ELP4

elongator acetyltransferase complex subunit 4

Summary

This gene encodes a component of the six subunit elongator complex, a histone acetyltransferase complex that associates directly with RNA polymerase II during transcriptional elongation. The human gene can partially complement sensitivity phenotypes of yeast ELP4 deletion mutants. This gene has also been associated with Rolandic epilepsy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2013]

Known Variants70 total

rsidPosition (GRCh37)AllelesClassClinVar
rs36844324011:31,531,346A/C—likely benign
rs76022439911:31,531,348C/T—uncertain significance
rs37220971811:31,531,362G/A—likely benign
rs19994239711:31,531,394C/G—likely benign
rs145119591611:31,531,413A/G—uncertain significance
rs148883668611:31,531,423G/T—uncertain significance
rs37381633311:31,531,424G/T—uncertain significance
rs20151312411:31,531,458G/T—uncertain significance
rs117972829811:31,531,496G/T—likely benign
rs14100247211:31,531,566G/A—benign
rs55509111:31,532,959T/Cupstream gene variant—
rs37385395011:31,541,616C/T—likely benign
rs75335298411:31,541,624C/G—uncertain significance
rs298481411:31,554,964G/Tintron variant—
rs75888315011:31,561,221A/G—likely pathogenic
rs74837502811:31,561,275A/G—likely benign
rs20133371811:31,561,287T/C—benign
rs3461894311:31,570,861T/Aintron variant—
rs795250911:31,599,910C/Tintron variant—
rs14405674311:31,616,371G/T—uncertain significance
rs19990108411:31,616,423G/A—uncertain significance
rs195764620011:31,616,429A/C—uncertain significance
rs74903334811:31,625,318G/A—uncertain significance
rs127866562211:31,625,342G/A—uncertain significance
rs77160023711:31,625,349A/G—uncertain significance
rs20169959511:31,625,373C/A—likely benign
rs37691265511:31,625,407A/T—benign
rs254064132311:31,625,429T/C—uncertain significance
rs77697876011:31,625,444G/A—uncertain significance
rs98652711:31,636,481G/T——
rs1103143411:31,653,212G/Aintron variant—
rs78087086011:31,653,784A/C—conflicting classifications of pathogenicity
rs37278479011:31,653,788A/G—uncertain significance
rs75400964911:31,653,791G/A—uncertain significance
rs75522556011:31,653,826C/T—likely benign
rs159217540411:31,653,835C/T—likely benign
rs194487745311:31,653,837G/A—uncertain significance
rs129520334311:31,653,867T/C—uncertain significance
rs77575443411:31,653,873A/C—uncertain significance
rs76875074611:31,653,890C/T—uncertain significance
rs76630238211:31,653,907C/T—likely benign
rs75576260111:31,653,911C/A—likely pathogenic
rs3480435711:31,653,923A/C—benign
rs492287211:31,653,956C/A—benign
rs155496610711:31,653,957G/T—likely benign
rs1692233811:31,653,969A/G—benign
rs1103143611:31,663,882A/Tintron variant—
rs74984281711:31,669,308G/C—uncertain significance
rs36988999311:31,669,358T/A—uncertain significance
rs194523725911:31,669,384T/G—uncertain significance
rs3477183711:31,671,677C/T—conflicting classifications of pathogenicity
rs37606127711:31,671,690G/A—uncertain significance
rs96411211:31,678,948C/G——
rs748288411:31,683,485A/Tintron variant—
rs60623138811:31,685,945C/A—pathogenic
rs198438911:31,740,989A/Cintron variant—
rs712596611:31,799,873G/T——
rs302641111:31,801,544A/Tdownstream gene variant—
rs159231122411:31,804,973A/G—uncertain significance
rs302640411:31,804,978G/C—likely benign
rs77111020711:31,804,980C/T—uncertain significance
rs20015506111:31,804,981G/A—uncertain significance
rs76179625811:31,805,010G/A—likely benign
rs18503140311:31,805,014A/G—conflicting classifications of pathogenicity
rs7754296211:31,805,017G/T—benign
rs20001889311:31,805,038T/C—conflicting classifications of pathogenicity
rs6173688811:31,805,045C/T—benign
rs302639811:31,808,775G/Adownstream gene variantbenign
rs66270211:31,809,070C/Tdownstream gene variantbenign
rs1242102611:31,809,322C/Tdownstream gene variantbenign

Gene information from NCBI Gene. Variant classifications from ClinVar.