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
ENST00000322244 [[68478369, 68484850], [68488548, 68488643], [68488852, 68488940], [68489843, 68489971], [68490711, 68490905], [68492077, 68492195], [68494788, 68494860], [68496183, 68496253], [68497425, 68497489], [68497574, 68497626], [68499062, 68499191], [68499959, 68500040], [68500146, 68500236], [68501170, 68501276], [68504660, 68504842], [68506868, 68506946], [68510415, 68510496], [68511655, 68511734], [68512441, 68512509], [68514785, 68514929], [68527906, 68527973], [68528856, 68528933], [68529602, 68529665], [68530906, 68531010], [68534268, 68534392], [68536187, 68536310], [68539414, 68539495], [68543328, 68543440], [68544156, 68544251], [68547280, 68547309], [68547836, 68547931], [68562362, 68562425], [68566766, 68566897]] [[68484714, 68484850], [68488548, 68488643], [68488852, 68488940], [68489843, 68489971], [68490711, 68490905], [68492077, 68492195], [68494788, 68494860], [68496183, 68496253], [68497425, 68497489], [68497574, 68497626], [68499062, 68499191], [68499959, 68500040], [68500146, 68500236], [68501170, 68501276], [68504660, 68504842], [68506868, 68506946], [68510415, 68510496], [68511655, 68511734], [68512441, 68512509], [68514785, 68514929], [68527906, 68527973], [68528856, 68528933], [68529602, 68529665], [68530906, 68531010], [68534268, 68534392], [68536187, 68536310], [68539414, 68539495], [68543328, 68543440], [68544156, 68544251], [68547280, 68547309], [68547836, 68547931], [68562362, 68562425], [68566766, 68566837]]
ENST00000420827 [[68527380, 68527973], [68528856, 68528933], [68529602, 68529665], [68530906, 68531010], [68534268, 68534392], [68536187, 68536310], [68539414, 68539495], [68543328, 68543440], [68544156, 68544251], [68547280, 68547309], [68547836, 68547931], [68562362, 68562425], [68566766, 68566871]] [[68527840, 68527973], [68528856, 68528933], [68529602, 68529665], [68530906, 68531010], [68534268, 68534392], [68536187, 68536310], [68539414, 68539495], [68543328, 68543440], [68544156, 68544251], [68547280, 68547309], [68547836, 68547931], [68562362, 68562425], [68566766, 68566837]]
ENST00000429659 [[68528204, 68529665], [68530906, 68531010], [68534268, 68534392], [68536187, 68536310], [68539414, 68539495], [68543328, 68543440], [68544156, 68544251], [68547280, 68547309], [68547836, 68547931], [68562362, 68562425], [68566766, 68566866]] None
ENST00000506571 [[68544147, 68544251], [68547280, 68547309], [68547836, 68547931], [68562362, 68562425], [68566766, 68566860]] None
ENST00000514261 [[68484572, 68484850], [68488548, 68488643], [68488852, 68488940], [68490711, 68490873]] [[68488626, 68488643], [68488852, 68488940], [68490711, 68490873]]
ENST00000505673 [[68496171, 68496253], [68497425, 68497489], [68497574, 68497626], [68499959, 68500040], [68500146, 68500236], [68501170, 68501276], [68504660, 68504842], [68506868, 68506946], [68510415, 68510492]] [[68496171, 68496253], [68497425, 68497489], [68497574, 68497626], [68499959, 68500040], [68500146, 68500236], [68501170, 68501276], [68504660, 68504842], [68506868, 68506946], [68510415, 68510492]]
NM_018227 [[68481478, 68484850], [68488548, 68488643], [68488852, 68488940], [68489843, 68489971], [68490711, 68490905], [68492077, 68492195], [68494788, 68494860], [68496183, 68496253], [68497425, 68497489], [68497574, 68497626], [68499062, 68499191], [68499959, 68500040], [68500146, 68500236], [68501170, 68501276], [68504660, 68504842], [68506868, 68506946], [68510415, 68510496], [68511655, 68511734], [68512441, 68512509], [68514785, 68514929], [68527906, 68527973], [68528856, 68528933], [68529602, 68529665], [68530906, 68531010], [68534268, 68534392], [68536187, 68536310], [68539414, 68539495], [68543328, 68543440], [68544156, 68544251], [68547280, 68547309], [68547836, 68547931], [68562362, 68562425], [68566766, 68566889]] [[68484714, 68484850], [68488548, 68488643], [68488852, 68488940], [68489843, 68489971], [68490711, 68490905], [68492077, 68492195], [68494788, 68494860], [68496183, 68496253], [68497425, 68497489], [68497574, 68497626], [68499062, 68499191], [68499959, 68500040], [68500146, 68500236], [68501170, 68501276], [68504660, 68504842], [68506868, 68506946], [68510415, 68510496], [68511655, 68511734], [68512441, 68512509], [68514785, 68514929], [68527906, 68527973], [68528856, 68528933], [68529602, 68529665], [68530906, 68531010], [68534268, 68534392], [68536187, 68536310], [68539414, 68539495], [68543328, 68543440], [68544156, 68544251], [68547280, 68547309], [68547836, 68547931], [68562362, 68562425], [68566766, 68566837]]
Promoter
Chrom Start End Description
chr4 68566832 68566896 CAGE_peak_1_at_UBA6_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr4 GH04I068346 68346202 68351374 2.46 [{'connected_gene': 'YTHDC1', 'score': 564.85}, {'connected_gene': 'CENPC', 'score': 29.78}, {'connected_gene': 'UBA6', 'score': 19.6}, {'connected_gene': 'ENSG00000270257', 'score': 10.68}, {'connected_gene': 'UGT2B29P', 'score': 4.52}, {'connected_gene': 'TMPRSS11BNL', 'score': 4.38}, {'connected_gene': 'APOOP4', 'score': 0.26}]
chr4 GH04I067712 67712967 67715176 1.23 [{'connected_gene': 'UBA6', 'score': 26.62}, {'connected_gene': 'UBA6-AS1', 'score': 21.93}, {'connected_gene': 'GNRHR', 'score': 10.61}, {'connected_gene': 'STAP1', 'score': 10.19}, {'connected_gene': 'ST3GAL1P1', 'score': 0.77}, {'connected_gene': 'GC04M067708', 'score': 0.44}, {'connected_gene': 'GC04P067653', 'score': 0.21}]
chr4 GH04I067680 67680131 67682837 0.56 [{'connected_gene': 'UBA6', 'score': 27.03}, {'connected_gene': 'UBA6-AS1', 'score': 21.57}, {'connected_gene': 'STAP1', 'score': 11.47}, {'connected_gene': 'UGT2B15', 'score': 4.07}, {'connected_gene': 'GC04P067653', 'score': 0.31}]
chr4 GH04I067697 67697786 67702591 2.45 [{'connected_gene': 'UBA6', 'score': 594.91}, {'connected_gene': 'UBA6-AS1', 'score': 571.97}, {'connected_gene': 'CENPC', 'score': 30.56}, {'connected_gene': 'YTHDC1', 'score': 13.23}, {'connected_gene': 'ENSG00000270257', 'score': 11.97}, {'connected_gene': 'STAP1', 'score': 10.92}, {'connected_gene': 'TMPRSS11D', 'score': 9.67}, {'connected_gene': 'GC04P067653', 'score': 0.25}]
chr4 GH04I067543 67543755 67546510 2.23 [{'connected_gene': 'CENPC', 'score': 593.82}, {'connected_gene': 'UBA6', 'score': 24.54}, {'connected_gene': 'YTHDC1', 'score': 13.46}, {'connected_gene': 'LOC101927237', 'score': 11.52}, {'connected_gene': 'ENSG00000270257', 'score': 10.95}, {'connected_gene': 'STAP1', 'score': 10.02}, {'connected_gene': 'GCOM2', 'score': 4.31}, {'connected_gene': 'GC04M067379', 'score': 0.37}]
chr4 GH04I067574 67574691 67577532 1.3 [{'connected_gene': 'CENPC', 'score': 34.47}, {'connected_gene': 'UBA6', 'score': 10.77}, {'connected_gene': 'STAP1', 'score': 9.69}, {'connected_gene': 'LOC101927237', 'score': 6.91}, {'connected_gene': 'GC04P067584', 'score': 0.44}]
chr4 GH04I067725 67724367 67728734 1.17 [{'connected_gene': 'LOC100419046', 'score': 550.77}, {'connected_gene': 'UBA6', 'score': 26.86}, {'connected_gene': 'GNRHR', 'score': 11.73}, {'connected_gene': 'TMPRSS11D', 'score': 9.78}, {'connected_gene': 'GC04P067742', 'score': 0.37}, {'connected_gene': 'UBA6-AS1', 'score': 0.31}, {'connected_gene': 'GC04P067653', 'score': 0.19}]
chr4 GH04I067720 67720410 67722857 1.39 [{'connected_gene': 'PIR51733', 'score': 550.77}, {'connected_gene': 'PIR61967', 'score': 550.77}, {'connected_gene': 'UBA6', 'score': 33.34}, {'connected_gene': 'UBA6-AS1', 'score': 21.88}, {'connected_gene': 'CENPC', 'score': 19.77}, {'connected_gene': 'YTHDC1', 'score': 13.23}, {'connected_gene': 'ENSG00000270257', 'score': 11.94}, {'connected_gene': 'GNRHR', 'score': 11.15}, {'connected_gene': 'LOC100419862', 'score': 0.77}, {'connected_gene': 'GC04P067653', 'score': 0.2}]
chr4 GH04I067672 67672431 67672588 0.22 [{'connected_gene': 'GC04P067653', 'score': 0.37}, {'connected_gene': 'UBA6', 'score': 0.31}]

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