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
ENST00000370551 [[87380330, 87380843], [87538616, 87538855], [87549876, 87549962], [87558213, 87558352], [87563520, 87564128]] [[87380719, 87380843], [87538616, 87538855], [87549876, 87549962], [87558213, 87558352], [87563520, 87563622]]
ENST00000370550 [[87380356, 87380843], [87538616, 87538855], [87549876, 87549962], [87558213, 87558352], [87563520, 87563618], [87569114, 87569272], [87570152, 87575681]] [[87380719, 87380843], [87538616, 87538855], [87549876, 87549962], [87558213, 87558352], [87563520, 87563618], [87569114, 87569272], [87570152, 87570379]]
ENST00000591456 [[87422166, 87422255], [87424122, 87424190], [87538616, 87538855], [87549876, 87549962], [87558213, 87558271]] [[87538666, 87538855], [87549876, 87549962], [87558213, 87558271]]
ENST00000356813 [[87458764, 87458810], [87538616, 87538855], [87549876, 87549962], [87558213, 87558352], [87563520, 87563618], [87569114, 87569272], [87599296, 87599401], [87599647, 87602334]] [[87458764, 87458810], [87538616, 87538855], [87549876, 87549962], [87558213, 87558352], [87563520, 87563618], [87569114, 87569272], [87599296, 87599401], [87599647, 87599745]]
NM_001134492 [[87380334, 87380843], [87538616, 87538855], [87549876, 87549962], [87558213, 87558352], [87563520, 87564125]] [[87380719, 87380843], [87538616, 87538855], [87549876, 87549962], [87558213, 87558352], [87563520, 87563622]]
NM_012262 [[87380334, 87380843], [87538616, 87538855], [87549876, 87549962], [87558213, 87558352], [87563520, 87563618], [87569114, 87569272], [87570152, 87575681]] [[87380719, 87380843], [87538616, 87538855], [87549876, 87549962], [87558213, 87558352], [87563520, 87563618], [87569114, 87569272], [87570152, 87570379]]
Promoter
Chrom Start End Description
chr1 87380299 87380475 CAGE_peak_1_at_HS2ST1_5end
chr1 87380489 87380514 CAGE_peak_5_at_HS2ST1_5end
chr1 87380591 87380619 CAGE_peak_3_at_HS2ST1_5end
chr1 87595497 87595541 CAGE_peak_2_at_HS2ST1_5end
chr1 87595542 87595557 CAGE_peak_6_at_HS2ST1_5end
chr1 87595558 87595574 CAGE_peak_8_at_HS2ST1_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr1 GH01I086912 86912438 86916851 2.1 [{'connected_gene': 'HS2ST1', 'score': 558.05}, {'connected_gene': 'SELENOF', 'score': 550.77}, {'connected_gene': 'LOC105378828', 'score': 12.56}]
chr1 GH01I086739 86739596 86740924 0.63 [{'connected_gene': 'HS2ST1', 'score': 4.57}, {'connected_gene': 'GC01P086761', 'score': 0.34}, {'connected_gene': 'GC01P086705', 'score': 0.29}, {'connected_gene': 'SH3GLB1', 'score': 0.28}]
chr1 GH01I087223 87223634 87227360 1.17 [{'connected_gene': 'LINC01140', 'score': 5.55}, {'connected_gene': 'HS2ST1', 'score': 1.72}, {'connected_gene': 'LMO4', 'score': 1.5}, {'connected_gene': 'GC01P087235', 'score': 0.39}, {'connected_gene': 'LOC101927844', 'score': 0.39}]
chr1 GH01I086971 86971551 86972410 0.52 [{'connected_gene': 'LOC105378828', 'score': 13.69}, {'connected_gene': 'ENSG00000267561', 'score': 0.34}, {'connected_gene': 'ENSG00000267734', 'score': 0.28}, {'connected_gene': 'HS2ST1', 'score': 0.22}]
chr1 GH01I087061 87061526 87063274 0.57 [{'connected_gene': 'LOC105378828', 'score': 11.98}, {'connected_gene': 'ODF2L', 'score': 10.01}, {'connected_gene': 'GC01P087079', 'score': 0.37}, {'connected_gene': 'LOC100421465', 'score': 0.37}, {'connected_gene': 'ENSG00000267561', 'score': 0.2}, {'connected_gene': 'HS2ST1', 'score': 0.11}]
chr1 GH01I087025 87025201 87025407 0.98 [{'connected_gene': 'LOC105378828', 'score': 6.35}, {'connected_gene': 'GC01M087008', 'score': 0.37}, {'connected_gene': 'PIR57554', 'score': 0.37}, {'connected_gene': 'LOC100421468', 'score': 0.34}, {'connected_gene': 'ENSG00000267561', 'score': 0.29}, {'connected_gene': 'HS2ST1', 'score': 0.14}]
chr1 GH01I087056 87056933 87059924 0.96 [{'connected_gene': 'LOC105378828', 'score': 12.12}, {'connected_gene': 'LOC100421465', 'score': 0.39}, {'connected_gene': 'GC01P087079', 'score': 0.34}, {'connected_gene': 'ENSG00000267561', 'score': 0.2}, {'connected_gene': 'HS2ST1', 'score': 0.11}]
chr1 GH01I087044 87044958 87046577 0.6 [{'connected_gene': 'LOC100421465', 'score': 550.77}, {'connected_gene': 'LOC100421468', 'score': 550.77}, {'connected_gene': 'LOC105378828', 'score': 13.75}, {'connected_gene': 'GC01M087008', 'score': 0.28}, {'connected_gene': 'PIR57554', 'score': 0.28}, {'connected_gene': 'ENSG00000267561', 'score': 0.23}, {'connected_gene': 'HS2ST1', 'score': 0.12}]
chr1 GH01I087202 87202401 87203400 0.93 [{'connected_gene': 'GC01M087204', 'score': 550.77}, {'connected_gene': 'HS2ST1', 'score': 2.43}, {'connected_gene': 'LMO4', 'score': 1.9}, {'connected_gene': 'GC01M087194', 'score': 0.44}]
chr1 GH01I086993 86993418 86993567 0.85 [{'connected_gene': 'ENSG00000267561', 'score': 550.77}, {'connected_gene': 'GC01M087008', 'score': 0.39}, {'connected_gene': 'PIR57554', 'score': 0.39}, {'connected_gene': 'HS2ST1', 'score': 0.18}]
chr1 GH01I087084 87084378 87084507 0.56 [{'connected_gene': 'GC01P087079', 'score': 0.77}, {'connected_gene': 'GC01P087094', 'score': 0.44}, {'connected_gene': 'ENSG00000267561', 'score': 0.16}, {'connected_gene': 'HS2ST1', 'score': 0.1}]
chr1 GH01I087794 87794696 87798370 1.01 [{'connected_gene': 'GC01P087798', 'score': 550.77}, {'connected_gene': 'HS2ST1', 'score': 4.14}, {'connected_gene': 'GC01M087659', 'score': 0.12}]
chr1 GH01I086992 86992918 86993067 0.56 [{'connected_gene': 'ENSG00000267561', 'score': 550.77}, {'connected_gene': 'LOC105378828', 'score': 11.42}, {'connected_gene': 'HS2ST1', 'score': 7.14}, {'connected_gene': 'ENSG00000267734', 'score': 0.22}]
chr1 GH01I086933 86933170 86935096 0.68 [{'connected_gene': 'ENSG00000267734', 'score': 550.77}, {'connected_gene': 'LOC105378828', 'score': 13.99}, {'connected_gene': 'HS2ST1', 'score': 7.84}]