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
ENST00000395743 [[75669968, 75671885], [75673249, 75673359], [75675782, 75675929], [75681068, 75681186], [75695267, 75695366], [75719471, 75719896]] [[75673250, 75673359], [75675782, 75675929], [75681068, 75681186], [75695267, 75695366], [75719471, 75719535]]
ENST00000512743 [[75671588, 75671885], [75673249, 75673359], [75681068, 75681186], [75695267, 75695366]] [[75673250, 75673359], [75681068, 75681186], [75695267, 75695366]]
NM_001729 [[75669968, 75671885], [75673249, 75673359], [75675782, 75675929], [75681068, 75681186], [75695267, 75695366], [75719471, 75719896]] [[75673250, 75673359], [75675782, 75675929], [75681068, 75681186], [75695267, 75695366], [75719471, 75719535]]
NM_001316963 [[75669968, 75671885], [75673249, 75673359], [75681068, 75681186], [75695267, 75695366], [75719471, 75719896]] [[75673250, 75673359], [75681068, 75681186], [75695267, 75695366], [75719471, 75719535]]
Promoter
Chrom Start End Description
chr4 75719627 75719641 CAGE_peak_2_at_BTC_5end
chr4 75719725 75719739 CAGE_peak_1_at_BTC_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr4 GH04I074796 74796128 74796486 0.22 [{'connected_gene': 'BTC', 'score': 567.07}, {'connected_gene': 'GC04P074814', 'score': 0.37}]
chr4 GH04I074715 74715237 74716710 0.2 [{'connected_gene': 'BTC', 'score': 0.18}, {'connected_gene': 'ENSG00000249942', 'score': 0.13}]
chr4 GH04I074793 74793372 74794984 1.77 [{'connected_gene': 'BTC', 'score': 588.54}, {'connected_gene': 'ENSG00000249942', 'score': 0.08}]
chr4 GH04I074768 74768791 74769537 0.75 [{'connected_gene': 'BTC', 'score': 4.61}, {'connected_gene': 'ENSG00000249942', 'score': 0.1}]
chr4 GH04I074648 74648586 74651177 0.46 [{'connected_gene': 'AREG', 'score': 4.33}, {'connected_gene': 'ENSG00000249942', 'score': 0.21}, {'connected_gene': 'BTC', 'score': 0.11}]
chr4 GH04I074932 74932800 74935300 2.36 [{'connected_gene': 'PARM1', 'score': 554.64}, {'connected_gene': 'BTC', 'score': 6.26}, {'connected_gene': 'LOC100507388', 'score': 0.28}]
chr4 GH04I074665 74665177 74666013 0.58 [{'connected_gene': 'EPGN', 'score': 10.13}, {'connected_gene': 'MTHFD2L', 'score': 8.97}, {'connected_gene': 'ENSG00000249942', 'score': 0.18}, {'connected_gene': 'BTC', 'score': 0.13}]
chr4 GH04I074667 74667146 74669750 0.63 [{'connected_gene': 'EPGN', 'score': 10.13}, {'connected_gene': 'MTHFD2L', 'score': 8.97}, {'connected_gene': 'AREG', 'score': 5.07}, {'connected_gene': 'ENSG00000249942', 'score': 0.18}, {'connected_gene': 'BTC', 'score': 0.13}]
chr4 GH04I074617 74617682 74621730 1.02 [{'connected_gene': 'EPGN', 'score': 9.68}, {'connected_gene': 'EREG', 'score': 5.54}, {'connected_gene': 'ENSG00000249942', 'score': 0.29}, {'connected_gene': 'BTC', 'score': 0.09}]
chr4 GH04I074631 74631210 74634100 1.51 [{'connected_gene': 'EREG', 'score': 2.53}, {'connected_gene': 'AREG', 'score': 2.24}, {'connected_gene': 'ENSG00000249942', 'score': 0.26}, {'connected_gene': 'BTC', 'score': 0.1}]
chr4 GH04I074626 74626879 74630315 0.99 [{'connected_gene': 'ENSG00000249942', 'score': 0.28}, {'connected_gene': 'BTC', 'score': 0.1}]
chr4 GH04I074651 74651304 74652108 0.2 [{'connected_gene': 'ENSG00000249942', 'score': 0.21}, {'connected_gene': 'BTC', 'score': 0.11}]
chr4 GH04I074623 74623135 74626745 1.53 [{'connected_gene': 'ENSG00000249942', 'score': 0.28}, {'connected_gene': 'BTC', 'score': 0.1}]
chr4 GH04I074682 74682320 74683820 1.34 [{'connected_gene': 'ENSG00000249942', 'score': 0.16}, {'connected_gene': 'BTC', 'score': 0.14}]
chr4 GH04I074638 74638875 74641237 0.82 [{'connected_gene': 'ENSG00000249942', 'score': 0.23}, {'connected_gene': 'BTC', 'score': 0.1}]
chr4 GH04I074658 74658079 74663441 1.36 [{'connected_gene': 'ENSG00000249942', 'score': 0.19}, {'connected_gene': 'BTC', 'score': 0.12}]
chr4 GH04I074614 74614051 74614070 0.26 [{'connected_gene': 'ENSG00000249942', 'score': 11.84}, {'connected_gene': 'BTC', 'score': 0.09}]
chr4 GH04I074671 74671200 74671401 1.08 [{'connected_gene': 'ENSG00000249942', 'score': 0.18}, {'connected_gene': 'BTC', 'score': 0.13}]
chr4 GH04I074652 74652763 74657447 1.38 [{'connected_gene': 'ENSG00000249942', 'score': 0.2}, {'connected_gene': 'BTC', 'score': 0.12}]

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