BCR
  • 0
    Haplo
    Score
  • 0
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
BCR (HGNC:1014) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
BCR activator of RhoGEF and GTPase
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
D22S11, BCR1
Alias symbols
D22S662, CML, PHL, ALL
%HI
5.65(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0(Read more about gnomAD pLI score)
LOEUF
0.61(Read more about gnomAD LOEUF score)
Cytoband
22q11.23
Genomic Coordinates
GRCh37/hg19: chr22:23522696-23660224 NCBI Ensembl UCSC
GRCh38/hg38: chr22:23180509-23318037 NCBI Ensembl UCSC
MANE Select Transcript
NM_004327.4 ENST00000305877.13 (Read more about MANE Select)
Function
Protein with a unique structure having two opposing regulatory activities toward small GTP-binding proteins. The C-terminus is a GTPase-activating protein (GAP) domain which stimulates GTP hydrolysis by RAC1, RAC2 and CDC42. Accelerates the intrinsic rate of GTP hydrolysis of RAC1 or CDC42, leading to down-regulation of the active GTP-bound form (PubMed:7479768, PubMed:1903516, PubMed:17116687). The central Dbl homology (DH) domain functions as guanine nucleotide exchange factor (GEF) that modul... (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-10776
ClinGen Curation ID:
CCID:006745
Curation Status:
Complete
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
No Evidence for Haploinsufficiency (0)
Read full report...
Triplosensitivity:
No Evidence for Triplosensitivity (0)
Read full report...
Last Evaluated:
07/10/2012

Haploinsufficiency (HI) Score Details

HI Score:
0
HI Evidence Strength:
No Evidence for Haploinsufficiency (Disclaimer)
HI Evidence Comments:
There have been deletions reported that include the BCR gene along with other genes (Mikhail et al., 2007; Madan et al., 2010). However, no deletions or mutations of only this gene have been reported at this time. A reciprocal translocation between chromosomes 22 and 9 produces the Philadelphia chromosome, which is often found in patients with chronic myelogenous leukemia. The chromosome 22 breakpoint for this translocation is located within the BCR gene. Chronic myelogenous leukemia is not an appropriate phenotype for our purposes.

Triplosensitivity (TS) Score Details

TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)

Genomic View

Select assembly: (NC_000022.10) (NC_000022.11)