Information on WRAP53
Basic details
Alt. symbols: WDR79 | FLJ10385 | TCAB1
Approved name: WD repeat containing antisense to TP53
Alt. names: WD repeat domain 79, WD repeat containing, antisense to TP53 | telomerase cajal body protein 1, WD-encoding RNA antisense to p53
Location: 17p13.1: 7686071 - 7703502 (+)
Gene type: protein_coding, 16 transcripts.
Scores: LoFtool: 0.759000 | pLI: 0.61746302 | LOEUF: 0.690
Normal function
Dysfunction and disease
Dyskeratosis congenita, autosomal recessive 3 [MIM:613988] [Load More]
[Gene NOT reviewed yet]
Associated conditions
| Acronym | Condition's_name | MOI | Mode_of_action |
OMIM_ID | No.cases |
|---|---|---|---|---|---|
DKC3 |
Dyskeratosis congenita 3 | AR |
Loss of Function | 613988 |
2 (2 fams) |
Please mind that full curation (inclusion of all published patients) of this gene has not been completed yet. It is currently ongoing.
Transcripts of WRAP53
| Name | ENSEMBL_ID | LRG_ID | CCDS_ID | MANE | Transcript.type | Exons | Canonical | CDS_length | REFSEQ_ID |
|---|---|---|---|---|---|---|---|---|---|
| 202 | ENST00000396463.7 | CCDS11119 | Select | protein_coding | 11 | Yes | 1749 | NM_001143992,NM_018081 | |
| 201 | ENST00000316024.9 | 1 | CCDS11119 | protein_coding | 10 | No | 4011 | NM_018081 | |
| 204 | ENST00000457584.6 | CCDS11119 | protein_coding | 11 | No | 1828 | NM_001143991 | ||
| 203 | ENST00000431639.6 | CCDS11119 | protein_coding | 11 | No | 1818 | NM_001143990 |
Published variants
Found 1 variants
| Var.name | Exon/Intron | cDNA_pos. | CDS_change | Prot.change | Var.type | Var.class. | Patients |
|---|---|---|---|---|---|---|---|
| H376Y |
EX7 | 3474 | c.1126C>T | p.His376Tyr | missense_variant | Pathogenic | 1 |
Please mind that full curation (inclusion of all published variants) of this gene has not been completed yet. It is currently ongoing.
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 WRAP53
| ID | Year | Title | Journal | PMID | Variants |
|---|---|---|---|---|---|
| 6 |
2011 | Disruption of telomerase trafficking by TCAB1 mutation cause... | Genes. Dev. | 21205863 |
1 |