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
ENST00000476781 [[179306072, 179306783], [179310431, 179310527], [179311552, 179311683], [179316462, 179316559], [179319517, 179319578], [179320439, 179320585], [179322314, 179322442]] [[179306659, 179306783], [179310431, 179310527], [179311552, 179311683], [179316462, 179316559], [179319517, 179319578], [179320439, 179320585], [179322314, 179322412]]
ENST00000259038 [[179306242, 179306783], [179310431, 179310527], [179311552, 179311683], [179316462, 179316559], [179319517, 179319578], [179320439, 179320525], [179322314, 179322428]] [[179306659, 179306783], [179310431, 179310527], [179311552, 179311683], [179316462, 179316559], [179319517, 179319578], [179320439, 179320525], [179322314, 179322412]]
ENST00000392659 [[179306618, 179306783], [179310431, 179310527], [179311552, 179311683], [179316462, 179316559], [179319517, 179319578], [179322314, 179322437]] [[179306659, 179306783], [179310431, 179310527], [179311552, 179311683], [179316462, 179316534]]
NM_020409 [[179306252, 179306783], [179310431, 179310527], [179311552, 179311683], [179316462, 179316559], [179319517, 179319578], [179320439, 179320585], [179322314, 179322434]] [[179306659, 179306783], [179310431, 179310527], [179311552, 179311683], [179316462, 179316559], [179319517, 179319578], [179320439, 179320585], [179322314, 179322412]]
NM_177988 [[179306252, 179306783], [179310431, 179310527], [179311552, 179311683], [179316462, 179316559], [179319517, 179319578], [179322314, 179322434]] [[179306659, 179306783], [179310431, 179310527], [179311552, 179311683], [179316462, 179316534]]
Promoter
Chrom Start End Description
chr3 179322416 179322435 CAGE_peak_1_at_MRPL47_5end
chr3 179322436 179322447 CAGE_peak_2_at_MRPL47_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr3 GH03I179608 179608479 179609723 0.77 [{'connected_gene': 'USP13', 'score': 10.86}, {'connected_gene': 'MRPL47', 'score': 7.14}, {'connected_gene': 'NDUFB5', 'score': 6.51}, {'connected_gene': 'ENSG00000239096', 'score': 0.44}]
chr3 GH03I179591 179591265 179591643 0.27 [{'connected_gene': 'USP13', 'score': 9.93}, {'connected_gene': 'ENSG00000272660', 'score': 0.44}, {'connected_gene': 'MRPL47', 'score': 0.39}]
chr3 GH03I179603 179603388 179605805 2.03 [{'connected_gene': 'NDUFB5', 'score': 559.58}, {'connected_gene': 'MRPL47', 'score': 557.14}, {'connected_gene': 'TTC14', 'score': 12.09}, {'connected_gene': 'USP13', 'score': 10.94}, {'connected_gene': 'ACTL6A', 'score': 10.15}, {'connected_gene': 'MFN1', 'score': 10.07}, {'connected_gene': 'ENSG00000272660', 'score': 0.34}]
chr3 GH03I179626 179626740 179627826 0.38 [{'connected_gene': 'GC03P179625', 'score': 550.77}, {'connected_gene': 'USP13', 'score': 11.44}, {'connected_gene': 'NDUFB5', 'score': 8.76}, {'connected_gene': 'MRPL47', 'score': 5.77}, {'connected_gene': 'GC03P179640', 'score': 0.39}]
chr3 GH03I179544 179544382 179546067 0.38 [{'connected_gene': 'ENSG00000239255', 'score': 11.67}, {'connected_gene': 'GNB4', 'score': 11.67}, {'connected_gene': 'NDUFB5', 'score': 5.54}, {'connected_gene': 'MRPL47', 'score': 5.41}, {'connected_gene': 'ACTL6A', 'score': 0.37}, {'connected_gene': 'PIR62273', 'score': 0.22}]