DCPS

decapping enzyme, scavenger

Summary

This gene encodes a member of the histidine triad family of pyrophosphatases that removes short mRNA fragments containing the 5′ mRNA cap structure, which appear in the 3′ → 5′ mRNA decay pathway, following deadenylation and exosome-mediated turnover. This enzyme hydrolyzes the triphosphate linkage of the cap structure (7-methylguanosine nucleoside triphosphate) to yield 7-methylguanosine monophosphate and nucleoside diphosphate. It protects the cell from the potentially toxic accumulation of these short, capped mRNA fragments, and regulates the activity of other cap-binding proteins, which are inhibited by their accumulation. It also acts as a transcript-specific modulator of pre-mRNA splicing and microRNA turnover. [provided by RefSeq, Apr 2017]

Known Variants79 total

rsidPosition (GRCh37)AllelesClassClinVar
rs14775515911:126,173,992C/T—uncertain significance
rs76346970211:126,174,000G/C—uncertain significance
rs20110806611:126,174,012C/A—uncertain significance
rs37641016311:126,174,016A/G—uncertain significance
rs374091511:126,174,038C/T—benign
rs195154324011:126,174,046G/A—uncertain significance
rs14793559311:126,174,062G/T—conflicting classifications of pathogenicity
rs93174942511:126,174,111G/A—uncertain significance
rs137207598211:126,174,136G/T—uncertain significance
rs69502911:126,174,164C/T—benign
rs249725800111:126,174,177G/T—likely pathogenic
rs105751908311:126,174,178T/C—pathogenic
rs74633418011:126,174,180C/G—uncertain significance
rs14915099811:126,176,490A/T—uncertain significance
rs14487658511:126,176,503C/T—likely benign
rs13873792811:126,176,523C/T—pathogenic
rs75197214311:126,176,536G/A—likely benign
rs249726166711:126,176,546G/C—uncertain significance
rs63746211:126,176,578G/A—benign
rs37585362811:126,176,592A/G—uncertain significance
rs1054751011:126,178,920T/G——
rs386262711:126,181,592G/Aregulatory region variant—
rs7301739411:126,181,847C/T——
rs7301739911:126,186,312G/Cintron variant—
rs169573911:126,196,175A/Gregulatory region variant—
rs5620760011:126,196,537G/Aintron variant—
rs179408911:126,196,807G/Aintron variant—
rs195177357111:126,200,276C/T—likely benign
rs65192211:126,201,290A/Gintron variant—
rs20155019311:126,201,309C/T—uncertain significance
rs36964367211:126,201,338C/T—uncertain significance
rs20113256911:126,201,356C/T—uncertain significance
rs56280012111:126,201,368C/T—uncertain significance
rs90457268811:126,201,377C/T—likely pathogenic
rs77580645411:126,201,384C/T—uncertain significance
rs77993736511:126,201,424G/A—likely benign
rs19094664011:126,201,433C/T—likely benign
rs3463739311:126,208,188A/G—likely benign
rs76233198811:126,208,193A/C—uncertain significance
rs77277601411:126,208,199G/A—uncertain significance
rs14735312611:126,208,208G/A—uncertain significance
rs75144251111:126,208,215C/T—uncertain significance
rs18847169911:126,208,216G/A—likely benign
rs55640132311:126,208,220C/Tmissense variantpathogenic
rs13917073811:126,208,232G/C—likely benign
rs14399357111:126,208,236A/G—uncertain significance
rs249730081511:126,208,269C/G—uncertain significance
rs77052853811:126,208,295G/A—pathogenic
rs57246635011:126,208,299A/C—likely benign
rs7575701611:126,212,022G/Aregulatory region variant—
rs77519433411:126,213,196A/G—likely benign
rs75520372411:126,213,235C/T—uncertain significance
rs3583634311:126,213,242G/A—likely benign
rs75783011111:126,213,256C/T—uncertain significance
rs15107413611:126,213,269C/T—uncertain significance
rs14099708011:126,213,280C/T—uncertain significance
rs7951490011:126,213,282G/A—benign
rs75424666311:126,213,289A/G—uncertain significance
rs24053611:126,213,395T/G——
rs145521085411:126,215,246C/T—uncertain significance
rs14679417311:126,215,263C/T—uncertain significance
rs14037744911:126,215,285G/A—conflicting classifications of pathogenicity
rs75202053011:126,215,294T/G—uncertain significance
rs14249206611:126,215,298C/T—likely benign
rs36858940111:126,215,349C/T—likely benign
rs76887282711:126,215,350G/T—likely pathogenic
rs76877896511:126,215,355C/T—likely benign
rs18892339711:126,215,359G/A—uncertain significance
rs14313528811:126,215,362T/G—likely benign
rs75996690111:126,215,374C/T—uncertain significance
rs195191501711:126,215,391T/C—likely benign
rs14820768711:126,215,400C/T—likely benign
rs121536300911:126,215,412G/C—uncertain significance
rs13794119011:126,215,441C/Gmissense variantconflicting classifications of pathogenicity
rs14329441311:126,215,448C/T—likely benign
rs20174616611:126,215,466C/T—likely benign
rs15091772811:126,215,471C/G—likely benign
rs13935438111:126,215,507G/A—likely benign
rs1713540111:126,218,773C/Gregulatory region variant—

Gene information from NCBI Gene. Variant classifications from ClinVar.