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
ENST00000410053 [[180809602, 180810442], [180815238, 180815459], [180815551, 180815653], [180817197, 180817325], [180818931, 180819084], [180819683, 180819761], [180823748, 180823809], [180829273, 180829355], [180830604, 180830709], [180835227, 180835290], [180835376, 180835583], [180835667, 180835803], [180837919, 180837973], [180838360, 180838529], [180842916, 180843045], [180846478, 180846724], [180851421, 180851532], [180853303, 180853371], [180858041, 180858181], [180871593, 180871780]] [[180809855, 180810442], [180815238, 180815459], [180815551, 180815653], [180817197, 180817325], [180818931, 180819084], [180819683, 180819761], [180823748, 180823809], [180829273, 180829355], [180830604, 180830709], [180835227, 180835290], [180835376, 180835583], [180835667, 180835803], [180837919, 180837973], [180838360, 180838529], [180842916, 180843045], [180846478, 180846724], [180851421, 180851532], [180853303, 180853371], [180858041, 180858068]]
ENST00000295749 [[180809855, 180810442], [180815238, 180815459], [180815551, 180815653], [180817197, 180817325], [180818931, 180819084], [180819683, 180819761], [180823748, 180823809], [180829273, 180829355], [180830604, 180830709], [180835227, 180835290], [180835376, 180835583], [180835667, 180835803], [180837919, 180837973], [180838360, 180838533], [180842920, 180843045], [180846478, 180846724], [180851421, 180851532], [180853303, 180853371], [180858041, 180858181], [180871796, 180871840]] [[180809855, 180810442], [180815238, 180815459], [180815551, 180815653], [180817197, 180817325], [180818931, 180819084], [180819683, 180819761], [180823748, 180823809], [180829273, 180829355], [180830604, 180830709], [180835227, 180835290], [180835376, 180835583], [180835667, 180835803], [180837919, 180837973], [180838360, 180838533], [180842920, 180843045], [180846478, 180846724], [180851421, 180851532], [180853303, 180853371], [180858041, 180858068]]
ENST00000404136 [[180810347, 180810442], [180815238, 180815459], [180815551, 180815653], [180817197, 180817325], [180818931, 180819084], [180819683, 180819761], [180823748, 180823809], [180829273, 180829355], [180830604, 180830709], [180835227, 180835290], [180835376, 180835583], [180835667, 180835803], [180837919, 180837973], [180838360, 180838529], [180842916, 180843045], [180846478, 180846724], [180851421, 180851532], [180853303, 180853371], [180858041, 180858181], [180871796, 180871840]] [[180810347, 180810442], [180815238, 180815459], [180815551, 180815653], [180817197, 180817325], [180818931, 180819084], [180819683, 180819761], [180823748, 180823809], [180829273, 180829355], [180830604, 180830709], [180835227, 180835290], [180835376, 180835583], [180835667, 180835803], [180837919, 180837973], [180838360, 180838529], [180842916, 180843045], [180846478, 180846724], [180851421, 180851532], [180853303, 180853371], [180858041, 180858068]]
NM_020943 [[180809603, 180810442], [180815238, 180815459], [180815551, 180815653], [180817197, 180817325], [180818931, 180819084], [180819683, 180819761], [180823748, 180823809], [180829273, 180829355], [180830604, 180830709], [180835227, 180835290], [180835376, 180835583], [180835667, 180835803], [180837919, 180837973], [180838360, 180838529], [180842916, 180843045], [180846478, 180846724], [180851421, 180851532], [180853303, 180853371], [180858041, 180858181], [180871593, 180871780]] [[180809855, 180810442], [180815238, 180815459], [180815551, 180815653], [180817197, 180817325], [180818931, 180819084], [180819683, 180819761], [180823748, 180823809], [180829273, 180829355], [180830604, 180830709], [180835227, 180835290], [180835376, 180835583], [180835667, 180835803], [180837919, 180837973], [180838360, 180838529], [180842916, 180843045], [180846478, 180846724], [180851421, 180851532], [180853303, 180853371], [180858041, 180858068]]
Promoter
Chrom Start End Description
chr2 180871814 180871851 CAGE_peak_1_at_CWC22_5end
chr2 180871981 180872029 CAGE_peak_2_at_CWC22_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr2 GH02I180040 180040694 180040763 0.2 [{'connected_gene': 'CWC22', 'score': 0.29}, {'connected_gene': 'LOC105373767', 'score': 0.18}]
chr2 GH02I180033 180033995 180034851 1.03 [{'connected_gene': 'CWC22', 'score': 14.8}, {'connected_gene': 'LOC105373767', 'score': 0.16}]
chr2 GH02I180041 180040314 180040463 0.49 [{'connected_gene': 'CWC22', 'score': 0.29}, {'connected_gene': 'LOC105373767', 'score': 0.18}]
chr2 GH02I180015 180015727 180018076 0.6 [{'connected_gene': 'CWC22', 'score': 6.15}, {'connected_gene': 'LOC105373767', 'score': 0.14}]
chr2 GH02I180012 180012714 180012823 0.43 [{'connected_gene': 'CWC22', 'score': 0.44}, {'connected_gene': 'LOC105373767', 'score': 0.14}]
chr2 GH02I180056 180056013 180059807 0.52 [{'connected_gene': 'CWC22', 'score': 0.23}, {'connected_gene': 'LOC105373767', 'score': 0.2}]
chr2 GH02I180005 180005730 180007943 2.3 [{'connected_gene': 'CWC22', 'score': 556.12}, {'connected_gene': 'GC02P179935', 'score': 0.19}]
chr2 GH02I180006 180005128 180005187 0.5 [{'connected_gene': 'CWC22', 'score': 550.77}, {'connected_gene': 'GC02P179935', 'score': 0.2}]
chr2 GH02I180978 180978762 180982959 1.99 [{'connected_gene': 'UBE2E3', 'score': 560.77}, {'connected_gene': 'LOC105373772', 'score': 555.88}, {'connected_gene': 'CWC22', 'score': 14.2}, {'connected_gene': 'LINC01934', 'score': 0.13}]