Gene: FANCI

Alternate names for this Gene: KIAA1794

Gene Summary: The Fanconi anemia complementation group (FANC) currently includes FANCA, FANCB, FANCC, FANCD1 (also called BRCA2), FANCD2, FANCE, FANCF, FANCG, FANCI, FANCJ (also called BRIP1), FANCL, FANCM and FANCN (also called PALB2). The previously defined group FANCH is the same as FANCA. Fanconi anemia is a genetically heterogeneous recessive disorder characterized by cytogenetic instability, hypersensitivity to DNA crosslinking agents, increased chromosomal breakage, and defective DNA repair. The members of the Fanconi anemia complementation group do not share sequence similarity; they are related by their assembly into a common nuclear protein complex. This gene encodes the protein for complementation group I. Alternative splicing results in two transcript variants encoding different isoforms.

Gene is located in Chromosome: 15

Location in Chromosome : 15q26.1

Description of this Gene: FA complementation group I

Type of Gene: protein-coding

rs140404896 in FANCI gene and FANCONI ANEMIA, COMPLEMENTATION GROUP I PMID 22720145 2012 Diagnosis of fanconi anemia: mutation analysis by next-generation sequencing.

PMID 26590883 2016 Novel FANCI mutations in Fanconi anemia with VACTERL association.

PMID 24989076 2015 Finnish Fanconi anemia mutations and hereditary predisposition to breast and prostate cancer.

PMID 21324748 2011 First systematic experience of preimplantation genetic diagnosis for de-novo mutations.

PMID 17924555 2008 Genetic subtyping of Fanconi anemia by comprehensive mutation screening.

PMID 17460694 2007 FANCI is a second monoubiquitinated member of the Fanconi anemia pathway.

PMID 17452773 2007 Identification of the Fanconi anemia complementation group I gene, FANCI.

rs375656231 in FANCI gene and Fanconi Anemia PMID 26296701 2015 Exome sequencing reveals frequent deleterious germline variants in cancer susceptibility genes in women with invasive breast cancer undergoing neoadjuvant chemotherapy.

rs62020347 in FANCI gene and Malignant neoplasm of breast PMID 23555315 2013 Genome-wide testing of putative functional exonic variants in relationship with breast and prostate cancer risk in a multiethnic population.