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
ENST00000257901 [[52753789, 52754830], [52755250, 52755282], [52756034, 52756255], [52756637, 52756763], [52757029, 52757194], [52757851, 52757947], [52758089, 52758150], [52758745, 52758954], [52760769, 52761265]] [[52754636, 52754830], [52755250, 52755282], [52756034, 52756255], [52756637, 52756763], [52757029, 52757194], [52757851, 52757947], [52758089, 52758150], [52758745, 52758954], [52760769, 52761189]]
ENST00000544265 [[52754339, 52754830], [52755250, 52755282], [52756034, 52756255], [52756637, 52756763], [52757029, 52757194], [52757851, 52757947], [52758150, 52758406]] [[52754636, 52754830], [52755250, 52755282], [52756034, 52756255], [52756637, 52756763], [52757029, 52757194], [52757851, 52757947], [52758150, 52758204]]
ENST00000552537 [[52756634, 52756763], [52757029, 52757194], [52757851, 52757947], [52758089, 52758413]] None
NM_001300810 [[52753789, 52754830], [52755250, 52755282], [52756034, 52756255], [52756637, 52756763], [52757029, 52757194], [52757851, 52757947], [52758150, 52758406]] [[52754636, 52754830], [52755250, 52755282], [52756034, 52756255], [52756637, 52756763], [52757029, 52757194], [52757851, 52757947], [52758150, 52758204]]
NM_002283 [[52753789, 52754830], [52755250, 52755282], [52756034, 52756255], [52756637, 52756763], [52757029, 52757194], [52757851, 52757947], [52758089, 52758150], [52758745, 52758954], [52760769, 52761309]] [[52754636, 52754830], [52755250, 52755282], [52756034, 52756255], [52756637, 52756763], [52757029, 52757194], [52757851, 52757947], [52758089, 52758150], [52758745, 52758954], [52760769, 52761189]]
Promoter
Chrom Start End Description
chr12 52761262 52761267 CAGE_peak_1_at_KRT85_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr12 GH12I052348 52348617 52348631 0.2 [{'connected_gene': 'KRT89P', 'score': 0.44}, {'connected_gene': 'KRT85', 'score': 0.37}, {'connected_gene': 'GC12M052334', 'score': 0.14}]
chr12 GH12I052345 52345317 52348569 0.56 [{'connected_gene': 'KRT86', 'score': 9.57}, {'connected_gene': 'ENSG00000257829', 'score': 8.59}, {'connected_gene': 'ESPL1', 'score': 4.32}, {'connected_gene': 'KRT89P', 'score': 0.44}, {'connected_gene': 'KRT85', 'score': 0.34}, {'connected_gene': 'GC12M052334', 'score': 0.14}]
chr12 GH12I052371 52371068 52372103 0.58 [{'connected_gene': 'KRT86', 'score': 8.96}, {'connected_gene': 'KRT85', 'score': 0.77}, {'connected_gene': 'ENSG00000258253', 'score': 0.44}, {'connected_gene': 'GC12M052334', 'score': 0.17}]
chr12 GH12I052367 52367471 52367530 0.61 [{'connected_gene': 'KRT85', 'score': 550.77}, {'connected_gene': 'KRT89P', 'score': 0.31}, {'connected_gene': 'GC12M052334', 'score': 0.16}]
chr12 GH12I052372 52372637 52372858 0.76 [{'connected_gene': 'KRT85', 'score': 0.44}, {'connected_gene': 'ENSG00000258253', 'score': 0.44}, {'connected_gene': 'GC12M052334', 'score': 0.17}]
chr12 GH12I052358 52358637 52358766 0.52 [{'connected_gene': 'KRT84', 'score': 12.2}, {'connected_gene': 'KRT86', 'score': 10.41}, {'connected_gene': 'KRT83', 'score': 10.28}, {'connected_gene': 'KRT6C', 'score': 10.12}, {'connected_gene': 'KRT78', 'score': 9.35}, {'connected_gene': 'KRT4', 'score': 9.16}, {'connected_gene': 'KRT85', 'score': 0.44}, {'connected_gene': 'KRT89P', 'score': 0.37}, {'connected_gene': 'GC12M052334', 'score': 0.15}]
chr12 GH12I052351 52351777 52351926 0.2 [{'connected_gene': 'KRT83', 'score': 11.16}, {'connected_gene': 'KRT84', 'score': 11.04}, {'connected_gene': 'KRT86', 'score': 10.4}, {'connected_gene': 'KRT81', 'score': 10.38}, {'connected_gene': 'KRT7', 'score': 9.99}, {'connected_gene': 'KRT2', 'score': 9.36}, {'connected_gene': 'LOC283335', 'score': 4.67}, {'connected_gene': 'KRT89P', 'score': 0.39}, {'connected_gene': 'KRT85', 'score': 0.37}, {'connected_gene': 'GC12M052334', 'score': 0.14}]