• 30
    Haplo
    Score
  • 0
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
FAN1 (HGNC:29170) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
FANCD2 and FANCI associated nuclease 1
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
KIAA1018, MTMR15
Alias symbols
No aliases found
%HI
86.96(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0(Read more about gnomAD pLI score)
LOEUF
1.12(Read more about gnomAD LOEUF score)
Cytoband
15q13.3
Genomic Coordinates
GRCh37/hg19: chr15:31196055-31235311 NCBI Ensembl UCSC
GRCh38/hg38: chr15:30903852-30943108 NCBI Ensembl UCSC
MANE Select Transcript
NM_014967.5 ENST00000362065.9 (Read more about MANE Select)
Function
Nuclease required for the repair of DNA interstrand cross- links (ICL) recruited at sites of DNA damage by monoubiquitinated FANCD2. Specifically involved in repair of ICL-induced DNA breaks by being required for efficient homologous recombination, probably in the resolution of homologous recombination intermediates (PubMed:20603015, PubMed:20603016, PubMed:20603073, PubMed:20671156, PubMed:24981866, PubMed:25430771). Not involved in DNA double-strand breaks resection (PubMed:20603015, PubMed:20... (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-21415
Curation Status:
Complete
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
Gene Associated with Autosomal Recessive Phenotype (30)
Triplosensitivity:
No Evidence for Triplosensitivity (0)
Last Evaluated:
08/22/2016

Haploinsufficiency (HI) Score Details

HI Score:
30
HI Evidence Strength:
Gene Associated with Autosomal Recessive Phenotype (Disclaimer)
HI Disease:
  • karyomegalic interstitial nephritis Monarch

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)