Information on RFWD3
Basic details
Alt. symbols: FLJ10520 | RNF201 | FANCW
Approved name: ring finger and WD repeat domain 3
Alt. names: E3 ubiquitinprotein ligase RFWD3 | RING finger and WD repeat domaincontaining protein 3 | RING finger protein 201 | RINGtype E3 ubiquitin transferase RFWD3
Location: 16q23.1: 74621399 - 74666877 (-)
Gene type: protein_coding, 12 transcripts.
Scores: LoFtool: 0.755000 | pLI: 0.52527350 | LOEUF: 0.778
Normal function
Dysfunction and disease
?Fanconi anemia, complementation group W [MIM:617784] [Load More]
[Gene NOT reviewed yet]
Associated conditions
| Acronym | Condition's_name | MOI | Mode_of_action |
OMIM_ID | No.cases |
|---|---|---|---|---|---|
FANCW |
Fanconi anemia, complementation group W | AR |
617784 |
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 RFWD3
| Name | ENSEMBL_ID | LRG_ID | CCDS_ID | MANE | Transcript.type | Exons | Canonical | CDS_length | REFSEQ_ID |
|---|---|---|---|---|---|---|---|---|---|
| 201 | ENST00000361070.9 | CCDS32486 | Select | protein_coding | 13 | Yes | 4948 | NM_001370534,NM_001370536,NM_001370537,NM_001370539,NM_018124 | |
| 202 | ENST00000571750.5 | CCDS32486 | protein_coding | 14 | No | 3033 | NM_001370535,NM_001370540,NM_001370542,NM_001370543 |
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 RFWD3
| ID | Year | Title | Journal | PMID | Variants |
|---|