AutismKB 2.0

Annotation Detail for SCN8A


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Basic Information Top
Gene Symbol:SCN8A ( CERIII,MED,NaCh6,Nav1.6,PN4 )
Gene Full Name: sodium channel, voltage gated, type VIII, alpha subunit
Band: 12q13.13
Quick LinksEntrez ID:6334; OMIM: 600702; Uniprot ID:SCN8A_HUMAN; ENSEMBL ID: ENSG00000196876; HGNC ID: 10596
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
Related Diseases/Disorders Top
No data
Desease IDDesease Name
1982Myopathy
No data
No data
Desease Name
Cerebellar atrophy, ataxia, and mental retardation
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
D000643 Ammonium Chloride Ammonium Chloride affects the expression of SCN8A mRNAaffects expression 16483693
D004052 Diethylnitrosamine Diethylnitrosamine results in increased expression of SCN8A mRNAincreases expression 17942915
D004052 Diethylnitrosamine MET protein inhibits the reaction [Diethylnitrosamine results in increased expression of SCN8A mRNA]decreases reaction|increases expression 17942915
D005038 Ethylnitrosourea Ethylnitrosourea results in increased mutagenesis of SCN8A exonincreases mutagenesis 15170223
D019833 Genistein Genistein results in decreased expression of SCN8A mRNAdecreases expression 16705744
D012964 Sodium FGF13 protein promotes the reaction [SCN8A protein affects the transport of Sodium]affects transport|increases reaction 15282281
D012964 Sodium SCN8A protein affects the transport of Sodiumaffects transport 15282281
D012964 Sodium SCN8A protein results in increased transport of Sodiumincreases transport 16020462
D012964 Sodium Tetrodotoxin inhibits the reaction [SCN8A protein results in increased transport of Sodium]decreases reaction|increases transport 16020462
D013779 Tetrodotoxin Tetrodotoxin inhibits the reaction [SCN8A protein results in increased transport of Sodium]decreases reaction|increases transport 16020462
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000138 Acidosis Ammonium Chloride 4.0218287403
MESH:D000230 Adenocarcinoma Genistein 2.5411473722
MESH:D000236 Adenoma Diethylnitrosamine 7.5810737359 6695378
MESH:D000236 Adenoma Ethylnitrosourea 7.586695378
MESH:D018248 Adenoma, Liver Cell Diethylnitrosamine 4.3617162532 16434500 17620307 19061943 18056438 19052882
MESH:D001927 Brain Diseases Ethylnitrosourea 5.1914991843
MESH:D001932 Brain Neoplasms Ethylnitrosourea 4.5915144691 16651633 16436596 18412241 16357521
MESH:D001943 Breast Neoplasms Diethylnitrosamine 2.2417474063
MESH:D001943 Breast Neoplasms Genistein 2.2416873071 17200150 16541309
MESH:D006528 Carcinoma, Hepatocellular Diethylnitrosamine 3.2519539802 19822196 19701751 20727157 16288022 17428255 17761372 19208518 16878318 16328049 20514400 19383236 19171122 19107877 17978847 20084675 17138121 18665156 19335982 16569478 19919837 16502159 18506893 19394651 20007298 16807293 18210153 10737359 17173139 19418558 3581430 20935162 18788625 20512989 3084413 10672840 18393292 17055752 19052882 21159647 18971187 16779866 11831363 16830150 20214788 18494052 20432363 16698587 18056438 20524982 16681979 18691550 18978308 17162532 19519916 20101231 18785209 16540662 16935385
MESH:D006528 Carcinoma, Hepatocellular Genistein 3.2516924424
MESH:D002318 Cardiovascular Diseases Genistein 3.5116332659
MESH:D002471 Cell Transformation, Neoplastic Diethylnitrosamine 7.752727394 7505956 21159647 17174075
MESH:D002471 Cell Transformation, Neoplastic Ethylnitrosourea 7.7516003739
MESH:D016543 Central Nervous System Neoplasms Ethylnitrosourea 6.5017160924
MESH:D002524 Cerebellar Ataxia marker/mechanism
MESH:D018281 Cholangiocarcinoma Diethylnitrosamine 3.9719052882
MESH:D003110 Colonic Neoplasms Genistein 2.3317182828
MESH:D003924 Diabetes Mellitus, Type 2 Diethylnitrosamine 4.7320387270
MESH:D003924 Diabetes Mellitus, Type 2 Genistein 4.7316647724
MESH:D056486 Drug-Induced Liver Injury Diethylnitrosamine 2.1219107877
MESH:D004476 Ectodermal Dysplasia Ethylnitrosourea 6.5018357618
MESH:D004714 Endometrial Hyperplasia Genistein 5.0516402032
MESH:D016889 Endometrial Neoplasms Genistein 3.5511473722
MESH:D004931 Esophageal Achalasia Diethylnitrosamine 5.6416302075
MESH:D005234 Fatty Liver Diethylnitrosamine 3.5120387270 21071580
MESH:D005909 Glioblastoma Ethylnitrosourea 8.1616436596
MESH:D005909 Glioblastoma Genistein 8.1616598420
MESH:D005910 Glioma Ethylnitrosourea 3.5916651633 16357521 18412241
MESH:D007249 Inflammation Diethylnitrosamine 2.5218785209
MESH:D007680 Kidney Neoplasms Ethylnitrosourea 4.2017379185
MESH:D007938 Leukemia Genistein 3.1617468513 18980019
MESH:D008103 Liver Cirrhosis Diethylnitrosamine 2.9818407596 18665156 18522880 20032147 19638242
MESH:D008106 Liver Cirrhosis, Experimental Genistein 2.0617823541
MESH:D008107 Liver Diseases Diethylnitrosamine 2.1617034775
MESH:D008113 Liver Neoplasms Diethylnitrosamine 2.3316942905 19996281 20137499 20118626 19499222 9163691 19833225 19642983 12112319 20434301 12771043 19850985 21278145 20583210 19638242 19294768 19812893 19256749 19690152 15175105 18644402 18648771 19427195 19255062 20452335 19551842 18754104 21071580 21047994 19073162 19426721 19090486 2422723 20101389 21167192 10737359 20492335 18977376 15885732 20405173 19254457 2862719 20501860 18978307
MESH:D008114 Liver Neoplasms, Experimental Diethylnitrosamine 2.8119539802 17942915 16267830 21159647 18093689 17174075 18079962 17854601 18544905 19519916 18775883 18282651 19009564 2563599 3124819 9362446 19126423 18253720 16842330 18308698 19004024 18164116
MESH:D008175 Lung Neoplasms Diethylnitrosamine 2.8420512841 20970405 6695378 21163286
MESH:D008175 Lung Neoplasms Ethylnitrosourea 2.8416019985 6695378 16271038 17703301
MESH:D008223 Lymphoma Ethylnitrosourea 4.1615790496
MESH:D016399 Lymphoma, T-Cell Ethylnitrosourea 5.4715375218
MESH:D008325 Mammary Neoplasms, Experimental Ethylnitrosourea 7.0718041768 10767621 10838139
MESH:D008325 Mammary Neoplasms, Experimental Genistein 7.0714578162 12929590
MESH:D008579 Meningioma Ethylnitrosourea 6.5017943659
MESH:D008607 Mental Retardation marker/mechanism
MESH:D009203 Myocardial Infarction Genistein 2.9617141266
MESH:D015428 Myocardial Reperfusion Injury Genistein 3.9017141266
MESH:D009362 Neoplasm Metastasis Diethylnitrosamine 2.673581430 9029167
MESH:D009374 Neoplasms, Experimental Ethylnitrosourea 4.8216707424
MESH:D009422 Nervous System Diseases marker/mechanism 15170223
MESH:D009421 Nervous System Malformations Genistein 4.4116427766
MESH:D009442 Neurilemmoma Ethylnitrosourea 5.8816651423 16003739 17160924
MESH:D019636 Neurodegenerative Diseases Diethylnitrosamine 3.6120387270
MESH:D009461 Neurologic Manifestations Diethylnitrosamine 5.6420387270
MESH:D009837 Oligodendroglioma Ethylnitrosourea 6.5017160924
MESH:D010024 Osteoporosis Genistein 3.4319401787
MESH:D015663 Osteoporosis, Postmenopausal Genistein 4.4416169203
MESH:D010051 Ovarian Neoplasms Genistein 2.6719005980
MESH:D010190 Pancreatic Neoplasms Diethylnitrosamine 2.5116540662
MESH:D011230 Precancerous Conditions Diethylnitrosamine 3.842563599
MESH:D011471 Prostatic Neoplasms Genistein 3.4116925846 15256057 15378649
MESH:D013274 Stomach Neoplasms Diethylnitrosamine 1.7618456281
MESH:D013953 Thymus Neoplasms Ethylnitrosourea 5.6215790496
MESH:D013964 Thyroid Neoplasms Diethylnitrosamine 3.227505956
Pathway ID Pathway Name
REACT:18266 Axon guidance
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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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