Gene Facts External Data Attribution

HGNC Symbol
FANCC (HGNC:3584) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
FA complementation group C
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
FACC
Alias symbols
FAC, FA3
%HI
43.39(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0(Read more about gnomAD pLI score)
LOEUF
1.04(Read more about gnomAD LOEUF score)
Cytoband
9q22.32
Genomic Coordinates
GRCh37/hg19: chr9:97861336-98079991 NCBI Ensembl UCSC
GRCh38/hg38: chr9:95099054-95317709 NCBI Ensembl UCSC
MANE Select Transcript
NM_000136.3 ENST00000289081.8 (Read more about MANE Select)
Function
DNA repair protein that may operate in a postreplication repair or a cell cycle checkpoint function. May be implicated in interstrand DNA cross-link repair and in the maintenance of normal chromosome stability. Upon IFNG induction, may facilitate STAT1 activation by recruiting STAT1 to IFNGR1. {ECO:0000269|PubMed:11520787}. (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-4314
Curation Status:
Reopened
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
Reopened
Triplosensitivity:
Reopened
Last Evaluated:
Reopened

Haploinsufficiency (HI) Score Details

Review not yet complete.

Triplosensitivity (TS) Score Details

Review not yet complete.

Genomic View

Select assembly: (NC_000009.11) (NC_000009.12)