Figure 2
Figure 2. BIRC3 mutations in SMZL. (A) Schematic representation of the BIRC3 protein with its key functional domains. Color-coded symbols indicate the type and position of the mutations on BIRC3. The predicted BIRC3 polypeptides in SMZL cases harboring mutations that truncate the BIRC3 RING domain are aligned below (black bars represent normal coding regions; red bars represent the position of frameshifts and the length of translation before a stop codon is encountered). (B) Graphic representation of segmentation data from SMZL carrying BIRC3 deletions, visualized with Integrative Genomics Viewer (IGV) software (http//www.broadinstitute.org/igv). Each track represents 1 sample, where gray denotes a normal (diploid) copy number and blue indicates region of a copy number loss. Individual genes in the region are aligned in the bottom panel. Dual-color FISH validation of BIRC3 deletions (RP11-177O8-BIRC3–specific probe in green and chromosome 11 centromeric probe in orange). (C) Allelic (A or B) distribution of BIRC3 genetic lesions in individual SMZL samples. Chr11 indicates chromosome 11.

BIRC3 mutations in SMZL. (A) Schematic representation of the BIRC3 protein with its key functional domains. Color-coded symbols indicate the type and position of the mutations on BIRC3. The predicted BIRC3 polypeptides in SMZL cases harboring mutations that truncate the BIRC3 RING domain are aligned below (black bars represent normal coding regions; red bars represent the position of frameshifts and the length of translation before a stop codon is encountered). (B) Graphic representation of segmentation data from SMZL carrying BIRC3 deletions, visualized with Integrative Genomics Viewer (IGV) software (http//www.broadinstitute.org/igv). Each track represents 1 sample, where gray denotes a normal (diploid) copy number and blue indicates region of a copy number loss. Individual genes in the region are aligned in the bottom panel. Dual-color FISH validation of BIRC3 deletions (RP11-177O8-BIRC3–specific probe in green and chromosome 11 centromeric probe in orange). (C) Allelic (A or B) distribution of BIRC3 genetic lesions in individual SMZL samples. Chr11 indicates chromosome 11.

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