AutismKB 2.0

Annotation Detail for SPTBN4


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:SPTBN4 ( KIAA1642,QV,SPNB4,SPTBN3 )
Gene Full Name: spectrin, beta, non-erythrocytic 4
Band: 19q13.13
Quick LinksEntrez ID:57731; OMIM: 606214; Uniprot ID:SPTN4_HUMAN; ENSEMBL ID: ENSG00000160460; HGNC ID: 14896
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
C006632 arsenic trioxide arsenic trioxide results in decreased expression of SPTBN4 mRNAdecreases expression 20458559
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000230 Adenocarcinoma arsenic trioxide 2.3811798837 19825857
MESH:D001778 Blood Coagulation Disorders arsenic trioxide 4.3016206674
MESH:D002051 Burkitt Lymphoma arsenic trioxide 5.0311589617
MESH:D006528 Carcinoma, Hepatocellular arsenic trioxide 1.9916217749 14691202 15553829 15073043 11135700
MESH:D002291 Carcinoma, Papillary arsenic trioxide 6.2919014326
MESH:D018288 Carcinoma, Small Cell arsenic trioxide 4.6912490120
MESH:D015179 Colorectal Neoplasms arsenic trioxide 1.8720501625
MESH:D023903 Coronary Restenosis arsenic trioxide 4.9712609071
MESH:D019465 Craniofacial Abnormalities arsenic trioxide 1.9010525206
MESH:D016757 Death, Sudden, Cardiac arsenic trioxide 4.7915213294
MESH:D004938 Esophageal Neoplasms arsenic trioxide 2.4012903497
MESH:D005234 Fatty Liver arsenic trioxide 3.9115073043
MESH:D005706 Gallbladder Neoplasms arsenic trioxide 5.0516904648
MESH:D007938 Leukemia arsenic trioxide 3.0515070760
MESH:D015459 Leukemia-Lymphoma, Adult T-Cell arsenic trioxide 4.4217077332 12560223
MESH:D007948 Leukemia, Monocytic, Acute arsenic trioxide 5.4016972261
MESH:D015464 Leukemia, Myelogenous, Chronic, BCR-ABL Positive arsenic trioxide 3.8314633726
MESH:D007951 Leukemia, Myeloid arsenic trioxide 4.3919077051
MESH:D015470 Leukemia, Myeloid, Acute arsenic trioxide 2.2016968895 19850784 20471514 16467208 17050201
MESH:D015473 Leukemia, Promyelocytic, Acute arsenic trioxide 3.5416966277 17712046 16891316 11468182 16823087 16331271 15213294 19642359 19075265 17217047 19225113 16112521 17869043 15336539 17649720 11161223 12679006 12018890 17107899 19035177 9834237 15622746 12712474 16330433 15748426
MESH:D015458 Leukemia, T-Cell arsenic trioxide 5.1416882451
MESH:D008113 Liver Neoplasms arsenic trioxide 2.4914682389
MESH:D008114 Liver Neoplasms, Experimental arsenic trioxide 3.0320377131
MESH:D008133 Long QT Syndrome arsenic trioxide 3.7815213294
MESH:D008175 Lung Neoplasms arsenic trioxide 1.8719825857 11798837
MESH:D009101 Multiple Myeloma arsenic trioxide 3.4819549372 19417148 14977855 15949261 11468182
MESH:D009182 Mycosis Fungoides arsenic trioxide 6.0918349030
MESH:D009190 Myelodysplastic Syndromes arsenic trioxide 3.4116105982 16882451
MESH:D009361 Neoplasm Invasiveness arsenic trioxide 4.7516624393
MESH:D009436 Neural Tube Defects arsenic trioxide 3.4410525206
MESH:D010051 Ovarian Neoplasms arsenic trioxide 2.5316624393 12452020 19769630
MESH:D010190 Pancreatic Neoplasms arsenic trioxide 2.6715580305
MESH:D010235 Paraganglioma arsenic trioxide 4.8619927285
MESH:D011471 Prostatic Neoplasms arsenic trioxide 3.1919131511
MESH:D012512 Sarcoma, Ewing's arsenic trioxide 4.7516646077
MESH:D013274 Stomach Neoplasms arsenic trioxide 1.8717007042
MESH:D013964 Thyroid Neoplasms arsenic trioxide 3.5119014326
MESH:D016171 Torsades de Pointes arsenic trioxide 5.0515213294
MESH:D001749 Urinary Bladder Neoplasms arsenic trioxide 2.6412845720 11780464 12973940 20435036
Pathway ID Pathway Name
REACT:18266 Axon guidance
Pharmacogenomics Knowledge Base Top
Drug Bank Top

Simple Query:


  (e.g. CHD8)

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