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
ENST00000417037 [[38179968, 38180519], [38181354, 38181489], [38181878, 38182083], [38182247, 38182339], [38182622, 38184510]] [[38180152, 38180519], [38181354, 38181489], [38181878, 38182083], [38182247, 38182339], [38182622, 38182777]]
ENST00000396334 [[38179968, 38180519], [38181354, 38181489], [38181878, 38182059], [38182247, 38182339], [38182622, 38184513]] [[38180152, 38180519], [38181354, 38181489], [38181878, 38182059], [38182247, 38182339], [38182622, 38182777]]
ENST00000424893 [[38180042, 38180519], [38181878, 38182059], [38182247, 38182339], [38182622, 38183151]] [[38180152, 38180519], [38181878, 38182059], [38182247, 38182339], [38182622, 38182777]]
ENST00000416282 [[38180141, 38180519], [38181878, 38182339], [38182622, 38184513]] None
ENST00000460295 [[38180147, 38180519], [38181354, 38182070]] None
ENST00000495303 [[38180147, 38180519], [38182247, 38182339], [38182622, 38183134]] [[38180152, 38180519], [38182247, 38182339], [38182622, 38182643]]
ENST00000443433 [[38180151, 38180519], [38181354, 38181489], [38182247, 38182339], [38182622, 38182941]] [[38180152, 38180519], [38181354, 38181489], [38182247, 38182339], [38182622, 38182643]]
ENST00000421516 [[38180155, 38180519], [38181354, 38181489], [38181878, 38182083], [38182247, 38182339], [38182622, 38184513]] [[38180155, 38180519], [38181354, 38181489], [38181878, 38182083], [38182247, 38182339], [38182622, 38182777]]
ENST00000481122 [[38180642, 38180763], [38181354, 38181489], [38181878, 38182059], [38182247, 38182339], [38182622, 38182805]] None
ENST00000484513 [[38180913, 38182339], [38182622, 38184510]] None
ENST00000463956 [[38181230, 38181271], [38181354, 38181489], [38181878, 38182059], [38182247, 38182339], [38182622, 38182756]] None
NM_001172566 [[38179968, 38180519], [38182247, 38182339], [38182622, 38184513]] [[38180152, 38180519], [38182247, 38182339], [38182622, 38182643]]
NM_001172568 [[38179968, 38180519], [38181878, 38182059], [38182247, 38182339], [38182622, 38184513]] [[38180152, 38180519], [38181878, 38182059], [38182247, 38182339], [38182622, 38182777]]
NM_001172569 [[38179968, 38180519], [38181354, 38181489], [38182247, 38182339], [38182622, 38184513]] [[38180152, 38180519], [38181354, 38181489], [38182247, 38182339], [38182622, 38182643]]
NM_002468 [[38179968, 38180519], [38181354, 38181489], [38181878, 38182059], [38182247, 38182339], [38182622, 38184513]] [[38180152, 38180519], [38181354, 38181489], [38181878, 38182059], [38182247, 38182339], [38182622, 38182777]]
NM_001172567 [[38179968, 38180519], [38181354, 38181489], [38181878, 38182083], [38182247, 38182339], [38182622, 38184513]] [[38180152, 38180519], [38181354, 38181489], [38181878, 38182083], [38182247, 38182339], [38182622, 38182777]]
Promoter
Chrom Start End Description
chr3 38180117 38180192 CAGE_peak_1_at_MYD88_5end
chr3 38181238 38181245 CAGE_peak_10_at_MYD88_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr3 GH03I038163 38163201 38171195 2.78 [{'connected_gene': 'OXSR1', 'score': 590.52}, {'connected_gene': 'LOC101928234', 'score': 550.77}, {'connected_gene': 'GORASP1', 'score': 21.99}, {'connected_gene': 'NDUFAF4P3', 'score': 21.97}, {'connected_gene': 'ACAA1', 'score': 20.38}, {'connected_gene': 'MYD88', 'score': 19.35}, {'connected_gene': 'ACVR2B', 'score': 11.9}, {'connected_gene': 'C3orf35', 'score': 11.75}, {'connected_gene': 'SLC22A13', 'score': 11.07}, {'connected_gene': 'ACVR2B-AS1', 'score': 10.25}, {'connected_gene': 'VILL', 'score': 7.7}, {'connected_gene': 'PLCD1', 'score': 2.97}, {'connected_gene': 'DLEC1', 'score': 1.38}, {'connected_gene': 'SLC22A14', 'score': 1.29}, {'connected_gene': 'GC03P038253', 'score': 0.17}, {'connected_gene': 'PIR62277', 'score': 0.17}]
chr3 GH03I038147 38147435 38150399 1.44 [{'connected_gene': 'SLC22A13', 'score': 10.42}, {'connected_gene': 'VILL', 'score': 8.54}, {'connected_gene': 'MYD88', 'score': 4.66}, {'connected_gene': 'PLCD1', 'score': 4.34}, {'connected_gene': 'OXSR1', 'score': 3.84}]
chr3 GH03I038267 38267353 38268040 0.4 [{'connected_gene': 'SLC22A13', 'score': 550.77}, {'connected_gene': 'RNU6-235P', 'score': 12.88}, {'connected_gene': 'XYLB', 'score': 10.98}, {'connected_gene': 'MYD88', 'score': 10.84}, {'connected_gene': 'ACAA1', 'score': 10.83}, {'connected_gene': 'VILL', 'score': 9.62}, {'connected_gene': 'LOC101409262', 'score': 0.77}, {'connected_gene': 'GC03M038270', 'score': 0.77}]
chr3 GH03I038157 38157316 38158199 0.63 [{'connected_gene': 'GORASP1', 'score': 23.2}, {'connected_gene': 'NDUFAF4P3', 'score': 19.12}, {'connected_gene': 'ACVR2B', 'score': 13.8}, {'connected_gene': 'ACAA1', 'score': 12.23}, {'connected_gene': 'OXSR1', 'score': 0.44}, {'connected_gene': 'LOC101928234', 'score': 0.44}, {'connected_gene': 'MYD88', 'score': 0.37}]
chr3 GH03I038150 38150601 38155625 1.55 [{'connected_gene': 'VILL', 'score': 14.02}, {'connected_gene': 'MYD88', 'score': 12.88}, {'connected_gene': 'OXSR1', 'score': 12.78}, {'connected_gene': 'ACAA1', 'score': 11.61}]
chr3 GH03I038141 38141990 38142139 0.46 [{'connected_gene': 'MYD88', 'score': 0.77}, {'connected_gene': 'OXSR1', 'score': 0.34}]
chr3 GH03I038102 38102002 38102902 0.63 [{'connected_gene': 'MYD88', 'score': 13.96}, {'connected_gene': 'VILL', 'score': 13.76}, {'connected_gene': 'ACAA1', 'score': 11.76}, {'connected_gene': 'SLC22A13', 'score': 11.07}, {'connected_gene': 'PLCD1', 'score': 6.24}, {'connected_gene': 'OXSR1', 'score': 2.95}, {'connected_gene': 'SLC22A14', 'score': 2.92}, {'connected_gene': 'PIR60395', 'score': 0.39}, {'connected_gene': 'GC03M038048', 'score': 0.25}, {'connected_gene': 'DLEC1', 'score': 0.21}]
chr3 GH03I038190 38190630 38190779 0.2 [{'connected_gene': 'ACAA1', 'score': 11.26}, {'connected_gene': 'MYD88', 'score': 11.26}, {'connected_gene': 'OXSR1', 'score': 0.31}, {'connected_gene': 'LOC101928234', 'score': 0.31}, {'connected_gene': 'GC03P038253', 'score': 0.21}, {'connected_gene': 'PIR62277', 'score': 0.21}]
chr3 GH03I038227 38227461 38228600 0.66 [{'connected_gene': 'ACAA1', 'score': 16.16}, {'connected_gene': 'MYD88', 'score': 11.24}, {'connected_gene': 'GC03P038253', 'score': 0.31}, {'connected_gene': 'PIR62277', 'score': 0.31}, {'connected_gene': 'OXSR1', 'score': 0.21}, {'connected_gene': 'LOC101928234', 'score': 0.21}]
chr3 GH03I038129 38129119 38140031 2.28 [{'connected_gene': 'ACAA1', 'score': 560.89}, {'connected_gene': 'MYD88', 'score': 550.77}, {'connected_gene': 'OXSR1', 'score': 5.51}, {'connected_gene': 'PIR37756', 'score': 0.77}, {'connected_gene': 'ENSG00000201965', 'score': 0.44}, {'connected_gene': 'GC03M038125', 'score': 0.44}]
chr3 GH03I038268 38268201 38269000 0.31 [{'connected_gene': 'RNU6-235P', 'score': 12.88}, {'connected_gene': 'XYLB', 'score': 10.98}, {'connected_gene': 'ACAA1', 'score': 10.83}, {'connected_gene': 'MYD88', 'score': 10.83}, {'connected_gene': 'VILL', 'score': 9.62}, {'connected_gene': 'DLEC1', 'score': 4.26}, {'connected_gene': 'SLC22A13', 'score': 0.77}, {'connected_gene': 'LOC101409262', 'score': 0.77}, {'connected_gene': 'GC03M038270', 'score': 0.77}]

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