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RAG mediated recombination is the predominant driver of oncogenic rearrangement in ETV6-RUNX1 Acute Lymphoblastic Leukemia (Whole_exome_sequencing_data)

The ETV6-RUNX1 fusion gene, found in 25% of childhood acute lymphoblastic leukemia (ALL), is acquired in utero but requires additional somatic mutations for overt leukemia. We used exome and low-coverage whole-genome sequencing to characterize the critical secondary events associated with leukemic transformation. RAG-mediated deletions emerge as the dominant mutational process, accounting for at least 43% of genomic rearrangements and characterized by the presence of recombination signal sequence motifs near the breakpoints; incorporation of non-templated sequence at the junction and a ten-fold enrichment at promoters and enhancers of genes actively transcribed in early B-lineage development. Single-cell tracking shows that this mechanism is not restricted to one founder cell but is rather active throughout leukemic evolution. Integration of point mutation and rearrangement data identifies recurrent inactivation of ATF7IP and MGA as two new tumor suppressor genes.Thus, a remarkably parsimonious mutational process transforms ETV6-RUNX1 lymphoblasts, striking promoters and enhancers of the genes that normally control B-cell differentiation.

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Studies are experimental investigations of a particular phenomenon, e.g., case-control studies on a particular trait or cancer research projects reporting matching cancer normal genomes from patients.

Study ID Study Title Study Type
EGAS00001000200 Cancer Genomics
EGAS00001000201 Cancer Genomics

This table displays only public information pertaining to the files in the dataset. If you wish to access this dataset, please submit a request. If you already have access to these data files, please consult the download documentation.

ID File Type Size Located in
EGAF00000057060 bam 6.2 GB
EGAF00000057061 bam 6.2 GB
EGAF00000057062 bam 5.2 GB
EGAF00000057063 bam 5.6 GB
EGAF00000057064 bam 4.8 GB
EGAF00000057065 bam 4.3 GB
EGAF00000057066 bam 4.1 GB
EGAF00000057067 bam 4.1 GB
EGAF00000057068 bam 4.3 GB
EGAF00000057069 bam 4.0 GB
EGAF00000057070 bam 3.5 GB
EGAF00000057071 bam 4.6 GB
EGAF00000057072 bam 2.5 GB
EGAF00000057073 bam 2.5 GB
EGAF00000057074 bam 6.2 GB
EGAF00000057075 bam 6.2 GB
EGAF00000057076 bam 4.6 GB
EGAF00000057077 bam 4.8 GB
EGAF00000057078 bam 4.3 GB
EGAF00000057079 bam 4.4 GB
EGAF00000057080 bam 4.1 GB
EGAF00000057081 bam 3.9 GB
EGAF00000057082 bam 5.2 GB
EGAF00000057083 bam 5.4 GB
EGAF00000057084 bam 5.2 GB
EGAF00000057085 bam 4.8 GB
EGAF00000057086 bam 6.3 GB
EGAF00000057087 bam 4.5 GB
EGAF00000057088 bam 7.8 GB
EGAF00000057089 bam 7.7 GB
EGAF00000057090 bam 4.3 GB
EGAF00000057091 bam 4.4 GB
EGAF00000057092 bam 3.0 GB
EGAF00000057093 bam 5.2 GB
EGAF00000057094 bam 3.8 GB
EGAF00000057095 bam 5.1 GB
EGAF00000057096 bam 4.0 GB
EGAF00000057097 bam 3.7 GB
EGAF00000057098 bam 6.2 GB
EGAF00000057099 bam 6.2 GB
EGAF00000057100 bam 4.2 GB
EGAF00000057101 bam 4.2 GB
EGAF00000057102 bam 4.7 GB
EGAF00000057103 bam 5.5 GB
EGAF00000057104 bam 5.4 GB
EGAF00000057105 bam 5.6 GB
EGAF00000057106 bam 4.3 GB
EGAF00000057107 bam 4.5 GB
EGAF00000057108 bam 5.5 GB
EGAF00000057109 bam 7.3 GB
EGAF00000057110 bam 5.0 GB
EGAF00000057111 bam 5.1 GB
EGAF00000057112 bam 4.5 GB
EGAF00000057113 bam 4.9 GB
EGAF00000057114 bam 4.8 GB
EGAF00000057115 bam 3.8 GB
EGAF00000057116 bam 4.3 GB
EGAF00000057117 bam 4.3 GB
EGAF00000057118 bam 4.2 GB
EGAF00000057119 bam 4.9 GB
EGAF00000057120 bam 4.4 GB
EGAF00000057121 bam 4.6 GB
EGAF00000057122 bam 4.0 GB
EGAF00000057123 bam 4.6 GB
EGAF00000057124 bam 2.9 GB
EGAF00000057125 bam 2.8 GB
EGAF00000057126 bam 3.4 GB
EGAF00000057127 bam 3.7 GB
EGAF00000057128 bam 3.9 GB
EGAF00000057129 bam 4.0 GB
EGAF00000057130 bam 5.4 GB
EGAF00000057131 bam 5.1 GB
EGAF00000057132 bam 3.6 GB
EGAF00000057133 bam 3.8 GB
EGAF00000057134 bam 5.9 GB
EGAF00000057135 bam 5.9 GB
EGAF00000057136 bam 4.8 GB
EGAF00000057137 bam 5.4 GB
EGAF00000057138 bam 4.1 GB
EGAF00000057139 bam 4.1 GB
EGAF00000057140 bam 4.7 GB
EGAF00000057141 bam 4.8 GB
EGAF00000057142 bam 5.5 GB
EGAF00000057143 bam 5.4 GB
EGAF00000057144 bam 6.3 GB
EGAF00000057145 bam 6.4 GB
EGAF00000057146 bam 4.1 GB
EGAF00000057147 bam 4.1 GB
EGAF00000057148 bam 4.0 GB
EGAF00000057149 bam 4.1 GB
EGAF00000057150 bam 4.5 GB
EGAF00000057151 bam 5.7 GB
EGAF00000057152 bam 5.9 GB
EGAF00000057153 bam 6.0 GB
EGAF00000057154 bam 4.0 GB
EGAF00000057155 bam 3.9 GB
EGAF00000057156 bam 4.9 GB
EGAF00000057157 bam 3.7 GB
EGAF00000057158 bam 4.5 GB
EGAF00000057159 bam 4.3 GB
EGAF00000057160 bam 4.1 GB
EGAF00000057161 bam 4.6 GB
EGAF00000057162 bam 3.7 GB
EGAF00000057163 bam 3.7 GB
EGAF00000057164 bam 3.9 GB
EGAF00000057165 bam 4.3 GB
EGAF00000057166 bam 4.3 GB
EGAF00000057167 bam 4.3 GB
EGAF00000057168 bam 5.5 GB
EGAF00000057169 bam 5.0 GB
EGAF00000057170 bam 5.6 GB
EGAF00000057171 bam 5.3 GB
EGAF00000057172 bam 4.2 GB
EGAF00000057173 bam 4.2 GB
EGAF00000057174 bam 4.5 GB
EGAF00000057175 bam 4.4 GB
EGAF00000057176 bam 5.6 GB
EGAF00000057177 bam 5.5 GB
EGAF00000057178 bam 5.2 GB
EGAF00000057179 bam 9.2 GB
EGAF00000057180 bam 4.1 GB
EGAF00000057181 bam 3.9 GB
EGAF00000057182 bam 6.1 GB
EGAF00000057183 bam 5.8 GB
EGAF00000057184 bam 4.6 GB
EGAF00000057185 bam 4.6 GB
EGAF00000057186 bam 4.7 GB
EGAF00000057187 bam 5.3 GB
EGAF00000057188 bam 3.0 GB
EGAF00000057189 bam 3.0 GB
EGAF00000057190 bam 5.3 GB
EGAF00000057191 bam 4.9 GB
EGAF00000057192 bam 5.0 GB
EGAF00000057193 bam 4.8 GB
EGAF00000057194 bam 5.8 GB
EGAF00000057195 bam 6.3 GB
EGAF00000057196 bam 4.7 GB
EGAF00000057197 bam 4.7 GB
EGAF00000057198 bam 4.0 GB
EGAF00000057199 bam 4.0 GB
EGAF00000057200 bam 6.7 GB
EGAF00000057201 bam 6.7 GB
EGAF00000057202 bam 3.9 GB
EGAF00000057203 bam 4.0 GB
EGAF00000057204 bam 6.2 GB
EGAF00000057205 bam 6.2 GB
EGAF00000057206 bam 4.1 GB
EGAF00000057207 bam 4.0 GB
EGAF00000057208 bam 7.3 GB
EGAF00000057209 bam 7.4 GB
EGAF00000057210 bam 4.4 GB
EGAF00000057211 bam 4.5 GB
EGAF00000057212 bam 4.1 GB
EGAF00000057213 bam 2.9 GB
EGAF00000057214 bam 5.4 GB
EGAF00000057215 bam 5.0 GB
EGAF00000057216 bam 4.5 GB
EGAF00000057217 bam 4.0 GB
EGAF00000057218 bam 4.9 GB
EGAF00000057219 bam 4.6 GB
EGAF00000057220 bam 6.3 GB
EGAF00000057221 bam 6.2 GB
EGAF00000057222 bam 5.1 GB
EGAF00000057223 bam 4.3 GB
EGAF00000057224 bam 5.3 GB
EGAF00000057225 bam 4.1 GB
EGAF00000057226 bam 5.1 GB
EGAF00000057227 bam 5.4 GB
EGAF00000057228 bam 4.8 GB
EGAF00000057229 bam 4.8 GB
EGAF00000057230 bam 4.2 GB
EGAF00000057231 bam 4.3 GB
EGAF00000057232 bam 4.9 GB
EGAF00000057233 bam 4.8 GB
EGAF00000057234 bam 4.5 GB
EGAF00000057235 bam 4.9 GB
EGAF00000057236 bam 5.8 GB
EGAF00000057237 bam 5.7 GB
EGAF00000057238 bam 4.5 GB
EGAF00000057239 bam 4.6 GB
EGAF00000057240 bam 4.8 GB
EGAF00000057241 bam 4.6 GB
EGAF00000057242 bam 7.2 GB
EGAF00000057243 bam 7.7 GB
EGAF00000057244 bam 5.4 GB
EGAF00000057245 bam 4.6 GB
EGAF00000057246 bam 5.5 GB
EGAF00000057247 bam 3.7 GB
EGAF00000057248 bam 3.7 GB
EGAF00000057249 bam 3.8 GB
EGAF00000057250 bam 4.2 GB
EGAF00000057251 bam 6.3 GB
EGAF00000057252 bam 6.5 GB
EGAF00000057253 bam 6.3 GB
EGAF00000057254 bam 7.3 GB
EGAF00000057371 bam 3.5 GB
EGAF00000057372 bam 3.1 GB
EGAF00000057373 bam 2.7 GB
EGAF00000057374 bam 3.3 GB
EGAF00000057375 bam 2.2 GB
EGAF00000057376 bam 3.1 GB
EGAF00000057377 bam 2.2 GB
EGAF00000057378 bam 3.3 GB
EGAF00000057379 bam 3.1 GB
EGAF00000057380 bam 3.8 GB
EGAF00000057381 bam 2.7 GB
EGAF00000057382 bam 4.1 GB
EGAF00000057383 bam 1.6 GB
EGAF00000057384 bam 3.0 GB
EGAF00000057385 bam 2.7 GB
EGAF00000057386 bam 2.7 GB
EGAF00000057387 bam 3.8 GB
EGAF00000057388 bam 3.2 GB
EGAF00000057389 bam 3.1 GB
EGAF00000057390 bam 3.1 GB
EGAF00000057391 bam 3.6 GB
EGAF00000057392 bam 2.4 GB
EGAF00000057393 bam 2.3 GB
EGAF00000057394 bam 3.6 GB
EGAF00000057395 bam 3.7 GB
EGAF00000057396 bam 3.1 GB
EGAF00000057397 bam 3.8 GB
EGAF00000057398 bam 3.1 GB
EGAF00000057399 bam 2.9 GB
EGAF00000057400 bam 3.3 GB
EGAF00000057401 bam 2.0 GB
EGAF00000057402 bam 4.1 GB
EGAF00000057403 bam 3.2 GB
EGAF00000057404 bam 2.7 GB
EGAF00000057405 bam 3.0 GB
EGAF00000057406 bam 2.3 GB
EGAF00000057407 bam 3.7 GB
EGAF00000057408 bam 2.6 GB
EGAF00000057409 bam 3.2 GB
EGAF00000057410 bam 3.6 GB
235 Files (1.1 TB)