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
ENST00000435706 [[25639476, 25639968], [25640925, 25641020], [25642590, 25642716], [25646250, 25646361], [25647533, 25647613], [25648661, 25648866], [25650673, 25650835], [25651058, 25651203], [25654005, 25654200], [25656695, 25656779], [25656921, 25657077], [25659908, 25660000], [25660144, 25660340], [25661352, 25661553], [25662172, 25662307], [25665005, 25665237], [25665787, 25665936], [25666172, 25666294], [25668050, 25668165], [25668262, 25668355], [25668677, 25668787], [25670337, 25670443], [25670525, 25670636], [25671519, 25671645], [25671802, 25671960], [25672291, 25672430], [25673936, 25674074], [25674183, 25674285], [25675331, 25675505], [25677426, 25677639], [25678705, 25678803], [25679655, 25679801], [25683812, 25683876], [25685184, 25685275], [25686790, 25686946], [25705719, 25705990]] [[25639797, 25639968], [25640925, 25641020], [25642590, 25642716], [25646250, 25646361], [25647533, 25647613], [25648661, 25648866], [25650673, 25650835], [25651058, 25651203], [25654005, 25654200], [25656695, 25656779], [25656921, 25657077], [25659908, 25660000], [25660144, 25660340], [25661352, 25661553], [25662172, 25662307], [25665005, 25665237], [25665787, 25665936], [25666172, 25666294], [25668050, 25668165], [25668262, 25668355], [25668677, 25668787], [25670337, 25670443], [25670525, 25670636], [25671519, 25671645], [25671802, 25671960], [25672291, 25672430], [25673936, 25674074], [25674183, 25674285], [25675331, 25675505], [25677426, 25677639], [25678705, 25678803], [25679655, 25679801], [25683812, 25683876], [25685184, 25685275], [25686790, 25686946], [25705719, 25705788]]
ENST00000264331 [[25639489, 25639968], [25640925, 25641020], [25642590, 25642716], [25646250, 25646361], [25647533, 25647613], [25648661, 25648866], [25650673, 25650835], [25651058, 25651203], [25654005, 25654200], [25656695, 25656779], [25656921, 25657077], [25659908, 25660000], [25660144, 25660340], [25661352, 25661553], [25662172, 25662307], [25665005, 25665237], [25665787, 25665936], [25666172, 25666294], [25668050, 25668165], [25668262, 25668355], [25668677, 25668787], [25670337, 25670443], [25670525, 25670636], [25671519, 25671645], [25671802, 25671960], [25672291, 25672430], [25673936, 25674074], [25674183, 25674285], [25675331, 25675505], [25677426, 25677639], [25678705, 25678803], [25679655, 25679801], [25683812, 25683876], [25685184, 25685275], [25686790, 25686961], [25705719, 25705788]] [[25639797, 25639968], [25640925, 25641020], [25642590, 25642716], [25646250, 25646361], [25647533, 25647613], [25648661, 25648866], [25650673, 25650835], [25651058, 25651203], [25654005, 25654200], [25656695, 25656779], [25656921, 25657077], [25659908, 25660000], [25660144, 25660340], [25661352, 25661553], [25662172, 25662307], [25665005, 25665237], [25665787, 25665936], [25666172, 25666294], [25668050, 25668165], [25668262, 25668355], [25668677, 25668787], [25670337, 25670443], [25670525, 25670636], [25671519, 25671645], [25671802, 25671960], [25672291, 25672430], [25673936, 25674074], [25674183, 25674285], [25675331, 25675505], [25677426, 25677639], [25678705, 25678803], [25679655, 25679801], [25683812, 25683876], [25685184, 25685275], [25686790, 25686961], [25705719, 25705788]]
ENST00000424225 [[25656963, 25657077], [25659908, 25660000], [25660144, 25660340], [25661352, 25661553], [25662172, 25662307], [25665005, 25665237], [25665787, 25665936], [25666172, 25666294], [25668050, 25668165], [25668262, 25668355], [25668677, 25668787], [25670337, 25670443], [25670525, 25670636], [25671519, 25671645], [25671802, 25671960], [25672291, 25672430], [25673936, 25674074], [25674183, 25674285], [25675331, 25675505], [25677426, 25677639], [25678705, 25678803], [25679655, 25679801], [25683812, 25683876], [25685184, 25685275], [25686790, 25686946], [25705719, 25705831], [25706366, 25706398]] [[25656963, 25657077], [25659908, 25660000], [25660144, 25660340], [25661352, 25661553], [25662172, 25662307], [25665005, 25665237], [25665787, 25665936], [25666172, 25666294], [25668050, 25668165], [25668262, 25668355], [25668677, 25668787], [25670337, 25670443], [25670525, 25670636], [25671519, 25671645], [25671802, 25671960], [25672291, 25672430], [25673936, 25674074], [25674183, 25674285], [25675331, 25675505], [25677426, 25677639], [25678705, 25678803], [25679655, 25679801], [25683812, 25683876], [25685184, 25685275], [25686790, 25686946], [25705719, 25705788]]
ENST00000413971 [[25639474, 25639968], [25640925, 25641020], [25642590, 25642716], [25646250, 25646361], [25647533, 25647613], [25648661, 25648866], [25650673, 25650835], [25651058, 25651203], [25654005, 25654200], [25656695, 25656779], [25656921, 25657077], [25660144, 25660340]] [[25657060, 25657077], [25660144, 25660340]]
ENST00000542520 [[25639474, 25639968], [25640925, 25641020], [25642590, 25642716], [25646250, 25646361], [25647533, 25647613], [25648661, 25648866], [25650673, 25650835], [25651058, 25651203], [25654005, 25654200], [25656695, 25656779], [25656921, 25657077], [25660144, 25660340], [25661352, 25661364]] [[25639797, 25639968], [25640925, 25641020], [25642590, 25642716], [25646250, 25646361], [25647533, 25647613], [25648661, 25648866], [25650673, 25650835], [25651058, 25651203], [25654005, 25654200], [25656695, 25656779], [25656921, 25656984]]
ENST00000540199 [[25639591, 25639968], [25640925, 25641020], [25642590, 25642716], [25646250, 25646361], [25647533, 25647613], [25648661, 25648866], [25650673, 25650835], [25651058, 25651203], [25654005, 25654200], [25656695, 25656779], [25656921, 25657077], [25657271, 25657432]] [[25639797, 25639968], [25640925, 25641020], [25642590, 25642716], [25646250, 25646361], [25647533, 25647613], [25648661, 25648866], [25650673, 25650835], [25651058, 25651203], [25654005, 25654200], [25656695, 25656779], [25656921, 25656984]]
ENST00000475717 [[25654061, 25654200], [25656695, 25656779], [25656921, 25657077], [25657271, 25657432]] None
ENST00000470132 [[25665842, 25665936], [25666172, 25666529]] None
ENST00000491510 [[25668547, 25668787], [25670337, 25670443], [25670525, 25670636], [25671519, 25671646]] None
NM_001068 [[25639395, 25639968], [25640925, 25641020], [25642590, 25642716], [25646250, 25646361], [25647533, 25647613], [25648661, 25648866], [25650673, 25650835], [25651058, 25651203], [25654005, 25654200], [25656695, 25656779], [25656921, 25657077], [25659908, 25660000], [25660144, 25660340], [25661352, 25661553], [25662172, 25662307], [25665005, 25665237], [25665787, 25665936], [25666172, 25666294], [25668050, 25668165], [25668262, 25668355], [25668677, 25668787], [25670337, 25670443], [25670525, 25670636], [25671519, 25671645], [25671802, 25671960], [25672291, 25672430], [25673936, 25674074], [25674183, 25674285], [25675331, 25675505], [25677426, 25677639], [25678705, 25678803], [25679655, 25679801], [25683812, 25683876], [25685184, 25685275], [25686790, 25686946], [25705719, 25705863]] [[25639797, 25639968], [25640925, 25641020], [25642590, 25642716], [25646250, 25646361], [25647533, 25647613], [25648661, 25648866], [25650673, 25650835], [25651058, 25651203], [25654005, 25654200], [25656695, 25656779], [25656921, 25657077], [25659908, 25660000], [25660144, 25660340], [25661352, 25661553], [25662172, 25662307], [25665005, 25665237], [25665787, 25665936], [25666172, 25666294], [25668050, 25668165], [25668262, 25668355], [25668677, 25668787], [25670337, 25670443], [25670525, 25670636], [25671519, 25671645], [25671802, 25671960], [25672291, 25672430], [25673936, 25674074], [25674183, 25674285], [25675331, 25675505], [25677426, 25677639], [25678705, 25678803], [25679655, 25679801], [25683812, 25683876], [25685184, 25685275], [25686790, 25686946], [25705719, 25705788]]
NM_001330700 [[25639395, 25639968], [25640925, 25641020], [25642590, 25642716], [25646250, 25646361], [25647533, 25647613], [25648661, 25648866], [25650673, 25650835], [25651058, 25651203], [25654005, 25654200], [25656695, 25656779], [25656921, 25657077], [25659908, 25660000], [25660144, 25660340], [25661352, 25661553], [25662172, 25662307], [25665005, 25665237], [25665787, 25665936], [25666172, 25666294], [25668050, 25668165], [25668262, 25668355], [25668677, 25668787], [25670337, 25670443], [25670525, 25670636], [25671519, 25671645], [25671802, 25671960], [25672291, 25672430], [25673936, 25674074], [25674183, 25674285], [25675331, 25675505], [25677426, 25677639], [25678705, 25678803], [25679655, 25679801], [25683812, 25683876], [25685184, 25685275], [25686790, 25686961], [25705719, 25705990]] [[25639797, 25639968], [25640925, 25641020], [25642590, 25642716], [25646250, 25646361], [25647533, 25647613], [25648661, 25648866], [25650673, 25650835], [25651058, 25651203], [25654005, 25654200], [25656695, 25656779], [25656921, 25657077], [25659908, 25660000], [25660144, 25660340], [25661352, 25661553], [25662172, 25662307], [25665005, 25665237], [25665787, 25665936], [25666172, 25666294], [25668050, 25668165], [25668262, 25668355], [25668677, 25668787], [25670337, 25670443], [25670525, 25670636], [25671519, 25671645], [25671802, 25671960], [25672291, 25672430], [25673936, 25674074], [25674183, 25674285], [25675331, 25675505], [25677426, 25677639], [25678705, 25678803], [25679655, 25679801], [25683812, 25683876], [25685184, 25685275], [25686790, 25686961], [25705719, 25705788]]
Promoter
Chrom Start End Description
chr3 25660208 25660242 CAGE_peak_3_at_TOP2B_5end
chr3 25671835 25671846 CAGE_peak_4_at_TOP2B_5end
chr3 25679797 25679810 CAGE_peak_2_at_TOP2B_5end
chr3 25706368 25706444 CAGE_peak_1_at_MIR4442_5end,CAGE_peak_1_at_TOP2B_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 GH03I025046 25045005 25045435 0.31 [{'connected_gene': 'TOP2B', 'score': 12.91}, {'connected_gene': 'GC03P025048', 'score': 0.77}, {'connected_gene': 'RNA5SP125', 'score': 0.34}, {'connected_gene': 'ENSG00000237838', 'score': 0.05}]
chr3 GH03I025662 25662146 25666718 2.03 [{'connected_gene': 'TOP2B', 'score': 559.23}, {'connected_gene': 'MIR4442', 'score': 550.77}, {'connected_gene': 'NGLY1', 'score': 13.51}, {'connected_gene': 'GC03M025633', 'score': 0.31}]
chr3 GH03I025603 25603308 25605009 1.25 [{'connected_gene': 'TOP2B', 'score': 5.25}, {'connected_gene': 'ENSG00000275227', 'score': 0.39}, {'connected_gene': 'ENSG00000272166', 'score': 0.25}]
chr3 GH03I026103 26103616 26106769 0.73 [{'connected_gene': 'NGLY1', 'score': 6.7}, {'connected_gene': 'TOP2B', 'score': 1.31}, {'connected_gene': 'GC03M026123', 'score': 0.37}, {'connected_gene': 'PIR51645', 'score': 0.34}]
chr3 GH03I025647 25647943 25648819 1 [{'connected_gene': 'GC03M025633', 'score': 0.39}, {'connected_gene': 'TOP2B', 'score': 0.37}]