• 30
    Haplo
    Score
  • 0
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
BLM (HGNC:1058) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
BLM RecQ like helicase
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
No previous names found
Alias symbols
BS, RECQL3, RECQ2
%HI
37.81(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0(Read more about gnomAD pLI score)
LOEUF
0.75(Read more about gnomAD LOEUF score)
Cytoband
15q26.1
Genomic Coordinates
GRCh37/hg19: chr15:91260577-91359396 NCBI Ensembl UCSC
GRCh38/hg38: chr15:90717346-90816166 NCBI Ensembl UCSC
MANE Select Transcript
NM_000057.4 ENST00000355112.8 (Read more about MANE Select)
Function
ATP-dependent DNA helicase that unwinds single- and double- stranded DNA in a 3'-5' direction (PubMed:9388193, PubMed:24816114, PubMed:25901030). Participates in DNA replication and repair (PubMed:12019152, PubMed:21325134, PubMed:23509288, PubMed:34606619). Involved in 5'-end resection of DNA during double-strand break (DSB) repair: unwinds DNA and recruits DNA2 which mediates the cleavage of 5'-ssDNA (PubMed:21325134). Negatively regulates sister chromatid exchange (SCE) (PubMed:25901030). Sti... (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-24449
Curation Status:
Complete
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
Gene Associated with Autosomal Recessive Phenotype (30)
Triplosensitivity:
No Evidence for Triplosensitivity (0)
Last Evaluated:
02/09/2022

Haploinsufficiency (HI) Score Details

HI Score:
30
HI Evidence Strength:
Gene Associated with Autosomal Recessive Phenotype (Disclaimer)
HI Disease:
HI Evidence Comments:
Bloom syndrome is an autosomal recessive disorder characterized by chromosomal instability and increased cancer risk, caused by biallelic mutations in the gene BLM. BLM gene has a definitive gene-disease association with Bloom Syndrome (per ClinGen GDV group), the gene-disease association with other diseases is unclear now. Heterozygous deleterious mutations in the gene BLM may result in an increased risk for breast cancer and colon cancer. (PMIDs: 31614901,12242432,12702560, 28647934,26778106, 26358404)

Triplosensitivity (TS) Score Details

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

Genomic View

Select assembly: (NC_000015.9) (NC_000015.10)