PRPF40B

PRPF40B

A gene on chromosome 12q13.12 that encodes a PRPF40 family protein which may play a role in pre-mRNA splicing. It is highly expressed in the testes, foetal kidney and foetal brain.
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The genes sequenced were part of a custom, targeted next-generation sequencing amplicon panel testing for 68 hematologic malignancy-associated genes (ABL1, ASXL1, ATM, BCOR, BCORL1, BIRC3, BRAF CALR, CBL, CDKN2A, CEBPA, CSF1R, CSF3R, DDX3X, DNMT3A, ETV6, EZH2, FAM5C, FBXW7, FLT3, GATA2, GNAS, HNRNPK, IDH1, IDH2, IL7R, JAK2, KIT, KLHL6, KRAS, MAP2K1, MAPK1, MIR142, MPL, MYC, MYCN, MYD88, NF1, NOTCH1, NOTCH2, NPM1, NRAS, PDGFRA, PHF6, POT1, PRPF40B, PTEN, PTPN11, RAD21, RIT1, RUNX1, SETBP1, SF1, SF3A1, SF3B1, SMC1A, SRSF2, STAG2, TBL1XR1, TET2, TP53, TPMT, U2AF1, U2AF2, WT1, XPO1, ZMYM3, and ZRSR2) (TruSeq Custom Amplicon, Illumina Inc.) based on previously described analyses [12,13].
Class I signaling FLT3 JAK2 MPL NF1 CBL LNK CBLB PTP11 Class II transcription factors CEBPA ETV6 NPM1 RARA RUNX1 Class III epigenetic regulators DNMT3A IDH1 IDH2 TET2 ASXL1 EZH2 PHF6 UTX EED Class IV tumor suppressor genes TP53 WT1 CDKN2A CDKN2B Class V RNA maturation SF3B1 SRSF2 U2AF1 SF1 SF3A1 PRPF40B One frequently mutated epigenetic regulator in AML is DNMT3A, with approximately 22% of CN-AML patients carrying a DNMT3A mutation [79].