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
ENST00000448220 [[49721379, 49721622], [49721746, 49721886], [49721982, 49722089], [49722170, 49722268], [49722444, 49722523]] [[49721460, 49721622], [49721746, 49721886], [49721982, 49722089], [49722170, 49722268], [49722444, 49722523]]
ENST00000449682 [[49721379, 49721622], [49721746, 49721886], [49721982, 49722089], [49722170, 49722317], [49722444, 49722522], [49722694, 49722815], [49722903, 49722939], [49723028, 49723165], [49723292, 49723395], [49723494, 49723625], [49723745, 49723914], [49724116, 49724235], [49724379, 49724500], [49724581, 49724718], [49724796, 49724911], [49724988, 49725101], [49725182, 49725330], [49726030, 49726486]] [[49721460, 49721622], [49721746, 49721886], [49721982, 49722089], [49722170, 49722317], [49722444, 49722522], [49722694, 49722815], [49722903, 49722939], [49723028, 49723165], [49723292, 49723395], [49723494, 49723625], [49723745, 49723914], [49724116, 49724235], [49724379, 49724500], [49724581, 49724718], [49724796, 49724911], [49724988, 49725101], [49725182, 49725330], [49726030, 49726124]]
ENST00000479115 [[49721408, 49721622], [49721746, 49721886], [49721982, 49722089], [49722170, 49722939], [49723028, 49723914], [49724116, 49724285]] None
ENST00000492329 [[49721408, 49721622], [49721746, 49721886], [49721982, 49722089], [49722170, 49722317], [49722444, 49722522], [49722694, 49722815], [49722903, 49722939], [49723028, 49723914], [49724116, 49724393]] None
ENST00000488350 [[49721408, 49721622], [49721746, 49721886], [49721982, 49722089], [49722170, 49722317], [49722444, 49722518], [49722694, 49722815], [49722903, 49722939], [49723028, 49723914], [49724116, 49724235], [49724379, 49724500], [49724581, 49724911], [49724988, 49725101], [49725182, 49726926]] None
ENST00000493836 [[49721481, 49721622], [49721746, 49721886], [49721982, 49722089], [49722170, 49722317], [49722444, 49722832]] None
ENST00000484144 [[49721757, 49721886], [49721982, 49722731]] None
ENST00000481930 [[49722170, 49722388], [49722694, 49722815], [49722903, 49722939], [49723028, 49723218]] None
ENST00000484269 [[49722170, 49722317], [49722444, 49722522], [49722694, 49722815], [49722903, 49722939], [49723028, 49723165], [49723292, 49723395], [49723494, 49723914], [49724116, 49724235], [49724379, 49724500], [49724581, 49724718], [49724796, 49724895]] None
ENST00000498021 [[49722276, 49722815], [49722903, 49722939], [49723028, 49723307]] None
ENST00000497359 [[49722293, 49722939], [49723028, 49724299]] None
ENST00000383728 [[49722756, 49722815], [49722903, 49722939], [49723028, 49723165], [49723292, 49723395], [49723494, 49723914], [49724116, 49724235], [49724379, 49724500], [49724581, 49724718], [49724796, 49724911], [49724988, 49725101], [49726030, 49726104]] [[49723741, 49723914], [49724116, 49724235], [49724379, 49724500], [49724581, 49724718], [49724796, 49724911], [49724988, 49725101], [49726030, 49726047]]
ENST00000480268 [[49722839, 49722939], [49723028, 49723165], [49723292, 49723703]] None
ENST00000494809 [[49722914, 49722939], [49723028, 49723165], [49723292, 49723395], [49723494, 49723914], [49724116, 49724290]] None
ENST00000468847 [[49723115, 49723395], [49723494, 49723620]] None
ENST00000489007 [[49723177, 49723625], [49723745, 49723914], [49724116, 49724236]] None
ENST00000484673 [[49723317, 49723914], [49724116, 49724235], [49724383, 49724500], [49724581, 49724718], [49724988, 49725101], [49725182, 49725330], [49726030, 49726106]] None
ENST00000492370 [[49723600, 49724500], [49724581, 49724718], [49724988, 49725101], [49725182, 49725330], [49726030, 49726106]] None
ENST00000545762 [[49723741, 49723914], [49724116, 49724235], [49724379, 49724500], [49724581, 49724718], [49724988, 49725101], [49725182, 49725330], [49726030, 49726106]] [[49724455, 49724500], [49724581, 49724718], [49724988, 49725101], [49725182, 49725330], [49726030, 49726082]]
ENST00000494828 [[49724174, 49724235], [49724379, 49724500], [49724581, 49724718], [49724796, 49724911], [49724988, 49725101], [49726030, 49726104]] None
ENST00000490966 [[49724400, 49724500], [49724581, 49725101], [49725182, 49725330], [49726030, 49726091]] None
ENST00000481055 [[49724472, 49724500], [49724581, 49724718], [49724988, 49725101], [49725182, 49725501]] None
ENST00000491943 [[49725245, 49725330], [49726477, 49726934]] None
NM_020998 [[49721379, 49721622], [49721746, 49721886], [49721982, 49722089], [49722170, 49722317], [49722444, 49722522], [49722694, 49722815], [49722903, 49722939], [49723028, 49723165], [49723292, 49723395], [49723494, 49723625], [49723745, 49723914], [49724116, 49724235], [49724379, 49724500], [49724581, 49724718], [49724796, 49724911], [49724988, 49725101], [49725182, 49725330], [49726030, 49726196]] [[49721460, 49721622], [49721746, 49721886], [49721982, 49722089], [49722170, 49722317], [49722444, 49722522], [49722694, 49722815], [49722903, 49722939], [49723028, 49723165], [49723292, 49723395], [49723494, 49723625], [49723745, 49723914], [49724116, 49724235], [49724379, 49724500], [49724581, 49724718], [49724796, 49724911], [49724988, 49725101], [49725182, 49725330], [49726030, 49726124]]
Promoter
Chrom Start End Description
chr1 16971237 16971267 CAGE_peak_1_at_MST1_5end