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/Tuncertain significance
rs76346970211:126,174,000G/Cuncertain significance
rs20110806611:126,174,012C/Auncertain significance
rs37641016311:126,174,016A/Guncertain significance
rs374091511:126,174,038C/Tbenign
rs195154324011:126,174,046G/Auncertain significance
rs14793559311:126,174,062G/Tconflicting classifications of pathogenicity
rs93174942511:126,174,111G/Auncertain significance
rs137207598211:126,174,136G/Tuncertain significance
rs69502911:126,174,164C/Tbenign
rs249725800111:126,174,177G/Tlikely pathogenic
rs105751908311:126,174,178T/Cpathogenic
rs74633418011:126,174,180C/Guncertain significance
rs14915099811:126,176,490A/Tuncertain significance
rs14487658511:126,176,503C/Tlikely benign
rs13873792811:126,176,523C/Tpathogenic
rs75197214311:126,176,536G/Alikely benign
rs249726166711:126,176,546G/Cuncertain significance
rs63746211:126,176,578G/Abenign
rs37585362811:126,176,592A/Guncertain 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/Tlikely benign
rs65192211:126,201,290A/Gintron variant
rs20155019311:126,201,309C/Tuncertain significance
rs36964367211:126,201,338C/Tuncertain significance
rs20113256911:126,201,356C/Tuncertain significance
rs56280012111:126,201,368C/Tuncertain significance
rs90457268811:126,201,377C/Tlikely pathogenic
rs77580645411:126,201,384C/Tuncertain significance
rs77993736511:126,201,424G/Alikely benign
rs19094664011:126,201,433C/Tlikely benign
rs3463739311:126,208,188A/Glikely benign
rs76233198811:126,208,193A/Cuncertain significance
rs77277601411:126,208,199G/Auncertain significance
rs14735312611:126,208,208G/Auncertain significance
rs75144251111:126,208,215C/Tuncertain significance
rs18847169911:126,208,216G/Alikely benign
rs55640132311:126,208,220C/Tmissense variantpathogenic
rs13917073811:126,208,232G/Clikely benign
rs14399357111:126,208,236A/Guncertain significance
rs249730081511:126,208,269C/Guncertain significance
rs77052853811:126,208,295G/Apathogenic
rs57246635011:126,208,299A/Clikely benign
rs7575701611:126,212,022G/Aregulatory region variant
rs77519433411:126,213,196A/Glikely benign
rs75520372411:126,213,235C/Tuncertain significance
rs3583634311:126,213,242G/Alikely benign
rs75783011111:126,213,256C/Tuncertain significance
rs15107413611:126,213,269C/Tuncertain significance
rs14099708011:126,213,280C/Tuncertain significance
rs7951490011:126,213,282G/Abenign
rs75424666311:126,213,289A/Guncertain significance
rs24053611:126,213,395T/G
rs145521085411:126,215,246C/Tuncertain significance
rs14679417311:126,215,263C/Tuncertain significance
rs14037744911:126,215,285G/Aconflicting classifications of pathogenicity
rs75202053011:126,215,294T/Guncertain significance
rs14249206611:126,215,298C/Tlikely benign
rs36858940111:126,215,349C/Tlikely benign
rs76887282711:126,215,350G/Tlikely pathogenic
rs76877896511:126,215,355C/Tlikely benign
rs18892339711:126,215,359G/Auncertain significance
rs14313528811:126,215,362T/Glikely benign
rs75996690111:126,215,374C/Tuncertain significance
rs195191501711:126,215,391T/Clikely benign
rs14820768711:126,215,400C/Tlikely benign
rs121536300911:126,215,412G/Cuncertain significance
rs13794119011:126,215,441C/Gmissense variantconflicting classifications of pathogenicity
rs14329441311:126,215,448C/Tlikely benign
rs20174616611:126,215,466C/Tlikely benign
rs15091772811:126,215,471C/Glikely benign
rs13935438111:126,215,507G/Alikely benign
rs1713540111:126,218,773C/Gregulatory region variant

Gene information from NCBI Gene. Variant classifications from ClinVar.