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
ENST00000452013 [[99357318, 99357508], [99463740, 99463865], [99509523, 99509854], [99513073, 99513086]] [[99509526, 99509854], [99513073, 99513086]]
ENST00000261037 [[99357318, 99357508], [99394503, 99394565], [99463740, 99463865], [99509523, 99509854], [99513073, 99518070]] [[99509526, 99509854], [99513073, 99514980]]
ENST00000273342 [[99357453, 99357508], [99463740, 99463865], [99509523, 99509854], [99513073, 99515158]] [[99509526, 99509854], [99513073, 99514980]]
ENST00000463753 [[99357318, 99357508], [99394503, 99394565], [99396594, 99399306]] None
ENST00000483969 [[99357318, 99357508], [99394503, 99394565], [99404276, 99404383], [99410242, 99410715]] None
ENST00000474648 [[99357318, 99357508], [99394503, 99394565], [99404276, 99404383], [99410242, 99410412], [99422150, 99422462]] None
ENST00000462604 [[99425914, 99426013], [99463740, 99463831]] None
NM_020351 [[99357439, 99357508], [99463740, 99463865], [99509523, 99509854], [99513073, 99515577]] [[99509526, 99509854], [99513073, 99514980]]
NM_001850 [[99357439, 99357508], [99394503, 99394565], [99463740, 99463865], [99509523, 99509854], [99513073, 99515577]] [[99509526, 99509854], [99513073, 99514980]]
Promoter
Chrom Start End Description
chr3 99357430 99357445 CAGE_peak_1_at_COL8A1_5end
chr3 99463740 99463765 CAGE_peak_5_at_COL8A1_5end
chr3 99509555 99509574 CAGE_peak_3_at_COL8A1_5end
chr3 99509604 99509650 CAGE_peak_2_at_COL8A1_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr3 GH03I099682 99682432 99685603 0.2 [{'connected_gene': 'CMSS1', 'score': 3.89}, {'connected_gene': 'GC03M099681', 'score': 0.77}, {'connected_gene': 'GC03M099657', 'score': 0.37}, {'connected_gene': 'COL8A1', 'score': 0.25}]
chr3 GH03I099677 99677397 99678906 0.78 [{'connected_gene': 'TMEM45A', 'score': 4.37}, {'connected_gene': 'CMSS1', 'score': 3.86}, {'connected_gene': 'GC03M099681', 'score': 0.44}, {'connected_gene': 'GC03M099657', 'score': 0.39}, {'connected_gene': 'COL8A1', 'score': 0.28}]
chr3 GH03I099669 99669153 99671696 0.54 [{'connected_gene': 'TMEM45A', 'score': 4.37}, {'connected_gene': 'CMSS1', 'score': 3.84}, {'connected_gene': 'GC03M099657', 'score': 0.44}, {'connected_gene': 'GC03M099681', 'score': 0.37}, {'connected_gene': 'COL8A1', 'score': 0.29}]
chr3 GH03I099657 99657498 99661082 1.2 [{'connected_gene': 'TMEM45A', 'score': 4.45}, {'connected_gene': 'COL8A1', 'score': 2.18}, {'connected_gene': 'GC03M099657', 'score': 0.77}]
chr3 GH03I099508 99508887 99509849 0.4 [{'connected_gene': 'DCBLD2', 'score': 4.66}, {'connected_gene': 'COL8A1', 'score': 4.46}, {'connected_gene': 'LOC105374006', 'score': 0.77}, {'connected_gene': 'LOC105374005', 'score': 0.28}]
chr3 GH03I099698 99698847 99701601 1.24 [{'connected_gene': 'COL8A1', 'score': 554.12}, {'connected_gene': 'TMEM45A', 'score': 4.38}, {'connected_gene': 'GC03M099681', 'score': 0.39}, {'connected_gene': 'GC03M099723', 'score': 0.31}]
chr3 GH03I099547 99547845 99550903 0.46 [{'connected_gene': 'COL8A1', 'score': 5.41}, {'connected_gene': 'DCBLD2', 'score': 4.48}, {'connected_gene': 'LOC105374005', 'score': 0.77}, {'connected_gene': 'LOC105374007', 'score': 0.25}]
chr3 GH03I099535 99535105 99536121 1.08 [{'connected_gene': 'COL8A1', 'score': 6.1}, {'connected_gene': 'DCBLD2', 'score': 4.06}, {'connected_gene': 'LOC105374005', 'score': 0.39}, {'connected_gene': 'LOC105374006', 'score': 0.31}]
chr3 GH03I099409 99409953 99412177 0.84 [{'connected_gene': 'COL8A1', 'score': 16.87}, {'connected_gene': 'DCBLD2', 'score': 4.54}, {'connected_gene': 'GC03M099417', 'score': 0.39}, {'connected_gene': 'LOC105374004', 'score': 0.19}]
chr3 GH03I099578 99578802 99579279 0.31 [{'connected_gene': 'COL8A1', 'score': 4.73}, {'connected_gene': 'LOC105374007', 'score': 0.37}, {'connected_gene': 'LOC105374005', 'score': 0.29}]
chr3 GH03I099524 99524666 99524869 0.29 [{'connected_gene': 'COL8A1', 'score': 5.71}, {'connected_gene': 'LOC105374006', 'score': 0.37}, {'connected_gene': 'LOC105374005', 'score': 0.34}]
chr3 GH03I099419 99418028 99418681 0.68 [{'connected_gene': 'COL8A1', 'score': 16.86}, {'connected_gene': 'GC03M099417', 'score': 0.77}, {'connected_gene': 'LOC105374004', 'score': 0.18}]
chr3 GH03I099396 99396757 99396906 0.2 [{'connected_gene': 'COL8A1', 'score': 15.89}, {'connected_gene': 'GC03M099417', 'score': 0.31}, {'connected_gene': 'LOC105374004', 'score': 0.22}]
chr3 GH03I099412 99412549 99414720 0.38 [{'connected_gene': 'COL8A1', 'score': 16.86}, {'connected_gene': 'GC03M099417', 'score': 0.44}, {'connected_gene': 'LOC105374004', 'score': 0.18}]
chr3 GH03I099394 99394045 99396665 0.65 [{'connected_gene': 'COL8A1', 'score': 16.86}, {'connected_gene': 'GC03M099417', 'score': 0.31}, {'connected_gene': 'LOC105374004', 'score': 0.22}]
chr3 GH03I099418 99418711 99419886 0.9 [{'connected_gene': 'COL8A1', 'score': 16.87}, {'connected_gene': 'GC03M099417', 'score': 0.77}, {'connected_gene': 'LOC105374004', 'score': 0.18}]
chr3 GH03I099636 99636535 99649322 2.25 [{'connected_gene': 'COL8A1', 'score': 559.24}, {'connected_gene': 'GC03M099636', 'score': 0.77}, {'connected_gene': 'GC03M099657', 'score': 0.34}]
chr3 GH03I099472 99472467 99473922 0.38 [{'connected_gene': 'COL8A1', 'score': 4.44}, {'connected_gene': 'GC03M099454', 'score': 0.39}, {'connected_gene': 'ENSG00000243296', 'score': 0.31}]
chr3 GH03I099650 99650891 99652711 0.72 [{'connected_gene': 'COL8A1', 'score': 8.04}, {'connected_gene': 'GC03M099657', 'score': 0.39}]
chr3 GH03I099721 99721000 99721963 0.89 [{'connected_gene': 'FILIP1L', 'score': 5.4}, {'connected_gene': 'TMEM45A', 'score': 4.38}, {'connected_gene': 'COL8A1', 'score': 4.08}, {'connected_gene': 'GC03M099723', 'score': 0.44}, {'connected_gene': 'GC03M099681', 'score': 0.29}]
chr3 GH03I099774 99774137 99775163 0.57 [{'connected_gene': 'FILIP1L', 'score': 7.01}, {'connected_gene': 'TMEM45A', 'score': 4.37}, {'connected_gene': 'GC03P099792', 'score': 0.37}, {'connected_gene': 'PIR47462', 'score': 0.28}, {'connected_gene': 'COL8A1', 'score': 0.12}]
chr3 GH03I099750 99750657 99754126 0.85 [{'connected_gene': 'FILIP1L', 'score': 12.54}, {'connected_gene': 'LNP1', 'score': 5.01}, {'connected_gene': 'TMEM45A', 'score': 4.49}, {'connected_gene': 'PIR47462', 'score': 0.39}, {'connected_gene': 'GC03P099792', 'score': 0.28}, {'connected_gene': 'COL8A1', 'score': 0.14}]
chr3 GH03I099780 99780265 99783881 0.59 [{'connected_gene': 'FILIP1L', 'score': 16.46}, {'connected_gene': 'COL8A1', 'score': 4.06}, {'connected_gene': 'GC03P099792', 'score': 0.39}, {'connected_gene': 'PIR47462', 'score': 0.26}]
chr3 GH03I099709 99708637 99708786 0.58 [{'connected_gene': 'FILIP1L', 'score': 5.31}, {'connected_gene': 'GC03M099723', 'score': 0.34}, {'connected_gene': 'GC03M099681', 'score': 0.34}, {'connected_gene': 'COL8A1', 'score': 0.19}]
chr3 GH03I100156 100156955 100161742 0.92 [{'connected_gene': 'LOC105374009', 'score': 550.77}, {'connected_gene': 'FILIP1L', 'score': 19.86}, {'connected_gene': 'TMEM30CP', 'score': 11.35}, {'connected_gene': 'CMSS1', 'score': 10.92}, {'connected_gene': 'TBC1D23', 'score': 5.44}, {'connected_gene': 'COL8A1', 'score': 3.83}, {'connected_gene': 'GC03P100154', 'score': 0.77}]
chr3 GH03I099502 99502970 99506686 1.24 [{'connected_gene': 'LOC105374006', 'score': 550.77}, {'connected_gene': 'COL8A1', 'score': 5.88}, {'connected_gene': 'ENSG00000243296', 'score': 0.77}, {'connected_gene': 'LOC105374005', 'score': 0.26}]
chr3 GH03I099542 99542356 99546601 1.26 [{'connected_gene': 'LOC105374005', 'score': 550.77}, {'connected_gene': 'COL8A1', 'score': 6.56}, {'connected_gene': 'DCBLD2', 'score': 4.48}, {'connected_gene': 'LOC105374006', 'score': 0.28}]
chr3 GH03I099662 99662153 99669140 0.46 [{'connected_gene': 'GC03M099657', 'score': 550.77}, {'connected_gene': 'COL8A1', 'score': 8.46}, {'connected_gene': 'TMEM45A', 'score': 4.37}, {'connected_gene': 'CMSS1', 'score': 3.97}, {'connected_gene': 'GC03M099681', 'score': 0.34}]
chr3 GH03I099708 99708197 99708346 0.4 [{'connected_gene': 'GC03M099723', 'score': 0.34}, {'connected_gene': 'GC03M099681', 'score': 0.34}, {'connected_gene': 'COL8A1', 'score': 0.2}]
chr3 GH03I099656 99656717 99656866 0.4 [{'connected_gene': 'GC03M099657', 'score': 0.44}, {'connected_gene': 'COL8A1', 'score': 0.37}]
chr3 GH03I099688 99688161 99691198 0.38 [{'connected_gene': 'GC03M099681', 'score': 0.77}, {'connected_gene': 'GC03M099723', 'score': 0.28}, {'connected_gene': 'COL8A1', 'score': 0.23}]
chr3 GH03I099718 99718990 99720418 0.2 [{'connected_gene': 'GC03M099723', 'score': 0.44}, {'connected_gene': 'GC03M099681', 'score': 0.29}, {'connected_gene': 'COL8A1', 'score': 0.18}]
chr3 GH03I099674 99674497 99674646 0.51 [{'connected_gene': 'GC03M099681', 'score': 0.39}, {'connected_gene': 'GC03M099657', 'score': 0.39}, {'connected_gene': 'COL8A1', 'score': 0.28}]