Visualization of regulatory element with DNMs in transcripts



Visualization of de novo variants in transcripts


Visualization of original de novo CNV set
   There is no corresponding data published yet, we will update it when such data available.

Transcripts
Transcript ID Transcript exon region Coding exon region
ENST00000351578 [[39105337, 39107567], [39108332, 39108364], [39110457, 39110491], [39118975, 39119138], [39119636, 39119736], [39122437, 39122504], [39124354, 39124380], [39127842, 39127909], [39130691, 39130714], [39134309, 39134451], [39134956, 39135116], [39137701, 39137822], [39138758, 39138793], [39139334, 39139354], [39141196, 39141243], [39153549, 39153706], [39201927, 39203089], [39219544, 39219708]] [[39107544, 39107567], [39108332, 39108364], [39110457, 39110491], [39118975, 39119138], [39119636, 39119736], [39122437, 39122504], [39124354, 39124380], [39127842, 39127909], [39130691, 39130714], [39134309, 39134451], [39134956, 39135116], [39137701, 39137822], [39138758, 39138793], [39139334, 39139354], [39141196, 39141243], [39153549, 39153706], [39201927, 39203062]]
ENST00000515010 [[39107385, 39107567], [39108332, 39108364], [39110457, 39110491], [39118975, 39119138], [39119636, 39119736], [39122437, 39122504], [39124354, 39124380], [39127842, 39127909], [39130691, 39130714], [39134309, 39134451], [39134956, 39135116], [39137701, 39137822], [39138758, 39138793], [39139334, 39139354], [39141196, 39141243], [39153549, 39153706], [39201927, 39203129]] [[39107544, 39107567], [39108332, 39108364], [39110457, 39110491], [39118975, 39119138], [39119636, 39119736], [39122437, 39122504], [39124354, 39124380], [39127842, 39127909], [39130691, 39130714], [39134309, 39134451], [39134956, 39135116], [39137701, 39137822], [39138758, 39138793], [39139334, 39139354], [39141196, 39141243], [39153549, 39153706], [39201927, 39203062]]
ENST00000505428 [[39107403, 39107567], [39108332, 39108364], [39110457, 39110491], [39118975, 39119138], [39119636, 39119736], [39122437, 39122504], [39124354, 39124380], [39126099, 39126237], [39127842, 39127909], [39130691, 39130714], [39134309, 39134451], [39134956, 39135116], [39137701, 39137822], [39138758, 39138793], [39139334, 39139354], [39141196, 39141243], [39153549, 39153706], [39201927, 39203089], [39219544, 39219675]] [[39107544, 39107567], [39108332, 39108364], [39110457, 39110491], [39118975, 39119138], [39119636, 39119736], [39122437, 39122504], [39124354, 39124380], [39126099, 39126237], [39127842, 39127909], [39130691, 39130714], [39134309, 39134451], [39134956, 39135116], [39137701, 39137822], [39138758, 39138793], [39139334, 39139354], [39141196, 39141243], [39153549, 39153706], [39201927, 39203062]]
ENST00000512982 [[39107403, 39107567], [39108332, 39108364], [39110457, 39110491], [39118975, 39119138], [39119636, 39119736], [39122437, 39122504], [39124354, 39124380], [39126099, 39126237], [39127842, 39127909], [39130691, 39130714], [39134309, 39134451], [39134956, 39135116], [39137701, 39137822], [39138758, 39138793], [39139334, 39139354], [39141196, 39141243], [39153549, 39153706], [39201927, 39203089], [39270670, 39270759]] [[39107544, 39107567], [39108332, 39108364], [39110457, 39110491], [39118975, 39119138], [39119636, 39119736], [39122437, 39122504], [39124354, 39124380], [39126099, 39126237], [39127842, 39127909], [39130691, 39130714], [39134309, 39134451], [39134956, 39135116], [39137701, 39137822], [39138758, 39138793], [39139334, 39139354], [39141196, 39141243], [39153549, 39153706], [39201927, 39203062]]
ENST00000540520 [[39107403, 39107567], [39108332, 39108364], [39110457, 39110491], [39118975, 39119138], [39119636, 39119736], [39122437, 39122504], [39124354, 39124380], [39126099, 39126237], [39127842, 39127909], [39130691, 39130714], [39134309, 39134451], [39134956, 39135116], [39137701, 39137822], [39138758, 39138793], [39139334, 39139354], [39141196, 39141243], [39153549, 39153706], [39201927, 39203089], [39270670, 39270759]] [[39107544, 39107567], [39108332, 39108364], [39110457, 39110491], [39118975, 39119138], [39119636, 39119736], [39122437, 39122504], [39124354, 39124380], [39126099, 39126237], [39127842, 39127909], [39130691, 39130714], [39134309, 39134451], [39134956, 39135116], [39137701, 39137822], [39138758, 39138793], [39139334, 39139354], [39141196, 39141243], [39153549, 39153706], [39201927, 39203089], [39270670, 39270673]]
ENST00000510188 [[39202539, 39203089], [39274504, 39274630]] [[39202539, 39203062]]
ENST00000512138 [[39202718, 39203089], [39250772, 39250908], [39270670, 39270746]] [[39202718, 39203062]]
ENST00000506557 [[39202875, 39203089], [39212779, 39213119], [39219544, 39219678]] [[39202999, 39203062]]
ENST00000509072 [[39202995, 39203089], [39211159, 39211193], [39212779, 39213119], [39219544, 39219665]] [[39202995, 39203062]]
ENST00000504542 [[39203057, 39203089], [39208965, 39209066], [39212779, 39213119], [39219544, 39219665]] [[39203057, 39203062]]
ENST00000503065 [[39269746, 39269921], [39270670, 39270930], [39274504, 39274574]] None
Promoter
Chrom Start End Description
chr5 39202982 39202991 CAGE_peak_9_at_FYB_5end
chr5 39203093 39203130 CAGE_peak_2_at_FYB_5end
chr5 39203138 39203175 CAGE_peak_4_at_FYB_5end
chr5 39219641 39219683 CAGE_peak_1_at_FYB_5end
chr5 39219705 39219721 CAGE_peak_5_at_FYB_5end
chr5 39270725 39270771 CAGE_peak_3_at_FYB_5end
chr5 39270774 39270791 CAGE_peak_8_at_FYB_5end
chr5 39274551 39274579 CAGE_peak_6_at_FYB_5end
chr5 39274617 39274636 CAGE_peak_7_at_FYB_5end
chr5 39274655 39274666 CAGE_peak_12_at_FYB_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr5 GH05I039207 39207349 39216178 1.24 [{'connected_gene': 'FYB1', 'score': 19.55}, {'connected_gene': 'RICTOR', 'score': 11.13}, {'connected_gene': 'OSMR', 'score': 5.04}, {'connected_gene': 'GC05P039191', 'score': 0.37}]
chr5 GH05I039157 39157718 39159038 1.52 [{'connected_gene': 'FYB1', 'score': 17.71}, {'connected_gene': 'RICTOR', 'score': 11.36}, {'connected_gene': 'DAB2', 'score': 10.51}, {'connected_gene': 'GOLGA5P1', 'score': 0.39}, {'connected_gene': 'GC05M039106', 'score': 0.23}]
chr5 GH05I039163 39163794 39165499 1.26 [{'connected_gene': 'FYB1', 'score': 18.8}, {'connected_gene': 'RICTOR', 'score': 11.34}, {'connected_gene': 'DAB2', 'score': 10.51}, {'connected_gene': 'GOLGA5P1', 'score': 0.44}, {'connected_gene': 'GC05M039106', 'score': 0.22}]
chr5 GH05I039159 39159434 39162225 0.46 [{'connected_gene': 'FYB1', 'score': 18.37}, {'connected_gene': 'RICTOR', 'score': 11.35}, {'connected_gene': 'DAB2', 'score': 10.51}, {'connected_gene': 'GOLGA5P1', 'score': 0.44}, {'connected_gene': 'GC05M039106', 'score': 0.22}]
chr5 GH05I039146 39146020 39147901 0.43 [{'connected_gene': 'FYB1', 'score': 11.84}, {'connected_gene': 'RICTOR', 'score': 10.94}, {'connected_gene': 'GOLGA5P1', 'score': 0.34}, {'connected_gene': 'GC05M039106', 'score': 0.26}]
chr5 GH05I039173 39173683 39181090 1.55 [{'connected_gene': 'FYB1', 'score': 23.19}, {'connected_gene': 'RICTOR', 'score': 4.61}, {'connected_gene': 'GOLGA5P1', 'score': 0.44}, {'connected_gene': 'GC05P039191', 'score': 0.39}]
chr5 GH05I039148 39148401 39149703 1.07 [{'connected_gene': 'FYB1', 'score': 11.38}, {'connected_gene': 'RICTOR', 'score': 10.94}, {'connected_gene': 'GOLGA5P1', 'score': 0.34}, {'connected_gene': 'GC05M039106', 'score': 0.26}]
chr5 GH05I039216 39216580 39220437 2.07 [{'connected_gene': 'FYB1', 'score': 562.65}, {'connected_gene': 'RICTOR', 'score': 15.91}, {'connected_gene': 'GC05P039191', 'score': 0.31}]
chr5 GH05I039092 39092068 39094248 1.03 [{'connected_gene': 'FYB1', 'score': 10.06}, {'connected_gene': 'RICTOR', 'score': 7.22}, {'connected_gene': 'GC05M039106', 'score': 0.39}]
chr5 GH05I039268 39268401 39271000 1.36 [{'connected_gene': 'FYB1', 'score': 550.77}, {'connected_gene': 'C9', 'score': 14.64}, {'connected_gene': 'RICTOR', 'score': 9.95}, {'connected_gene': 'DAB2', 'score': 9.21}, {'connected_gene': 'GC05P039191', 'score': 0.18}]
chr5 GH05I039249 39249864 39250211 0.68 [{'connected_gene': 'FYB1', 'score': 5.72}, {'connected_gene': 'C9', 'score': 4.99}, {'connected_gene': 'RICTOR', 'score': 1.41}, {'connected_gene': 'GC05P039191', 'score': 0.22}]
chr5 GH05I039185 39185184 39205845 2.69 [{'connected_gene': 'FYB1', 'score': 569.26}, {'connected_gene': 'C9', 'score': 9.73}, {'connected_gene': 'DAB2', 'score': 9.72}, {'connected_gene': 'RICTOR', 'score': 4.33}, {'connected_gene': 'GC05P039191', 'score': 0.77}]
chr5 GH05I039238 39238601 39239000 0.51 [{'connected_gene': 'FYB1', 'score': 11.87}, {'connected_gene': 'C9', 'score': 9.61}, {'connected_gene': 'DAB2', 'score': 9.6}, {'connected_gene': 'GC05P039191', 'score': 0.25}]
chr5 GH05I039284 39283201 39283401 0.68 [{'connected_gene': 'FYB1', 'score': 0.44}, {'connected_gene': 'C9', 'score': 0.11}]
chr5 GH05I039272 39272722 39275925 1.3 [{'connected_gene': 'FYB1', 'score': 550.77}, {'connected_gene': 'C9', 'score': 5.43}, {'connected_gene': 'GC05P039191', 'score': 0.18}]
chr5 GH05I039231 39231175 39232463 0.91 [{'connected_gene': 'FYB1', 'score': 11.71}, {'connected_gene': 'C9', 'score': 5.63}, {'connected_gene': 'GC05P039191', 'score': 0.28}]
chr5 GH05I039167 39167279 39167800 1.24 [{'connected_gene': 'FYB1', 'score': 17.78}, {'connected_gene': 'LINC01265', 'score': 17.76}, {'connected_gene': 'LIFR', 'score': 12.96}, {'connected_gene': 'OSMR', 'score': 11.45}, {'connected_gene': 'GOLGA5P1', 'score': 0.77}, {'connected_gene': 'GC05M039106', 'score': 0.21}]
chr5 GH05I039107 39107757 39110291 0.38 [{'connected_gene': 'FYB1', 'score': 9.9}, {'connected_gene': 'GC05M039106', 'score': 0.77}, {'connected_gene': 'GOLGA5P1', 'score': 0.21}]
chr5 GH05I039110 39110309 39111717 0.2 [{'connected_gene': 'FYB1', 'score': 9.9}, {'connected_gene': 'GC05M039106', 'score': 0.44}, {'connected_gene': 'GOLGA5P1', 'score': 0.22}]
chr5 GH05I039141 39141724 39144843 0.43 [{'connected_gene': 'FYB1', 'score': 10.33}, {'connected_gene': 'GOLGA5P1', 'score': 0.31}, {'connected_gene': 'GC05M039106', 'score': 0.28}]
chr5 GH05I039181 39181472 39184022 0.51 [{'connected_gene': 'FYB1', 'score': 16.79}, {'connected_gene': 'GC05P039191', 'score': 0.44}, {'connected_gene': 'GOLGA5P1', 'score': 0.39}]
chr5 GH05I039128 39128048 39135370 0.57 [{'connected_gene': 'FYB1', 'score': 10.2}, {'connected_gene': 'GC05M039106', 'score': 0.31}, {'connected_gene': 'GOLGA5P1', 'score': 0.28}]
chr5 GH05I039271 39271977 39272661 0.72 [{'connected_gene': 'FYB1', 'score': 0.77}, {'connected_gene': 'GC05P039191', 'score': 0.18}]
chr5 GH05I039223 39223601 39225200 1.39 [{'connected_gene': 'FYB1', 'score': 19.09}, {'connected_gene': 'GC05P039191', 'score': 0.29}]
chr5 GH05I039266 39266401 39267200 0.94 [{'connected_gene': 'FYB1', 'score': 0.44}, {'connected_gene': 'GC05P039191', 'score': 0.19}]
chr5 GH05I039227 39227366 39230035 0.38 [{'connected_gene': 'FYB1', 'score': 11.74}, {'connected_gene': 'GC05P039191', 'score': 0.28}]
chr5 GH05I039262 39262801 39263395 0.4 [{'connected_gene': 'FYB1', 'score': 0.39}, {'connected_gene': 'GC05P039191', 'score': 0.19}]
chr5 GH05I039221 39221078 39222499 0.51 [{'connected_gene': 'FYB1', 'score': 12.66}, {'connected_gene': 'GC05P039191', 'score': 0.31}]
chr5 GH05I039072 39072071 39077943 2.62 [{'connected_gene': 'RICTOR', 'score': 589.77}, {'connected_gene': 'FYB1', 'score': 14.94}, {'connected_gene': 'OSMR', 'score': 7.75}, {'connected_gene': 'GC05M039106', 'score': 0.29}]
chr5 GH05I039150 39150328 39156927 0.74 [{'connected_gene': 'RICTOR', 'score': 22.21}, {'connected_gene': 'FYB1', 'score': 17.79}, {'connected_gene': 'DAB2', 'score': 10.51}, {'connected_gene': 'GOLGA5P1', 'score': 0.37}, {'connected_gene': 'GC05M039106', 'score': 0.25}]
chr5 GH05I039099 39099532 39104404 1.4 [{'connected_gene': 'RICTOR', 'score': 11.39}, {'connected_gene': 'FYB1', 'score': 9.73}, {'connected_gene': 'GC05M039106', 'score': 0.77}]
chr5 GH05I039394 39394200 39403428 1.69 [{'connected_gene': 'RICTOR', 'score': 13.36}, {'connected_gene': 'C9', 'score': 12.05}, {'connected_gene': 'DAB2', 'score': 11.95}, {'connected_gene': 'FYB1', 'score': 0.13}]
chr5 GH05I039472 39472959 39473759 0.31 [{'connected_gene': 'C9', 'score': 10.71}, {'connected_gene': 'FYB1', 'score': 9.38}, {'connected_gene': 'DAB2', 'score': 0.39}, {'connected_gene': 'LINC02104', 'score': 0.25}]
chr5 GH05I039475 39475132 39477493 0.4 [{'connected_gene': 'C9', 'score': 10.69}, {'connected_gene': 'FYB1', 'score': 9.38}, {'connected_gene': 'DAB2', 'score': 0.39}, {'connected_gene': 'LINC02104', 'score': 0.26}]
chr5 GH05I039283 39283419 39283588 0.69 [{'connected_gene': 'C9', 'score': 5.57}, {'connected_gene': 'FYB1', 'score': 0.44}]
chr5 GH05I039340 39340076 39343133 0.31 [{'connected_gene': 'C9', 'score': 5.21}, {'connected_gene': 'FYB1', 'score': 0.2}]
chr5 GH05I039251 39251994 39253718 0.52 [{'connected_gene': 'C9', 'score': 7.23}, {'connected_gene': 'FYB1', 'score': 0.34}, {'connected_gene': 'GC05P039191', 'score': 0.21}]
chr5 GH05I039337 39337139 39338073 0.2 [{'connected_gene': 'C9', 'score': 5.2}, {'connected_gene': 'FYB1', 'score': 0.21}]
chr5 GH05I039254 39254887 39257356 1.32 [{'connected_gene': 'C9', 'score': 5.49}, {'connected_gene': 'RICTOR', 'score': 5.35}, {'connected_gene': 'FYB1', 'score': 3.25}, {'connected_gene': 'GC05P039191', 'score': 0.21}]
chr5 GH05I039379 39379819 39379968 0.2 [{'connected_gene': 'C9', 'score': 11.17}, {'connected_gene': 'DAB2', 'score': 11.09}, {'connected_gene': 'FYB1', 'score': 0.14}]
chr5 GH05I039380 39380343 39381669 0.31 [{'connected_gene': 'C9', 'score': 10.75}, {'connected_gene': 'DAB2', 'score': 10.66}, {'connected_gene': 'FYB1', 'score': 0.14}]
chr5 GH05I039364 39364485 39364544 0.93 [{'connected_gene': 'C9', 'score': 550.21}, {'connected_gene': 'DAB2', 'score': 10.38}, {'connected_gene': 'FYB1', 'score': 0.17}]
chr5 GH05I039376 39376379 39376448 0.76 [{'connected_gene': 'C9', 'score': 11.19}, {'connected_gene': 'DAB2', 'score': 11.11}, {'connected_gene': 'FYB1', 'score': 0.15}]
chr5 GH05I039382 39382070 39384152 0.2 [{'connected_gene': 'C9', 'score': 11.31}, {'connected_gene': 'DAB2', 'score': 11.23}, {'connected_gene': 'FYB1', 'score': 9.51}]
chr5 GH05I039390 39390530 39392049 0.2 [{'connected_gene': 'C9', 'score': 11.97}, {'connected_gene': 'DAB2', 'score': 11.87}, {'connected_gene': 'FYB1', 'score': 0.13}]
chr5 GH05I039359 39359516 39362271 0.54 [{'connected_gene': 'C9', 'score': 10.68}, {'connected_gene': 'DAB2', 'score': 10.62}, {'connected_gene': 'FYB1', 'score': 0.17}]
chr5 GH05I039368 39368185 39371633 0.73 [{'connected_gene': 'C9', 'score': 11.07}, {'connected_gene': 'DAB2', 'score': 11.0}, {'connected_gene': 'FYB1', 'score': 0.15}]
chr5 GH05I039330 39330895 39333536 0.38 [{'connected_gene': 'DAB2', 'score': 10.47}, {'connected_gene': 'FYB1', 'score': 9.99}, {'connected_gene': 'C9', 'score': 7.39}]
chr5 GH05I039543 39543229 39544148 1.38 [{'connected_gene': 'DAB2', 'score': 11.29}, {'connected_gene': 'C9', 'score': 11.24}, {'connected_gene': 'FYB1', 'score': 1.3}, {'connected_gene': 'LINC02104', 'score': 0.34}, {'connected_gene': 'CCDC11P1', 'score': 0.31}]
chr5 GH05I039523 39523560 39528235 1.41 [{'connected_gene': 'DAB2', 'score': 11.43}, {'connected_gene': 'C9', 'score': 11.36}, {'connected_gene': 'ENSG00000251189', 'score': 6.21}, {'connected_gene': 'FYB1', 'score': 2.51}, {'connected_gene': 'LINC02104', 'score': 0.44}, {'connected_gene': 'CCDC11P1', 'score': 0.25}]
chr5 GH05I039547 39547377 39548224 1.09 [{'connected_gene': 'DAB2', 'score': 11.47}, {'connected_gene': 'C9', 'score': 11.43}, {'connected_gene': 'FYB1', 'score': 9.38}, {'connected_gene': 'CCDC11P1', 'score': 0.34}, {'connected_gene': 'LINC02104', 'score': 0.31}]
chr5 GH05I039418 39418370 39428197 2.45 [{'connected_gene': 'DAB2', 'score': 561.02}, {'connected_gene': 'C9', 'score': 550.77}, {'connected_gene': 'FYB1', 'score': 0.11}]
chr5 GH05I039412 39412765 39413728 0.77 [{'connected_gene': 'DAB2', 'score': 10.48}, {'connected_gene': 'C9', 'score': 0.39}, {'connected_gene': 'FYB1', 'score': 0.12}]
chr5 GH05I039415 39415107 39417221 0.2 [{'connected_gene': 'DAB2', 'score': 10.94}, {'connected_gene': 'C9', 'score': 0.44}, {'connected_gene': 'FYB1', 'score': 0.11}]
chr5 GH05I039410 39410677 39412496 1.3 [{'connected_gene': 'DAB2', 'score': 10.47}, {'connected_gene': 'C9', 'score': 0.39}, {'connected_gene': 'FYB1', 'score': 0.12}]
chr5 GH05I039404 39404481 39407212 0.31 [{'connected_gene': 'DAB2', 'score': 11.96}, {'connected_gene': 'C9', 'score': 0.37}, {'connected_gene': 'FYB1', 'score': 0.12}]
chr5 GH05I039168 39168776 39172556 0.46 [{'connected_gene': 'GOLGA5P1', 'score': 550.77}, {'connected_gene': 'FYB1', 'score': 21.96}, {'connected_gene': 'C9', 'score': 9.03}, {'connected_gene': 'DAB2', 'score': 9.02}, {'connected_gene': 'GC05P039191', 'score': 0.34}]
chr5 GH05I039137 39137827 39139682 1.01 [{'connected_gene': 'GOLGA5P1', 'score': 0.29}, {'connected_gene': 'GC05M039106', 'score': 0.29}, {'connected_gene': 'FYB1', 'score': 0.12}]
chr5 GH05I039206 39206017 39207320 0.38 [{'connected_gene': 'GC05P039191', 'score': 0.39}, {'connected_gene': 'FYB1', 'score': 0.2}]
chr5 GH05I039125 39125370 39126692 0.31 [{'connected_gene': 'GC05M039106', 'score': 0.34}, {'connected_gene': 'GOLGA5P1', 'score': 0.26}, {'connected_gene': 'FYB1', 'score': 0.11}]
chr5 GH05I039117 39117432 39118637 1.07 [{'connected_gene': 'GC05M039106', 'score': 0.39}, {'connected_gene': 'GOLGA5P1', 'score': 0.23}, {'connected_gene': 'FYB1', 'score': 0.1}]
chr5 GH05I039105 39105939 39106130 0.38 [{'connected_gene': 'GC05M039106', 'score': 550.77}, {'connected_gene': 'GOLGA5P1', 'score': 0.21}, {'connected_gene': 'FYB1', 'score': 0.1}]