Gene Facts External Data Attribution

HGNC Symbol
FANCM (HGNC:23168) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
FA complementation group M
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
KIAA1596
Alias symbols
FAAP250
%HI
44.79(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0(Read more about gnomAD pLI score)
LOEUF
0.59(Read more about gnomAD LOEUF score)
Cytoband
14q21.2
Genomic Coordinates
GRCh37/hg19: chr14:45605133-45670093 NCBI Ensembl UCSC
GRCh38/hg38: chr14:45135930-45200890 NCBI Ensembl UCSC
MANE Select Transcript
NM_020937.4 ENST00000267430.10 (Read more about MANE Select)
Function
DNA-dependent ATPase component of the Fanconi anemia (FA) core complex (PubMed:16116422). Required for the normal activation of the FA pathway, leading to monoubiquitination of the FANCI-FANCD2 complex in response to DNA damage, cellular resistance to DNA cross- linking drugs, and prevention of chromosomal breakage (PubMed:16116422, PubMed:19423727, PubMed:20347428, PubMed:20347429, PubMed:29231814). In complex with CENPS and CENPX, binds double-stranded DNA (dsDNA), fork- structured DNA (fsDNA)... (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-12770
Curation Status:
Under Group Review
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
Under Group Review
Triplosensitivity:
Under Group Review
Last Evaluated:
Under Group Review

Haploinsufficiency (HI) Score Details

Review not yet complete.

Triplosensitivity (TS) Score Details

Review not yet complete.

Genomic View

Select assembly: (NC_000014.8) (NC_000014.9)