Fig. 6. Schematics of exon shrinkage by SCM found in DENND4A.

a The upper panel shows the gene structure of DENND4A obtained from gene annotation data of GENCODE⁴⁸ v24. The genomic coordinate is reversed so that the direction of transcription is from left to right. The lower panel is a close-up view of the SCM and exon 11 (E11). The gene structure for a control individual is followed by that for an affected individual with the SCM (c.1361 T > A), which induces exon shrinkage. The dotted box indicates the region of the shrinkage. b Effect of the SCM on the protein domain structure. The protein domain architecture is taken from SMART⁵³. The red rectangle indicates the 17-amino-acid-long fragment that is coded by the shrunken part of the exon. The vertical line indicates the position of the intron. The pink box indicates the low-complexity region. c A three-dimensional protein structural model of the DENN domain constructed by SWISS-MODEL⁵⁴. The 17-amino-acid-long fragment supposed to be deleted by the SCM is shown in red.