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
ENST00000370558 [[87170258, 87170654], [87181406, 87181548], [87185189, 87185318], [87188222, 87188356], [87189995, 87190088], [87200284, 87200374], [87200761, 87200862], [87207890, 87208119], [87208810, 87213867]] [[87170582, 87170654], [87181406, 87181548], [87185189, 87185318], [87188222, 87188356], [87189995, 87190088], [87200284, 87200374], [87200761, 87200862], [87207890, 87208119], [87208810, 87208918]]
ENST00000535010 [[87170299, 87170654], [87185189, 87185318], [87188222, 87188356], [87189995, 87190088], [87200284, 87200374], [87200761, 87200862], [87207890, 87208119], [87208810, 87209071]] [[87185275, 87185318], [87188222, 87188356], [87189995, 87190088], [87200284, 87200374], [87200761, 87200862], [87207890, 87208119], [87208810, 87208918]]
ENST00000482504 [[87170577, 87170654], [87181406, 87181548], [87185189, 87185318], [87188222, 87188356], [87189995, 87190088], [87194085, 87194124], [87195770, 87195794], [87200284, 87200374], [87200761, 87200862], [87207890, 87208119], [87208810, 87208951]] [[87170582, 87170654], [87181406, 87181548], [87185189, 87185318], [87188222, 87188356], [87189995, 87190088], [87194085, 87194124], [87195770, 87195794], [87200284, 87200374], [87200761, 87200862], [87207890, 87208119], [87208810, 87208918]]
ENST00000602603 [[87199926, 87200374], [87200761, 87200862], [87204343, 87204378]] None
NM_001206653 [[87170252, 87170654], [87185189, 87185318], [87188222, 87188356], [87189995, 87190088], [87200284, 87200374], [87200761, 87200862], [87207890, 87208119], [87208810, 87213867]] [[87185275, 87185318], [87188222, 87188356], [87189995, 87190088], [87200284, 87200374], [87200761, 87200862], [87207890, 87208119], [87208810, 87208918]]
NM_016009 [[87170252, 87170654], [87181406, 87181548], [87185189, 87185318], [87188222, 87188356], [87189995, 87190088], [87200284, 87200374], [87200761, 87200862], [87207890, 87208119], [87208810, 87213867]] [[87170582, 87170654], [87181406, 87181548], [87185189, 87185318], [87188222, 87188356], [87189995, 87190088], [87200284, 87200374], [87200761, 87200862], [87207890, 87208119], [87208810, 87208918]]
NM_001206652 [[87170252, 87170654], [87181406, 87181548], [87185189, 87185318], [87188222, 87188356], [87189995, 87190088], [87194085, 87194124], [87195770, 87195794], [87200284, 87200374], [87200761, 87200862], [87207890, 87208119], [87208810, 87213867]] [[87170582, 87170654], [87181406, 87181548], [87185189, 87185318], [87188222, 87188356], [87189995, 87190088], [87194085, 87194124], [87195770, 87195794], [87200284, 87200374], [87200761, 87200862], [87207890, 87208119], [87208810, 87208918]]
NM_001206651 [[87170252, 87170654], [87181406, 87181548], [87185189, 87185318], [87188222, 87188356], [87189995, 87190088], [87194085, 87194172], [87200284, 87200374], [87200761, 87200862], [87207890, 87208119], [87208810, 87213867]] [[87170582, 87170654], [87181406, 87181548], [87185189, 87185318], [87188222, 87188356], [87189995, 87190088], [87194085, 87194172], [87200284, 87200374], [87200761, 87200862], [87207890, 87208119], [87208810, 87208918]]
Promoter
Chrom Start End Description
chr1 87170192 87170195 CAGE_peak_11_at_SH3GLB1_5end
chr1 87170218 87170234 CAGE_peak_6_at_SH3GLB1_5end
chr1 87170247 87170276 CAGE_peak_3_at_SH3GLB1_5end
chr1 87170277 87170315 CAGE_peak_2_at_SH3GLB1_5end
chr1 87170348 87170368 CAGE_peak_10_at_SH3GLB1_5end
chr1 87170390 87170432 CAGE_peak_4_at_SH3GLB1_5end
chr1 87170437 87170446 CAGE_peak_8_at_SH3GLB1_5end
chr1 87170448 87170539 CAGE_peak_1_at_SH3GLB1_5end
chr1 87170541 87170551 CAGE_peak_5_at_SH3GLB1_5end
chr1 87170553 87170562 CAGE_peak_7_at_SH3GLB1_5end
chr1 87170577 87170582 CAGE_peak_9_at_SH3GLB1_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
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 GH01I086841 86841134 86841347 0.26 [{'connected_gene': 'SH3GLB1', 'score': 1.79}, {'connected_gene': 'LOC105378831', 'score': 0.37}, {'connected_gene': 'GC01M086864', 'score': 0.34}, {'connected_gene': 'GC01M086865', 'score': 0.34}, {'connected_gene': 'GC01M086809', 'score': 0.2}]
chr1 GH01I086787 86787696 86789974 1.58 [{'connected_gene': 'SH3GLB1', 'score': 8.36}, {'connected_gene': 'LOC105378828', 'score': 6.12}, {'connected_gene': 'RPL17P5', 'score': 0.77}, {'connected_gene': 'LOC105378831', 'score': 0.28}]
chr1 GH01I086339 86339478 86339652 0.35 [{'connected_gene': 'SH3GLB1', 'score': 10.23}, {'connected_gene': 'LOC105378825', 'score': 0.44}, {'connected_gene': 'MIR7856', 'score': 0.37}]
chr1 GH01I086709 86709001 86709238 0.72 [{'connected_gene': 'SH3GLB1', 'score': 5.64}, {'connected_gene': 'GC01P086705', 'score': 0.77}, {'connected_gene': 'GC01P086761', 'score': 0.23}]
chr1 GH01I086792 86792063 86795425 1.72 [{'connected_gene': 'LOC105378828', 'score': 13.32}, {'connected_gene': 'SH3GLB1', 'score': 5.33}, {'connected_gene': 'RPL17P5', 'score': 0.44}, {'connected_gene': 'LOC105378831', 'score': 0.29}]
chr1 GH01I086772 86772838 86776407 1.82 [{'connected_gene': 'LOC105378828', 'score': 12.88}, {'connected_gene': 'SH3GLB1', 'score': 8.05}, {'connected_gene': 'RPL17P5', 'score': 0.39}, {'connected_gene': 'GC01P086761', 'score': 0.39}]
chr1 GH01I086845 86845838 86846895 1.2 [{'connected_gene': 'LOC105378828', 'score': 5.97}, {'connected_gene': 'SH3GLB1', 'score': 1.7}, {'connected_gene': 'GC01M086864', 'score': 0.37}, {'connected_gene': 'GC01M086865', 'score': 0.37}, {'connected_gene': 'LOC105378831', 'score': 0.34}, {'connected_gene': 'GC01M086809', 'score': 0.21}]
chr1 GH01I086725 86725421 86727703 0.31 [{'connected_gene': 'LOC105378828', 'score': 6.05}, {'connected_gene': 'SH3GLB1', 'score': 4.82}, {'connected_gene': 'GC01P086705', 'score': 0.34}, {'connected_gene': 'GC01P086761', 'score': 0.29}]
chr1 GH01I086703 86703167 86707029 2.52 [{'connected_gene': 'LOC105378828', 'score': 563.34}, {'connected_gene': 'SH3GLB1', 'score': 557.88}, {'connected_gene': 'GC01P086705', 'score': 550.77}]
chr1 GH01I086731 86731712 86737902 0.66 [{'connected_gene': 'LOC105378828', 'score': 13.0}, {'connected_gene': 'GC01P086705', 'score': 0.31}, {'connected_gene': 'GC01P086761', 'score': 0.31}, {'connected_gene': 'SH3GLB1', 'score': 0.29}]
chr1 GH01I086746 86746770 86750647 0.2 [{'connected_gene': 'LOC105378828', 'score': 11.86}, {'connected_gene': 'GC01P086761', 'score': 0.39}, {'connected_gene': 'GC01P086705', 'score': 0.26}, {'connected_gene': 'SH3GLB1', 'score': 0.26}]
chr1 GH01I086713 86713201 86714401 0.51 [{'connected_gene': 'GC01P086705', 'score': 0.44}, {'connected_gene': 'SH3GLB1', 'score': 0.44}, {'connected_gene': 'GC01P086761', 'score': 0.25}]