Hela Azaiez, Kevin T. Booth, Sean S. Ephraim, Bradley Crone, Elizabeth A. Black-. Ziegelbein, Robert J. Marini, A. Eliot Shearer, Christina M. Sloan-Heggen, ...
The American Journal of Human Genetics, Volume 103
Supplemental Data
Genomic Landscape and Mutational Signatures of Deafness-Associated Genes Hela Azaiez, Kevin T. Booth, Sean S. Ephraim, Bradley Crone, Elizabeth A. BlackZiegelbein, Robert J. Marini, A. Eliot Shearer, Christina M. Sloan-Heggen, Diana Kolbe, Thomas Casavant, Michael J. Schnieders, Carla Nishimura, Terry Braun, and Richard J.H. Smith
Figure S1. Known pathogenic variants’ distribution by maximum population-specific MAFs and pathogenicity scores. Over 95% of known deafness-associated variants have a composite pathogenicity score greater than or equal to 60%.
Figure S2. Diverse variation rates for deafness-associated genes. (A) Total number of variants per gene for genes with less than 14 P+LP variants. (B and C) Number of all variants normalized to gene size. ACTG1 had the highest variant rate (41%) however the majority of genes showed a variation rate below 10%.
Figure S3. Variation rate for deafness-associated genes. (A) Normalized number of coding variants based on the size of the coding and splice regions. (B) Normalized number of deafnessassociated variants (P+LP) based on the total number of coding variants. Only genes with less than 14 reported deafness-associated variants are included in this figure.
Figure S4. Genomic landscape of deafness-associated genes. (A). Distribution of LOF, missense and synonymous variants is different across genes. (B) LOF variants are rarely classified as benign and the contribution of this type of variants is diverse amongst genes. (C) The contribution of missense variants to the mutational pool of hearing loss is variable across genes. In some genes, the majority of missense variants are classified as benign. (D) The mutational spectrum is gene-specific. Only genes with less than 14 reported deafness-associated variants are included in this figure.
Figure S5. MAFs thresholds for deafness-associated variants are gene-specific. Boxplot of MAFs of all P/LP variants in each deafness-associated gene. Only genes with less than 14 reported deafness-associated variants are included in this figure.
Figure S6. Worldwide DVD usage. The DVD is a well-utilized resource by the scientific and clinical community across the world. Statistics from March 2, 2017 to March 2, 2018.
