AutismKB 2.0

Annotation Detail for BCAM


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:BCAM ( AU,CD239,LU,MSK19 )
Gene Full Name: basal cell adhesion molecule (Lutheran blood group)
Band: 19q13.32
Quick LinksEntrez ID:4059; OMIM: 612773; Uniprot ID:BCAM_HUMAN; ENSEMBL ID: ENSG00000187244; HGNC ID: 6722
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
321N-linked (GlcNAc...) (Potential).
377N-linked (GlcNAc...) (Potential).
383N-linked (GlcNAc...) (Potential).
419N-linked (GlcNAc...) (Potential).
439N-linked (GlcNAc...).
596Phosphoserine; by GSK3.
598Phosphoserine; by CK2.
621Phosphoserine; by PKA.
Location(AA) Modifications Resource
No data
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_001013257
  • Location:chr19 50004177-50015449
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 50002995 50003441 446 960
TFAP2C MCF7GSE21234 50002813 50004143 1330 700
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 50012356 50012578 222 0
PHF8 293TGSE20725 50004151 50004604 453 0
hScc1 BcellGSE12603 50013618 50013997 379 0
Validated miRNA targets Top
Cis-Nats regulation 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