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
ENST00000287641 [[187386693, 187387065], [187387941, 187388187]] [[187386852, 187387065], [187387941, 187388079]]
NM_001048 [[187386693, 187387065], [187387941, 187388201]] [[187386852, 187387065], [187387941, 187388079]]
Promoter
Chrom Start End Description
chr3 187388173 187388189 CAGE_peak_1_at_SST_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr3 GH03I187318 187318682 187320462 0.93 [{'connected_gene': 'SST', 'score': 11.92}, {'connected_gene': 'MASP1', 'score': 11.81}, {'connected_gene': 'RTP4', 'score': 11.3}]
chr3 GH03I187322 187322832 187324282 0.2 [{'connected_gene': 'SST', 'score': 11.0}, {'connected_gene': 'MASP1', 'score': 10.66}, {'connected_gene': 'RTP4', 'score': 10.38}]
chr3 GH03I187714 187714001 187714200 0.38 [{'connected_gene': 'SST', 'score': 10.77}, {'connected_gene': 'RTP2', 'score': 0.77}, {'connected_gene': 'LOC100131635', 'score': 0.39}, {'connected_gene': 'GC03P187680', 'score': 0.29}]
chr3 GH03I187715 187714400 187714801 1.1 [{'connected_gene': 'SST', 'score': 10.77}, {'connected_gene': 'RTP2', 'score': 0.77}, {'connected_gene': 'LOC100131635', 'score': 0.39}, {'connected_gene': 'GC03P187680', 'score': 0.29}]
chr3 GH03I187713 187713600 187713801 0.52 [{'connected_gene': 'SST', 'score': 10.77}, {'connected_gene': 'RTP2', 'score': 0.77}, {'connected_gene': 'LOC100131635', 'score': 0.39}, {'connected_gene': 'GC03P187680', 'score': 0.29}]
chr3 GH03I187670 187670382 187670441 0.79 [{'connected_gene': 'SST', 'score': 550.77}, {'connected_gene': 'GC03M187531', 'score': 0.12}]
chr3 GH03I187640 187640033 187640182 0.43 [{'connected_gene': 'SST', 'score': 11.31}, {'connected_gene': 'GC03M187531', 'score': 0.15}]
chr3 GH03I187616 187616413 187616522 0.6 [{'connected_gene': 'SST', 'score': 10.81}, {'connected_gene': 'GC03M187531', 'score': 0.18}]
chr3 GH03I187604 187604276 187604406 0.22 [{'connected_gene': 'SST', 'score': 10.62}, {'connected_gene': 'GC03M187531', 'score': 0.2}]
chr3 GH03I187641 187640333 187640482 0.57 [{'connected_gene': 'SST', 'score': 11.31}, {'connected_gene': 'GC03M187531', 'score': 0.15}]
chr3 GH03I187261 187261950 187266262 1.11 [{'connected_gene': 'MASP1', 'score': 25.41}, {'connected_gene': 'SST', 'score': 10.08}, {'connected_gene': 'LOC101929130', 'score': 0.31}, {'connected_gene': 'LOC105374260', 'score': 0.28}]
chr3 GH03I187262 187261573 187261822 0.62 [{'connected_gene': 'MASP1', 'score': 24.72}, {'connected_gene': 'SST', 'score': 10.08}, {'connected_gene': 'LOC101929130', 'score': 0.31}, {'connected_gene': 'LOC105374260', 'score': 0.28}]
chr3 GH03I187290 187290573 187294232 1.92 [{'connected_gene': 'MASP1', 'score': 559.85}, {'connected_gene': 'LOC101929130', 'score': 550.77}, {'connected_gene': 'SST', 'score': 9.83}, {'connected_gene': 'RTP4', 'score': 0.18}]
chr3 GH03I187717 187717690 187718433 0.2 [{'connected_gene': 'RTP2', 'score': 550.77}, {'connected_gene': 'LOC100131635', 'score': 12.99}, {'connected_gene': 'SST', 'score': 10.78}, {'connected_gene': 'BCL6-AS1', 'score': 0.31}, {'connected_gene': 'GC03P187680', 'score': 0.28}]
chr3 GH03I188170 188170500 188172334 1.32 [{'connected_gene': 'BCL6-AS1', 'score': 9.88}, {'connected_gene': 'BCL6', 'score': 9.88}, {'connected_gene': 'ENSG00000234238', 'score': 7.62}, {'connected_gene': 'SST', 'score': 5.35}, {'connected_gene': 'LOC100131635', 'score': 5.27}, {'connected_gene': 'FLJ42393', 'score': 0.44}, {'connected_gene': 'LPP', 'score': 0.37}, {'connected_gene': 'LPP-AS2', 'score': 0.37}]
chr3 GH03I187679 187679713 187679882 0.71 [{'connected_gene': 'GC03P187680', 'score': 550.77}, {'connected_gene': 'SST', 'score': 0.44}]
chr3 GH03I187567 187567001 187568601 0.63 [{'connected_gene': 'GC03M187531', 'score': 0.29}, {'connected_gene': 'SST', 'score': 0.15}]