FAN1 |
- 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)