AutismKB 2.0

Annotation Detail for GJA8


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Basic Information Top
Gene Symbol:GJA8 ( CAE,CAE1,CX50,CZP1,MP70 )
Gene Full Name: gap junction protein, alpha 8, 50kDa
Band: 1q21.2
Quick LinksEntrez ID:2703; OMIM: 600897; Uniprot ID:CXA8_HUMAN; ENSEMBL ID: ENSG00000121634; HGNC ID: 4281
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
No data
No data
Pathway IDPathway Name
Membrane Trafficking
No data
No data
No data
Related Diseases/Disorders Top
No data
Desease IDDesease Name
1870Drug abuse
2069Schizophrenia
Desease Name
PSYCH
schizophrenia
No data
Desease Name
Cataract, nuclear pulverulent
Cataract, zonular pulverulent-1
Cataract, nuclear progressive
Cataract-microcornea syndrome
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
C006632 arsenic trioxide arsenic trioxide results in increased expression of GJA8 mRNAincreases expression 20458559
D005038 Ethylnitrosourea Ethylnitrosourea results in increased mutagenesis of GJA8 geneincreases mutagenesis 16724327
D009151 Mustard Gas Mustard Gas results in increased expression of GJA8 mRNAincreases expression 15674843
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000230 Adenocarcinoma arsenic trioxide 2.3611798837 19825857
MESH:D000236 Adenoma Ethylnitrosourea 3.946695378
MESH:D001249 Asthma Mustard Gas 2.8110378619
MESH:D001768 Blister Mustard Gas 5.9019167455
MESH:D001778 Blood Coagulation Disorders arsenic trioxide 4.1516206674
MESH:D001927 Brain Diseases Ethylnitrosourea 5.3314991843
MESH:D001932 Brain Neoplasms Ethylnitrosourea 4.7416651633 16436596 18412241 16357521 15144691
MESH:D001989 Bronchiolitis Obliterans Mustard Gas 5.9015286001
MESH:D029481 Bronchitis, Chronic Mustard Gas 5.8417687719 10378619
MESH:D002051 Burkitt Lymphoma arsenic trioxide 4.8611589617
MESH:D006528 Carcinoma, Hepatocellular arsenic trioxide 1.9815073043 16217749 15553829 14691202 11135700
MESH:D002291 Carcinoma, Papillary arsenic trioxide 5.7419014326
MESH:D018288 Carcinoma, Small Cell arsenic trioxide 4.5712490120
MESH:D002386 Cataract marker/mechanism
MESH:C538287 Cataract microcornea syndrome marker/mechanism
OMIM:116200 CATARACT, ZONULAR PULVERULENT 1 marker/mechanism
MESH:D002471 Cell Transformation, Neoplastic Ethylnitrosourea 4.0116003739
MESH:D016543 Central Nervous System Neoplasms Ethylnitrosourea 6.8517160924
MESH:D015179 Colorectal Neoplasms arsenic trioxide 1.8720501625
MESH:D023903 Coronary Restenosis arsenic trioxide 4.7712609071
MESH:D019465 Craniofacial Abnormalities arsenic trioxide 1.8910525206
MESH:D016757 Death, Sudden, Cardiac arsenic trioxide 4.6315213294
MESH:D004476 Ectodermal Dysplasia Ethylnitrosourea 6.8518357618
MESH:D004487 Edema Mustard Gas 3.7811428631 9260866 11402378 11428647
MESH:D004890 Erythema Mustard Gas 5.909357497
MESH:D004938 Esophageal Neoplasms arsenic trioxide 2.3912903497
MESH:D005234 Fatty Liver arsenic trioxide 3.7715073043
MESH:D005706 Gallbladder Neoplasms arsenic trioxide 4.8516904648
MESH:D005909 Glioblastoma Ethylnitrosourea 4.1016436596
MESH:D005910 Glioma Ethylnitrosourea 3.6316357521 16651633 18412241
MESH:D007249 Inflammation Mustard Gas 2.9811428631 11402378 9357497 11428620 8975870 16001271 17524151 11428647 9260866
MESH:D007680 Kidney Neoplasms Ethylnitrosourea 4.3217379185
MESH:D007938 Leukemia arsenic trioxide 3.0115070760
MESH:D015459 Leukemia-Lymphoma, Adult T-Cell arsenic trioxide 4.2817077332 12560223
MESH:D007948 Leukemia, Monocytic, Acute arsenic trioxide 5.0516972261
MESH:D015464 Leukemia, Myelogenous, Chronic, BCR-ABL Positive arsenic trioxide 3.7514633726
MESH:D007951 Leukemia, Myeloid arsenic trioxide 4.2419077051
MESH:D015470 Leukemia, Myeloid, Acute arsenic trioxide 2.1916467208 20471514 16968895 19850784 17050201
MESH:D015473 Leukemia, Promyelocytic, Acute arsenic trioxide 3.4817107899 17869043 12712474 15336539 17712046 15622746 12018890 11161223 19642359 15748426 17649720 16331271 16823087 16966277 19035177 17217047 11468182 16330433 19075265 19225113 9834237 12679006 15213294 16891316 16112521
MESH:D015458 Leukemia, T-Cell arsenic trioxide 4.9416882451
MESH:D008113 Liver Neoplasms arsenic trioxide 2.4714682389
MESH:D008114 Liver Neoplasms, Experimental arsenic trioxide 2.9820377131
MESH:D008133 Long QT Syndrome arsenic trioxide 3.6915213294
MESH:D008171 Lung Diseases Mustard Gas 3.7318702808 18161513
MESH:D008175 Lung Neoplasms arsenic trioxide 3.8319825857 11798837
MESH:D008175 Lung Neoplasms Ethylnitrosourea 3.8316271038 17703301 16019985 6695378
MESH:D008175 Lung Neoplasms Mustard Gas 3.833148597 8781369
MESH:D008223 Lymphoma Ethylnitrosourea 4.2515790496
MESH:D016399 Lymphoma, T-Cell Ethylnitrosourea 5.7015375218
MESH:D008325 Mammary Neoplasms, Experimental Ethylnitrosourea 3.7710838139 10767621 18041768
MESH:D008579 Meningioma Ethylnitrosourea 6.8517943659
MESH:D009101 Multiple Myeloma arsenic trioxide 3.4119417148 14977855 19549372 11468182 15949261
MESH:D009182 Mycosis Fungoides arsenic trioxide 5.5418349030
MESH:D009190 Myelodysplastic Syndromes arsenic trioxide 3.3616105982 16882451
MESH:D009361 Neoplasm Invasiveness arsenic trioxide 4.5416624393
MESH:D009374 Neoplasms, Experimental Ethylnitrosourea 5.0516707424
MESH:D009436 Neural Tube Defects arsenic trioxide 3.3810525206
MESH:D009442 Neurilemmoma Ethylnitrosourea 6.1616651423 16003739 17160924
MESH:D009503 Neutropenia Mustard Gas 4.5016761898 7688884
MESH:D009837 Oligodendroglioma Ethylnitrosourea 6.8517160924
MESH:D010051 Ovarian Neoplasms arsenic trioxide 2.5119769630 12452020 16624393
MESH:D010190 Pancreatic Neoplasms arsenic trioxide 2.6415580305
MESH:D010235 Paraganglioma arsenic trioxide 4.6919927285
MESH:D011041 Poisoning Mustard Gas 4.3215727166
MESH:D011471 Prostatic Neoplasms arsenic trioxide 3.2019131511
MESH:D011537 Pruritus Mustard Gas 4.8318058305
MESH:D011658 Pulmonary Fibrosis Mustard Gas 3.0617720292 17894541 10334151 17266442 17620002
MESH:D012512 Sarcoma, Ewing's arsenic trioxide 4.5416646077
MESH:D012871 Skin Diseases Mustard Gas 2.8012880345 16961503 15451306
MESH:D013274 Stomach Neoplasms arsenic trioxide 1.8617007042
MESH:D013953 Thymus Neoplasms Ethylnitrosourea 5.9015790496
MESH:D013964 Thyroid Neoplasms arsenic trioxide 3.4319014326
MESH:D016171 Torsades de Pointes arsenic trioxide 4.7015213294
MESH:D001749 Urinary Bladder Neoplasms arsenic trioxide 2.6120435036 12845720 11780464 12973940
Pathway ID Pathway Name
REACT:11123 Membrane Trafficking
Pharmacogenomics Knowledge Base Top
  • PharmGKB Accession:PA28692
    • No data
    Releated disease ID Related disease Name
    PA447216Schizophrenia
    PA443645Cataract
    No data
    Drug Bank Top

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    Syndromic Genes

    Non-syndromic Genes

    AutismKB Statistics

    • Studies: 1,036
    • Genes: 1,379
    • CNVs/SVs: 5,420
    • SNVs/Indels: 11,669
    • de novo Mutations: 5,669
    • Mosaics: 789
    • Linkage Regions: 172
    • Paper Collected: 6/30/2018
    • Last Update: 8/26/2018


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