• 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)