WRAP53 Chromosome 17
WD repeat containing antisense to TP53
Upload your DNA to see your personal genotypes for variants in WRAP53.
What This Gene Does
This gene encodes an essential component of the telomerase holoenzyme complex, a ribonucleoprotein complex required for telomere synthesis. This protein is enriched in Cajal bodies, nuclear sites of RNP processing that are important for telomerase function. It interacts with dyskerin, TERT and TERC, other components of active telomerase, and with small Cajal body RNAs (scaRNAs), which are involved in modifying splicing RNAs. This mRNA also functions as a p53 antisense transcript, that regulates endogenous p53 mRNA levels and further induction of p53 protein by targeting the 5' untranslated region of p53 mRNA. Alternatively spliced transcript variants which differ only in the 5' UTR have been found for this gene. [provided by RefSeq, Mar 2011]
Gene Info
Gene Group
"WD repeat domain containing|Telomerase holoenzyme subunits"
Locus Type
gene with protein product
Location
17p13.1
Ensembl
ENSG00000141499
Associated Conditions (5)
Dyskeratosis congenita
autosomal recessive 3
WRAP53-related disorder
Hereditary cancer
Hereditary cancer-predisposing syndrome
Key Variants
RS116535684
Conflicting classifications of pathogenicity
Health Risk
RS1342817999
Conflicting classifications of pathogenicity
Dyskeratosis congenita, autosomal recessive 3, Dyskeratosis congenita
Health Risk
RS138784430
Conflicting classifications of pathogenicity
Dyskeratosis congenita, autosomal recessive 3, Dyskeratosis congenita
Health Risk
RS144549494
Conflicting classifications of pathogenicity
Dyskeratosis congenita, autosomal recessive 3, Dyskeratosis congenita
Health Risk
RS146651237
Conflicting classifications of pathogenicity
Dyskeratosis congenita, autosomal recessive 3, WRAP53-related disorder
Health Risk
RS147817526
Conflicting classifications of pathogenicity
Dyskeratosis congenita, autosomal recessive 3, Dyskeratosis congenita
Health Risk
RS1484627654
Conflicting classifications of pathogenicity
Dyskeratosis congenita, autosomal recessive 3, Dyskeratosis congenita
Health Risk
RS149359927
Conflicting classifications of pathogenicity
Dyskeratosis congenita, WRAP53-related disorder, Dyskeratosis congenita
Health Risk
RS150180394
Conflicting classifications of pathogenicity
Dyskeratosis congenita, autosomal recessive 3, Dyskeratosis congenita
Health Risk
RS199901527
Conflicting classifications of pathogenicity
Dyskeratosis congenita, autosomal recessive 3, WRAP53-related disorder
Health Risk
RS200147473
Conflicting classifications of pathogenicity
Hereditary cancer, Hereditary cancer
Health Risk
RS2543751607
Conflicting classifications of pathogenicity
Dyskeratosis congenita, autosomal recessive 3, Dyskeratosis congenita
Health Risk
All Variants (28)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS116535684 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS1342817999 | Health Risk | Conflicting classifications of pathogenicity | Dyskeratosis congenita, autosomal recessive 3, Dyskeratosis congenita |
| RS138784430 | Health Risk | Conflicting classifications of pathogenicity | Dyskeratosis congenita, autosomal recessive 3, Dyskeratosis congenita |
| RS144549494 | Health Risk | Conflicting classifications of pathogenicity | Dyskeratosis congenita, autosomal recessive 3, Dyskeratosis congenita |
| RS146651237 | Health Risk | Conflicting classifications of pathogenicity | Dyskeratosis congenita, autosomal recessive 3, WRAP53-related disorder |
| RS147817526 | Health Risk | Conflicting classifications of pathogenicity | Dyskeratosis congenita, autosomal recessive 3, Dyskeratosis congenita |
| RS1484627654 | Health Risk | Conflicting classifications of pathogenicity | Dyskeratosis congenita, autosomal recessive 3, Dyskeratosis congenita |
| RS149359927 | Health Risk | Conflicting classifications of pathogenicity | Dyskeratosis congenita, WRAP53-related disorder, Dyskeratosis congenita |
| RS150180394 | Health Risk | Conflicting classifications of pathogenicity | Dyskeratosis congenita, autosomal recessive 3, Dyskeratosis congenita |
| RS199901527 | Health Risk | Conflicting classifications of pathogenicity | Dyskeratosis congenita, autosomal recessive 3, WRAP53-related disorder |
| RS200147473 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer, Hereditary cancer |
| RS2543751607 | Health Risk | Conflicting classifications of pathogenicity | Dyskeratosis congenita, autosomal recessive 3, Dyskeratosis congenita |
| RS281865548 | Health Risk | Conflicting classifications of pathogenicity | Dyskeratosis congenita, autosomal recessive 3, Hereditary cancer-predisposing syndrome |
| RS281865550 | Health Risk | Conflicting classifications of pathogenicity | Dyskeratosis congenita, autosomal recessive 3, Dyskeratosis congenita |
| RS371953585 | Health Risk | Conflicting classifications of pathogenicity | Dyskeratosis congenita, autosomal recessive 3, Dyskeratosis congenita |
| RS372166304 | Health Risk | Conflicting classifications of pathogenicity | Dyskeratosis congenita, autosomal recessive 3, Dyskeratosis congenita |
| RS372606750 | Health Risk | Conflicting classifications of pathogenicity | Dyskeratosis congenita, autosomal recessive 3, Dyskeratosis congenita |
| RS570343418 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS770005848 | Health Risk | Conflicting classifications of pathogenicity | Dyskeratosis congenita, autosomal recessive 3, Dyskeratosis congenita |
| RS771063284 | Health Risk | Conflicting classifications of pathogenicity | Dyskeratosis congenita, autosomal recessive 3, Dyskeratosis congenita |
| RS773916846 | Health Risk | Conflicting classifications of pathogenicity | Dyskeratosis congenita, autosomal recessive 3, Dyskeratosis congenita |
| RS955112491 | Health Risk | Conflicting classifications of pathogenicity | Dyskeratosis congenita, autosomal recessive 3, Dyskeratosis congenita |
| RS1064796155 | Health Risk | Likely pathogenic | — |
| RS2074277177 | Health Risk | Likely pathogenic | — |
| RS281865547 | Health Risk | Likely pathogenic | Dyskeratosis congenita, autosomal recessive 3, Dyskeratosis congenita |
| RS1206472792 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS1597422298 | Health Risk | Pathogenic | Dyskeratosis congenita, autosomal recessive 3, Dyskeratosis congenita |
| RS281865549 | Health Risk | Pathogenic | Dyskeratosis congenita, autosomal recessive 3, Dyskeratosis congenita |