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
ENST00000366922 [[220267443, 220267825], [220269445, 220269568], [220273831, 220273991], [220275470, 220275619], [220275704, 220275754], [220275836, 220275946], [220276028, 220276119], [220276788, 220276904], [220279232, 220279402], [220280402, 220280493], [220284127, 220284279], [220287655, 220287816], [220298578, 220298681], [220300091, 220300185], [220307743, 220307852], [220310150, 220310253], [220311259, 220311385], [220312349, 220312481], [220313524, 220313631], [220315144, 220315290], [220316285, 220316476], [220318850, 220318995], [220320834, 220321380]] [[220267774, 220267825], [220269445, 220269568], [220273831, 220273991], [220275470, 220275619], [220275704, 220275754], [220275836, 220275946], [220276028, 220276119], [220276788, 220276904], [220279232, 220279402], [220280402, 220280493], [220284127, 220284279], [220287655, 220287816], [220298578, 220298681], [220300091, 220300185], [220307743, 220307852], [220310150, 220310253], [220311259, 220311385], [220312349, 220312481], [220313524, 220313631], [220315144, 220315290], [220316285, 220316476], [220318850, 220318995], [220320834, 220320977]]
ENST00000302637 [[220267454, 220267825], [220269445, 220269568], [220273831, 220273991], [220275470, 220275619], [220275704, 220275754], [220275836, 220275946], [220276028, 220276119], [220276788, 220276904], [220279232, 220279402], [220280402, 220280493], [220284127, 220284279], [220287655, 220287816], [220298578, 220298681], [220300091, 220300185], [220307743, 220307852], [220310150, 220310253], [220311259, 220311385], [220312349, 220312481], [220313524, 220313631], [220315144, 220315290], [220316285, 220316476], [220318850, 220318995], [220320834, 220321376]] [[220267558, 220267825], [220269445, 220269568], [220273831, 220273991], [220275470, 220275619], [220275704, 220275754], [220275836, 220275946], [220276028, 220276119], [220276788, 220276904], [220279232, 220279402], [220280402, 220280493], [220284127, 220284279], [220287655, 220287816], [220298578, 220298681], [220300091, 220300185], [220307743, 220307852], [220310150, 220310253], [220311259, 220311385], [220312349, 220312481], [220313524, 220313631], [220315144, 220315290], [220316285, 220316476], [220318850, 220318995], [220320834, 220320977]]
ENST00000490891 [[220287792, 220287816], [220298578, 220298681], [220300091, 220300185], [220307743, 220307852], [220307956, 220308019], [220308134, 220308188]] None
ENST00000488777 [[220310983, 220311385], [220312349, 220312481], [220313524, 220313560]] None
ENST00000467924 [[220313522, 220313631], [220315144, 220315290], [220316285, 220316686]] None
NM_018060 [[220267454, 220267825], [220269445, 220269568], [220273831, 220273991], [220275470, 220275619], [220275704, 220275754], [220275836, 220275946], [220276028, 220276119], [220276788, 220276904], [220279232, 220279402], [220280402, 220280493], [220284127, 220284279], [220287655, 220287816], [220298578, 220298681], [220300091, 220300185], [220307743, 220307852], [220310150, 220310253], [220311259, 220311385], [220312349, 220312481], [220313524, 220313631], [220315144, 220315290], [220316285, 220316476], [220318850, 220318995], [220320834, 220321383]] [[220267558, 220267825], [220269445, 220269568], [220273831, 220273991], [220275470, 220275619], [220275704, 220275754], [220275836, 220275946], [220276028, 220276119], [220276788, 220276904], [220279232, 220279402], [220280402, 220280493], [220284127, 220284279], [220287655, 220287816], [220298578, 220298681], [220300091, 220300185], [220307743, 220307852], [220310150, 220310253], [220311259, 220311385], [220312349, 220312481], [220313524, 220313631], [220315144, 220315290], [220316285, 220316476], [220318850, 220318995], [220320834, 220320977]]
Promoter
Chrom Start End Description
chr1 220267429 220267510 CAGE_peak_1_at_IARS2_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr1 GH01I220158 220158698 220160410 0.31 [{'connected_gene': 'IARS2', 'score': 12.65}, {'connected_gene': 'MIR215', 'score': 12.37}, {'connected_gene': 'MIR194-1', 'score': 12.37}, {'connected_gene': 'EPRS', 'score': 10.46}, {'connected_gene': 'RAB3GAP2', 'score': 6.86}, {'connected_gene': 'GC01P220165', 'score': 0.44}, {'connected_gene': 'RPS15AP12', 'score': 0.37}]
chr1 GH01I220114 220114744 220125848 1.22 [{'connected_gene': 'EPRS', 'score': 16.61}, {'connected_gene': 'RPS15AP12', 'score': 13.7}, {'connected_gene': 'ZC3H11B', 'score': 12.57}, {'connected_gene': 'RIMKLBP2', 'score': 10.4}, {'connected_gene': 'RAB3GAP2', 'score': 4.49}, {'connected_gene': 'ENSG00000272823', 'score': 4.21}, {'connected_gene': 'GC01P220118', 'score': 0.77}, {'connected_gene': 'MIR215', 'score': 0.77}, {'connected_gene': 'MIR194-1', 'score': 0.77}, {'connected_gene': 'IARS2', 'score': 0.31}]
chr1 GH01I220113 220113113 220114009 0.6 [{'connected_gene': 'LOC105373475', 'score': 550.77}, {'connected_gene': 'EPRS', 'score': 16.88}, {'connected_gene': 'RPS15AP12', 'score': 12.82}, {'connected_gene': 'MIR215', 'score': 0.77}, {'connected_gene': 'IARS2', 'score': 0.37}]
chr1 GH01I220136 220136522 220138325 0.4 [{'connected_gene': 'RPS15AP12', 'score': 0.44}, {'connected_gene': 'MIR194-1', 'score': 0.37}, {'connected_gene': 'IARS2', 'score': 0.26}]
chr1 GH01I220092 220092968 220095438 2.01 [{'connected_gene': 'GC01M220094', 'score': 550.77}, {'connected_gene': 'IARS2', 'score': 550.77}, {'connected_gene': 'EPRS', 'score': 5.9}]