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XB-IMG-178630

Xenbase Image ID: 178630


Figure S2: Proband DCP-1040 is an obligatory compound heterozygous. (A) Breakpoints of the c.867_*343+1207del large deletion (3,931 nucleotides) in GAS2L2. Panels show overlapping read sequences aligned on RASL10B (upper) or GAS2L2 (lower). The 5’-breakpoint localizes within GAS2L2 exon 5 and 3’-end is within the 3’UTR of RASL10B. The lower panel also shows 7 reads encompassing the 4-nucleotide c.887_890del GAS2L2 deletion, which demonstrates the compound heterozygous genotype. Parallel sequencing data are shown as not reverse-complemented in the IGV viewer. (B) GAS2L2 copy-number variation analysis in subject DCP-1040 by parallel sequencing depth ratio analysis. Plot shows normalized depth ratio for 24 subjects analyzed within the same run. Mean depth for each capture probe was first normalized for each subject against the contribution of each subject to the run global depth. For each probe, the mean of the normalized depth ratio was calculated and adjusted to 1. Each point corresponds to the depth ratio of each controls (n= 23 grey symbols) or subject DCP1040 (red symbols). Error bars show the standard error of the mean. Exon 6, which is a large exon, was captured by two probes (Ex6-a and Ex6-b). Data highlight a heterozygous loss of most of exon 5 and entire exon 6.

Image published in: Bustamante-Marin XM et al. (2019)

Copyright © 2019. The Author(s)

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