RAG mediated recombination is the predominant driver of oncogenic rearrangement in ETV6-RUNX1 Acute Lymphoblastic Leukemia (Rearrangement_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. Click on one of the Study IDs below to find out more.

Study ID Study Title Study Type
EGAS00001000058 Cancer Genomics
ID File Type Size Located in Quality Control
EGAF00000065170 srf 9.3 GB
EGAF00000065170 9.3 GB
EGAF00000065171 srf 9.2 GB
EGAF00000065171 9.2 GB
EGAF00000065172 srf 9.3 GB
EGAF00000065172 9.3 GB
EGAF00000065173 srf 9.1 GB
EGAF00000065173 9.1 GB
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EGAF00000065174 9.0 GB
EGAF00000065175 srf 9.1 GB
EGAF00000065175 9.1 GB
EGAF00000065176 srf 9.4 GB
EGAF00000065176 9.4 GB
EGAF00000065177 bam 10.7 GB
EGAF00000065179 bam 25.5 GB
EGAF00000065180 srf 9.9 GB
EGAF00000065180 9.9 GB
EGAF00000065181 srf 9.7 GB
EGAF00000065181 9.7 GB
EGAF00000065182 srf 9.7 GB
EGAF00000065182 9.7 GB
EGAF00000065183 srf 9.6 GB
EGAF00000065183 9.6 GB
EGAF00000065184 srf 9.9 GB
EGAF00000065184 9.9 GB
EGAF00000065185 srf 9.3 GB
EGAF00000065185 9.4 GB
EGAF00000065186 srf 10.5 GB
EGAF00000065186 10.5 GB
EGAF00000065187 bam 15.3 GB
EGAF00000065188 bam 15.8 GB
EGAF00000065189 bam 6.6 GB
EGAF00000065190 bam 6.6 GB
EGAF00000065191 bam 10.3 GB
EGAF00000065192 bam 10.6 GB
EGAF00000065193 srf 14.2 GB
EGAF00000065193 14.2 GB
EGAF00000065194 srf 14.7 GB
EGAF00000065194 14.7 GB
EGAF00000065195 srf 15.1 GB
EGAF00000065195 15.1 GB
EGAF00000065196 srf 15.2 GB
EGAF00000065196 15.2 GB
EGAF00000065197 srf 13.9 GB
EGAF00000065197 13.9 GB
EGAF00000065198 srf 14.7 GB
EGAF00000065198 14.7 GB
EGAF00000065199 srf 14.7 GB
EGAF00000065199 14.7 GB
EGAF00000065200 bam 15.5 GB
EGAF00000065201 bam 14.8 GB
EGAF00000065202 bam 9.7 GB
EGAF00000065203 bam 9.6 GB
EGAF00000065204 srf 10.7 GB
EGAF00000065204 10.7 GB
EGAF00000065205 srf 11.1 GB
EGAF00000065205 11.1 GB
EGAF00000065206 srf 10.9 GB
EGAF00000065206 10.9 GB
EGAF00000065207 srf 11.0 GB
EGAF00000065207 11.0 GB
EGAF00000065208 srf 10.6 GB
EGAF00000065208 10.6 GB
EGAF00000065209 srf 10.7 GB
EGAF00000065209 10.7 GB
EGAF00000065210 srf 11.1 GB
EGAF00000065210 11.1 GB
EGAF00000065211 bam 7.2 GB
EGAF00000065212 bam 7.6 GB
EGAF00000065219 bam 6.0 GB
EGAF00000065220 bam 6.0 GB
EGAF00000065221 bam 5.6 GB
EGAF00000065222 bam 5.7 GB
EGAF00000065223 srf 3.2 GB
EGAF00000065223 3.2 GB
EGAF00000065224 srf 3.2 GB
EGAF00000065224 3.2 GB
EGAF00000065225 srf 3.1 GB
EGAF00000065225 3.1 GB
EGAF00000065226 srf 2.8 GB
EGAF00000065226 2.8 GB
EGAF00000065227 srf 3.0 GB
EGAF00000065227 3.0 GB
EGAF00000065228 srf 2.9 GB
EGAF00000065228 2.9 GB
EGAF00000065229 srf 3.1 GB
EGAF00000065229 3.1 GB
EGAF00000065230 srf 2.8 GB
EGAF00000065230 2.8 GB
EGAF00000065231 srf 3.1 GB
EGAF00000065231 3.1 GB
EGAF00000065232 bam 5.0 GB
EGAF00000065233 bam 4.8 GB
EGAF00000065234 bam 8.1 GB
EGAF00000065235 bam 7.8 GB
EGAF00000065236 bam 12.2 GB
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EGAF00000065238 bam 6.4 GB
EGAF00000065239 bam 6.2 GB
EGAF00000065240 bam 2.8 GB
EGAF00000065241 bam 2.9 GB
EGAF00000065242 srf 8.5 GB
EGAF00000065242 8.5 GB
EGAF00000065243 srf 8.0 GB
EGAF00000065243 8.0 GB
EGAF00000065244 srf 8.0 GB
EGAF00000065244 8.0 GB
EGAF00000065245 srf 7.9 GB
EGAF00000065245 7.9 GB
EGAF00000065246 srf 8.2 GB
EGAF00000065246 8.2 GB
EGAF00000065247 srf 8.0 GB
EGAF00000065247 8.1 GB
EGAF00000065248 srf 8.0 GB
EGAF00000065248 8.0 GB
EGAF00000065249 bam 2.8 GB
EGAF00000065250 bam 2.8 GB
EGAF00000065251 bam 8.7 GB
EGAF00000065252 bam 15.8 GB
EGAF00000065255 bam 7.4 GB
EGAF00000065256 bam 3.7 GB
EGAF00000065257 bam 3.6 GB
EGAF00000065258 bam 11.9 GB
EGAF00000065259 bam 10.7 GB
EGAF00000065260 bam 11.1 GB
EGAF00000065261 bam 9.8 GB
EGAF00000065262 bam 1.7 GB
EGAF00000065263 bam 1.8 GB
EGAF00000065264 srf 6.4 GB
EGAF00000065264 6.4 GB
EGAF00000065265 srf 6.4 GB
EGAF00000065265 6.4 GB
EGAF00000065266 srf 6.0 GB
EGAF00000065266 6.0 GB
EGAF00000065267 srf 7.0 GB
EGAF00000065267 7.0 GB
EGAF00000065268 srf 5.7 GB
EGAF00000065268 5.7 GB
EGAF00000065269 srf 6.3 GB
EGAF00000065269 6.3 GB
EGAF00000065270 srf 7.0 GB
EGAF00000065270 7.0 GB
EGAF00000065271 bam 8.7 GB
EGAF00000065272 bam 8.8 GB
EGAF00000065273 bam 16.3 GB
EGAF00000065274 bam 7.0 GB
EGAF00000065275 bam 13.3 GB
EGAF00000065276 bam 14.0 GB
EGAF00000065277 bam 6.7 GB
EGAF00000065279 bam 6.6 GB
EGAF00000065282 bam 21.2 GB
EGAF00000065283 bam 21.3 GB
EGAF00000065284 bam 13.9 GB
EGAF00000065285 bam 14.0 GB
EGAF00000065286 bam 15.4 GB
EGAF00000065287 bam 15.4 GB
EGAF00000065288 bam 3.6 GB
EGAF00000065289 bam 7.7 GB
EGAF00000065290 bam 6.2 GB
EGAF00000065291 bam 1.9 GB
EGAF00000065292 bam 3.1 GB
EGAF00000065293 bam 15.0 GB
EGAF00000065294 bam 6.5 GB
EGAF00000065295 bam 6.6 GB
EGAF00000065303 bam 8.7 GB
EGAF00000065304 bam 8.0 GB
EGAF00000065305 bam 13.4 GB
EGAF00000065306 bam 13.6 GB
EGAF00000065307 bam 13.6 GB
EGAF00000065308 bam 15.5 GB
EGAF00000065311 srf 13.4 GB
EGAF00000065311 13.4 GB
EGAF00000065312 srf 13.5 GB
EGAF00000065312 13.5 GB
EGAF00000065313 srf 13.4 GB
EGAF00000065313 13.4 GB
EGAF00000065314 srf 13.4 GB
EGAF00000065314 13.4 GB
EGAF00000065315 srf 13.6 GB
EGAF00000065315 13.6 GB
EGAF00000065316 srf 13.4 GB
EGAF00000065316 13.4 GB
EGAF00000065317 srf 13.5 GB
EGAF00000065317 13.5 GB
EGAF00000065318 bam 16.5 GB
EGAF00000065319 bam 16.5 GB
EGAF00000065320 bam 4.5 GB
EGAF00000065321 bam 4.5 GB
EGAF00000065322 bam 7.8 GB
EGAF00000065323 bam 9.9 GB
EGAF00000065324 bam 10.1 GB
EGAF00000065325 bam 10.8 GB
EGAF00000065326 bam 11.6 GB
EGAF00000065327 bam 5.4 GB
EGAF00000065328 bam 9.8 GB
EGAF00000065329 bam 6.0 GB
EGAF00000065330 srf 12.5 GB
EGAF00000065330 12.5 GB
EGAF00000065331 srf 13.5 GB
EGAF00000065331 13.6 GB
EGAF00000065332 srf 13.5 GB
EGAF00000065332 13.5 GB
EGAF00000065333 srf 14.0 GB
EGAF00000065333 14.0 GB
EGAF00000065334 srf 13.7 GB
EGAF00000065334 13.7 GB
EGAF00000065335 srf 13.4 GB
EGAF00000065335 13.4 GB
EGAF00000065336 srf 13.6 GB
EGAF00000065336 13.6 GB
EGAF00000065338 bam 8.4 GB
EGAF00000065339 bam 9.7 GB
EGAF00000065340 bam 6.1 GB
EGAF00000065341 bam 6.2 GB
EGAF00000095990 bam 28.5 GB
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