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Chunk #5 — Gene Regulation and Variation and Protein Structure — Bioinformatic Analysis

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ADH1B: From alcoholism, natural selection, and cancer to the human phenome.
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Five different transcripts are expressed by ADH1B and they showed tissue-specific distribution (Figure 2). Specifically, ENST00000506651 and ENST0000039488 account for the most ADH1B expression, but ENST00000506651 is the most expressed isoform in all tissues with the exception of liver, where ENST00000394887 is the most expressed (Supplemental Figure 1). According to the CCDS (Consensus Coding Sequence) database (available at https://www.ncbi.nlm.nih.gov/CCDS/CcdsBrowse.cgi; [Farrell and others 2014]), ENST00000305046 and ENST00000394887 were considered coding sequences with high-quality annotation (CCDS ID: 34033.1 and 68761.1, respectively) and their protein products are annotated in the UniProt database (Uniprot ID: P00325; data available at http://www.uniprot.org/; [Magrane and UniProt Consortium 2011]). ENST00000305046 (CCDS ID: 34033.1) corresponds to the canonical ADH1B isoform (P00325-1; Length: 375 aa) whereas ENST00000394887 corresponds to the ADH1B isoform 2 (P00325-2; Length: 345 aa). ADH1B isoform 2 differs from the ADH1B canonical isoform in that it lacks the initial 40 amino acids (Supplemental Figure 2).