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
ENST00000437766 [[13215715, 13215895], [13216080, 13216210], [13216300, 13216420], [13218387, 13218464], [13218564, 13218673], [13220194, 13220280], [13220363, 13220498], [13220582, 13220652], [13220728, 13220815], [13220971, 13221120], [13223518, 13223631], [13223709, 13223825], [13226092, 13226280], [13226439, 13226582], [13226810, 13226866], [13226959, 13227463]] [[13215748, 13215895], [13216080, 13216210], [13216300, 13216420], [13218387, 13218464], [13218564, 13218673], [13220194, 13220280], [13220363, 13220498], [13220582, 13220652], [13220728, 13220815], [13220971, 13221120], [13223518, 13223631], [13223709, 13223825], [13226092, 13226280], [13226439, 13226582], [13226810, 13226866], [13226959, 13227213]]
ENST00000357720 [[13215715, 13215895], [13216080, 13216210], [13216300, 13216420], [13218387, 13218464], [13218564, 13218673], [13220194, 13220280], [13220363, 13220498], [13220582, 13220652], [13220728, 13220815], [13220971, 13221120], [13223518, 13223631], [13223709, 13223825], [13226092, 13226280], [13226439, 13226582], [13226810, 13226866], [13226959, 13227245], [13227466, 13227563]] [[13215748, 13215895], [13216080, 13216210], [13216300, 13216420], [13218387, 13218464], [13218564, 13218673], [13220194, 13220280], [13220363, 13220498], [13220582, 13220652], [13220728, 13220815], [13220971, 13221120], [13223518, 13223631], [13223709, 13223825], [13226092, 13226280], [13226439, 13226582], [13226810, 13226866], [13226959, 13227213]]
ENST00000221504 [[13215720, 13215895], [13216080, 13216210], [13216300, 13216420], [13218387, 13218464], [13218564, 13218673], [13220194, 13220280], [13220363, 13220498], [13220582, 13220652], [13220971, 13221120], [13223518, 13223631], [13223709, 13223825], [13226092, 13226280], [13226439, 13226582], [13226810, 13226866], [13226959, 13227471]] [[13215748, 13215895], [13216080, 13216210], [13216300, 13216420], [13218387, 13218464], [13218564, 13218673], [13220194, 13220280], [13220363, 13220498], [13220582, 13220652], [13220971, 13221120], [13223518, 13223631], [13223709, 13223825], [13226092, 13226280], [13226439, 13226582], [13226810, 13226866], [13226959, 13227213]]
ENST00000593157 [[13215720, 13215895], [13216080, 13216420], [13218387, 13218464], [13218564, 13218673], [13220194, 13220280], [13220363, 13220498], [13220582, 13220652], [13220728, 13220815], [13220971, 13221120], [13223518, 13223631], [13223709, 13223825], [13226092, 13226280], [13226439, 13226582], [13226810, 13226866], [13226959, 13227154], [13227466, 13227554]] None
ENST00000592062 [[13215720, 13215895], [13216080, 13216210], [13216300, 13216420], [13218387, 13218464], [13218564, 13218673], [13220194, 13220280], [13220363, 13220498], [13220582, 13220652], [13220728, 13220815], [13220971, 13221120], [13223518, 13223631], [13223709, 13223825], [13226092, 13226280], [13226439, 13226582], [13226810, 13226866], [13226959, 13227245], [13227466, 13227926], [13228302, 13228381]] [[13215748, 13215895], [13216080, 13216210], [13216300, 13216420], [13218387, 13218464], [13218564, 13218673], [13220194, 13220280], [13220363, 13220498], [13220582, 13220652], [13220728, 13220815], [13220971, 13221120], [13223518, 13223631], [13223709, 13223825], [13226092, 13226280], [13226439, 13226582], [13226810, 13226866], [13226959, 13227213]]
ENST00000588511 [[13215752, 13215895], [13216080, 13216420], [13218387, 13218464], [13218564, 13218673], [13220194, 13220280], [13220363, 13220498], [13220582, 13220652], [13220728, 13220815], [13220971, 13221120], [13223518, 13223631], [13223722, 13223825], [13226092, 13226280], [13226439, 13226582], [13226810, 13227245], [13227466, 13227539]] None
ENST00000585435 [[13218415, 13218673], [13220194, 13220280], [13220363, 13220456]] None
ENST00000586830 [[13218588, 13218673], [13220194, 13220280], [13220363, 13220546]] None
ENST00000587487 [[13220458, 13220498], [13220582, 13220652], [13220728, 13220815], [13220971, 13221120], [13223518, 13223631], [13223709, 13223825], [13226092, 13226280], [13227466, 13227516]] [[13220458, 13220498], [13220582, 13220652], [13220728, 13220815], [13220971, 13221120], [13223518, 13223631]]
ENST00000592814 [[13220971, 13221120], [13223722, 13223825], [13226092, 13226280], [13226439, 13226582], [13226810, 13226866], [13226959, 13227245], [13227466, 13227526]] [[13220971, 13221120], [13223722, 13223825], [13226092, 13226280], [13226439, 13226582], [13226810, 13226866], [13226959, 13227213]]
ENST00000587633 [[13220999, 13221120], [13223518, 13223631], [13223709, 13223825], [13226092, 13226216], [13226439, 13226582], [13226810, 13226841]] [[13223817, 13223825], [13226092, 13226216], [13226439, 13226582], [13226810, 13226841]]
ENST00000593257 [[13223768, 13223825], [13226092, 13226280], [13226810, 13226973]] None
ENST00000591717 [[13223814, 13223825], [13226092, 13226280], [13226959, 13227245], [13227466, 13227563]] [[13226216, 13226280], [13226959, 13227213]]
ENST00000588813 [[13226192, 13226280], [13226439, 13226582], [13226810, 13226866], [13227000, 13227154], [13227466, 13227547]] None
ENST00000591425 [[13226236, 13226280], [13226919, 13227245], [13227466, 13227550]] None
ENST00000592729 [[13226254, 13226280], [13226919, 13227436]] None
ENST00000588746 [[13226271, 13226280], [13226439, 13226582], [13226919, 13227245], [13227466, 13227550]] [[13226955, 13227213]]
ENST00000586224 [[13226277, 13226280], [13226439, 13226582], [13226810, 13226866], [13227000, 13227245], [13227466, 13227562]] [[13226509, 13226582], [13226810, 13226866], [13227000, 13227213]]
ENST00000592892 [[13226440, 13226582], [13226810, 13226866], [13226985, 13227245], [13227466, 13227562]] None
ENST00000585622 [[13226515, 13227245], [13227466, 13227535]] None
ENST00000590812 [[13226649, 13227154], [13227466, 13227573]] None
ENST00000588229 [[13226684, 13226866], [13226959, 13227245], [13227466, 13227550]] [[13226684, 13226866], [13226959, 13227213]]
ENST00000592606 [[13226760, 13227245], [13227466, 13227573]] None
NM_017722 [[13215713, 13215895], [13216080, 13216210], [13216300, 13216420], [13218387, 13218464], [13218564, 13218673], [13220194, 13220280], [13220363, 13220498], [13220582, 13220652], [13220728, 13220815], [13220971, 13221120], [13223518, 13223631], [13223709, 13223825], [13226092, 13226280], [13226439, 13226582], [13226810, 13226866], [13226959, 13227463]] [[13215748, 13215895], [13216080, 13216210], [13216300, 13216420], [13218387, 13218464], [13218564, 13218673], [13220194, 13220280], [13220363, 13220498], [13220582, 13220652], [13220728, 13220815], [13220971, 13221120], [13223518, 13223631], [13223709, 13223825], [13226092, 13226280], [13226439, 13226582], [13226810, 13226866], [13226959, 13227213]]
NM_001142554 [[13215713, 13215895], [13216080, 13216210], [13216300, 13216420], [13218387, 13218464], [13218564, 13218673], [13220194, 13220280], [13220363, 13220498], [13220582, 13220652], [13220971, 13221120], [13223518, 13223631], [13223709, 13223825], [13226092, 13226280], [13226439, 13226582], [13226810, 13226866], [13226959, 13227463]] [[13215748, 13215895], [13216080, 13216210], [13216300, 13216420], [13218387, 13218464], [13218564, 13218673], [13220194, 13220280], [13220363, 13220498], [13220582, 13220652], [13220971, 13221120], [13223518, 13223631], [13223709, 13223825], [13226092, 13226280], [13226439, 13226582], [13226810, 13226866], [13226959, 13227213]]
NM_001136035 [[13215713, 13215895], [13216080, 13216210], [13216300, 13216420], [13218387, 13218464], [13218564, 13218673], [13220194, 13220280], [13220363, 13220498], [13220582, 13220652], [13220728, 13220815], [13220971, 13221120], [13223518, 13223631], [13223709, 13223825], [13226092, 13226280], [13226439, 13226582], [13226810, 13226866], [13226959, 13227245], [13227466, 13227563]] [[13215748, 13215895], [13216080, 13216210], [13216300, 13216420], [13218387, 13218464], [13218564, 13218673], [13220194, 13220280], [13220363, 13220498], [13220582, 13220652], [13220728, 13220815], [13220971, 13221120], [13223518, 13223631], [13223709, 13223825], [13226092, 13226280], [13226439, 13226582], [13226810, 13226866], [13226959, 13227213]]
Promoter
Chrom Start End Description
chr19 13227173 13227192 CAGE_peak_3_at_TRMT1_5end
chr19 13227207 13227221 CAGE_peak_5_at_TRMT1_5end
chr19 13227319 13227326 CAGE_peak_6_at_TRMT1_5end
chr19 13227484 13227500 CAGE_peak_2_at_TRMT1_5end
chr19 13227514 13227527 CAGE_peak_4_at_TRMT1_5end
chr19 13227534 13227570 CAGE_peak_1_at_TRMT1_5end

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