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
ENST00000350721 [[142168078, 142168444], [142171969, 142172075], [142176445, 142176597], [142177799, 142177953], [142178068, 142178225], [142180781, 142180932], [142183938, 142184082], [142185165, 142185375], [142186775, 142186910], [142188178, 142188411], [142188927, 142189025], [142203981, 142204124], [142211973, 142212153], [142215202, 142215362], [142215854, 142216034], [142217438, 142217616], [142218468, 142218560], [142222203, 142222295], [142223980, 142224145], [142226772, 142226951], [142231101, 142231312], [142232342, 142232480], [142234236, 142234357], [142238510, 142238626], [142241569, 142241683], [142242834, 142243041], [142253921, 142254047], [142254949, 142255043], [142257323, 142257467], [142259745, 142259876], [142261506, 142261599], [142266566, 142266752], [142268320, 142268515], [142268973, 142269144], [142272068, 142272240], [142272481, 142272582], [142272666, 142272857], [142274718, 142274981], [142275224, 142275417], [142277465, 142277618], [142278092, 142278283], [142279104, 142279296], [142280084, 142280263], [142281073, 142281951], [142284962, 142285103], [142286904, 142286996], [142297487, 142297668]] [[142168270, 142168444], [142171969, 142172075], [142176445, 142176597], [142177799, 142177953], [142178068, 142178225], [142180781, 142180932], [142183938, 142184082], [142185165, 142185375], [142186775, 142186910], [142188178, 142188411], [142188927, 142189025], [142203981, 142204124], [142211973, 142212153], [142215202, 142215362], [142215854, 142216034], [142217438, 142217616], [142218468, 142218560], [142222203, 142222295], [142223980, 142224145], [142226772, 142226951], [142231101, 142231312], [142232342, 142232480], [142234236, 142234357], [142238510, 142238626], [142241569, 142241683], [142242834, 142243041], [142253921, 142254047], [142254949, 142255043], [142257323, 142257467], [142259745, 142259876], [142261506, 142261599], [142266566, 142266752], [142268320, 142268515], [142268973, 142269144], [142272068, 142272240], [142272481, 142272582], [142272666, 142272857], [142274718, 142274981], [142275224, 142275417], [142277465, 142277618], [142278092, 142278283], [142279104, 142279296], [142280084, 142280263], [142281073, 142281951], [142284962, 142285103], [142286904, 142286996], [142297487, 142297546]]
ENST00000383101 [[142168079, 142168444], [142171969, 142172075], [142176445, 142176597], [142177799, 142177953], [142178068, 142178225], [142180781, 142180932], [142183938, 142184082], [142185165, 142185375], [142186775, 142186910], [142188178, 142188411], [142188927, 142189025], [142203981, 142204124], [142211973, 142212153], [142215202, 142215362], [142215854, 142216034], [142217438, 142217616], [142218468, 142218560], [142222203, 142222295], [142223980, 142224145], [142226772, 142226951], [142231101, 142231312], [142232342, 142232480], [142234236, 142234357], [142238510, 142238626], [142241569, 142241683], [142242834, 142243041], [142253921, 142254047], [142254949, 142255043], [142257323, 142257467], [142259745, 142259876], [142261506, 142261599], [142266566, 142266752], [142268320, 142268515], [142268973, 142269144], [142272068, 142272240], [142272481, 142272582], [142272666, 142272857], [142274718, 142274981], [142275224, 142275417], [142277465, 142277618], [142278092, 142278283], [142280084, 142280263], [142281073, 142281951], [142284962, 142285103], [142286904, 142286996], [142297487, 142297668]] [[142168270, 142168444], [142171969, 142172075], [142176445, 142176597], [142177799, 142177953], [142178068, 142178225], [142180781, 142180932], [142183938, 142184082], [142185165, 142185375], [142186775, 142186910], [142188178, 142188411], [142188927, 142189025], [142203981, 142204124], [142211973, 142212153], [142215202, 142215362], [142215854, 142216034], [142217438, 142217616], [142218468, 142218560], [142222203, 142222295], [142223980, 142224145], [142226772, 142226951], [142231101, 142231312], [142232342, 142232480], [142234236, 142234357], [142238510, 142238626], [142241569, 142241683], [142242834, 142243041], [142253921, 142254047], [142254949, 142255043], [142257323, 142257467], [142259745, 142259876], [142261506, 142261599], [142266566, 142266752], [142268320, 142268515], [142268973, 142269144], [142272068, 142272240], [142272481, 142272582], [142272666, 142272857], [142274718, 142274981], [142275224, 142275417], [142277465, 142277618], [142278092, 142278283], [142280084, 142280263], [142281073, 142281951], [142284962, 142285103], [142286904, 142286996], [142297487, 142297546]]
ENST00000504521 [[142168076, 142168444], [142169307, 142169444], [142171969, 142172075], [142176445, 142176552]] [[142169414, 142169444], [142171969, 142172075], [142176445, 142176552]]
ENST00000515810 [[142168078, 142168444], [142169307, 142169444], [142171958, 142172008]] [[142169374, 142169444], [142171958, 142172008]]
ENST00000513291 [[142168079, 142172075], [142176445, 142176597], [142177799, 142177953], [142178068, 142178225], [142180781, 142180932], [142183938, 142184082], [142185165, 142185375], [142186775, 142186910], [142188178, 142188269]] [[142171897, 142172075], [142176445, 142176597], [142177799, 142177953], [142178068, 142178225], [142180781, 142180932], [142183938, 142184082], [142185165, 142185375], [142186775, 142186910], [142188178, 142188269]]
ENST00000515107 [[142168159, 142168444], [142171969, 142172075], [142176445, 142176600]] None
ENST00000511016 [[142171594, 142172075], [142176445, 142176645]] None
ENST00000514393 [[142215231, 142215362], [142215854, 142216034], [142217438, 142217616], [142217971, 142218034]] [[142217526, 142217616], [142217971, 142218034]]
ENST00000507620 [[142215238, 142215362], [142215975, 142216034], [142217438, 142217616], [142218468, 142218944]] None
ENST00000515863 [[142274911, 142274981], [142275224, 142275417], [142277465, 142277843]] None
ENST00000515149 [[142275224, 142275417], [142277465, 142277618], [142278092, 142278283], [142280084, 142280263], [142281073, 142281286]] [[142275224, 142275417], [142277465, 142277618], [142278092, 142278283], [142280084, 142280263], [142281073, 142281286]]
ENST00000507148 [[142279180, 142279296], [142280084, 142280263], [142281073, 142281190], [142284962, 142285103], [142286904, 142286996], [142297487, 142297566]] [[142281179, 142281190], [142284962, 142285103], [142286904, 142286996], [142297487, 142297546]]
NM_001184 [[142168076, 142168444], [142171969, 142172075], [142176445, 142176597], [142177799, 142177953], [142178068, 142178225], [142180781, 142180932], [142183938, 142184082], [142185165, 142185375], [142186775, 142186910], [142188178, 142188411], [142188927, 142189025], [142203981, 142204124], [142211973, 142212153], [142215202, 142215362], [142215854, 142216034], [142217438, 142217616], [142218468, 142218560], [142222203, 142222295], [142223980, 142224145], [142226772, 142226951], [142231101, 142231312], [142232342, 142232480], [142234236, 142234357], [142238510, 142238626], [142241569, 142241683], [142242834, 142243041], [142253921, 142254047], [142254949, 142255043], [142257323, 142257467], [142259745, 142259876], [142261506, 142261599], [142266566, 142266752], [142268320, 142268515], [142268973, 142269144], [142272068, 142272240], [142272481, 142272582], [142272666, 142272857], [142274718, 142274981], [142275224, 142275417], [142277465, 142277618], [142278092, 142278283], [142279104, 142279296], [142280084, 142280263], [142281073, 142281951], [142284962, 142285103], [142286904, 142286996], [142297487, 142297668]] [[142168270, 142168444], [142171969, 142172075], [142176445, 142176597], [142177799, 142177953], [142178068, 142178225], [142180781, 142180932], [142183938, 142184082], [142185165, 142185375], [142186775, 142186910], [142188178, 142188411], [142188927, 142189025], [142203981, 142204124], [142211973, 142212153], [142215202, 142215362], [142215854, 142216034], [142217438, 142217616], [142218468, 142218560], [142222203, 142222295], [142223980, 142224145], [142226772, 142226951], [142231101, 142231312], [142232342, 142232480], [142234236, 142234357], [142238510, 142238626], [142241569, 142241683], [142242834, 142243041], [142253921, 142254047], [142254949, 142255043], [142257323, 142257467], [142259745, 142259876], [142261506, 142261599], [142266566, 142266752], [142268320, 142268515], [142268973, 142269144], [142272068, 142272240], [142272481, 142272582], [142272666, 142272857], [142274718, 142274981], [142275224, 142275417], [142277465, 142277618], [142278092, 142278283], [142279104, 142279296], [142280084, 142280263], [142281073, 142281951], [142284962, 142285103], [142286904, 142286996], [142297487, 142297546]]
Promoter
Chrom Start End Description
chr3 142297558 142297642 CAGE_peak_1_at_ATR_5end
chr3 142297669 142297691 CAGE_peak_2_at_ATR_5end