Information on FANCL
Basic details
Alt. symbols: PHF9 | FLJ10335 | FAAP43 | Pog
Approved name: FA complementation group L
Alt. names: PHD finger protein 9, Fanconi anemia complementation group L
Location: 2p16.1: 58159243 - 58241410 (-)
Gene type: protein_coding, 156 transcripts.
Scores: LoFtool: 0.985000 | pLI: 0.00000002 | LOEUF: 1.614
Normal function
Dysfunction and disease
Fanconi anemia, complementation group L [MIM:614083] [Load More]
[Gene NOT reviewed yet]
Associated conditions
| Acronym | Condition's_name | MOI | Mode_of_action |
OMIM_ID | No.cases |
|---|---|---|---|---|---|
FANCL |
Fanconi anemia, complementation group L | AR |
614083 |
0 (0 fams) |
Please mind that full curation (inclusion of all published patients) of this gene has not started yet. Please contact us if you want to volunteer.
Transcripts of FANCL
| Name | ENSEMBL_ID | LRG_ID | CCDS_ID | MANE | Transcript.type | Exons | Canonical | CDS_length | REFSEQ_ID |
|---|---|---|---|---|---|---|---|---|---|
| 201 | ENST00000233741.9 | 2 | CCDS1860 | Select | protein_coding | 14 | Yes | 1658 | NM_018062 |
| 207 | ENST00000446381.6 | protein_coding | No | 487 | XM_047444853 | ||||
| 202 | ENST00000402135.8 | 1 | CCDS46294 | protein_coding | 14 | No | 1698 | NM_001114636 | |
| 208 | ENST00000449070.6 | protein_coding | No | 964 | XM_017004416 | ||||
| 204 | ENST00000403676.6 | protein_coding | 10 | No | 849 | XM_054342727 | |||
| 206 | ENST00000427708.7 | protein_coding | No | 864 | NM_001374615 | ||||
| 216 | ENST00000696315.1 | nonsense_mediated_decay | No | XM_054342725 | |||||
| 225 | ENST00000696326.1 | protein_coding | No | NM_001410792 | |||||
| 277 | ENST00000696434.1 | protein_coding | No | XM_011532944 | |||||
| 333 | ENST00000696565.1 | nonsense_mediated_decay | No | XM_047444852 |
Published variants
Found 0 variants
| Var.name | Exon/Intron | cDNA_pos. | CDS_change | Prot.change | Var.type | Var.class. | Patients |
|---|
Please mind that full curation (inclusion of all published variants) of this gene 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 FANCL
| ID | Year | Title | Journal | PMID | Variants |
|---|