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
ENST00000252242 [[52908358, 52909024], [52909581, 52909616], [52910420, 52910641], [52910890, 52911016], [52911373, 52911538], [52911680, 52911776], [52911886, 52911947], [52912729, 52912944], [52913525, 52914471]] [[52908725, 52909024], [52909581, 52909616], [52910420, 52910641], [52910890, 52911016], [52911373, 52911538], [52911680, 52911776], [52911886, 52911947], [52912729, 52912944], [52913525, 52914080]]
ENST00000552952 [[52908779, 52909024], [52909581, 52909980]] None
ENST00000549511 [[52908896, 52909024], [52909581, 52909616], [52910420, 52910641], [52910890, 52911016], [52911373, 52911672]] None
ENST00000548409 [[52909241, 52909616], [52910420, 52910641], [52910890, 52911016], [52911373, 52911538], [52911680, 52911729]] [[52909573, 52909616], [52910420, 52910641], [52910890, 52911016], [52911373, 52911538], [52911680, 52911729]]
ENST00000552629 [[52909911, 52910641], [52910890, 52911016], [52911373, 52911538], [52911680, 52911776], [52911886, 52911947], [52912729, 52912944], [52913525, 52914178]] None
ENST00000547890 [[52910473, 52911016], [52911373, 52911538], [52911680, 52911736]] None
ENST00000551013 [[52910940, 52911016], [52911373, 52911538], [52911680, 52911947], [52912729, 52912944], [52913318, 52913401]] None
ENST00000551188 [[52910964, 52911016], [52911373, 52911538], [52911680, 52911776], [52911886, 52911947], [52912236, 52912277], [52912729, 52912901]] [[52910964, 52911016], [52911373, 52911538], [52911680, 52911776], [52911886, 52911947], [52912236, 52912277], [52912729, 52912901]]
ENST00000549420 [[52911741, 52911776], [52911886, 52911947], [52912729, 52912944], [52913525, 52913707], [52914037, 52914155]] [[52911741, 52911776], [52911886, 52911947], [52912729, 52912944], [52913525, 52913707], [52914037, 52914080]]
ENST00000551275 [[52913534, 52913803], [52913908, 52914178]] [[52913534, 52913803], [52913908, 52914080]]
ENST00000546577 [[52913684, 52914092], [52914180, 52914314]] [[52913684, 52914080]]
NM_000424 [[52908358, 52909024], [52909581, 52909616], [52910420, 52910641], [52910890, 52911016], [52911373, 52911538], [52911680, 52911776], [52911886, 52911947], [52912729, 52912944], [52913525, 52914243]] [[52908725, 52909024], [52909581, 52909616], [52910420, 52910641], [52910890, 52911016], [52911373, 52911538], [52911680, 52911776], [52911886, 52911947], [52912729, 52912944], [52913525, 52914080]]
Promoter
Chrom Start End Description
chr12 52911397 52911445 CAGE_peak_5_at_KRT5_5end
chr12 52911499 52911548 CAGE_peak_6_at_KRT5_5end
chr12 52911718 52911760 CAGE_peak_3_at_KRT5_5end
chr12 52911768 52911778 CAGE_peak_9_at_KRT5_5end
chr12 52911917 52911958 CAGE_peak_2_at_KRT5_5end
chr12 52912779 52912805 CAGE_peak_7_at_KRT5_5end
chr12 52912957 52912973 CAGE_peak_17_at_KRT5_5end
chr12 52913230 52913233 CAGE_peak_11_at_KRT5_5end
chr12 52913583 52913599 CAGE_peak_8_at_KRT5_5end
chr12 52913604 52913643 CAGE_peak_4_at_KRT5_5end
chr12 52914170 52914185 CAGE_peak_1_at_KRT5_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr12 GH12I052277 52277299 52286486 1.73 [{'connected_gene': 'KRT86', 'score': 27.96}, {'connected_gene': 'ZNF740', 'score': 15.06}, {'connected_gene': 'KRT80', 'score': 13.3}, {'connected_gene': 'KRT7', 'score': 13.27}, {'connected_gene': 'HNRNPA3P10', 'score': 12.85}, {'connected_gene': 'CSAD', 'score': 11.97}, {'connected_gene': 'KRT87P', 'score': 11.89}, {'connected_gene': 'KRT83', 'score': 11.14}, {'connected_gene': 'ENSG00000257808', 'score': 9.87}, {'connected_gene': 'NR4A1', 'score': 3.36}, {'connected_gene': 'ATG101', 'score': 3.05}, {'connected_gene': 'KRT5', 'score': 1.77}, {'connected_gene': 'KRT6A', 'score': 1.65}, {'connected_gene': 'KRT84', 'score': 1.29}, {'connected_gene': 'ENSG00000257830', 'score': 0.77}, {'connected_gene': 'KRT81', 'score': 0.31}, {'connected_gene': 'ENSG00000257829', 'score': 0.31}, {'connected_gene': 'GC12P052156', 'score': 0.13}]
chr12 GH12I052491 52491379 52497734 1.85 [{'connected_gene': 'KRT6A', 'score': 563.51}, {'connected_gene': 'KRT6C', 'score': 21.45}, {'connected_gene': 'KRT5', 'score': 19.58}, {'connected_gene': 'KRT71', 'score': 10.39}, {'connected_gene': 'KRT82', 'score': 10.29}, {'connected_gene': 'KRT84', 'score': 10.01}, {'connected_gene': 'KRT87P', 'score': 9.88}, {'connected_gene': 'KRT86', 'score': 9.88}, {'connected_gene': 'KRT2', 'score': 9.71}, {'connected_gene': 'KRT78', 'score': 9.69}, {'connected_gene': 'KRT83', 'score': 9.47}, {'connected_gene': 'PFDN5', 'score': 4.93}, {'connected_gene': 'KRT6B', 'score': 3.27}, {'connected_gene': 'ATG101', 'score': 1.61}, {'connected_gene': 'KRT75', 'score': 1.48}, {'connected_gene': 'KRT7', 'score': 1.33}, {'connected_gene': 'KRT18', 'score': 1.3}, {'connected_gene': 'GC12M052518', 'score': 0.34}]
chr12 GH12I052513 52513353 52514578 0.77 [{'connected_gene': 'KRT6A', 'score': 10.71}, {'connected_gene': 'KRT71', 'score': 10.38}, {'connected_gene': 'KRT6C', 'score': 10.03}, {'connected_gene': 'KRT5', 'score': 5.54}, {'connected_gene': 'ENSG00000259884', 'score': 5.2}, {'connected_gene': 'GC12M052518', 'score': 0.44}]
chr12 GH12I052515 52515331 52526757 1.77 [{'connected_gene': 'KRT5', 'score': 568.84}, {'connected_gene': 'GC12M052518', 'score': 550.77}, {'connected_gene': 'KRT6A', 'score': 17.52}, {'connected_gene': 'KRT6C', 'score': 11.83}, {'connected_gene': 'KRT71', 'score': 11.19}, {'connected_gene': 'KRT74', 'score': 10.6}, {'connected_gene': 'KRT84', 'score': 9.95}, {'connected_gene': 'KRT2', 'score': 9.93}, {'connected_gene': 'KRT4', 'score': 9.72}, {'connected_gene': 'KRT82', 'score': 9.69}, {'connected_gene': 'KRT83', 'score': 9.27}, {'connected_gene': 'KRT78', 'score': 9.22}, {'connected_gene': 'ENSG00000259884', 'score': 5.2}, {'connected_gene': 'KRT6B', 'score': 4.2}, {'connected_gene': 'KRT1', 'score': 4.16}, {'connected_gene': 'KRT76', 'score': 3.68}, {'connected_gene': 'ATG101', 'score': 2.28}, {'connected_gene': 'KRT75', 'score': 1.53}, {'connected_gene': 'GC12P052543', 'score': 0.34}]
chr12 GH12I052869 52869799 52876851 1.78 [{'connected_gene': 'KRT2', 'score': 20.63}, {'connected_gene': 'PCBP2', 'score': 19.35}, {'connected_gene': 'EIF4B', 'score': 15.65}, {'connected_gene': 'AAAS', 'score': 15.53}, {'connected_gene': 'SP1', 'score': 14.86}, {'connected_gene': 'ZNF740', 'score': 14.44}, {'connected_gene': 'ATF7', 'score': 12.74}, {'connected_gene': 'KRT84', 'score': 12.12}, {'connected_gene': 'LOC100652999', 'score': 12.05}, {'connected_gene': 'PFDN5', 'score': 10.79}, {'connected_gene': 'CALCOCO1', 'score': 10.75}, {'connected_gene': 'KRT79', 'score': 10.51}, {'connected_gene': 'ENSG00000257808', 'score': 9.79}, {'connected_gene': 'KRT4', 'score': 7.83}, {'connected_gene': 'KRT8', 'score': 7.29}, {'connected_gene': 'KRT18', 'score': 6.57}, {'connected_gene': 'KRT78', 'score': 6.4}, {'connected_gene': 'KRT3', 'score': 5.12}, {'connected_gene': 'KRT6C', 'score': 3.8}, {'connected_gene': 'KRT76', 'score': 3.79}, {'connected_gene': 'KRT1', 'score': 3.04}, {'connected_gene': 'RARG', 'score': 2.73}, {'connected_gene': 'KRT6A', 'score': 1.41}, {'connected_gene': 'KRT5', 'score': 1.26}, {'connected_gene': 'RPL7P41', 'score': 0.39}]
chr12 GH12I052566 52566380 52568150 0.52 [{'connected_gene': 'KRT1', 'score': 10.89}, {'connected_gene': 'KRT5', 'score': 10.09}, {'connected_gene': 'KRT79', 'score': 9.83}, {'connected_gene': 'KRT78', 'score': 9.73}, {'connected_gene': 'KRT4', 'score': 9.49}, {'connected_gene': 'KRT72', 'score': 8.4}, {'connected_gene': 'KRT73', 'score': 4.76}, {'connected_gene': 'KRT74', 'score': 0.44}, {'connected_gene': 'KRT71', 'score': 0.39}, {'connected_gene': 'GC12P052549', 'score': 0.37}]
chr12 GH12I052859 52859506 52861333 1.33 [{'connected_gene': 'KRT79', 'score': 11.14}, {'connected_gene': 'KRT4', 'score': 10.85}, {'connected_gene': 'KRT76', 'score': 10.38}, {'connected_gene': 'KRT1', 'score': 10.36}, {'connected_gene': 'KRT2', 'score': 9.84}, {'connected_gene': 'KRT83', 'score': 9.51}, {'connected_gene': 'KRT71', 'score': 9.36}, {'connected_gene': 'KRT6A', 'score': 2.04}, {'connected_gene': 'RARG', 'score': 1.81}, {'connected_gene': 'KRT5', 'score': 1.47}, {'connected_gene': 'KRT78', 'score': 0.39}, {'connected_gene': 'RPL7P41', 'score': 0.31}]
chr12 GH12I052499 52499348 52501040 0.2 [{'connected_gene': 'KRT6C', 'score': 21.18}, {'connected_gene': 'KRT5', 'score': 11.17}, {'connected_gene': 'KRT71', 'score': 10.4}, {'connected_gene': 'KRT82', 'score': 10.28}, {'connected_gene': 'KRT84', 'score': 10.0}, {'connected_gene': 'KRT87P', 'score': 9.88}, {'connected_gene': 'KRT86', 'score': 9.88}, {'connected_gene': 'KRT78', 'score': 9.69}, {'connected_gene': 'KRT83', 'score': 9.48}, {'connected_gene': 'KRT2', 'score': 9.21}, {'connected_gene': 'KRT6A', 'score': 7.13}, {'connected_gene': 'GC12M052518', 'score': 0.37}]
chr12 GH12I052506 52506844 52507581 0.63 [{'connected_gene': 'KRT6C', 'score': 10.61}, {'connected_gene': 'KRT71', 'score': 10.36}, {'connected_gene': 'KRT82', 'score': 10.21}, {'connected_gene': 'KRT84', 'score': 10.15}, {'connected_gene': 'KRT78', 'score': 9.64}, {'connected_gene': 'KRT4', 'score': 9.33}, {'connected_gene': 'ENSG00000259884', 'score': 5.88}, {'connected_gene': 'KRT5', 'score': 5.5}, {'connected_gene': 'GC12M052518', 'score': 0.39}, {'connected_gene': 'KRT6A', 'score': 0.39}]
chr12 GH12I052538 52538841 52539845 0.79 [{'connected_gene': 'KRT74', 'score': 11.18}, {'connected_gene': 'KRT84', 'score': 9.68}, {'connected_gene': 'KRT4', 'score': 9.62}, {'connected_gene': 'GC12P052543', 'score': 0.77}, {'connected_gene': 'KRT5', 'score': 0.37}]
chr12 GH12I052531 52531757 52531906 0.2 [{'connected_gene': 'KRT71', 'score': 11.31}, {'connected_gene': 'KRT84', 'score': 9.99}, {'connected_gene': 'KRT5', 'score': 0.39}, {'connected_gene': 'GC12P052543', 'score': 0.39}]
chr12 GH12I052143 52143138 52158068 1.71 [{'connected_gene': 'HNRNPA3P10', 'score': 24.14}, {'connected_gene': 'EIF4B', 'score': 15.56}, {'connected_gene': 'KRT7-AS', 'score': 10.63}, {'connected_gene': 'KRT5', 'score': 9.83}, {'connected_gene': 'ENSG00000257989', 'score': 7.16}, {'connected_gene': 'KRT7', 'score': 5.58}, {'connected_gene': 'KRT6A', 'score': 5.14}, {'connected_gene': 'OR7E47P', 'score': 4.87}, {'connected_gene': 'IGFBP6', 'score': 4.66}, {'connected_gene': 'KRT6C', 'score': 4.45}, {'connected_gene': 'KRT80', 'score': 2.94}, {'connected_gene': 'ATG101', 'score': 2.52}, {'connected_gene': 'KRT84', 'score': 1.86}, {'connected_gene': 'NR4A1', 'score': 1.79}, {'connected_gene': 'KRT6B', 'score': 1.23}, {'connected_gene': 'GC12P052156', 'score': 0.44}, {'connected_gene': 'GC12M052157', 'score': 0.44}, {'connected_gene': 'LOC105369771', 'score': 0.29}]