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
ENST00000406936 [[76099349, 76100775], [76104249, 76104402], [76111799, 76111811], [76111899, 76111991]] [[76100724, 76100775], [76104249, 76104402], [76111799, 76111811], [76111899, 76111941]]
ENST00000377615 [[76099354, 76100775], [76104249, 76104402], [76111799, 76111811], [76111899, 76112056], [76112888, 76112938]] [[76100724, 76100775], [76104249, 76104402], [76111799, 76111811], [76111899, 76111941]]
ENST00000483290 [[76100571, 76100775], [76104249, 76104640]] None
ENST00000377619 [[76100571, 76100775], [76104249, 76104402], [76111517, 76111754]] [[76100724, 76100775], [76104249, 76104402], [76111517, 76111616]]
ENST00000486516 [[76100571, 76100775], [76104446, 76104541], [76111799, 76111811], [76111899, 76111962]] None
ENST00000355801 [[76100571, 76100775], [76101948, 76101987], [76104249, 76104402], [76111799, 76111811], [76111899, 76111977]] [[76100724, 76100775], [76101948, 76101987], [76104249, 76104402], [76111799, 76111811], [76111899, 76111941]]
ENST00000497707 [[76100571, 76100775], [76104446, 76104544], [76111799, 76111811], [76111899, 76111977]] None
ENST00000377612 [[76100571, 76100775], [76104249, 76104395], [76111876, 76112056], [76112888, 76112938]] [[76104340, 76104395], [76111876, 76111941]]
ENST00000460675 [[76100571, 76100775], [76104249, 76104402], [76123458, 76123564]] None
ENST00000464050 [[76103844, 76104541], [76111799, 76111811], [76111899, 76111980]] None
ENST00000477377 [[76103959, 76104402], [76111799, 76111811], [76111899, 76111977]] None
ENST00000471682 [[76104249, 76104402], [76111634, 76111811], [76123458, 76123575]] None
NM_203497 [[76099349, 76100775], [76101948, 76101987], [76104249, 76104402], [76111799, 76111811], [76111899, 76112008]] [[76100724, 76100775], [76101948, 76101987], [76104249, 76104402], [76111799, 76111811], [76111899, 76111941]]
NM_001287392 [[76099354, 76100775], [76104249, 76104402], [76111619, 76111811], [76111899, 76112008]] [[76100724, 76100775], [76104249, 76104375]]
NM_001287393 [[76099354, 76100775], [76104249, 76104402], [76111634, 76111811], [76111899, 76112008]] [[76100724, 76100775], [76104249, 76104375]]
NM_203495 [[76099354, 76100775], [76104249, 76104402], [76111799, 76111811], [76111899, 76112008]] [[76100724, 76100775], [76104249, 76104402], [76111799, 76111811], [76111899, 76111941]]
NM_001287394 [[76099354, 76100775], [76104249, 76104402], [76123458, 76123575]] [[76100724, 76100775], [76104249, 76104375]]
Promoter
Chrom Start End Description
chr13 76111945 76111991 CAGE_peak_1_at_COMMD6_5end
chr13 76123558 76123583 CAGE_peak_2_at_COMMD6_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr13 GH13I075373 75373023 75373883 0.82 [{'connected_gene': 'TBC1D4', 'score': 16.79}, {'connected_gene': 'UCHL3', 'score': 11.8}, {'connected_gene': 'COMMD6', 'score': 11.8}, {'connected_gene': 'ENSG00000225203', 'score': 0.77}, {'connected_gene': 'LINC01078', 'score': 0.13}]
chr13 GH13I075372 75372401 75372800 0.83 [{'connected_gene': 'TBC1D4', 'score': 17.27}, {'connected_gene': 'UCHL3', 'score': 11.8}, {'connected_gene': 'COMMD6', 'score': 11.8}, {'connected_gene': 'ENSG00000225203', 'score': 0.77}, {'connected_gene': 'LINC01078', 'score': 0.13}]
chr13 GH13I075480 75479258 75483290 2.27 [{'connected_gene': 'TBC1D4', 'score': 555.62}, {'connected_gene': 'COMMD6', 'score': 27.26}, {'connected_gene': 'UCHL3', 'score': 12.1}, {'connected_gene': 'ENSG00000228444', 'score': 10.13}, {'connected_gene': 'LMO7-AS1', 'score': 5.35}, {'connected_gene': 'ENSG00000225203', 'score': 0.15}]
chr13 GH13I075491 75491785 75493756 0.68 [{'connected_gene': 'UCHL3', 'score': 12.4}, {'connected_gene': 'COMMD6', 'score': 12.4}, {'connected_gene': 'ENSG00000225203', 'score': 10.98}, {'connected_gene': 'TBC1D4', 'score': 0.39}, {'connected_gene': 'PIR51840', 'score': 0.31}]
chr13 GH13I075476 75476775 75477201 0.2 [{'connected_gene': 'UCHL3', 'score': 12.06}, {'connected_gene': 'COMMD6', 'score': 12.06}, {'connected_gene': 'ENSG00000225203', 'score': 11.1}, {'connected_gene': 'TBC1D4', 'score': 5.32}]
chr13 GH13I075504 75504974 75505915 0.54 [{'connected_gene': 'UCHL3', 'score': 13.02}, {'connected_gene': 'COMMD6', 'score': 13.02}, {'connected_gene': 'TBC1D4', 'score': 4.77}, {'connected_gene': 'PIR51840', 'score': 0.37}]
chr13 GH13I075485 75485124 75486514 0.65 [{'connected_gene': 'UCHL3', 'score': 12.1}, {'connected_gene': 'COMMD6', 'score': 12.1}, {'connected_gene': 'LMO7-AS1', 'score': 5.08}, {'connected_gene': 'TBC1D4', 'score': 5.04}, {'connected_gene': 'PIR51840', 'score': 0.28}]
chr13 GH13I075544 75544808 75545569 0.62 [{'connected_gene': 'UCHL3', 'score': 12.74}, {'connected_gene': 'COMMD6', 'score': 8.81}, {'connected_gene': 'GC13M075537', 'score': 0.77}]
chr13 GH13I075758 75758892 75764654 2.66 [{'connected_gene': 'LMO7', 'score': 558.24}, {'connected_gene': 'LMO7DN', 'score': 16.85}, {'connected_gene': 'LMO7-AS1', 'score': 7.67}, {'connected_gene': 'COMMD6', 'score': 1.15}, {'connected_gene': 'GC13M075699', 'score': 0.23}, {'connected_gene': 'GC13M075860', 'score': 0.15}, {'connected_gene': 'ENSG00000261553', 'score': 0.08}]
chr13 GH13I075712 75712017 75715061 0.31 [{'connected_gene': 'LMO7', 'score': 4.53}, {'connected_gene': 'COMMD6', 'score': 4.46}, {'connected_gene': 'GC13M075699', 'score': 0.44}, {'connected_gene': 'GC13M075860', 'score': 0.11}, {'connected_gene': 'ENSG00000261553', 'score': 0.1}]
chr13 GH13I075512 75512195 75512767 0.56 [{'connected_gene': 'COMMD6', 'score': 7.55}, {'connected_gene': 'PIR51840', 'score': 0.44}, {'connected_gene': 'TBC1D4', 'score': 0.31}]
chr13 GH13I075477 75477801 75478200 0.4 [{'connected_gene': 'COMMD6', 'score': 6.51}, {'connected_gene': 'TBC1D4', 'score': 5.2}, {'connected_gene': 'ENSG00000225203', 'score': 0.15}]
chr13 GH13I075506 75506201 75506407 0.37 [{'connected_gene': 'COMMD6', 'score': 18.98}, {'connected_gene': 'UCHL3', 'score': 13.02}, {'connected_gene': 'PIR51840', 'score': 0.39}, {'connected_gene': 'TBC1D4', 'score': 0.34}]
chr13 GH13I075489 75489401 75490400 1.03 [{'connected_gene': 'COMMD6', 'score': 19.41}, {'connected_gene': 'UCHL3', 'score': 12.4}, {'connected_gene': 'TBC1D4', 'score': 0.44}, {'connected_gene': 'PIR51840', 'score': 0.29}]
chr13 GH13I075495 75495642 75496674 0.2 [{'connected_gene': 'COMMD6', 'score': 18.78}, {'connected_gene': 'UCHL3', 'score': 11.76}, {'connected_gene': 'ENSG00000225203', 'score': 10.98}, {'connected_gene': 'TBC1D4', 'score': 4.96}, {'connected_gene': 'PIR51840', 'score': 0.31}]
chr13 GH13I075537 75537000 75538774 2.01 [{'connected_gene': 'COMMD6', 'score': 558.03}, {'connected_gene': 'UCHL3', 'score': 10.3}, {'connected_gene': 'LMO7-AS1', 'score': 8.66}, {'connected_gene': 'GC13M075537', 'score': 0.77}, {'connected_gene': 'GC13P075531', 'score': 0.44}]
chr13 GH13I075548 75548739 75551005 2.04 [{'connected_gene': 'COMMD6', 'score': 571.47}, {'connected_gene': 'UCHL3', 'score': 563.05}, {'connected_gene': 'ENSG00000261553', 'score': 550.77}, {'connected_gene': 'LMO7-AS1', 'score': 7.97}, {'connected_gene': 'GC13M075563', 'score': 0.39}]
chr13 GH13I074769 74769370 74773304 0.69 [{'connected_gene': 'COMMD6', 'score': 4.93}, {'connected_gene': 'LOC105370260', 'score': 0.28}, {'connected_gene': 'RIOK3P1', 'score': 0.22}]
chr13 GH13I075634 75634965 75638008 1.62 [{'connected_gene': 'LMO7-AS1', 'score': 608.02}, {'connected_gene': 'UCHL3', 'score': 10.67}, {'connected_gene': 'COMMD6', 'score': 10.67}, {'connected_gene': 'GC13P075644', 'score': 0.44}, {'connected_gene': 'LMO7', 'score': 0.37}, {'connected_gene': 'ENSG00000261553', 'score': 0.17}]
chr13 GH13I075632 75632587 75634490 1.03 [{'connected_gene': 'LMO7-AS1', 'score': 66.4}, {'connected_gene': 'UCHL3', 'score': 10.68}, {'connected_gene': 'COMMD6', 'score': 10.68}, {'connected_gene': 'ENSG00000228444', 'score': 0.77}, {'connected_gene': 'LMO7', 'score': 0.39}, {'connected_gene': 'ENSG00000261553', 'score': 0.18}]
chr13 GH13I075541 75541345 75541554 0.43 [{'connected_gene': 'GC13M075537', 'score': 550.77}, {'connected_gene': 'UCHL3', 'score': 0.44}, {'connected_gene': 'COMMD6', 'score': 0.44}, {'connected_gene': 'GC13P075531', 'score': 0.39}]
chr13 GH13I075405 75405650 75407162 0.87 [{'connected_gene': 'ENSG00000225203', 'score': 11.65}, {'connected_gene': 'COMMD6', 'score': 4.93}, {'connected_gene': 'LMO7-AS1', 'score': 4.87}, {'connected_gene': 'TBC1D4', 'score': 0.18}]