PUF60

poly(U) binding splicing factor 60

Summary

This gene encodes a nucleic acid-binding protein that plays a role in a variety of nuclear processes, including pre-mRNA splicing and transcriptional regulation. The encoded protein forms a complex with the far upstream DNA element (FUSE) and FUSE-binding protein at the myelocytomatosis oncogene (MYC) promoter. This complex represses MYC transcription through the core-TFIIH basal transcription factor. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Aug 2012]

Known Variants124 total

rsidPosition (GRCh37)AllelesClassClinVar
rs25388409368:144,898,691C/G—uncertain significance
rs7646740008:144,898,694G/A—uncertain significance
rs7589411138:144,898,712T/C—pathogenic
rs25388416478:144,898,745A/T—likely pathogenic
rs25388417818:144,898,764A/T—uncertain significance
rs12220858078:144,898,800C/G—uncertain significance
rs1998841628:144,898,801A/G—likely benign
rs3748908158:144,898,805G/A—conflicting classifications of pathogenicity
rs7624226328:144,898,816C/T—likely benign
rs21302026928:144,898,820A/C—likely pathogenic
rs7563997648:144,898,881T/C—uncertain significance
rs10853071348:144,898,898C/Tmissense variantpathogenic
rs18163369038:144,898,899C/T—pathogenic
rs21302058668:144,898,911A/G—likely pathogenic
rs15638185148:144,898,922A/G—pathogenic
rs7739221928:144,898,960C/T—likely benign
rs18163458618:144,898,971G/C—likely pathogenic
rs25388439928:144,898,986T/C—uncertain significance
rs10575186818:144,898,991T/C—pathogenic
rs3755748008:144,898,992G/A—likely benign
rs25388460578:144,899,084T/C—uncertain significance
rs18163821288:144,899,090C/T—uncertain significance
rs25388462418:144,899,103G/A—pathogenic
rs15638196208:144,899,118G/A—pathogenic
rs3680183078:144,899,131C/G—likely benign
rs8676467608:144,899,132G/T—uncertain significance
rs15546420228:144,899,151G/A—pathogenic
rs18163909318:144,899,168G/A—uncertain significance
rs7768475788:144,899,171C/A—likely benign
rs9906857358:144,899,184G/A—uncertain significance
rs1877332618:144,899,194C/T—benign
rs1171787218:144,899,206C/T—likely benign
rs3712178118:144,899,234G/T—uncertain significance
rs14790233898:144,899,240G/A—uncertain significance
rs18164123808:144,899,273G/T—pathogenic
rs25388486108:144,899,285A/G—uncertain significance
rs12705406938:144,899,288G/A—uncertain significance
rs13602908598:144,899,301G/C—uncertain significance
rs7650596678:144,899,321G/A—likely benign
rs21302319718:144,899,522G/A—pathogenic
rs18164667288:144,899,551C/G—uncertain significance
rs25388530378:144,899,579G/A—uncertain significance
rs3711623658:144,899,580G/A—likely benign
rs2019568938:144,899,594G/C—uncertain significance
rs25388533328:144,899,599C/G—uncertain significance
rs3688040588:144,899,616C/T—likely benign
rs25388536438:144,899,624C/T—likely pathogenic
rs10853071388:144,899,761C/T—pathogenic
rs25388557868:144,899,764G/A—pathogenic
rs13090598678:144,899,856G/A—uncertain significance
rs15638234118:144,899,869T/A—pathogenic
rs25388573178:144,899,874A/T—likely pathogenic
rs25388576598:144,899,929G/A—likely pathogenic
rs3736136518:144,899,948G/C—pathogenic
rs1121437508:144,899,960C/T—likely benign
rs13658053698:144,900,039G/A—likely benign
rs13061433928:144,900,041C/T—uncertain significance
rs21302448848:144,900,046C/A—uncertain significance
rs1138243528:144,900,072C/G—likely benign
rs7633699788:144,900,081T/C—likely benign
rs1882356318:144,900,096C/T—benign
rs15546430998:144,900,136G/C—pathogenic
rs25388601098:144,900,157G/A—uncertain significance
rs18165584368:144,900,163T/G—conflicting classifications of pathogenicity
rs13172443948:144,900,181C/T—uncertain significance
rs18165657878:144,900,221G/A—pathogenic
rs14394301298:144,900,236G/A—uncertain significance
rs15546431688:144,900,247T/C—likely pathogenic
rs5458091338:144,900,308G/A—benign
rs18165912188:144,900,363C/T—uncertain significance
rs7641094688:144,900,390C/T—likely benign
rs15865701258:144,900,405C/T—likely benign
rs14784057958:144,900,420A/G—likely benign
rs10853071358:144,900,425C/Tmissense variantpathogenic
rs25388632838:144,900,436T/C—uncertain significance
rs21302530348:144,900,437A/G—likely pathogenic
rs3717855308:144,900,459G/A—likely benign
rs18166183118:144,900,542C/A—pathogenic
rs3981230018:144,900,548G/Amissense variantpathogenic
rs8860419958:144,900,568C/Tstop gainedpathogenic
rs21302564448:144,900,574A/G—likely pathogenic
rs10853071378:144,900,578C/Tmissense variantpathogenic
rs14034311358:144,900,602G/A—uncertain significance
rs18166272388:144,900,605C/G—uncertain significance
rs25388653808:144,900,614G/C—uncertain significance
rs21302574058:144,900,617G/A—conflicting classifications of pathogenicity
rs25388655338:144,900,629C/T—uncertain significance
rs7508681148:144,900,663G/A—likely benign
rs15546435848:144,900,664C/T—pathogenic
rs7496704898:144,900,682G/A—uncertain significance
rs21302585708:144,900,692G/A—uncertain significance
rs5767387068:144,902,309G/A——
rs21303087348:144,902,832T/G—uncertain significance
rs10287268108:144,903,758G/A—benign
rs13805097108:144,903,761G/A—uncertain significance
rs12102399528:144,903,790G/A—likely pathogenic
rs14640536608:144,903,793G/A—pathogenic
rs21303296338:144,903,799C/T—uncertain significance
rs14114333358:144,903,825T/C—uncertain significance
rs5317796428:144,903,845G/A—likely benign

Showing 100 of 124 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.