WRAP53 |
- 30
Haplo
Score - 0
Triplo
Score
Gene Facts External Data Attribution
- HGNC Symbol
- WRAP53 (HGNC:25522) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
- HGNC Name
- WD repeat containing antisense to TP53
- Gene type
- protein-coding gene
- Locus type
- gene with protein product
- Previous symbols
- WDR79
- Alias symbols
- FLJ10385, TCAB1
- %HI
- 65.51(Read more about the DECIPHER Haploinsufficiency Index)
- pLI
- 0(Read more about gnomAD pLI score)
- LOEUF
- 0.69(Read more about gnomAD LOEUF score)
- Cytoband
- 17p13.1
- Genomic Coordinates
-
GRCh37/hg19: chr17:7589389-7606820 NCBI Ensembl UCSC GRCh38/hg38: chr17:7686071-7703502 NCBI Ensembl UCSC - MANE Select Transcript
- NM_001143992.2 ENST00000396463.7 (Read more about MANE Select)
- Function
- RNA chaperone that plays a key role in telomere maintenance and RNA localization to Cajal bodies (PubMed:29804836, PubMed:29695869). Specifically recognizes and binds the Cajal body box (CAB box) present in both small Cajal body RNAs (scaRNAs) and telomerase RNA template component (TERC) (PubMed:19285445, PubMed:20351177, PubMed:29804836, PubMed:29695869). Essential component of the telomerase holoenzyme complex, a ribonucleoprotein complex essential for the replication of chromosome termini tha... (Source: Uniprot)
Dosage Sensitivity Summary (Gene)
Dosage ID:
ISCA-23919
Curation Status:
Complete
Issue Type:
Dosage Curation -
Gene
Haploinsufficiency:
Gene Associated with Autosomal Recessive Phenotype
(30)
Triplosensitivity:
No Evidence for Triplosensitivity
(0)
Last Evaluated:
12/15/2017
Haploinsufficiency (HI) Score Details
HI Score:
30
HI Evidence Strength:
Gene Associated with Autosomal Recessive Phenotype
(Disclaimer)
HI Disease:
- dyskeratosis congenita, autosomal recessive 3 Monarch
HI Evidence Comments:
Wrap53 is a natural antisense transcript of p53 that regulates endogenous p53 mRNA levels and is required for induction of p53
protein by targeting the 5'untranslated region of p53 mRNA [Farnebo, 2009, PMID:19571673] . Pathogenic missense variants in WRAP53 are known to cause Dyskeratosis Congenita type 3, an autosomal recessive condition. Deletions involving WRAP53 are essentially absent in both patient and control populations.
Triplosensitivity (TS) Score Details
TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)
Genomic View
Select assembly:
(NC_000017.10)
(NC_000017.11)