AutismKB 2.0

Annotation Detail for SPTBN5


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Basic Information Top
Gene Symbol:SPTBN5 ( BSPECV,HUBSPECV,HUSPECV )
Gene Full Name: spectrin, beta, non-erythrocytic 5
Band: 15q21
Quick LinksEntrez ID:51332; OMIM: 605916; Uniprot ID:SPTN5_HUMAN; ENSEMBL ID: ENSG00000137877; HGNC ID: 15680
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
Related Diseases/Disorders Top
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
C023514 2,6-dinitrotoluene 2,6-dinitrotoluene affects the expression of SPTBN5 mRNAaffects expression 21346803
D014810 Vitamin E Vitamin E results in decreased expression of SPTBN5 mRNAdecreases expression 19244175
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D002252 Carbon Tetrachloride Poisoning Vitamin E 4.6916050911
MESH:D006528 Carcinoma, Hepatocellular 2,6-dinitrotoluene 1.7916705839
MESH:D002471 Cell Transformation, Neoplastic 2,6-dinitrotoluene 3.096135515
MESH:D019465 Craniofacial Abnormalities Vitamin E 1.9319769572
MESH:D003490 Cyanosis 2,6-dinitrotoluene 4.7818551238
MESH:D056486 Drug-Induced Liver Injury 2,6-dinitrotoluene 2.0718551238 21346803
MESH:C538011 Eales disease Vitamin E 5.779068938
MESH:D006330 Heart Defects, Congenital Vitamin E 3.2016080930
MESH:D006548 Hernia, Diaphragmatic Vitamin E 2.8316863852 16490937
MESH:D019584 Hot Flashes Vitamin E 5.0414716179
MESH:D007251 Influenza, Human Vitamin E 5.2816624496
MESH:D007674 Kidney Diseases Vitamin E 3.0512488133
MESH:D007680 Kidney Neoplasms 2,6-dinitrotoluene 3.4116705839
MESH:D008106 Liver Cirrhosis, Experimental Vitamin E 1.9116169303
MESH:D008113 Liver Neoplasms 2,6-dinitrotoluene 2.297678174
MESH:D008114 Liver Neoplasms, Experimental 2,6-dinitrotoluene 2.826135515 2876784 2876786
MESH:D008171 Lung Diseases Vitamin E 3.4816863852
MESH:D008175 Lung Neoplasms Vitamin E 1.9011062179
MESH:D009336 Necrosis 2,6-dinitrotoluene 4.757678174 18551238
MESH:D009784 Occupational Diseases 2,6-dinitrotoluene 3.9416049721
MESH:D011471 Prostatic Neoplasms Vitamin E 3.2315084515
MESH:D012640 Seizures 2,6-dinitrotoluene 2.8518551238
MESH:D012871 Skin Diseases Vitamin E 2.5318709164
MESH:D020521 Stroke Vitamin E 3.9316517955
MESH:D001749 Urinary Bladder Neoplasms 2,6-dinitrotoluene 2.4316049721
MESH:D014571 Urologic Neoplasms 2,6-dinitrotoluene 5.2010091137
Pathway ID Pathway Name
REACT:18266 Axon guidance
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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