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. 2016 Feb 25;98(3):473–489. doi: 10.1016/j.ajhg.2016.01.006

Figure 3.

Figure 3

Splice Isoforms of TRIP4 and ASCC1

(A) Genomic structure of TRIP4 (not drawn to scale). The introns are indicated by gray lines.

(B) The exons included into the various mRNA splice isoforms are depicted in green, and the red box indicates a frameshift.

(C) Sequence traces of the exon splice junctions. Their respective localization is marked on (B). The alternative splice acceptor site in exon 7 is highlighted by a red box.

(D) Genomic structure of ASCC1 (not drawn to scale).

(E) The transcript encoding the 41 kDa ASCC1 is the most abundant. Exon 3b, which contains a missense mutation in 5.4% of the ExAC alleles and leads to the truncation of the protein (p.Ser78∗), is only present in a rare ASCC1 45 kDa splice variant found in 0%–2% of the indicated GEO RNA-seq datasets.