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
ENST00000383772 [[25215822, 25216066], [25502683, 25502832], [25542672, 25542814], [25611248, 25611409], [25622036, 25622213], [25634993, 25635198], [25636010, 25636169], [25637910, 25637946]] [[25215888, 25216066], [25502683, 25502832], [25542672, 25542814], [25611248, 25611409], [25622036, 25622213], [25634993, 25635198], [25636010, 25636169], [25637910, 25637946]]
ENST00000404969 [[25215888, 25216066], [25502683, 25502832], [25542672, 25542814], [25611248, 25611409], [25622036, 25622213], [25634993, 25635198], [25636010, 25636169], [25637910, 25638107]] [[25215888, 25216066], [25502683, 25502832], [25542672, 25542814], [25611248, 25611409], [25622036, 25622213], [25634993, 25635198], [25636010, 25636169], [25637910, 25638107]]
ENST00000437042 [[25469753, 25470022], [25502683, 25502832], [25542672, 25542814], [25611248, 25611409], [25622036, 25622213], [25634993, 25635198], [25636010, 25636169], [25637910, 25639423]] [[25542702, 25542814], [25611248, 25611409], [25622036, 25622213], [25634993, 25635198], [25636010, 25636169], [25637910, 25638107]]
ENST00000330688 [[25469801, 25470379], [25502683, 25502832], [25542672, 25542814], [25611248, 25611409], [25622036, 25622213], [25634993, 25635198], [25636010, 25636169], [25637910, 25639423]] [[25470222, 25470379], [25502683, 25502832], [25542672, 25542814], [25611248, 25611409], [25622036, 25622213], [25634993, 25635198], [25636010, 25636169], [25637910, 25638107]]
ENST00000479097 [[25470206, 25470379], [25502683, 25502832], [25542672, 25542814], [25622036, 25622213], [25634993, 25635198], [25636010, 25636169], [25637910, 25638140]] None
ENST00000480001 [[25470206, 25470379], [25502683, 25502832], [25542672, 25542814], [25611248, 25611409], [25622036, 25622213], [25636010, 25636169], [25637910, 25638140]] None
ENST00000462272 [[25470206, 25470379], [25502683, 25502832], [25542672, 25542814], [25611248, 25611409], [25622036, 25622213], [25635131, 25635198], [25636010, 25636169], [25637910, 25638140]] None
ENST00000458646 [[25499800, 25499884], [25502683, 25502832], [25542672, 25542814], [25611248, 25611409], [25622036, 25622213], [25634993, 25635198], [25636010, 25636169], [25637910, 25639423]] [[25542702, 25542814], [25611248, 25611409], [25622036, 25622213], [25634993, 25635198], [25636010, 25636169], [25637910, 25638107]]
ENST00000489694 [[25470191, 25470379], [25502683, 25502832], [25503799, 25504036]] None
NM_001290216 [[24870813, 24870894], [24900164, 24900243], [25101615, 25101667], [25215609, 25216066], [25502683, 25502832], [25542672, 25542814], [25611248, 25611409], [25622036, 25622213], [25634993, 25635198], [25636010, 25636169], [25637910, 25639423]] [[25215888, 25216066], [25502683, 25502832], [25542672, 25542814], [25611248, 25611409], [25622036, 25622213], [25634993, 25635198], [25636010, 25636169], [25637910, 25638107]]
NM_001290300 [[25382292, 25382382], [25502683, 25502832], [25542672, 25542814], [25611248, 25611409], [25622036, 25622213], [25634993, 25635198], [25636010, 25636169], [25637910, 25639423]] [[25382354, 25382382], [25502683, 25502832], [25542672, 25542814], [25611248, 25611409], [25622036, 25622213], [25634993, 25635198], [25636010, 25636169], [25637910, 25638107]]
NM_001290266 [[25469753, 25470022], [25502683, 25502832], [25542672, 25542814], [25611248, 25611409], [25622036, 25622213], [25634993, 25635198], [25636010, 25636169], [25637910, 25639423]] [[25470012, 25470022], [25502683, 25502832], [25542672, 25542814], [25611248, 25611409], [25622036, 25622213], [25634993, 25635198], [25636010, 25636169], [25637910, 25638107]]
NM_016152 [[25469753, 25470022], [25502683, 25502832], [25542672, 25542814], [25611248, 25611409], [25622036, 25622213], [25634993, 25635198], [25636010, 25636169], [25637910, 25639423]] [[25542702, 25542814], [25611248, 25611409], [25622036, 25622213], [25634993, 25635198], [25636010, 25636169], [25637910, 25638107]]
NR_110892 [[25469753, 25470379], [25502683, 25502832], [25542672, 25542814], [25622036, 25622213], [25634993, 25635198], [25636010, 25636169], [25637910, 25639423]] None
NR_110893 [[25469753, 25470379], [25502683, 25502832], [25542672, 25542814], [25611248, 25611409], [25622036, 25622213], [25636010, 25636169], [25637910, 25639423]] None
NM_001290277 [[25469753, 25470379], [25502683, 25502832], [25542672, 25542814], [25611248, 25611409], [25622036, 25622213], [25635131, 25635198], [25636010, 25636169], [25637910, 25639423]] [[25470222, 25470379], [25502683, 25502832], [25542672, 25542814], [25611248, 25611409], [25622036, 25622213], [25635131, 25635198], [25636010, 25636169], [25637910, 25638107]]
NM_001290276 [[25469753, 25470379], [25502683, 25502832], [25542672, 25542814], [25611248, 25611409], [25622036, 25622213], [25634993, 25635198], [25636010, 25636169], [25637910, 25639423]] [[25542702, 25542814], [25611248, 25611409], [25622036, 25622213], [25634993, 25635198], [25636010, 25636169], [25637910, 25638107]]
NM_000965 [[25469753, 25470379], [25502683, 25502832], [25542672, 25542814], [25611248, 25611409], [25622036, 25622213], [25634993, 25635198], [25636010, 25636169], [25637910, 25639423]] [[25470222, 25470379], [25502683, 25502832], [25542672, 25542814], [25611248, 25611409], [25622036, 25622213], [25634993, 25635198], [25636010, 25636169], [25637910, 25638107]]
NM_001290217 [[25499800, 25499884], [25502683, 25502832], [25542672, 25542814], [25611248, 25611409], [25622036, 25622213], [25634993, 25635198], [25636010, 25636169], [25637910, 25639423]] [[25542702, 25542814], [25611248, 25611409], [25622036, 25622213], [25634993, 25635198], [25636010, 25636169], [25637910, 25638107]]
Promoter
Chrom Start End Description
chr3 25469653 25469667 CAGE_peak_9_at_RARB_5end
chr3 25469669 25469691 CAGE_peak_6_at_RARB_5end
chr3 25469724 25469773 CAGE_peak_1_at_RARB_5end
chr3 25469815 25469866 CAGE_peak_3_at_RARB_5end
chr3 25469875 25469893 CAGE_peak_5_at_RARB_5end
chr3 25470062 25470084 CAGE_peak_4_at_RARB_5end
chr3 25470156 25470227 CAGE_peak_2_at_RARB_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr3 GH03I025588 25588449 25589986 0.57 [{'connected_gene': 'TOP2B', 'score': 7.03}, {'connected_gene': 'ENSG00000275227', 'score': 0.31}, {'connected_gene': 'ENSG00000272166', 'score': 0.29}, {'connected_gene': 'RARB', 'score': 0.05}]
chr3 GH03I025594 25594000 25594401 1.03 [{'connected_gene': 'TOP2B', 'score': 6.3}, {'connected_gene': 'ENSG00000275227', 'score': 0.34}, {'connected_gene': 'ENSG00000272166', 'score': 0.28}, {'connected_gene': 'RARB', 'score': 0.05}]
chr3 GH03I025425 25425945 25432800 2.34 [{'connected_gene': 'RARB', 'score': 550.07}, {'connected_gene': 'ENSG00000229421', 'score': 0.39}, {'connected_gene': 'LOC105376997', 'score': 0.26}]
chr3 GH03I025150 25150394 25152622 0.63 [{'connected_gene': 'RARB', 'score': 11.78}, {'connected_gene': 'GC03M025149', 'score': 0.77}, {'connected_gene': 'GC03P025103', 'score': 0.25}, {'connected_gene': 'ENSG00000237838', 'score': 0.04}]
chr3 GH03I025457 25457081 25459041 1.53 [{'connected_gene': 'RARB', 'score': 550.06}, {'connected_gene': 'ENSG00000229421', 'score': 0.37}, {'connected_gene': 'GC03M025516', 'score': 0.21}]
chr3 GH03I025467 25467470 25467529 0.7 [{'connected_gene': 'RARB', 'score': 550.06}, {'connected_gene': 'ENSG00000229421', 'score': 0.31}, {'connected_gene': 'GC03M025516', 'score': 0.23}]
chr3 GH03I025171 25171072 25171630 0.49 [{'connected_gene': 'RARB', 'score': 0.77}, {'connected_gene': 'GC03M025149', 'score': 0.37}, {'connected_gene': 'ENSG00000237838', 'score': 0.04}]
chr3 GH03I025281 25281341 25281676 0.66 [{'connected_gene': 'LOC105376998', 'score': 0.31}, {'connected_gene': 'CFL1P7', 'score': 0.26}, {'connected_gene': 'RARB', 'score': 0.14}]
chr3 GH03I025410 25410210 25413028 0.54 [{'connected_gene': 'LOC105376997', 'score': 0.31}, {'connected_gene': 'ENSG00000229421', 'score': 0.31}, {'connected_gene': 'RARB', 'score': 0.07}]
chr3 GH03I025375 25375839 25377433 0.38 [{'connected_gene': 'LOC105376997', 'score': 0.44}, {'connected_gene': 'GC03M025352', 'score': 0.34}, {'connected_gene': 'RNA5SP126', 'score': 0.34}, {'connected_gene': 'RARB', 'score': 0.08}]
chr3 GH03I025378 25378161 25380037 0.52 [{'connected_gene': 'LOC105376997', 'score': 0.44}, {'connected_gene': 'GC03M025352', 'score': 0.31}, {'connected_gene': 'RNA5SP126', 'score': 0.31}, {'connected_gene': 'RARB', 'score': 0.08}]
chr3 GH03I025291 25291605 25291816 0.63 [{'connected_gene': 'CFL1P7', 'score': 0.29}, {'connected_gene': 'LOC105376998', 'score': 0.28}, {'connected_gene': 'RARB', 'score': 0.13}]
chr3 GH03I025318 25318243 25318637 0.51 [{'connected_gene': 'CFL1P7', 'score': 0.44}, {'connected_gene': 'LOC105376998', 'score': 0.21}, {'connected_gene': 'RARB', 'score': 0.11}]
chr3 GH03I025293 25293810 25293999 0.31 [{'connected_gene': 'CFL1P7', 'score': 0.29}, {'connected_gene': 'LOC105376998', 'score': 0.28}, {'connected_gene': 'RARB', 'score': 0.13}]
chr3 GH03I025292 25292648 25293713 0.31 [{'connected_gene': 'CFL1P7', 'score': 0.29}, {'connected_gene': 'LOC105376998', 'score': 0.28}, {'connected_gene': 'RARB', 'score': 0.13}]
chr3 GH03I025448 25448696 25450316 1.19 [{'connected_gene': 'ENSG00000229421', 'score': 0.44}, {'connected_gene': 'GC03M025516', 'score': 0.2}, {'connected_gene': 'RARB', 'score': 0.06}]
chr3 GH03I025468 25468074 25470077 0.78 [{'connected_gene': 'ENSG00000229421', 'score': 0.31}, {'connected_gene': 'GC03M025516', 'score': 0.25}, {'connected_gene': 'RARB', 'score': 0.06}]
chr3 GH03I025450 25450336 25450867 0.31 [{'connected_gene': 'ENSG00000229421', 'score': 0.44}, {'connected_gene': 'GC03M025516', 'score': 0.2}, {'connected_gene': 'RARB', 'score': 0.06}]
chr3 GH03I025460 25460544 25461428 0.66 [{'connected_gene': 'ENSG00000229421', 'score': 0.37}, {'connected_gene': 'GC03M025516', 'score': 0.22}, {'connected_gene': 'RARB', 'score': 0.06}]
chr3 GH03I025488 25488243 25489449 0.2 [{'connected_gene': 'GC03M025516', 'score': 0.31}, {'connected_gene': 'ENSG00000229421', 'score': 0.25}, {'connected_gene': 'RARB', 'score': 0.06}]
chr3 GH03I025497 25497055 25500063 0.2 [{'connected_gene': 'GC03M025516', 'score': 0.37}, {'connected_gene': 'ENSG00000229421', 'score': 0.22}, {'connected_gene': 'RARB', 'score': 0.05}]
chr3 GH03I025485 25485221 25486291 0.43 [{'connected_gene': 'GC03M025516', 'score': 0.29}, {'connected_gene': 'ENSG00000229421', 'score': 0.26}, {'connected_gene': 'RARB', 'score': 0.06}]
chr3 GH03I025472 25472687 25474461 0.43 [{'connected_gene': 'ENSG00000229421', 'score': 0.29}, {'connected_gene': 'GC03M025516', 'score': 0.26}, {'connected_gene': 'RARB', 'score': 0.06}]
chr3 GH03I025557 25557600 25559028 0.43 [{'connected_gene': 'ENSG00000272166', 'score': 0.77}, {'connected_gene': 'ENSG00000275227', 'score': 0.22}, {'connected_gene': 'RARB', 'score': 0.05}]
chr3 GH03I025591 25591904 25593200 1.19 [{'connected_gene': 'ENSG00000275227', 'score': 0.31}, {'connected_gene': 'ENSG00000272166', 'score': 0.28}, {'connected_gene': 'RARB', 'score': 0.05}]
chr3 GH03I025504 25504939 25506153 0.2 [{'connected_gene': 'GC03M025516', 'score': 0.39}, {'connected_gene': 'ENSG00000229421', 'score': 0.21}, {'connected_gene': 'RARB', 'score': 0.06}]
chr3 GH03I025555 25555664 25556588 0.43 [{'connected_gene': 'ENSG00000272166', 'score': 550.77}, {'connected_gene': 'ENSG00000275227', 'score': 0.21}, {'connected_gene': 'RARB', 'score': 0.05}]
chr3 GH03I025482 25482901 25484408 0.58 [{'connected_gene': 'GC03M025516', 'score': 0.29}, {'connected_gene': 'ENSG00000229421', 'score': 0.26}, {'connected_gene': 'RARB', 'score': 0.06}]
chr3 GH03I025471 25471201 25472200 0.63 [{'connected_gene': 'ENSG00000229421', 'score': 0.29}, {'connected_gene': 'GC03M025516', 'score': 0.25}, {'connected_gene': 'RARB', 'score': 0.06}]
chr3 GH03I025154 25154515 25158197 1.13 [{'connected_gene': 'GC03M025149', 'score': 550.77}, {'connected_gene': 'RARB', 'score': 0.37}, {'connected_gene': 'ENSG00000237838', 'score': 0.04}]
chr3 GH03I025475 25475896 25477616 0.2 [{'connected_gene': 'ENSG00000229421', 'score': 0.28}, {'connected_gene': 'GC03M025516', 'score': 0.26}, {'connected_gene': 'RARB', 'score': 0.06}]
chr3 GH03I025465 25465099 25465864 0.31 [{'connected_gene': 'ENSG00000229421', 'score': 0.34}, {'connected_gene': 'GC03M025516', 'score': 0.23}, {'connected_gene': 'RARB', 'score': 0.06}]
chr3 GH03I025581 25581350 25583379 1.56 [{'connected_gene': 'ENSG00000272166', 'score': 0.31}, {'connected_gene': 'ENSG00000275227', 'score': 0.28}, {'connected_gene': 'RARB', 'score': 0.05}]
chr3 GH03I025507 25507552 25510203 0.92 [{'connected_gene': 'GC03M025516', 'score': 0.44}, {'connected_gene': 'ENSG00000229421', 'score': 0.2}, {'connected_gene': 'RARB', 'score': 0.06}]
chr3 GH03I025572 25572453 25574540 0.96 [{'connected_gene': 'ENSG00000272166', 'score': 0.37}, {'connected_gene': 'ENSG00000275227', 'score': 0.26}, {'connected_gene': 'RARB', 'score': 0.05}]
chr3 GH03I025536 25536181 25537788 0.38 [{'connected_gene': 'ENSG00000272166', 'score': 0.37}, {'connected_gene': 'GC03M025516', 'score': 0.37}, {'connected_gene': 'RARB', 'score': 0.05}]
chr3 GH03I025453 25453498 25456628 1.1 [{'connected_gene': 'ENSG00000229421', 'score': 0.39}, {'connected_gene': 'GC03M025516', 'score': 0.21}, {'connected_gene': 'RARB', 'score': 0.06}]
chr3 GH03I025490 25490696 25491863 0.2 [{'connected_gene': 'GC03M025516', 'score': 0.31}, {'connected_gene': 'ENSG00000229421', 'score': 0.25}, {'connected_gene': 'RARB', 'score': 0.06}]
chr3 GH03I025492 25492049 25494771 0.77 [{'connected_gene': 'GC03M025516', 'score': 0.34}, {'connected_gene': 'ENSG00000229421', 'score': 0.23}, {'connected_gene': 'RARB', 'score': 0.06}]
chr3 GH03I025502 25502505 25504863 0.43 [{'connected_gene': 'GC03M025516', 'score': 0.39}, {'connected_gene': 'ENSG00000229421', 'score': 0.21}, {'connected_gene': 'RARB', 'score': 0.05}]
chr3 GH03I025235 25235130 25235279 0.2 [{'connected_gene': 'GC03M025241', 'score': 0.37}, {'connected_gene': 'LOC105376998', 'score': 0.34}, {'connected_gene': 'RARB', 'score': 0.21}]
chr3 GH03I025236 25235630 25235779 0.31 [{'connected_gene': 'GC03M025241', 'score': 0.39}, {'connected_gene': 'LOC105376998', 'score': 0.37}, {'connected_gene': 'RARB', 'score': 0.21}]
chr3 GH03I025421 25421160 25422685 0.72 [{'connected_gene': 'ENSG00000229421', 'score': 0.37}, {'connected_gene': 'LOC105376997', 'score': 0.28}, {'connected_gene': 'RARB', 'score': 0.07}]
chr3 GH03I025423 25423724 25425147 1.1 [{'connected_gene': 'ENSG00000229421', 'score': 0.37}, {'connected_gene': 'LOC105376997', 'score': 0.28}, {'connected_gene': 'RARB', 'score': 0.07}]
chr3 GH03I025432 25432993 25434571 1.09 [{'connected_gene': 'ENSG00000229421', 'score': 0.44}, {'connected_gene': 'LOC105376997', 'score': 0.25}, {'connected_gene': 'RARB', 'score': 0.07}]
chr3 GH03I025436 25436341 25436551 0.63 [{'connected_gene': 'ENSG00000229421', 'score': 0.44}, {'connected_gene': 'LOC105376997', 'score': 0.23}, {'connected_gene': 'RARB', 'score': 0.07}]
chr3 GH03I025438 25438473 25438800 0.6 [{'connected_gene': 'ENSG00000229421', 'score': 0.77}, {'connected_gene': 'LOC105376997', 'score': 0.23}, {'connected_gene': 'RARB', 'score': 0.07}]
chr3 GH03I025419 25419468 25420953 0.43 [{'connected_gene': 'ENSG00000229421', 'score': 0.34}, {'connected_gene': 'LOC105376997', 'score': 0.28}, {'connected_gene': 'RARB', 'score': 0.07}]
chr3 GH03I025350 25350051 25350781 0.31 [{'connected_gene': 'GC03M025352', 'score': 550.77}, {'connected_gene': 'RNA5SP126', 'score': 550.77}, {'connected_gene': 'GC03P025324', 'score': 0.31}, {'connected_gene': 'RARB', 'score': 0.1}]
chr3 GH03I025351 25350890 25351039 0.2 [{'connected_gene': 'GC03M025352', 'score': 550.77}, {'connected_gene': 'RNA5SP126', 'score': 550.77}, {'connected_gene': 'GC03P025324', 'score': 0.31}, {'connected_gene': 'RARB', 'score': 0.1}]
chr3 GH03I025338 25338028 25338720 0.46 [{'connected_gene': 'GC03M025352', 'score': 0.39}, {'connected_gene': 'RNA5SP126', 'score': 0.39}, {'connected_gene': 'GC03P025324', 'score': 0.39}, {'connected_gene': 'RARB', 'score': 0.1}]
chr3 GH03I025365 25365730 25365879 0.2 [{'connected_gene': 'GC03M025352', 'score': 0.39}, {'connected_gene': 'RNA5SP126', 'score': 0.39}, {'connected_gene': 'LOC105376997', 'score': 0.37}, {'connected_gene': 'RARB', 'score': 0.08}]