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Fig. 1 | BMC Medical Genetics

Fig. 1

From: PHACTR1 splicing isoforms and eQTLs in atherosclerosis-relevant human cells

Fig. 1

Six PHACTR1 transcripts are expressed in human samples. We combined Rapid Amplification of cDNA Ends (RACE) and long-read DNA sequencing (Pacific Biosciences) to identify all PHACTR1 mRNA transcripts expressed in human samples. Although we identified multiple transcripts, they give rise to six main transcripts. The schematic diagram shows the PHACTR1 gene (top) and the six main transcripts below. The coronary artery disease-associated SNP rs9349379 (red arrow) is located in a large intron (207,613-bp) between exons 5 and 6. The start codons for the long, intermediate A, intermediate B and short transcripts are located, respectively, in exons 4, 7.8, 8, and 14. The stop codon for all six transcripts is in exon 18. In blue, we highlight the in-frame, 207-bp long, exon 10.11 that is included in intermediate transcripts A+ and B+. In green, we highlight part of exon 14 that is specific to the short transcript. We also indicated the different oligonucleotides used in our experiments; numbers referred to their sequences in Additional file 1. UTR, untranslated transcribed region; CDS, coding DNA sequence; ATG, start codon; TER, terminator codon. The figure was drawn to scale using GSDS2.0 [19]

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