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
ENST00000334082 [[78668458, 78672020], [78692645, 78692726], [78693349, 78693460], [78697721, 78697878], [78734832, 78734972], [78742875, 78742968], [78746812, 78746944], [78752684, 78752841], [78808592, 78810040]] [[78671831, 78672020], [78692645, 78692726], [78693349, 78693460], [78697721, 78697878], [78734832, 78734972], [78742875, 78742968], [78746812, 78746944], [78752684, 78752841], [78808592, 78808597]]
ENST00000535690 [[78671752, 78672020], [78692645, 78692726], [78693349, 78693460], [78697721, 78697878], [78808592, 78808617]] [[78671831, 78672020], [78692645, 78692726], [78693349, 78693460], [78697721, 78697878], [78808592, 78808597]]
ENST00000508576 [[78671752, 78672020], [78734832, 78734972], [78742875, 78742968], [78746812, 78746944], [78752684, 78752841], [78808592, 78808617]] [[78672013, 78672020], [78734832, 78734972], [78742875, 78742968], [78746812, 78746944], [78752684, 78752841], [78808592, 78808597]]
ENST00000282260 [[78671752, 78672020], [78692645, 78692726], [78693349, 78693460], [78746812, 78746944], [78752684, 78752841], [78808592, 78808617]] [[78671831, 78672020], [78692645, 78692726], [78693349, 78693460], [78746812, 78746944], [78752684, 78752841], [78808592, 78808597]]
ENST00000460741 [[78671730, 78672020], [78692645, 78692726], [78693349, 78693733]] None
NM_004272 [[78669646, 78672020], [78692645, 78692726], [78693349, 78693460], [78697721, 78697878], [78734832, 78734972], [78742875, 78742968], [78746812, 78746944], [78752684, 78752841], [78808592, 78809659]] [[78671831, 78672020], [78692645, 78692726], [78693349, 78693460], [78697721, 78697878], [78734832, 78734972], [78742875, 78742968], [78746812, 78746944], [78752684, 78752841], [78808592, 78808597]]
NM_001277078 [[78669646, 78672020], [78734832, 78734972], [78742875, 78742968], [78746812, 78746944], [78752684, 78752841], [78808592, 78809659]] [[78672013, 78672020], [78734832, 78734972], [78742875, 78742968], [78746812, 78746944], [78752684, 78752841], [78808592, 78808597]]
NM_001277077 [[78669646, 78672020], [78692645, 78692726], [78693349, 78693460], [78746812, 78746944], [78752684, 78752841], [78808592, 78809659]] [[78671831, 78672020], [78692645, 78692726], [78693349, 78693460], [78746812, 78746944], [78752684, 78752841], [78808592, 78808597]]
Promoter
Chrom Start End Description
chr5 78808641 78808653 CAGE_peak_15_at_HOMER1_5end
chr5 78809504 78809536 CAGE_peak_8_at_HOMER1_5end
chr5 78809656 78809701 CAGE_peak_6_at_HOMER1_5end
chr5 78809885 78809920 CAGE_peak_4_at_HOMER1_5end
chr5 78809922 78809946 CAGE_peak_2_at_HOMER1_5end
chr5 78809950 78809967 CAGE_peak_3_at_HOMER1_5end
chr5 78810346 78810363 CAGE_peak_1_at_HOMER1_5end
chr5 78810367 78810396 CAGE_peak_5_at_HOMER1_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr5 GH05I079556 79556201 79556600 0.92 [{'connected_gene': 'HOMER1', 'score': 11.02}, {'connected_gene': 'THBS4', 'score': 10.23}, {'connected_gene': 'CTD-2201I18.1', 'score': 10.22}, {'connected_gene': 'LOC105379047', 'score': 0.44}, {'connected_gene': 'ENSG00000277818', 'score': 0.44}]
chr5 GH05I079511 79511200 79515400 2.11 [{'connected_gene': 'HOMER1', 'score': 550.77}, {'connected_gene': 'PAPD4', 'score': 16.67}, {'connected_gene': 'MTX3', 'score': 14.51}, {'connected_gene': 'JMY', 'score': 10.28}, {'connected_gene': 'GC05P079511', 'score': 0.77}]
chr5 GH05I079518 79518131 79519220 0.46 [{'connected_gene': 'HOMER1', 'score': 0.77}, {'connected_gene': 'RPL7AP32', 'score': 0.39}]
chr5 GH05I079447 79447940 79449586 0.46 [{'connected_gene': 'HOMER1', 'score': 5.34}, {'connected_gene': 'GC05M079453', 'score': 0.44}, {'connected_gene': 'GC05M079367', 'score': 0.25}, {'connected_gene': 'LOC101929201', 'score': 0.18}]
chr5 GH05I079508 79508401 79509400 0.74 [{'connected_gene': 'RPL29P15', 'score': 550.77}, {'connected_gene': 'GC05P079511', 'score': 550.77}, {'connected_gene': 'HOMER1', 'score': 0.44}, {'connected_gene': 'GC05M079367', 'score': 0.39}]
chr5 GH05I079546 79546840 79548676 1.17 [{'connected_gene': 'LOC105379047', 'score': 550.77}, {'connected_gene': 'HOMER1', 'score': 5.52}, {'connected_gene': 'PAPD4', 'score': 5.43}, {'connected_gene': 'CMYA5', 'score': 2.64}, {'connected_gene': 'ENSG00000277818', 'score': 0.37}]
chr5 GH05I079562 79562518 79562647 0.46 [{'connected_gene': 'ENSG00000277818', 'score': 550.77}, {'connected_gene': 'HOMER1', 'score': 10.58}, {'connected_gene': 'CMYA5', 'score': 10.09}, {'connected_gene': 'ENSG00000250258', 'score': 9.81}, {'connected_gene': 'THBS4', 'score': 9.25}, {'connected_gene': 'CTD-2201I18.1', 'score': 9.23}, {'connected_gene': 'LOC105379047', 'score': 0.37}]
chr5 GH05I079495 79495518 79495667 0.72 [{'connected_gene': 'GC05M079367', 'score': 0.77}, {'connected_gene': 'HOMER1', 'score': 0.37}, {'connected_gene': 'GC05M079453', 'score': 0.26}]
chr5 GH05I079840 79840706 79840871 0.27 [{'connected_gene': 'ENSG00000250258', 'score': 11.4}, {'connected_gene': 'THBS4', 'score': 8.86}, {'connected_gene': 'CTD-2201I18.1', 'score': 8.83}, {'connected_gene': 'HOMER1', 'score': 1.48}, {'connected_gene': 'ENSG00000238254', 'score': 0.44}, {'connected_gene': 'LOC102724557', 'score': 0.28}]
chr5 GH05I079560 79560749 79561954 1.15 [{'connected_gene': 'ENSG00000277818', 'score': 550.77}, {'connected_gene': 'CMYA5', 'score': 14.85}, {'connected_gene': 'HOMER1', 'score': 10.6}, {'connected_gene': 'ENSG00000250258', 'score': 9.81}, {'connected_gene': 'THBS4', 'score': 9.46}, {'connected_gene': 'CTD-2201I18.1', 'score': 9.45}, {'connected_gene': 'PAPD4', 'score': 4.18}, {'connected_gene': 'LOC105379047', 'score': 0.39}]