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Chunk #12 — Results — Identification of a Novel Truncated Transcript of ZNF804A

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Expression of ZNF804A in human brain and alterations in schizophrenia, bipolar disorder, and major depressive disorder: a novel transcript fetally regulated by the psychosis risk variant rs1344706.
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Using RNAseq, 5′ RACE, end-to-end PCR, and quantitative reverse transcription–PCR, we identified a novel human transcript of ZNF804A in fetal and adult whole-brain RNA and in DLPFC. It skips the first 2 exons and has a new 5′ untranslated region in intron 2 (approximately 20 kilobases downstream of rs1344706) (eFigure 1 in the Supplement). This isoform, denoted ZNF804AE3E4, remains in frame and is predicted to encode an approximately 123-kDa protein that lacks the N-terminal 135 amino acids of ZNF804A, including the zinc finger domain located at residues 57 to 81. Given these findings, our quantitative analyses comprised separate assays for the 2 transcripts.