Figure 1. Genomic characteristics of ATRX in human cancer.

(A) Diagram with 2 major functional domains of ATRX (ADD and ATPase/helicase). ATRX complexes with DAXX to promote deposition of histone 3.3 throughout the genome, with especially high concentrations at constitutive heterochromatin. (B) Alterations in ATRX in human cancers from TCGA sequencing database. (C) Schematic of the most frequently mutated genes in a human soft tissue sarcoma cohort comprising leiomyosarcoma, myxofibrosarcoma, and undifferentiated pleomorphic sarcoma (STS cohort), in TCGA sequencing database with each vertical row representing a single tumor sample. (d) denotes this class of mutations as a putative driver mutation, while (u) denotes this class of mutations as being of unknown functional impact. (D) Positional distribution of mutations in the ATRX gene from the STS cohort from TCGA. Black lollipop markers represent insertion or deletion mutations, while green lollipop markers represent missense mutations. (E) Disease-specific survival for an unirradiated STS cohort, comparing tumors with ATRX genomic alterations (n = 21) and tumors with WT ATRX (n = 87). (F) Disease-specific survival for a STS cohort in which tumors received radiation therapy, comparing tumors with ATRX genomic alterations (n = 20) and tumors with WT ATRX (n = 35). All statistical comparisons for this figure were performed using a log-rank (Mantel-Cox) test.