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
ENST00000337620 [[26240781, 26241181], [26242590, 26242642], [26245987, 26246130], [26248012, 26248175], [26251281, 26251376], [26251701, 26252976]] [[26242618, 26242642], [26245987, 26246130], [26248012, 26248175], [26251281, 26251376], [26251701, 26251828]]
ENST00000396386 [[26241312, 26241446], [26242590, 26242642], [26245987, 26246130], [26248012, 26248175], [26251281, 26251376], [26251701, 26252971]] [[26242618, 26242642], [26245987, 26246130], [26248012, 26248175], [26251281, 26251376], [26251701, 26251828]]
ENST00000456948 [[26241376, 26242229], [26242590, 26242642], [26245987, 26246130], [26248012, 26248032]] [[26242618, 26242642], [26245987, 26246130], [26248012, 26248032]]
ENST00000409747 [[26241384, 26241446], [26242590, 26242642], [26245987, 26246130], [26248085, 26248175], [26251281, 26251376], [26251701, 26252976]] [[26242618, 26242642], [26245987, 26246130], [26248085, 26248175], [26251281, 26251330]]
ENST00000497498 [[26242082, 26242642], [26245987, 26246130], [26248012, 26248175], [26251281, 26251337]] None
ENST00000481300 [[26245655, 26246130], [26248012, 26248096]] None
ENST00000462165 [[26245987, 26246130], [26248012, 26248175], [26249559, 26250202]] [[26245987, 26246130], [26248012, 26248175], [26249559, 26249577]]
ENST00000481057 [[26247752, 26248175], [26251281, 26251376], [26251701, 26252043]] None
NM_007276 [[26240830, 26241181], [26242590, 26242642], [26245987, 26246130], [26248012, 26248175], [26251281, 26251376], [26251701, 26253227]] [[26242618, 26242642], [26245987, 26246130], [26248012, 26248175], [26251281, 26251376], [26251701, 26251828]]
NM_016587 [[26241323, 26241446], [26242590, 26242642], [26245987, 26246130], [26248012, 26248175], [26251281, 26251376], [26251701, 26253227]] [[26242618, 26242642], [26245987, 26246130], [26248012, 26248175], [26251281, 26251376], [26251701, 26251828]]
Promoter
Chrom Start End Description
chr7 26240776 26240807 CAGE_peak_8_at_CBX3_5end
chr7 26241043 26241102 CAGE_peak_3_at_CBX3_5end
chr7 26241103 26241124 CAGE_peak_6_at_CBX3_5end
chr7 26241127 26241164 CAGE_peak_5_at_CBX3_5end
chr7 26241310 26241324 CAGE_peak_4_at_CBX3_5end
chr7 26241325 26241392 CAGE_peak_1_at_CBX3_5end
chr7 26241393 26241417 CAGE_peak_2_at_CBX3_5end
chr7 26241800 26241833 CAGE_peak_7_at_CBX3_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr7 GH07I026151 26151195 26160925 2.66 [{'connected_gene': 'NFE2L3', 'score': 550.77}, {'connected_gene': 'HNRNPA2B1', 'score': 13.65}, {'connected_gene': 'SNX10', 'score': 13.2}, {'connected_gene': 'CBX3', 'score': 11.88}, {'connected_gene': 'LOC105375304', 'score': 9.82}, {'connected_gene': 'ENSG00000273237', 'score': 9.11}]
chr7 GH07I026078 26078893 26079400 0.98 [{'connected_gene': 'NFE2L3', 'score': 11.3}, {'connected_gene': 'CBX3', 'score': 10.49}, {'connected_gene': 'HNRNPA2B1', 'score': 10.49}, {'connected_gene': 'LOC105375304', 'score': 9.62}, {'connected_gene': 'GC07P026071', 'score': 0.44}, {'connected_gene': 'LOC105375198', 'score': 0.34}, {'connected_gene': 'LOC105375199', 'score': 0.23}]
chr7 GH07I026081 26081091 26082869 0.72 [{'connected_gene': 'NFE2L3', 'score': 11.3}, {'connected_gene': 'CBX3', 'score': 10.49}, {'connected_gene': 'HNRNPA2B1', 'score': 10.49}, {'connected_gene': 'LOC105375304', 'score': 9.62}, {'connected_gene': 'GC07P026071', 'score': 0.39}, {'connected_gene': 'LOC105375198', 'score': 0.37}, {'connected_gene': 'LOC105375199', 'score': 0.25}]
chr7 GH07I026083 26083261 26083570 0.72 [{'connected_gene': 'NFE2L3', 'score': 11.31}, {'connected_gene': 'CBX3', 'score': 10.49}, {'connected_gene': 'HNRNPA2B1', 'score': 10.49}, {'connected_gene': 'LOC105375304', 'score': 9.62}, {'connected_gene': 'GC07P026071', 'score': 0.39}, {'connected_gene': 'LOC105375198', 'score': 0.37}, {'connected_gene': 'LOC105375199', 'score': 0.25}]
chr7 GH07I026086 26086744 26088915 0.31 [{'connected_gene': 'NFE2L3', 'score': 12.21}, {'connected_gene': 'CBX3', 'score': 11.41}, {'connected_gene': 'HNRNPA2B1', 'score': 11.41}, {'connected_gene': 'LOC105375198', 'score': 0.39}, {'connected_gene': 'GC07P026071', 'score': 0.37}, {'connected_gene': 'LOC105375199', 'score': 0.26}]
chr7 GH07I026096 26096770 26098267 0.97 [{'connected_gene': 'NFE2L3', 'score': 11.85}, {'connected_gene': 'CBX3', 'score': 11.41}, {'connected_gene': 'HNRNPA2B1', 'score': 11.41}, {'connected_gene': 'LOC105375198', 'score': 0.77}, {'connected_gene': 'GC07P026071', 'score': 0.31}, {'connected_gene': 'LOC105375199', 'score': 0.29}]
chr7 GH07I026090 26090601 26091471 0.91 [{'connected_gene': 'NFE2L3', 'score': 12.27}, {'connected_gene': 'CBX3', 'score': 11.41}, {'connected_gene': 'HNRNPA2B1', 'score': 11.41}, {'connected_gene': 'LOC105375198', 'score': 0.39}, {'connected_gene': 'GC07P026071', 'score': 0.37}, {'connected_gene': 'LOC105375199', 'score': 0.28}]
chr7 GH07I026180 26180641 26181400 1.52 [{'connected_gene': 'NFE2L3', 'score': 12.16}, {'connected_gene': 'CBX3', 'score': 1.51}, {'connected_gene': 'GC07M026184', 'score': 0.77}, {'connected_gene': 'GC07P026176', 'score': 0.77}]
chr7 GH07I026005 26005265 26008422 0.63 [{'connected_gene': 'MIR148A', 'score': 11.77}, {'connected_gene': 'CBX3', 'score': 9.57}, {'connected_gene': 'HNRNPA2B1', 'score': 9.57}, {'connected_gene': 'NFE2L3', 'score': 4.33}, {'connected_gene': 'PIR39133', 'score': 0.37}, {'connected_gene': 'GC07P025973', 'score': 0.29}, {'connected_gene': 'LOC105375199', 'score': 0.13}]
chr7 GH07I026192 26192461 26192630 0.76 [{'connected_gene': 'HOXA6', 'score': 6.07}, {'connected_gene': 'CBX3', 'score': 0.44}, {'connected_gene': 'GC07M026184', 'score': 0.44}, {'connected_gene': 'HNRNPA2B1', 'score': 0.44}]
chr7 GH07I027095 27095069 27181321 3.41 [{'connected_gene': 'HOXA2', 'score': 576.17}, {'connected_gene': 'HOXA9', 'score': 568.02}, {'connected_gene': 'HOXA10', 'score': 565.55}, {'connected_gene': 'HOXA1', 'score': 562.16}, {'connected_gene': 'HOXA3', 'score': 560.98}, {'connected_gene': 'HOXA6', 'score': 557.72}, {'connected_gene': 'HOXA4', 'score': 553.76}, {'connected_gene': 'HOXA5', 'score': 553.17}, {'connected_gene': 'HOXA7', 'score': 552.7}, {'connected_gene': 'HNRNPA2B1', 'score': 58.04}, {'connected_gene': 'HOTAIRM1', 'score': 43.49}, {'connected_gene': 'HOXA10-AS', 'score': 27.61}, {'connected_gene': 'HOXA-AS2', 'score': 21.16}, {'connected_gene': 'CBX3', 'score': 19.35}, {'connected_gene': 'HOXA11-AS', 'score': 15.79}, {'connected_gene': 'HOXA11', 'score': 14.27}, {'connected_gene': 'SKAP2', 'score': 13.15}, {'connected_gene': 'HOXA13', 'score': 12.76}, {'connected_gene': 'ENSG00000253508', 'score': 11.26}, {'connected_gene': 'HOTTIP', 'score': 11.25}, {'connected_gene': 'LOC105375304', 'score': 10.2}, {'connected_gene': 'KIAA0087', 'score': 9.83}, {'connected_gene': 'HOXA-AS3', 'score': 0.44}, {'connected_gene': 'ENSG00000272801', 'score': 0.39}, {'connected_gene': 'ENSG00000273433', 'score': 0.39}, {'connected_gene': 'LOC105375205', 'score': 0.34}, {'connected_gene': 'ENSG00000270182', 'score': 0.34}, {'connected_gene': 'GC07P027116', 'score': 0.34}, {'connected_gene': 'GC07M027172', 'score': 0.29}, {'connected_gene': 'MIR196B', 'score': 0.29}, {'connected_gene': 'ENSG00000277694', 'score': 0.28}, {'connected_gene': 'ENSG00000274396', 'score': 0.28}, {'connected_gene': 'ENSG00000274864', 'score': 0.28}, {'connected_gene': 'ENSG00000276771', 'score': 0.28}, {'connected_gene': 'ENSG00000257184', 'score': 0.26}, {'connected_gene': 'HOXA10-HOXA9', 'score': 0.26}, {'connected_gene': 'ENSG00000276528', 'score': 0.26}]
chr7 GH07I026089 26089133 26089996 0.84 [{'connected_gene': 'HNRNPA2B1', 'score': 12.56}, {'connected_gene': 'NFE2L3', 'score': 12.21}, {'connected_gene': 'SNX10', 'score': 11.81}, {'connected_gene': 'CBX3', 'score': 11.41}, {'connected_gene': 'LOC105375198', 'score': 0.39}, {'connected_gene': 'GC07P026071', 'score': 0.37}, {'connected_gene': 'LOC105375199', 'score': 0.26}]
chr7 GH07I026186 26186401 26189490 1.31 [{'connected_gene': 'HNRNPA2B1', 'score': 12.2}, {'connected_gene': 'HOXA3', 'score': 10.28}, {'connected_gene': 'ENSG00000273237', 'score': 5.38}, {'connected_gene': 'CBX3', 'score': 4.68}, {'connected_gene': 'GC07M026184', 'score': 0.77}, {'connected_gene': 'NFE2L3', 'score': 0.28}]
chr7 GH07I026195 26195735 26205800 2.52 [{'connected_gene': 'HNRNPA2B1', 'score': 583.89}, {'connected_gene': 'CBX3', 'score': 550.77}, {'connected_gene': 'HOXA3', 'score': 10.28}, {'connected_gene': 'ENSG00000273237', 'score': 4.76}, {'connected_gene': 'GC07M026184', 'score': 0.37}]
chr7 GH07I026316 26316281 26316430 0.4 [{'connected_gene': 'SNX10', 'score': 13.14}, {'connected_gene': 'HNRNPA2B1', 'score': 11.27}, {'connected_gene': 'CBX3', 'score': 11.26}, {'connected_gene': 'LOC105375304', 'score': 0.21}, {'connected_gene': 'GC07P026242', 'score': 0.19}]
chr7 GH07I026291 26291278 26295732 2.48 [{'connected_gene': 'SNX10', 'score': 572.58}, {'connected_gene': 'C7orf71', 'score': 4.23}, {'connected_gene': 'CBX3', 'score': 1.57}, {'connected_gene': 'GC07P026242', 'score': 0.23}, {'connected_gene': 'LOC105375304', 'score': 0.18}]
chr7 GH07I026317 26315401 26315600 0.4 [{'connected_gene': 'SNX10', 'score': 13.14}, {'connected_gene': 'CBX3', 'score': 11.27}, {'connected_gene': 'HNRNPA2B1', 'score': 11.27}, {'connected_gene': 'LOC105375304', 'score': 0.21}, {'connected_gene': 'GC07P026242', 'score': 0.19}]
chr7 GH07I026315 26315801 26316000 0.4 [{'connected_gene': 'SNX10', 'score': 30.15}, {'connected_gene': 'CBX3', 'score': 11.27}, {'connected_gene': 'HNRNPA2B1', 'score': 11.27}, {'connected_gene': 'LOC105375304', 'score': 0.21}, {'connected_gene': 'GC07P026242', 'score': 0.19}]
chr7 GH07I026328 26328860 26331197 1.35 [{'connected_gene': 'SNX10', 'score': 38.5}, {'connected_gene': 'CBX3', 'score': 12.14}, {'connected_gene': 'HNRNPA2B1', 'score': 10.8}, {'connected_gene': 'LOC105375304', 'score': 10.37}, {'connected_gene': 'GC07P026242', 'score': 0.17}]
chr7 GH07I026313 26313402 26315245 1.22 [{'connected_gene': 'SNX10', 'score': 19.53}, {'connected_gene': 'CBX3', 'score': 12.48}, {'connected_gene': 'HNRNPA2B1', 'score': 11.27}, {'connected_gene': 'LOC105375304', 'score': 0.21}, {'connected_gene': 'GC07P026242', 'score': 0.19}]
chr7 GH07I026304 26304170 26308865 1.64 [{'connected_gene': 'SNX10', 'score': 21.95}, {'connected_gene': 'CBX3', 'score': 12.58}, {'connected_gene': 'HNRNPA2B1', 'score': 11.3}, {'connected_gene': 'GC07P026242', 'score': 0.21}, {'connected_gene': 'LOC105375304', 'score': 0.19}]
chr7 GH07I026437 26437463 26437530 0.37 [{'connected_gene': 'C7orf71', 'score': 10.15}, {'connected_gene': 'CBX3', 'score': 1.63}, {'connected_gene': 'LOC105375202', 'score': 0.44}, {'connected_gene': 'LOC441204', 'score': 0.28}, {'connected_gene': 'ENSG00000280255', 'score': 0.15}, {'connected_gene': 'GC07P026242', 'score': 0.08}]
chr7 GH07I026166 26166179 26168297 0.89 [{'connected_gene': 'CBX3', 'score': 11.42}, {'connected_gene': 'HNRNPA2B1', 'score': 11.42}, {'connected_gene': 'ENSG00000273237', 'score': 8.57}, {'connected_gene': 'NFE2L3', 'score': 0.37}]
chr7 GH07I026349 26349612 26350481 0.43 [{'connected_gene': 'CBX3', 'score': 10.73}, {'connected_gene': 'HNRNPA2B1', 'score': 10.73}, {'connected_gene': 'SNX10', 'score': 7.42}, {'connected_gene': 'LOC105375304', 'score': 0.31}, {'connected_gene': 'GC07P026242', 'score': 0.14}]
chr7 GH07I026346 26346361 26347577 0.83 [{'connected_gene': 'CBX3', 'score': 10.97}, {'connected_gene': 'HNRNPA2B1', 'score': 10.97}, {'connected_gene': 'SNX10', 'score': 4.99}, {'connected_gene': 'LOC105375304', 'score': 0.31}, {'connected_gene': 'GC07P026242', 'score': 0.15}]
chr7 GH07I026297 26297164 26299502 0.43 [{'connected_gene': 'CBX3', 'score': 10.83}, {'connected_gene': 'HNRNPA2B1', 'score': 10.83}, {'connected_gene': 'SNX10', 'score': 0.44}, {'connected_gene': 'GC07P026242', 'score': 0.22}, {'connected_gene': 'LOC105375304', 'score': 0.18}]
chr7 GH07I026285 26285181 26285250 0.73 [{'connected_gene': 'CBX3', 'score': 12.27}, {'connected_gene': 'HNRNPA2B1', 'score': 12.27}, {'connected_gene': 'SNX10', 'score': 0.44}, {'connected_gene': 'GC07P026276', 'score': 0.44}, {'connected_gene': 'GC07P026242', 'score': 0.26}]
chr7 GH07I026319 26319401 26319800 0.4 [{'connected_gene': 'CBX3', 'score': 11.12}, {'connected_gene': 'HNRNPA2B1', 'score': 11.12}, {'connected_gene': 'C7orf71', 'score': 10.68}, {'connected_gene': 'SNX10', 'score': 0.31}, {'connected_gene': 'LOC105375304', 'score': 0.22}, {'connected_gene': 'GC07P026242', 'score': 0.18}]
chr7 GH07I026233 26233741 26234705 0.95 [{'connected_gene': 'CBX3', 'score': 11.91}, {'connected_gene': 'HNRNPA2B1', 'score': 11.91}, {'connected_gene': 'C7orf71', 'score': 10.17}, {'connected_gene': 'GC07P026242', 'score': 0.44}, {'connected_gene': 'GC07P026212', 'score': 0.34}, {'connected_gene': 'GC07P026214', 'score': 0.34}]
chr7 GH07I026321 26321610 26321725 0.58 [{'connected_gene': 'CBX3', 'score': 10.8}, {'connected_gene': 'HNRNPA2B1', 'score': 10.8}, {'connected_gene': 'LOC105375304', 'score': 10.35}, {'connected_gene': 'SNX10', 'score': 4.95}, {'connected_gene': 'GC07P026242', 'score': 0.18}]
chr7 GH07I026267 26267215 26268302 0.2 [{'connected_gene': 'CBX3', 'score': 11.14}, {'connected_gene': 'HNRNPA2B1', 'score': 11.14}, {'connected_gene': 'LOC105375304', 'score': 10.79}, {'connected_gene': 'C7orf71', 'score': 9.71}, {'connected_gene': 'RPL23P7', 'score': 0.44}, {'connected_gene': 'PIR51009', 'score': 0.37}, {'connected_gene': 'GC07P026242', 'score': 0.31}]
chr7 GH07I026194 26193510 26195449 0.88 [{'connected_gene': 'CBX3', 'score': 0.44}, {'connected_gene': 'GC07M026184', 'score': 0.44}, {'connected_gene': 'HNRNPA2B1', 'score': 0.44}]
chr7 GH07I026193 26191820 26192387 0.96 [{'connected_gene': 'CBX3', 'score': 0.44}, {'connected_gene': 'GC07M026184', 'score': 0.44}, {'connected_gene': 'HNRNPA2B1', 'score': 0.44}]
chr7 GH07I026191 26191501 26191650 0.38 [{'connected_gene': 'CBX3', 'score': 0.44}, {'connected_gene': 'GC07M026184', 'score': 0.44}, {'connected_gene': 'HNRNPA2B1', 'score': 0.44}]
chr7 GH07I025879 25879380 25882921 1.03 [{'connected_gene': 'CBX3', 'score': 5.25}, {'connected_gene': 'LOC100506236', 'score': 0.37}, {'connected_gene': 'LOC105375200', 'score': 0.21}]
chr7 GH07I026372 26372120 26377750 1.91 [{'connected_gene': 'LOC105375304', 'score': 557.73}, {'connected_gene': 'HNRNPA2B1', 'score': 48.53}, {'connected_gene': 'HOXA10-AS', 'score': 11.98}, {'connected_gene': 'HOXA9', 'score': 11.98}, {'connected_gene': 'CBX3', 'score': 10.86}, {'connected_gene': 'KIAA0087', 'score': 9.89}, {'connected_gene': 'C7orf71', 'score': 9.35}, {'connected_gene': 'SNX10', 'score': 8.07}, {'connected_gene': 'LOC441204', 'score': 4.73}, {'connected_gene': 'GC07P026242', 'score': 0.12}]
chr7 GH07I026347 26347753 26349577 0.84 [{'connected_gene': 'LOC105375304', 'score': 11.93}, {'connected_gene': 'CBX3', 'score': 10.97}, {'connected_gene': 'HNRNPA2B1', 'score': 10.97}, {'connected_gene': 'SNX10', 'score': 5.21}, {'connected_gene': 'GC07P026242', 'score': 0.14}]
chr7 GH07I026185 26185421 26186000 0.88 [{'connected_gene': 'GC07M026184', 'score': 550.77}, {'connected_gene': 'NFE2L3', 'score': 11.97}, {'connected_gene': 'CBX3', 'score': 0.37}]
chr7 GH07I026187 26185181 26185330 0.59 [{'connected_gene': 'GC07M026184', 'score': 550.77}, {'connected_gene': 'NFE2L3', 'score': 11.88}, {'connected_gene': 'CBX3', 'score': 0.37}]
chr7 GH07I026190 26190481 26190630 0.8 [{'connected_gene': 'GC07M026184', 'score': 0.44}, {'connected_gene': 'CBX3', 'score': 0.39}, {'connected_gene': 'HNRNPA2B1', 'score': 0.39}]
chr7 GH07I026210 26210310 26211081 0.38 [{'connected_gene': 'GC07P026212', 'score': 550.77}, {'connected_gene': 'GC07P026214', 'score': 550.77}, {'connected_gene': 'CBX3', 'score': 0.44}, {'connected_gene': 'HNRNPA2B1', 'score': 0.44}]