BPTF

bromodomain PHD finger transcription factor

Summary

This gene was identified by the reactivity of its encoded protein to a monoclonal antibody prepared against brain homogenates from patients with Alzheimer's disease. Analysis of the original protein (fetal Alz-50 reactive clone 1, or FAC1), identified as an 810 aa protein containing a DNA-binding domain and a zinc finger motif, suggested it might play a role in the regulation of transcription. High levels of FAC1 were detected in fetal brain and in patients with neurodegenerative diseases. The protein encoded by this gene is actually much larger than originally thought, and it also contains a C-terminal bromodomain characteristic of proteins that regulate transcription during proliferation. The encoded protein is highly similar to the largest subunit of the Drosophila NURF (nucleosome remodeling factor) complex. In Drosophila, the NURF complex, which catalyzes nucleosome sliding on DNA and interacts with sequence-specific transcription factors, is necessary for the chromatin remodeling required for transcription. Two alternative transcripts encoding different isoforms have been described completely. [provided by RefSeq, Jul 2008]

Known Variants651 total

rsidPosition (GRCh37)AllelesClassClinVar
rs93865577017:65,821,868A/C—uncertain significance
rs86824218617:65,821,876C/G—likely benign
rs250936794817:65,821,904C/A—uncertain significance
rs250936859617:65,821,909C/T—likely benign
rs205593675517:65,821,917C/T—uncertain significance
rs250936941417:65,821,918A/G—likely benign
rs205593865817:65,821,932C/T—uncertain significance
rs250937188417:65,821,946A/G—uncertain significance
rs205594096617:65,821,949G/C—uncertain significance
rs205594296217:65,821,972C/G—likely benign
rs90641393917:65,821,975C/T—likely benign
rs105562344917:65,821,985G/A—uncertain significance
rs124021415917:65,821,986G/C—uncertain significance
rs131783732717:65,822,023G/A—likely benign
rs250937948017:65,822,040C/T—uncertain significance
rs205595302617:65,822,043G/C—uncertain significance
rs101134259517:65,822,045G/C—uncertain significance
rs124464357817:65,822,046G/C—uncertain significance
rs18940533617:65,822,048G/T—uncertain significance
rs205595622017:65,822,051A/C—uncertain significance
rs122174601417:65,822,087G/C—likely benign
rs205596523617:65,822,088C/G—uncertain significance
rs205596630917:65,822,091C/T—uncertain significance
rs250938500517:65,822,097G/T—uncertain significance
rs134833076217:65,822,102A/G—uncertain significance
rs142397376717:65,822,118G/C—uncertain significance
rs105519217317:65,822,127G/C—likely benign
rs207557963217:65,822,129G/A—uncertain significance
rs100490580717:65,822,131C/G—likely benign
rs103725231617:65,822,137C/G—likely benign
rs250939042217:65,822,138G/A—uncertain significance
rs134367459317:65,822,161C/G—likely benign
rs76872306617:65,822,174G/T—uncertain significance
rs78135877417:65,822,175C/T—likely benign
rs250939436417:65,822,183A/T—uncertain significance
rs74579369317:65,822,192C/T—uncertain significance
rs129897098117:65,822,193G/A—uncertain significance
rs205599619717:65,822,239G/A—likely benign
rs78120424517:65,822,290C/T—likely benign
rs74840117117:65,822,291G/A—uncertain significance
rs14377021317:65,822,295C/G—uncertain significance
rs14816272017:65,822,296C/T—likely benign
rs250940277017:65,822,308G/C—uncertain significance
rs205600683017:65,822,309G/A—uncertain significance
rs37419893217:65,822,315G/A—conflicting classifications of pathogenicity
rs7335176017:65,822,320C/G—benign
rs250940443417:65,822,330G/A—uncertain significance
rs250940541717:65,822,348G/A—uncertain significance
rs128433936017:65,822,352A/G—uncertain significance
rs75833234417:65,822,383C/G—uncertain significance
rs205601955817:65,822,395C/T—likely benign
rs74783177917:65,822,396G/A—uncertain significance
rs214347655017:65,822,405T/A—uncertain significance
rs3571104117:65,822,410G/A—benign
rs129233924217:65,822,421T/G—conflicting classifications of pathogenicity
rs141248977217:65,822,432A/G—uncertain significance
rs14270379917:65,822,444A/G—likely benign
rs205602603617:65,822,448C/T—uncertain significance
rs102737060117:65,822,457C/T—uncertain significance
rs1260358917:65,825,248T/Cintron variant—
rs1260192117:65,825,354C/Tintron variant—
rs991559117:65,826,090C/Gintron variant—
rs6208420817:65,827,443C/Tintron variant—
rs208009017:65,828,371T/Aintron variant—
rs1244931217:65,829,358A/Cintron variant—
rs197605317:65,833,002C/T——
rs720890917:65,833,546T/A——
rs8013594717:65,836,001A/G——
rs650454317:65,837,659T/Cupstream gene variant—
rs807351017:65,839,210A/T——
rs1187128517:65,840,809G/A——
rs1186895917:65,840,810T/Cdownstream gene variant—
rs236546717:65,841,285A/T——
rs6208423417:65,847,060A/Gintron variant—
rs159826087417:65,850,077A/G—uncertain significance
rs76526283517:65,850,080G/A—uncertain significance
rs75488784217:65,850,086G/A—uncertain significance
rs251008929717:65,850,092C/T—uncertain significance
rs251008936317:65,850,095T/C—uncertain significance
rs19069265817:65,850,116C/T—uncertain significance
rs77147432717:65,850,192C/T—likely benign
rs251009180917:65,850,211G/A—uncertain significance
rs20165805217:65,850,232C/G—uncertain significance
rs214498893817:65,850,256G/A—uncertain significance
rs251009240817:65,850,260C/T—uncertain significance
rs124928632417:65,850,283A/G—uncertain significance
rs251009293817:65,850,284C/T—uncertain significance
rs76401506417:65,850,291G/A—uncertain significance
rs251009346717:65,850,301C/T—uncertain significance
rs74848051217:65,850,402C/T—likely benign
rs77005147017:65,850,403A/G—uncertain significance
rs116896181117:65,850,412A/T—uncertain significance
rs14502470217:65,850,417G/A—likely benign
rs14224597317:65,850,468C/T—likely benign
rs20085393417:65,850,469G/T—uncertain significance
rs18246830417:65,850,483A/G—likely benign
rs18710554117:65,850,501A/G—benign
rs99175534417:65,850,516G/C—uncertain significance
rs214499884417:65,850,569T/C—uncertain significance
rs214499892617:65,850,574C/T—likely pathogenic

Showing 100 of 651 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.