Information on FANCF
Alt. symbols: FAF
Approved name: FA complementation group F
Alt. names: Fanconi anemia complementation group F
Location: 11p14.3: 22622533 - 22625823 (-)
Gene type: protein_coding, 1 transcripts.
Scores: LoFtool: | pLI: 0.00381453 | LOEUF: 1.525
Gene Ontology (GO)
- Molecular function:
- Cell component: Fanconi anaemia nuclear complex [GO:0043240]
- Biological process: DNA damage response [GO:0006974]
Normal function
Dysfunction and disease
Fanconi anemia, complementation group F [MIM:603467] [Load More]
[Gene NOT reviewed yet]
Associated conditions
| Acronym | Condition's_name | MOI | Mode_of_action |
OMIM_ID | No.cases |
|---|---|---|---|---|---|
FANCF |
Fanconia anemia, complementation group F | AR |
603467 |
0 (0 fams) |
Please mind that curation (inclusion of all reported patients) of this gene has not started yet. Please contact us if you want to volunteer.
Transcripts of FANCF
| Name | ENSEMBL_ID | LRG_ID | CCDS_ID | MANE | Transcript.type | Exons | Canonical | CDS_length | REFSEQ_ID |
|---|---|---|---|---|---|---|---|---|---|
| 201 | ENST00000327470.6 | 1 | CCDS7857 | Select | protein_coding | 1 | Yes | 3291 | NM_022725 |
Published variants
Found 0 variants
| Var.name ⓘ | Exon/Intron | cDNA_pos. | CDS_change | Prot.change | Var.type | Var.class. | Patients |
|---|
Please mind that curation (inclusion of all reported gene variants) has not started yet. Please contact us if you want to volunteer.
Diagnostic pitfalls & paradigms
Considerations to take into account when analyzing this gene
| Year | Paradigm ⓘ | PMID | Notes |
|---|---|---|---|
| - | Regions of Homology | - | |
| - | Cryptic splicing | - | Unreported or not recorded in our DB. |
| - | Uniparental disomy | - | Unreported or not recorded in our DB. |
| - | Mosaicism | - | Unreported or not recorded in our DB. |
| - | Incomplete penetrance | - | Unreported or not recorded in our DB. |
| - | Di-/oligo-genic inheritance | - | Unreported or not recorded in our DB. |
| - | Somatic reversion | - | Unreported or not recorded in our DB. |
References linked to variants in FANCF
Please mind that curation (inclusion of all relevant literature) has not started yet. Please contact us if you want to volunteer.
| ID | Year | Title | Journal | PMID | Variants |
|---|