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
ENST00000378149 [[60989687, 60989928], [60990414, 60990577], [60992810, 60992928], [60993797, 60993916], [60994591, 60994791], [60996142, 60996259], [60997390, 60997535], [60997637, 60997736], [60998853, 60999399]] [[60989872, 60989928], [60990414, 60990577], [60992810, 60992928], [60993797, 60993916], [60994591, 60994791], [60996142, 60996259], [60997390, 60997535], [60997637, 60997736], [60998853, 60999003]]
ENST00000422676 [[60989817, 60989928], [60990414, 60990577], [60992810, 60992928], [60993797, 60993916], [60994591, 60994791], [61015890, 61016007], [61017140, 61017285], [61017387, 61017486], [61018603, 61018929]] [[60989872, 60989928], [60990414, 60990577], [60992810, 60992928], [60993797, 60993916], [60994591, 60994791], [61015890, 61016007], [61017140, 61017285], [61017387, 61017486], [61018603, 61018753]]
ENST00000543193 [[60989822, 60989928], [60990414, 60990885]] None
ENST00000541743 [[60989822, 60989928], [60990414, 60990577], [60992810, 60993117]] None
ENST00000545726 [[60989822, 60989928], [60990414, 60990577], [60992810, 60992928], [60993797, 60994165]] None
ENST00000539581 [[60994581, 60994791], [60996142, 60996259], [60997390, 60997535], [60997637, 60997736], [60998853, 60998924]] None
ENST00000537932 [[60995848, 60996259], [60997390, 60997535], [60997637, 60997736], [60998853, 60999038]] [[60995948, 60996259], [60997390, 60997535], [60997637, 60997736], [60998853, 60999003]]
ENST00000544899 [[60997054, 60997535], [60997637, 60997736], [60998853, 60999140]] [[60997397, 60997535], [60997637, 60997736], [60998853, 60999003]]
NM_001079808 [[60989820, 60989928], [60990414, 60990577], [60992810, 60992928], [60993797, 60993916], [60994591, 60994791], [60996142, 60996259], [60997390, 60997535], [60997637, 60997736], [60998853, 60999167]] [[60989872, 60989928], [60990414, 60990577], [60992810, 60992928], [60993797, 60993916], [60994591, 60994791], [60996142, 60996259], [60997390, 60997535], [60997637, 60997736], [60998853, 60999003]]

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr11 GH11I061217 61217334 61218765 0.2 [{'connected_gene': 'PGA4', 'score': 0.77}, {'connected_gene': 'PGA3', 'score': 0.39}]
chr11 GH11I061212 61212937 61213852 0.2 [{'connected_gene': 'PGA4', 'score': 0.44}, {'connected_gene': 'PGA3', 'score': 0.39}]
chr11 GH11I061214 61214393 61216629 0.2 [{'connected_gene': 'PGA4', 'score': 0.44}, {'connected_gene': 'PGA3', 'score': 0.39}]
chr11 GH11I061221 61221481 61221891 0.2 [{'connected_gene': 'PGA4', 'score': 550.77}, {'connected_gene': 'PGA3', 'score': 0.37}]
chr11 GH11I061222 61222401 61222600 0.2 [{'connected_gene': 'PGA4', 'score': 550.77}, {'connected_gene': 'ENSG00000256220', 'score': 0.77}]
chr11 GH11I061209 61209445 61209862 0.2 [{'connected_gene': 'PGA3', 'score': 0.44}, {'connected_gene': 'PGA4', 'score': 0.39}]
chr11 GH11I061208 61208660 61209166 0.2 [{'connected_gene': 'PGA3', 'score': 0.44}, {'connected_gene': 'PGA4', 'score': 0.39}]
chr11 GH11I061203 61203401 61203600 0.38 [{'connected_gene': 'PGA3', 'score': 550.77}, {'connected_gene': 'PGA4', 'score': 0.37}]
chr11 GH11I061210 61210016 61210507 0.2 [{'connected_gene': 'PGA3', 'score': 0.44}, {'connected_gene': 'PGA4', 'score': 0.39}]
chr11 GH11I061231 61231766 61232681 0.2 [{'connected_gene': 'PGA5', 'score': 0.44}, {'connected_gene': 'ENSG00000256220', 'score': 0.44}, {'connected_gene': 'PGA4', 'score': 0.39}]
chr11 GH11I061228 61228274 61228691 0.2 [{'connected_gene': 'ENSG00000256220', 'score': 550.77}, {'connected_gene': 'PGA4', 'score': 0.44}, {'connected_gene': 'PGA5', 'score': 0.39}]
chr11 GH11I061227 61227489 61227995 0.2 [{'connected_gene': 'ENSG00000256220', 'score': 550.77}, {'connected_gene': 'PGA4', 'score': 0.44}, {'connected_gene': 'PGA5', 'score': 0.39}]
chr11 GH11I061229 61228845 61229336 0.2 [{'connected_gene': 'ENSG00000256220', 'score': 550.77}, {'connected_gene': 'PGA4', 'score': 0.44}, {'connected_gene': 'PGA5', 'score': 0.39}]