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
ENST00000297668 [[39072763, 39074008], [39078381, 39078453], [39078686, 39078917], [39085732, 39085820], [39086712, 39086846], [39088419, 39088644], [39099907, 39100147], [39102493, 39102712], [39103740, 39103911], [39109156, 39109284], [39118099, 39118256], [39132928, 39133132], [39140515, 39140635], [39144236, 39144343], [39149802, 39149974], [39165929, 39166073], [39171365, 39171627], [39175945, 39176089], [39177314, 39177499], [39178153, 39178357], [39193124, 39193272], [39238989, 39239183], [39266892, 39267003], [39287976, 39288135]] [[39073886, 39074008], [39078381, 39078453], [39078686, 39078917], [39085732, 39085820], [39086712, 39086846], [39088419, 39088644], [39099907, 39100147], [39102493, 39102712], [39103740, 39103911], [39109156, 39109284], [39118099, 39118256], [39132928, 39133132], [39140515, 39140635], [39144236, 39144343], [39149802, 39149974], [39165929, 39166073], [39171365, 39171627], [39175945, 39176089], [39177314, 39177499], [39178153, 39178357], [39193124, 39193272], [39238989, 39239183], [39266892, 39267003], [39287976, 39288061]]
ENST00000377656 [[39073733, 39074008], [39078381, 39078453], [39078686, 39078917], [39085732, 39085820], [39086712, 39086846], [39088419, 39088644], [39102493, 39102712], [39103740, 39103911], [39109156, 39109284], [39118099, 39118256], [39132928, 39133129], [39140515, 39140635], [39144236, 39144343], [39149802, 39149974], [39165929, 39166073], [39171365, 39171627], [39175945, 39176089], [39177314, 39177499], [39178153, 39178357], [39193124, 39193272], [39238989, 39239183], [39266892, 39267003], [39287976, 39288205]] [[39073886, 39074008], [39078381, 39078453], [39078686, 39078917], [39085732, 39085820], [39086712, 39086846], [39088419, 39088644], [39102493, 39102712], [39103740, 39103911], [39109156, 39109284], [39118099, 39118256], [39132928, 39133129], [39140515, 39140635], [39144236, 39144343], [39149802, 39149974], [39165929, 39166073], [39171365, 39171627], [39175945, 39176089], [39177314, 39177499], [39178153, 39178357], [39193124, 39193272], [39238989, 39239183], [39266892, 39267003], [39287976, 39288061]]
ENST00000358144 [[39084973, 39086846], [39088419, 39088644], [39099907, 39100147], [39102493, 39102712], [39103740, 39103911], [39109156, 39109284], [39118099, 39118256], [39132928, 39133132], [39140515, 39140635], [39144236, 39144343], [39149802, 39149974], [39165929, 39166073], [39171365, 39171627], [39175945, 39176089], [39177314, 39177499], [39178153, 39178357], [39193124, 39193272], [39238989, 39239171]] [[39086682, 39086846], [39088419, 39088644], [39099907, 39100147], [39102493, 39102712], [39103740, 39103911], [39109156, 39109284], [39118099, 39118256], [39132928, 39133132], [39140515, 39140635], [39144236, 39144343], [39149802, 39149974], [39165929, 39166073], [39171365, 39171627], [39175945, 39176089], [39177314, 39177499], [39178153, 39178357], [39193124, 39193272], [39238989, 39239115]]
ENST00000443583 [[39103677, 39103911], [39109156, 39109284], [39132928, 39133129], [39140515, 39140635], [39165929, 39166073], [39171365, 39171627], [39175945, 39176089], [39177314, 39177499], [39178153, 39178357], [39193124, 39193272], [39238989, 39239183], [39266892, 39267003], [39287976, 39288312]] [[39109267, 39109284], [39132928, 39133129], [39140515, 39140635], [39165929, 39166073], [39171365, 39171627], [39175945, 39176089], [39177314, 39177499], [39178153, 39178357], [39193124, 39193272], [39238989, 39239183], [39266892, 39267003], [39287976, 39288061]]
ENST00000323947 [[39117919, 39118256], [39132928, 39133129], [39140515, 39140635], [39165929, 39166073], [39171365, 39171627], [39175945, 39176089], [39177314, 39177499], [39178153, 39178357], [39193124, 39193272], [39238989, 39239183], [39266892, 39267003], [39287976, 39288092]] [[39118095, 39118256], [39132928, 39133129], [39140515, 39140635], [39165929, 39166073], [39171365, 39171627], [39175945, 39176089], [39177314, 39177499], [39178153, 39178357], [39193124, 39193272], [39238989, 39239183], [39266892, 39267003], [39287976, 39288061]]
ENST00000377659 [[39117923, 39118256], [39132928, 39133129], [39140515, 39140635], [39144236, 39144343], [39149802, 39149974], [39165929, 39166073], [39171365, 39171627], [39175945, 39176089], [39177314, 39177499], [39178153, 39178357], [39193124, 39193272], [39238989, 39239183], [39266892, 39267003], [39287976, 39288300]] [[39118095, 39118256], [39132928, 39133129], [39140515, 39140635], [39144236, 39144343], [39149802, 39149974], [39165929, 39166073], [39171365, 39171627], [39175945, 39176089], [39177314, 39177499], [39178153, 39178357], [39193124, 39193272], [39238989, 39239183], [39266892, 39267003], [39287976, 39288061]]
ENST00000377653 [[39172782, 39174537], [39175945, 39176089], [39177314, 39177499], [39178153, 39178357], [39193124, 39193272], [39238989, 39239183], [39266892, 39267003]] None
ENST00000493965 [[39073670, 39074008], [39078299, 39078453], [39085732, 39085820], [39086712, 39086846], [39088419, 39088470]] None
ENST00000477002 [[39078814, 39078917], [39085732, 39085820], [39086045, 39086145]] None
ENST00000483502 [[39099811, 39100161], [39102493, 39102712], [39103710, 39103911]] None
ENST00000448573 [[39103675, 39103911], [39118099, 39118256], [39132928, 39133129], [39140515, 39140573]] None
ENST00000495573 [[39103687, 39103911], [39106481, 39106604], [39109156, 39109284]] None
ENST00000469061 [[39139746, 39140064], [39140515, 39140614]] None
NM_033655 [[39072763, 39074008], [39078381, 39078453], [39078686, 39078917], [39085732, 39085820], [39086712, 39086846], [39088419, 39088644], [39099907, 39100147], [39102493, 39102712], [39103740, 39103911], [39109156, 39109284], [39118099, 39118256], [39132928, 39133132], [39140515, 39140635], [39144236, 39144343], [39149802, 39149974], [39165929, 39166073], [39171365, 39171627], [39175945, 39176089], [39177314, 39177499], [39178153, 39178357], [39193124, 39193272], [39238989, 39239183], [39266892, 39267003], [39287976, 39288300]] [[39073886, 39074008], [39078381, 39078453], [39078686, 39078917], [39085732, 39085820], [39086712, 39086846], [39088419, 39088644], [39099907, 39100147], [39102493, 39102712], [39103740, 39103911], [39109156, 39109284], [39118099, 39118256], [39132928, 39133132], [39140515, 39140635], [39144236, 39144343], [39149802, 39149974], [39165929, 39166073], [39171365, 39171627], [39175945, 39176089], [39177314, 39177499], [39178153, 39178357], [39193124, 39193272], [39238989, 39239183], [39266892, 39267003], [39287976, 39288061]]

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr9 GH09I038685 38685244 38686240 0.38 [{'connected_gene': 'CNTNAP3', 'score': 14.23}, {'connected_gene': 'FAM201A', 'score': 5.24}, {'connected_gene': 'RNU6-765P', 'score': 0.44}, {'connected_gene': 'FAM240B', 'score': 0.29}]
chr9 GH09I039286 39286400 39289000 1.36 [{'connected_gene': 'CNTNAP3', 'score': 550.77}, {'connected_gene': 'LOC100420437', 'score': 0.31}]
chr9 GH09I038680 38680220 38683568 1.33 [{'connected_gene': 'RNU6-765P', 'score': 550.77}, {'connected_gene': 'CNTNAP3', 'score': 16.91}, {'connected_gene': 'ENSG00000273036', 'score': 4.46}, {'connected_gene': 'FAM240B', 'score': 0.28}]
chr9 GH09I039232 39232402 39232800 0.2 [{'connected_gene': 'LOC100420437', 'score': 0.31}, {'connected_gene': 'RN7SL640P', 'score': 0.26}, {'connected_gene': 'CNTNAP3', 'score': 0.22}]
chr9 GH09I039078 39078267 39079203 0.43 [{'connected_gene': 'PIR34742', 'score': 0.23}, {'connected_gene': 'VN2R3P', 'score': 0.21}, {'connected_gene': 'CNTNAP3', 'score': 0.08}]