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
ENST00000306698 [[20202084, 20202718], [20212215, 20212307], [20212534, 20212724], [20218092, 20218151], [20219762, 20219839], [20225099, 20225296], [20225377, 20225526], [20227550, 20227683]] [[20202596, 20202718], [20212215, 20212307], [20212534, 20212724], [20218092, 20218151], [20219762, 20219839], [20225099, 20225296], [20225377, 20225519]]
ENST00000419233 [[20202084, 20202718], [20212215, 20212307], [20212534, 20212724], [20216496, 20216547], [20218092, 20218151], [20219762, 20219839], [20225099, 20225296], [20225377, 20225526], [20227550, 20227683]] [[20202596, 20202718], [20212215, 20212307], [20212534, 20212724], [20216496, 20216547], [20218092, 20218151], [20219762, 20219839], [20225099, 20225296], [20225377, 20225519]]
ENST00000263753 [[20202084, 20202718], [20212215, 20212307], [20212534, 20212724], [20215740, 20216547], [20218092, 20218151], [20219762, 20219839], [20225099, 20225296], [20225377, 20225526], [20227550, 20227683]] [[20202596, 20202718], [20212215, 20212307], [20212534, 20212724], [20215740, 20216547], [20218092, 20218151], [20219762, 20219839], [20225099, 20225296], [20225377, 20225519]]
ENST00000383774 [[20202086, 20202718], [20216496, 20216547], [20218092, 20218151], [20219762, 20219839], [20225099, 20225296], [20225377, 20225526], [20227550, 20227683]] [[20202596, 20202718], [20216496, 20216547], [20218092, 20218151], [20219762, 20219839], [20225099, 20225296], [20225377, 20225519]]
ENST00000452020 [[20202500, 20202718], [20212215, 20212307], [20212534, 20212724], [20218092, 20218151], [20219762, 20219839], [20225099, 20225296], [20225377, 20225526], [20227439, 20227619]] [[20202596, 20202718], [20212215, 20212307], [20212534, 20212724], [20218092, 20218151], [20219762, 20219839], [20225099, 20225296], [20225377, 20225519]]
ENST00000443724 [[20202500, 20202718], [20216496, 20216547], [20218092, 20218151], [20219762, 20219839], [20225099, 20225296], [20225377, 20225526], [20227439, 20227619]] [[20202596, 20202718], [20216496, 20216547], [20218092, 20218151], [20219762, 20219839], [20225099, 20225296], [20225377, 20225519]]
ENST00000421451 [[20202500, 20202718], [20212215, 20212307], [20212534, 20212724], [20215740, 20216547], [20218092, 20218151], [20219762, 20219839], [20225099, 20225296], [20225377, 20225526], [20227439, 20227619]] [[20202596, 20202718], [20212215, 20212307], [20212534, 20212724], [20215740, 20216547], [20218092, 20218151], [20219762, 20219839], [20225099, 20225296], [20225377, 20225519]]
ENST00000425061 [[20202500, 20202718], [20212215, 20212307], [20212534, 20212724], [20216496, 20216547], [20218092, 20218151], [20219762, 20219839], [20225099, 20225296], [20225377, 20225526], [20227439, 20227619]] [[20202596, 20202718], [20212215, 20212307], [20212534, 20212724], [20216496, 20216547], [20218092, 20218151], [20219762, 20219839], [20225099, 20225296], [20225377, 20225519]]
ENST00000442720 [[20210977, 20212307], [20212534, 20212724], [20218092, 20218151], [20219762, 20219839], [20225099, 20225296], [20225377, 20225526], [20227439, 20227698]] [[20212195, 20212307], [20212534, 20212724], [20218092, 20218151], [20219762, 20219839], [20225099, 20225296], [20225377, 20225519]]
ENST00000412997 [[20211544, 20212307], [20212534, 20212724], [20215740, 20216547], [20218092, 20218151], [20219762, 20219839], [20225099, 20225296], [20225377, 20225526], [20227439, 20227784]] [[20212195, 20212307], [20212534, 20212724], [20215740, 20216547], [20218092, 20218151], [20219762, 20219839], [20225099, 20225296], [20225377, 20225519]]
ENST00000460637 [[20211552, 20212307], [20212534, 20212759]] None
ENST00000437051 [[20211976, 20212307], [20212534, 20212724], [20216496, 20216547], [20218092, 20218151], [20219762, 20219839], [20225099, 20225296], [20225377, 20225526], [20227550, 20227683]] [[20212195, 20212307], [20212534, 20212724], [20216496, 20216547], [20218092, 20218151], [20219762, 20219839], [20225099, 20225296], [20225377, 20225519]]
ENST00000412868 [[20211984, 20212307], [20212534, 20212724], [20215740, 20216547], [20218092, 20218151], [20219762, 20219839], [20225099, 20225296], [20225377, 20225526], [20227550, 20227683]] [[20212195, 20212307], [20212534, 20212724], [20215740, 20216547], [20218092, 20218151], [20219762, 20219839], [20225099, 20225296], [20225377, 20225519]]
ENST00000429446 [[20211984, 20212307], [20212534, 20212724], [20218092, 20218151], [20219762, 20219839], [20225099, 20225296], [20225377, 20225526], [20227550, 20227683]] [[20212195, 20212307], [20212534, 20212724], [20218092, 20218151], [20219762, 20219839], [20225099, 20225296], [20225377, 20225519]]
ENST00000417364 [[20212135, 20212307], [20212534, 20212724], [20216496, 20216547], [20218092, 20218151], [20219762, 20219839], [20225099, 20225296], [20225377, 20225526], [20227439, 20227619]] [[20212195, 20212307], [20212534, 20212724], [20216496, 20216547], [20218092, 20218151], [20219762, 20219839], [20225099, 20225296], [20225377, 20225519]]
ENST00000456624 [[20216213, 20216547], [20218092, 20218151], [20219762, 20219839], [20225250, 20225296], [20225377, 20225524]] [[20219772, 20219839], [20225250, 20225296], [20225377, 20225519]]
NM_001199252 [[20202084, 20202718], [20212215, 20212307], [20212534, 20212724], [20215740, 20216547], [20218092, 20218151], [20219762, 20219839], [20225099, 20225296], [20225377, 20225526], [20227439, 20227725]] [[20202596, 20202718], [20212215, 20212307], [20212534, 20212724], [20215740, 20216547], [20218092, 20218151], [20219762, 20219839], [20225099, 20225296], [20225377, 20225519]]
NM_001199254 [[20202084, 20202718], [20212215, 20212307], [20212534, 20212724], [20216496, 20216547], [20218092, 20218151], [20219762, 20219839], [20225099, 20225296], [20225377, 20225526], [20227439, 20227725]] [[20202596, 20202718], [20212215, 20212307], [20212534, 20212724], [20216496, 20216547], [20218092, 20218151], [20219762, 20219839], [20225099, 20225296], [20225377, 20225519]]
NM_001199257 [[20202084, 20202718], [20216496, 20216547], [20218092, 20218151], [20219762, 20219839], [20225099, 20225296], [20225377, 20225526], [20227439, 20227725]] [[20202596, 20202718], [20216496, 20216547], [20218092, 20218151], [20219762, 20219839], [20225099, 20225296], [20225377, 20225519]]
NM_001199256 [[20202084, 20202718], [20212215, 20212307], [20212534, 20212724], [20218092, 20218151], [20219762, 20219839], [20225099, 20225296], [20225377, 20225526], [20227439, 20227725]] [[20202596, 20202718], [20212215, 20212307], [20212534, 20212724], [20218092, 20218151], [20219762, 20219839], [20225099, 20225296], [20225377, 20225519]]
NM_001012410 [[20202084, 20202718], [20212215, 20212307], [20212534, 20212724], [20215740, 20216547], [20218092, 20218151], [20219762, 20219839], [20225099, 20225296], [20225377, 20225526], [20227550, 20227725]] [[20202596, 20202718], [20212215, 20212307], [20212534, 20212724], [20215740, 20216547], [20218092, 20218151], [20219762, 20219839], [20225099, 20225296], [20225377, 20225519]]
NM_001012412 [[20202084, 20202718], [20212215, 20212307], [20212534, 20212724], [20216496, 20216547], [20218092, 20218151], [20219762, 20219839], [20225099, 20225296], [20225377, 20225526], [20227550, 20227725]] [[20202596, 20202718], [20212215, 20212307], [20212534, 20212724], [20216496, 20216547], [20218092, 20218151], [20219762, 20219839], [20225099, 20225296], [20225377, 20225519]]
NM_138484 [[20202084, 20202718], [20212215, 20212307], [20212534, 20212724], [20218092, 20218151], [20219762, 20219839], [20225099, 20225296], [20225377, 20225526], [20227550, 20227725]] [[20202596, 20202718], [20212215, 20212307], [20212534, 20212724], [20218092, 20218151], [20219762, 20219839], [20225099, 20225296], [20225377, 20225519]]
NM_001199251 [[20210971, 20212307], [20212534, 20212724], [20215740, 20216547], [20218092, 20218151], [20219762, 20219839], [20225099, 20225296], [20225377, 20225526], [20227439, 20227725]] [[20212195, 20212307], [20212534, 20212724], [20215740, 20216547], [20218092, 20218151], [20219762, 20219839], [20225099, 20225296], [20225377, 20225519]]
NM_001199253 [[20210971, 20212307], [20212534, 20212724], [20216496, 20216547], [20218092, 20218151], [20219762, 20219839], [20225099, 20225296], [20225377, 20225526], [20227439, 20227725]] [[20212195, 20212307], [20212534, 20212724], [20216496, 20216547], [20218092, 20218151], [20219762, 20219839], [20225099, 20225296], [20225377, 20225519]]
NM_001199255 [[20210971, 20212307], [20212534, 20212724], [20218092, 20218151], [20219762, 20219839], [20225099, 20225296], [20225377, 20225526], [20227439, 20227725]] [[20212195, 20212307], [20212534, 20212724], [20218092, 20218151], [20219762, 20219839], [20225099, 20225296], [20225377, 20225519]]
NM_001012409 [[20210971, 20212307], [20212534, 20212724], [20215740, 20216547], [20218092, 20218151], [20219762, 20219839], [20225099, 20225296], [20225377, 20225526], [20227550, 20227725]] [[20212195, 20212307], [20212534, 20212724], [20215740, 20216547], [20218092, 20218151], [20219762, 20219839], [20225099, 20225296], [20225377, 20225519]]
NM_001012411 [[20210971, 20212307], [20212534, 20212724], [20216496, 20216547], [20218092, 20218151], [20219762, 20219839], [20225099, 20225296], [20225377, 20225526], [20227550, 20227725]] [[20212195, 20212307], [20212534, 20212724], [20216496, 20216547], [20218092, 20218151], [20219762, 20219839], [20225099, 20225296], [20225377, 20225519]]
NM_001012413 [[20210971, 20212307], [20212534, 20212724], [20218092, 20218151], [20219762, 20219839], [20225099, 20225296], [20225377, 20225526], [20227550, 20227725]] [[20212195, 20212307], [20212534, 20212724], [20218092, 20218151], [20219762, 20219839], [20225099, 20225296], [20225377, 20225519]]
NR_131179 [[20210971, 20212307], [20212534, 20212724], [20216496, 20216547], [20218092, 20218151], [20219762, 20219839], [20225377, 20225526], [20227550, 20227725]] None
NR_131180 [[20210971, 20212307], [20212534, 20212724], [20218092, 20218151], [20219762, 20219839], [20225377, 20225526], [20227550, 20227725]] None
Promoter
Chrom Start End Description
chr3 20227671 20227711 CAGE_peak_1_at_SGOL1_5end
chr3 20227720 20227744 CAGE_peak_2_at_SGOL1_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr3 GH03I020140 20140902 20142838 0.88 [{'connected_gene': 'KAT2B', 'score': 15.22}, {'connected_gene': 'SGO1', 'score': 11.17}, {'connected_gene': 'EFHB', 'score': 4.18}, {'connected_gene': 'MIR3135A', 'score': 0.77}, {'connected_gene': 'SGO1-AS1', 'score': 0.29}]
chr3 GH03I020161 20160140 20160340 0.28 [{'connected_gene': 'KAT2B', 'score': 12.44}, {'connected_gene': 'SGO1-AS1', 'score': 0.39}, {'connected_gene': 'MIR3135A', 'score': 0.34}, {'connected_gene': 'SGO1', 'score': 0.31}]
chr3 GH03I020160 20160401 20160800 0.31 [{'connected_gene': 'KAT2B', 'score': 10.79}, {'connected_gene': 'SGO1-AS1', 'score': 0.39}, {'connected_gene': 'MIR3135A', 'score': 0.34}, {'connected_gene': 'SGO1', 'score': 0.31}]
chr3 GH03I020184 20184498 20189068 2.09 [{'connected_gene': 'SGO1', 'score': 550.77}, {'connected_gene': 'KAT2B', 'score': 22.94}, {'connected_gene': 'SGO1-AS1', 'score': 0.39}]
chr3 GH03I020149 20149492 20149693 0.22 [{'connected_gene': 'SGO1', 'score': 13.32}, {'connected_gene': 'KAT2B', 'score': 10.16}, {'connected_gene': 'MIR3135A', 'score': 0.39}, {'connected_gene': 'SGO1-AS1', 'score': 0.34}]
chr3 GH03I020164 20164376 20164587 0.22 [{'connected_gene': 'SGO1', 'score': 2.51}, {'connected_gene': 'SGO1-AS1', 'score': 0.44}, {'connected_gene': 'MIR3135A', 'score': 0.31}]

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