fanconi anemia pathway_Homo sapiens_hsa034600.67270062
52Hedgehog signaling pathway_Homo sapiens_hsa043400.66471855
53Vitamin B6 metabolism_Homo sapiens_hsa007500.65268699
54Retinol metabolism_Homo sapiens_hsa008300.64512750
55Ascorbate and aldarate metabolism_Homo sapiens_hsa000530.64457056
56Arachidonic acid metabolism_Homo sapiens_hsa005900.62351778
57Insulin secretion_Homo sapiens_hsa049110.61786465
58Retrograde endocannabinoid signaling_Homo sapiens_hsa047230.61607410
59Taste transduction_Homo sapiens_hsa047420.61393078
60Pyrimidine metabolism_Homo sapiens_hsa002400.59861765
61Steroid hormone biosynthesis_Homo sapiens_hsa001400.57611301
62Nucleotide excision repair_Homo sapiens_hsa034200.57075698
63Basal cell carcinoma_Homo sapiens_hsa052170.56400215
64Drug metabolism - cytochrome P450_Homo sapiens_hsa009820.55360841
65Serotonergic synapse_Homo sapiens_hsa047260.52394582
66Purine metabolism_Homo sapiens_hsa002300.52242735
67RNA transport_Homo sapiens_hsa030130.52178097
68Mismatch repair_Homo sapiens_hsa034300.52080923
69Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.50102969
70Fat digestion and absorption_Homo sapiens_hsa049750.46902536
71Synaptic vesicle cycle_Homo sapiens_hsa047210.46331547
72Homologous recombination_Homo sapiens_hsa034400.46172563
73Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.45952254
74Pyruvate metabolism_Homo sapiens_hsa006200.45254714
75Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006010.45250853
76Valine, leucine and isoleucine degradation_Homo sapiens_hsa002800.45125037
77SNARE interactions in vesicular transport_Homo sapiens_hsa041300.44820367
78T cell receptor signaling pathway_Homo sapiens_hsa046600.41979542
79Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009800.40795220
80Oxytocin signaling pathway_Homo sapiens_hsa049210.40588687
81Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa009700.40041439
82Allograft rejection_Homo sapiens_hsa053300.38261738
83Cocaine addiction_Homo sapiens_hsa050300.38089560
84Autoimmune thyroid disease_Homo sapiens_hsa053200.37702968
85Dopaminergic synapse_Homo sapiens_hsa047280.37678747
86Cholinergic synapse_Homo sapiens_hsa047250.36375430
87Fatty acid degradation_Homo sapiens_hsa000710.36156139
88Circadian entrainment_Homo sapiens_hsa047130.35632376
89Hippo signaling pathway_Homo sapiens_hsa043900.33059300
90Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.30653976
91Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.30133954
92Cysteine and methionine metabolism_Homo sapiens_hsa002700.27943305
93Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006300.27618643
94Cytosolic DNA-sensing pathway_Homo sapiens_hsa046230.27187883
95Drug metabolism - other enzymes_Homo sapiens_hsa009830.25841202
96Pentose and glucuronate interconversions_Homo sapiens_hsa000400.25440393
97Ras signaling pathway_Homo sapiens_hsa040140.24864604
98Tyrosine metabolism_Homo sapiens_hsa003500.23757553
99Arginine and proline metabolism_Homo sapiens_hsa003300.23141458
100Cytokine-cytokine receptor interaction_Homo sapiens_hsa040600.23111745

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