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 categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
586
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
FANCF-related disorder Pathogenic; Likely pathogenic rs587778340, rs1858634789, rs1479457172 RCV004752688
RCV003412456
RCV004753158
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
RCV002258415
RCV002517907
RCV002880987
RCV002966515
RCV002994700
RCV000472440
RCV000820044
RCV003016325
RCV003048995
RCV003636016
RCV003636026
RCV003636027
RCV003523185
RCV003636521
RCV000462200
RCV003769334
RCV002271604
RCV001050876
RCV001382650
RCV001383708
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
RCV000190586
RCV004686755
RCV000006712
RCV000006714
RCV000006715
RCV000006716
RCV003459861
RCV003461482
RCV003461483
RCV003468149
RCV003461485
RCV003461486
RCV003468150
RCV003461487
RCV003461488
RCV003461489
RCV003468151
RCV004576565
RCV004576566
RCV004576567
RCV004576568
RCV004576569
RCV004576570
RCV004576571
RCV005049558
RCV001194788
RCV001194785
RCV001194787
RCV001194786
RCV001194784
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Hereditary cancer Conflicting classifications of pathogenicity rs145057187 RCV003492014
Hereditary cancer-predisposing syndrome Benign; Likely benign; Uncertain significance rs113910234, rs746409614, rs996275860 RCV005251074
RCV005859363
RCV005638646
Malignant tumor of breast Benign; Likely benign rs113910234 RCV001269490
Ovarian cancer Benign; Likely benign; Conflicting classifications of pathogenicity rs113910234, rs372625322, rs2133797874 RCV003153394
RCV003153540
RCV003154739
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Anemia Hemolytic Associate 11167740, 14617007, 16803569
Breast Diseases Associate 23440494
Breast Neoplasms Associate 17932744, 22952942, 23440494, 24345874
Carcinogenesis Associate 14617007
Carcinoma Non Small Cell Lung Associate 25828518
Carcinoma Squamous Cell Associate 29617660
Colorectal Neoplasms Associate 32915143
Fanconi Anemia Associate 11001585, 11750104, 12239156, 15256425, 16127171, 17082180, 19405097, 29973652, 31288759, 9382107
Fanconi Anemia Stimulate 23440494
Granulosa Cell Tumor Associate 15574200