AutismKB 2.0

Annotation Detail for EPB41L1


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Basic Information Top
Gene Symbol:EPB41L1 ( 4.1N,DKFZp686H17242,KIAA0338,MGC11072 )
Gene Full Name: erythrocyte membrane protein band 4.1-like 1
Band: 20q11.23
Quick LinksEntrez ID:2036; OMIM: 602879; Uniprot ID:E41L1_HUMAN; ENSEMBL ID: ENSG00000088367; HGNC ID: 3378
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
No data
Pathway IDPathway Name
hsa04530Tight junction
Pathway IDPathway Name
Synaptic Transmission
Pathway IDPathway Name
200183Trk receptor signaling mediated by PI3K and PLC-gamma
No data
Pathway IDPathway Name
500171Trafficking of AMPA receptors
Related Diseases/Disorders Top
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
D001564 Benzo(a)pyrene Benzo(a)pyrene results in decreased expression of EPB41L1 mRNAdecreases expression 20064835
D001564 Benzo(a)pyrene Benzo(a)pyrene results in increased expression of EPB41L1 mRNAincreases expression 20106945
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000230 Adenocarcinoma Benzo(a)pyrene 2.0820127859 20464547
MESH:D000236 Adenoma Benzo(a)pyrene 2.926695378
MESH:D017544 Aortic Aneurysm, Abdominal Benzo(a)pyrene 4.9819183758
MESH:D001943 Breast Neoplasms Benzo(a)pyrene 1.9817474063 20146248
MESH:D002294 Carcinoma, Squamous Cell Benzo(a)pyrene 2.1620419170
MESH:D004938 Esophageal Neoplasms Benzo(a)pyrene 2.1016530937
MESH:D006330 Heart Defects, Congenital Benzo(a)pyrene 2.8920471113
MESH:D008113 Liver Neoplasms Benzo(a)pyrene 2.1921137059 20195826
MESH:D008175 Lung Neoplasms Benzo(a)pyrene 1.5720064080 20464547 18520028 18816296 17053015 18569708 6695378 20869020 20135361
MESH:D009062 Mouth Neoplasms Benzo(a)pyrene 3.6216381670
MESH:D009369 Neoplasms Benzo(a)pyrene 2.3811141357
MESH:D011471 Prostatic Neoplasms Benzo(a)pyrene 2.8917292933
MESH:D012878 Skin Neoplasms Benzo(a)pyrene 2.5719755658 10029692
MESH:D013274 Stomach Neoplasms Benzo(a)pyrene 1.562093021 20155912
MESH:D001749 Urinary Bladder Neoplasms Benzo(a)pyrene 2.3317053015
Pathway ID Pathway Name
REACT:13685 Synaptic Transmission
KEGG:04530 Tight junction
Pharmacogenomics Knowledge Base Top
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