Fanconi anemia complementation group F

disease

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Also known as FANCFFanconi anaemia complementation group type FFanconi anemia complementation group type FFanconi anemia, complementation group FFanconi Anemia, complementation group type F

Summary

Fanconi anemia complementation group F (MONDO:0011325) is a disease caused by FANCF (GenCC Definitive), with 1 cohort gene.

At a glance

Causal gene: FANCF (GenCC Definitive)
Cohort genes: 1
ClinVar variants: 205

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	Fanconi anemia complementation group F
Mondo ID	MONDO:0011325
OMIM	603467
DOID	DOID:0111088
NCIT	C125707
UMLS	C3469526
MedGen	854016
GARD	0015355
Is cancer (heuristic)	no

Also known as: FANCF · Fanconi anaemia complementation group type F · Fanconi anemia complementation group F · Fanconi anemia complementation group type F · Fanconi anemia, complementation group F · Fanconi Anemia, complementation group type F

Data availability: 205 ClinVar variants · 4 GenCC gene-disease records · 1 cell line.

Disease family

Classification path: disease › human disease › disease by body system or component › hematologic disorder › anemia › congenital anemia › Fanconi anemia › Fanconi anemia complementation group F

Genetics & variants

GWAS landscape

No GWAS associations recorded — common-variant (GWAS) studies don’t cover this disease (typical for Mendelian / rare diseases). See the curated gene cohort and Mendelian overlap below.

Variant details and genetic-evidence tiers

ClinVar germline variants

205 retrieved; paginated sample, class counts are floors:

127 uncertain significance, 20 likely pathogenic, 17 conflicting classifications of pathogenicity, 12 pathogenic, 12 benign, 8 benign/likely benign, 7 pathogenic/likely pathogenic, 2 likely benign

ClinVar	Variant (HGVS)	Gene	Classification	Review
1075622	NM_022725.4(FANCF):c.24_25insA (p.Asp9fs)	FANCF	Pathogenic	criteria provided, multiple submitters, no conflicts
1169397	NM_022725.4(FANCF):c.438_451del (p.Leu146_Arg147insTer)	FANCF	Pathogenic	criteria provided, single submitter
1169400	NM_022725.4(FANCF):c.534del (p.Lys179fs)	FANCF	Pathogenic	no assertion criteria provided
1691096	NM_022725.4(FANCF):c.283_284del (p.Leu95fs)	FANCF	Pathogenic	no assertion criteria provided
2084424	NM_022725.4(FANCF):c.538del (p.Ala180fs)	FANCF	Pathogenic	criteria provided, multiple submitters, no conflicts
2641690	NM_022725.4(FANCF):c.388dup (p.Gln130fs)	FANCF	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
2675556	NM_022725.4(FANCF):c.133_136del (p.His45fs)	FANCF	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
2675559	NM_022725.4(FANCF):c.267_268del (p.Cys89_Asp90delinsTer)	FANCF	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
2675560	NM_022725.4(FANCF):c.658G>T (p.Glu220Ter)	FANCF	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
3340333	NM_022725.4(FANCF):c.698_699del (p.Gly233fs)	FANCF	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
408144	NM_022725.4(FANCF):c.2T>G (p.Met1Arg)	FANCF	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
6340	NM_022725.4(FANCF):c.230_252del (p.Val77fs)	FANCF	Pathogenic	criteria provided, multiple submitters, no conflicts
6342	NM_022725.4(FANCF):c.16C>T (p.Gln6Ter)	FANCF	Pathogenic	no assertion criteria provided
6343	NM_022725.4(FANCF):c.484_485del (p.Leu162fs)	FANCF	Pathogenic	criteria provided, multiple submitters, no conflicts
6344	NM_022725.4(FANCF):c.327C>G (p.Tyr109Ter)	FANCF	Pathogenic	no assertion criteria provided
806634	NM_022725.4(FANCF):c.604del (p.Phe201_Leu202insTer)	FANCF	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
929561	NM_022725.4(FANCF):c.84del (p.Ala29fs)	FANCF	Pathogenic	criteria provided, multiple submitters, no conflicts
929562	NM_022725.4(FANCF):c.219del (p.Arg74fs)	FANCF	Pathogenic	criteria provided, multiple submitters, no conflicts
929563	NM_022725.4(FANCF):c.496C>T (p.Gln166Ter)	FANCF	Pathogenic	criteria provided, single submitter
208581	NM_022725.4(FANCF):c.690del (p.Gly231fs)	FANCF	Likely pathogenic	criteria provided, multiple submitters, no conflicts
2675555	NM_022725.4(FANCF):c.898C>T (p.Gln300Ter)	FANCF	Likely pathogenic	criteria provided, single submitter
2675558	NM_022725.4(FANCF):c.202C>T (p.Gln68Ter)	FANCF	Likely pathogenic	criteria provided, single submitter
2675561	NM_022725.4(FANCF):c.792dup (p.Ser265Ter)	FANCF	Likely pathogenic	criteria provided, single submitter
2675562	NM_022725.4(FANCF):c.530_537del (p.Val177fs)	FANCF	Likely pathogenic	criteria provided, multiple submitters, no conflicts
2675563	NM_022725.4(FANCF):c.167del (p.Thr56fs)	FANCF	Likely pathogenic	criteria provided, single submitter
2675564	NM_022725.4(FANCF):c.434del (p.Met145fs)	FANCF	Likely pathogenic	criteria provided, single submitter
2675565	NM_022725.4(FANCF):c.736del (p.Glu246fs)	FANCF	Likely pathogenic	criteria provided, single submitter
3241584	NM_022725.4(FANCF):c.379G>T (p.Glu127Ter)	FANCF	Likely pathogenic	criteria provided, single submitter
3241585	NM_022725.4(FANCF):c.78G>A (p.Trp26Ter)	FANCF	Likely pathogenic	criteria provided, single submitter
3241586	NM_022725.4(FANCF):c.641dup (p.Leu214fs)	FANCF	Likely pathogenic	criteria provided, single submitter

Genes & proteins

Mendelian disease overlap and somatic drivers

GenCC: 5 · Orphanet: 1 · OMIM-shared: 0 · Dual-evidence (GWAS+Mendelian): 0

GenCC gene–disease validity (cohort genes)

the Disease column is the GenCC-asserted condition — a cohort gene’s strongest validity may be for a related predisposition syndrome.

Gene	Classification	Inheritance	Disease	Records
FANCF	Definitive	Autosomal recessive	Fanconi anemia complementation group F	5

Orphanet rare-disease linkage (cohort genes)

Gene	Orphanet ID	Rare disease
FANCF	Orphanet:84	Fanconi anemia

Cohort genes → proteins

1 cohort genes, 1 distinct canonical proteins.

Evidence partition

Subset	Genes
multi_evidence	1

Cohort genes (full)

Symbol	HGNC	Ensembl	UniProt	Name	Evidence
FANCF	HGNC:3587	ENSG00000183161	Q9NPI8	Fanconi anemia group F protein	gencc,clinvar

Cohort function summary

Lead sentence per gene, UniProt-curated.

Symbol	Protein name	Function (lead sentence)
FANCF	Fanconi anemia group F protein	DNA repair protein that may operate in a postreplication repair or a cell cycle checkpoint function.

Protein-family classification

Druggable: 0 · Difficult: 0 · Unknown: 1 · Druggable fraction: 0.0

Family distribution

Cohort families vs a genome-wide background (hypergeometric, BH-FDR; fold = observed/expected). Counts kept; sorted by enrichment, so the catch-all Other/Unknown bucket no longer leads.

Family	Genes	Fold	FDR
Other/Unknown	1	1.8×	0.558

Per-gene assignment

Symbol	Family	Druggable?	EC	InterPro (top 3)
FANCF	Other/Unknown	no		FANCF, FANCF_C_sf

Expression context

Cohort genes with no expression data: 0.

Breadth distribution (Bgee present_calls)

Bucket	Genes
narrow (1-5 tissues)	0
moderate (6-20)	0
broad (>20)	1
unknown	0

Top tissues across cohort

Tissue	Cohort genes
bronchial epithelial cell	1
endothelial cell	1
secondary oocyte	1

Per-gene tissue summary (top 30)

Symbol	Bgee breadth	FANTOM5 breadth	SCXA	Top tissues
FANCF	234	ubiquitous	yes	secondary oocyte, endothelial cell, bronchial epithelial cell

Protein interactions among cohort

Intra-cohort edges: 0.

Hub genes (top 10 by interactor count)

Symbol	Interactor count
FANCF	740

Structural data

PDB: 1 · AlphaFold-only: 0 · No structure: 0

Cohort genes with PDB structures (top 30)

Symbol	UniProt	PDB entries
FANCF	Q9NPI8	7

Function

Pathway analysis

Distinct Reactome pathways touched by cohort: 2. Enrichment computed across 1 evidence-associated genes (1 with Reactome annotation).

Pathways by enrichment

Over-representation of cohort genes vs the genome-wide background (hypergeometric test, Benjamini-Hochberg FDR; fold = observed/expected over 1 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.

Pathway	Cohort genes	Fold	FDR	Sample cohort genes
Fanconi Anemia Pathway	1	278.5×	0.007	FANCF
PKR-mediated signaling	1	141.0×	0.007	FANCF

GO biological processes by enrichment

GO term	Cohort genes	Fold	FDR	Sample cohort genes
interstrand cross-link repair	1	432.1×	0.005	FANCF
DNA damage response	1	53.5×	0.019	FANCF

Therapeutics

Drug target analysis

Approved (phase 4): 0 · Phase ≥3: 0 · Phased (≥1): 0 · Undrugged: 1

Druggability breadth: 1 of 1 evidence-associated genes (100%) have a ChEMBL target (buckets above are over the deeply-mined display cohort).

Top cohort targets by molecule count

Symbol	Molecules	Max phase
FANCF	0	0

Bioactivity and enzyme data

Enzyme cohort genes (≥1 EC): 0.

Cohort genes with ChEMBL bioactivity (full, sorted by assay count)

Symbol	Assays	Type breakdown
FANCF	7	Binding:7

Pharmacogenomics

Cohort genes with a PharmGKB record: 1; with CPIC/DPWG dosing guidelines: 0.

No cohort gene has a CPIC/DPWG genotype-guided dosing guideline (PharmGKB).

Chemical tractability of cohort targets

0 approved/phased compounds have measured bioactivity against a cohort gene (and aren’t yet in disease-level trials). This is a research / tractability signal, NOT a therapeutic recommendation — a bioactivity row often reflects off-target or screening binding (e.g. promiscuous kinase inhibitors against a cohort kinase), implying no disease mechanism.

Druggability pyramid

Cohort genes binned by druggability tier (high → low):

Tier	Definition	Genes	Symbols
A	Approved (phase 4 drug)	0
B	Phased (≥1) drug, not yet approved	0
C	Druggable family + PDB, no drug	0
D	Druggable family + AlphaFold only, no drug	0
E	Difficult family or no structure, no drug	1	FANCF

Undrugged target profiles

1 cohort genes are undrugged. Ranked by ‘starting-point quality’ (assay depth + drugged-partner adjacency).

Symbol	ChEMBL assays	Drugged partners (top 3)
FANCF	7	—

Clinical trials & evidence

Clinical trials

Clinical trials: 0.

Cohort genes: FANCF