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FANCI |
Gene Facts External Data Attribution
- HGNC Symbol
- FANCI (HGNC:25568) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
- HGNC Name
- FA complementation group I
- Gene type
- protein-coding gene
- Locus type
- gene with protein product
- Previous symbols
- KIAA1794
- Alias symbols
- FLJ10719
- %HI
- 23.8(Read more about the DECIPHER Haploinsufficiency Index)
- pLI
- 0(Read more about gnomAD pLI score)
- LOEUF
- 0.96(Read more about gnomAD LOEUF score)
- Cytoband
- 15q26.1
- Genomic Coordinates
-
GRCh37/hg19: chr15:89787210-89860490 NCBI Ensembl UCSC GRCh38/hg38: chr15:89243979-89317259 NCBI Ensembl UCSC - MANE Select Transcript
- NM_001113378.2 ENST00000310775.12 (Read more about MANE Select)
- Function
- Plays an essential role in the repair of DNA double-strand breaks by homologous recombination and in the repair of interstrand DNA cross-links (ICLs) by promoting FANCD2 monoubiquitination by FANCL and participating in recruitment to DNA repair sites. Required for maintenance of chromosomal stability. Specifically binds branched DNA: binds both single-stranded DNA (ssDNA) and double-stranded DNA (dsDNA). Participates in S phase and G2 phase checkpoint activation upon DNA damage. {ECO:0000269|Pub... (Source: Uniprot)
Dosage Sensitivity Summary (Gene)
Dosage ID:
ISCA-15690
ClinGen Curation ID:
CCID:007122
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_000015.9)
(NC_000015.10)
