Gene Gene information from NCBI Gene database.
Entrez ID 2188
Gene name FA complementation group F
Gene symbol FANCF
Synonyms (NCBI Gene)
FAF
Chromosome 11
Chromosome location 11p14.3
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 FAN
SNPs SNP information provided by dbSNP.
7
SNP ID Visualize variation Clinical significance Consequence
rs104894222 G>A,C Pathogenic Stop gained, coding sequence variant, synonymous variant
rs587778340 AG>- Pathogenic, not-provided Coding sequence variant, frameshift variant
rs730880277 AGTTCGCTAATCCCGGAACTGGA>- Pathogenic Coding sequence variant, frameshift variant
rs730880278 CTCTCTTGGAGTGTCTCCTCATCGGCGTCCCGGACGCCCGGGCCGGG>- Pathogenic Coding sequence variant, frameshift variant
rs747622521 A>- Likely-pathogenic Frameshift variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
353
miRTarBase ID miRNA Experiments Reference
MIRT672169 hsa-miR-4755-3p HITS-CLIP 23824327
MIRT672170 hsa-miR-4284 HITS-CLIP 23824327
MIRT672168 hsa-miR-24-3p HITS-CLIP 23824327
MIRT672167 hsa-miR-2052 HITS-CLIP 23824327
MIRT672166 hsa-miR-19a-5p HITS-CLIP 23824327
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
15
GO ID Ontology Definition Evidence Reference
GO:0000785 Component Chromatin IDA 22343915
GO:0005515 Function Protein binding IPI 11063725, 12649160, 32296183, 32814053
GO:0005634 Component Nucleus IEA
GO:0005654 Component Nucleoplasm IDA
GO:0005654 Component Nucleoplasm TAS
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
613897 3587 ENSG00000183161
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9NPI8
Protein name Fanconi anemia group F protein (Protein FACF)
Protein 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 (By similarity).
PDB 2IQC , 7KZP , 7KZQ , 7KZR , 7KZS , 7KZT , 7KZV
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF11107 FANCF 1 354 Fanconi anemia group F protein (FANCF) Family
Sequence
Sequence length 374
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Fanconi anemia pathway   Fanconi Anemia Pathway
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
9
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
FANCF-related disorder Pathogenic; Likely pathogenic rs587778340, rs1858634789, rs1479457172 RCV004752688
RCV003412456
RCV004753158
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Fanconi anemia Pathogenic; Likely pathogenic rs2133798885, rs2133797345, rs2133798927, rs2133798073, rs1046564488, rs747622521, rs2494871663, rs2494869728, rs2494866075, rs730880277, rs587778340, rs2494871401, rs2133797511, rs2494867744, rs2494870839
View all (9 more)
RCV001389253
RCV001615378
RCV001970176
RCV001982108
RCV002255797
View all (20 more)
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Fanconi anemia complementation group F Likely pathogenic; Pathogenic rs754014970, rs2133798885, rs778546226, rs2133797515, rs2133798188, rs747622521, rs2494866075, rs730880277, rs104894221, rs587778340, rs104894222, rs2494867744, rs2494861863, rs2494870839, rs762741561
View all (20 more)
RCV005046692
RCV003469754
RCV001520573
RCV001520576
RCV002254006
View all (30 more)
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
FANCONI ANEMIA, COMPLEMENTATION GROUP F CTD, Disgenet, HPO
CTD, Disgenet, HPO
CTD, Disgenet, HPO
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Hereditary cancer Conflicting classifications of pathogenicity ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Hereditary cancer-predisposing syndrome Benign; Likely benign; Uncertain significance ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Malignant tumor of breast Benign; Likely benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Acute monocytic leukemia Monocytic Leukemia GENOMICS_ENGLAND_DG 28297620
★☆☆☆☆
Found in Text Mining only
Anemia Hemolytic Hemolytic anemia Pubtator 11167740, 14617007, 16803569 Associate
★☆☆☆☆
Found in Text Mining only
Anus, Imperforate Imperforate anus HPO_DG
★☆☆☆☆
Found in Text Mining only
Astigmatism Astigmatism HPO_DG
★☆☆☆☆
Found in Text Mining only
Atrial Fibrillation Atrial Fibrillation BEFREE 12821245
★☆☆☆☆
Found in Text Mining only
Atrial Septal Defects Atrial Septal Defect HPO_DG
★☆☆☆☆
Found in Text Mining only
Azoospermia Azoospermia HPO_DG
★☆☆☆☆
Found in Text Mining only
Bladder Neoplasm Bladder Neoplasm BEFREE 18000367
★☆☆☆☆
Found in Text Mining only
Blepharoptosis Ptosis HPO_DG
★☆☆☆☆
Found in Text Mining only
Bloom Syndrome Bloom Syndrome BEFREE 20064461
★☆☆☆☆
Found in Text Mining only