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
ENST00000398039 [[53191604, 53191817], [53196123, 53196399], [53201572, 53201713], [53206556, 53206629], [53211439, 53211581], [53216540, 53217919]] [[53216627, 53217590]]
ENST00000342657 [[53191604, 53191817], [53196123, 53196399], [53201572, 53201713], [53203353, 53203494], [53206556, 53206629], [53211439, 53211581], [53216540, 53217919]] [[53216627, 53217590]]
ENST00000357495 [[53216567, 53217915]] [[53216627, 53217590]]
NM_001011725 [[53191604, 53191817], [53196123, 53196399], [53201572, 53201713], [53206556, 53206629], [53211439, 53211581], [53216540, 53217919]] [[53216627, 53217590]]
NM_001011724 [[53191604, 53191817], [53196123, 53196399], [53201572, 53201713], [53203353, 53203494], [53206556, 53206629], [53211439, 53211581], [53216540, 53217919]] [[53216627, 53217590]]
Promoter
Chrom Start End Description
chr13 53173528 53173545 CAGE_peak_4_at_HNRNPA1L2_5end
chr13 53173859 53173865 CAGE_peak_3_at_HNRNPA1L2_5end
chr13 53174244 53174259 CAGE_peak_5_at_HNRNPA1L2_5end
chr13 53191613 53191624 CAGE_peak_2_at_HNRNPA1L2_5end
chr13 53216565 53216567 CAGE_peak_1_at_HNRNPA1L2_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr13 GH13I052623 52623600 52624596 0.79 [{'connected_gene': 'TPTE2P2', 'score': 13.81}, {'connected_gene': 'HNRNPA1L2', 'score': 0.44}, {'connected_gene': 'ENSG00000273784', 'score': 0.34}, {'connected_gene': 'MRPS31P4', 'score': 0.34}, {'connected_gene': 'ENSG00000273723', 'score': 0.31}]
chr13 GH13I052404 52404200 52406800 1.72 [{'connected_gene': 'THSD1', 'score': 550.77}, {'connected_gene': 'TPTE2P2', 'score': 14.11}, {'connected_gene': 'HNRNPA1L2', 'score': 3.95}, {'connected_gene': 'RNY4P24', 'score': 0.44}]
chr13 GH13I052779 52779137 52779245 0.22 [{'connected_gene': 'PCDH8', 'score': 3.08}, {'connected_gene': 'HNRNPA1L2', 'score': 1.49}, {'connected_gene': 'LOC105370209', 'score': 0.39}, {'connected_gene': 'MIR759', 'score': 0.29}]
chr13 GH13I052606 52606601 52607200 0.49 [{'connected_gene': 'CKAP2', 'score': 24.3}, {'connected_gene': 'TPTE2P2', 'score': 13.81}, {'connected_gene': 'ENSG00000273784', 'score': 0.44}, {'connected_gene': 'MRPS31P4', 'score': 0.44}, {'connected_gene': 'LINC00345', 'score': 0.44}, {'connected_gene': 'HNRNPA1L2', 'score': 0.39}]
chr13 GH13I052616 52616457 52618600 1.83 [{'connected_gene': 'HNRNPA1L2', 'score': 550.77}, {'connected_gene': 'TPTE2P2', 'score': 15.06}, {'connected_gene': 'UTP14C', 'score': 13.26}, {'connected_gene': 'ALG11', 'score': 13.13}, {'connected_gene': 'ENSG00000273784', 'score': 0.37}, {'connected_gene': 'MRPS31P4', 'score': 0.37}, {'connected_gene': 'ENSG00000273723', 'score': 0.29}]
chr13 GH13I052640 52640756 52640815 0.5 [{'connected_gene': 'HNRNPA1L2', 'score': 550.34}, {'connected_gene': 'TPTE2P2', 'score': 13.81}, {'connected_gene': 'MIR759', 'score': 10.41}, {'connected_gene': 'ENSG00000273723', 'score': 0.39}, {'connected_gene': 'ENSG00000273784', 'score': 0.26}]
chr13 GH13I052631 52631201 52631400 0.31 [{'connected_gene': 'HNRNPA1L2', 'score': 0.39}, {'connected_gene': 'ENSG00000273723', 'score': 0.34}, {'connected_gene': 'ENSG00000273784', 'score': 0.29}, {'connected_gene': 'MRPS31P4', 'score': 0.29}]
chr13 GH13I052642 52642382 52642441 0.5 [{'connected_gene': 'HNRNPA1L2', 'score': 550.34}, {'connected_gene': 'ENSG00000273723', 'score': 0.44}, {'connected_gene': 'ENSG00000273784', 'score': 0.26}]
chr13 GH13I052193 52193319 52196000 2.06 [{'connected_gene': 'MRPS31P5', 'score': 570.55}, {'connected_gene': 'ALG11', 'score': 54.8}, {'connected_gene': 'RPS4XP16', 'score': 40.0}, {'connected_gene': 'UTP14C', 'score': 38.07}, {'connected_gene': 'SUGT1', 'score': 38.02}, {'connected_gene': 'CKAP2', 'score': 34.32}, {'connected_gene': 'INTS6', 'score': 27.12}, {'connected_gene': 'SERPINE3', 'score': 22.39}, {'connected_gene': 'INTS6-AS1', 'score': 21.06}, {'connected_gene': 'TPTE2P2', 'score': 15.11}, {'connected_gene': 'NEK5', 'score': 12.35}, {'connected_gene': 'CTAGE3P', 'score': 12.2}, {'connected_gene': 'ATP7B', 'score': 11.69}, {'connected_gene': 'VPS36', 'score': 9.95}, {'connected_gene': 'HNRNPA1L2', 'score': 9.93}, {'connected_gene': 'PIR51896', 'score': 0.29}, {'connected_gene': 'ENSG00000217576', 'score': 0.15}]