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
ENST00000345003 [[148709127, 148709434], [148711928, 148712064], [148714088, 148714263], [148714528, 148714691], [148727062, 148727189], [148741839, 148742059], [148744238, 148744289], [148744546, 148745419]] [[148709427, 148709434], [148711928, 148712064], [148714088, 148714263], [148714528, 148714691], [148727062, 148727189], [148741839, 148742059], [148744238, 148744289], [148744546, 148744720]]
ENST00000296048 [[148709238, 148709434], [148711928, 148712064], [148714088, 148714263], [148714528, 148714691], [148727062, 148727189], [148741839, 148742059], [148744546, 148745419]] [[148709427, 148709434], [148711928, 148712064], [148714088, 148714263], [148714528, 148714691], [148727062, 148727189], [148741839, 148742059], [148744546, 148744720]]
ENST00000483267 [[148709298, 148709434], [148711928, 148712064], [148714088, 148714263], [148714528, 148714679], [148741839, 148742042]] [[148709427, 148709434], [148711928, 148712064], [148714088, 148714263], [148714528, 148714679], [148741839, 148741952]]
ENST00000478067 [[148709326, 148709434], [148711928, 148712064], [148714088, 148714214], [148714528, 148714634]] None
ENST00000484197 [[148709344, 148709434], [148711928, 148712064], [148714088, 148714263], [148714528, 148714691], [148727062, 148727189], [148744546, 148745418]] [[148709427, 148709434], [148711928, 148712064], [148714088, 148714263], [148714528, 148714691], [148727062, 148727189], [148744546, 148744778]]
ENST00000492285 [[148709354, 148709434], [148710444, 148710559], [148711928, 148712064], [148714088, 148714263], [148714528, 148714679]] [[148712059, 148712064], [148714088, 148714263], [148714528, 148714679]]
ENST00000461191 [[148709358, 148709434], [148711928, 148712064], [148714088, 148714263], [148714528, 148714679], [148727062, 148727189], [148741839, 148742040]] [[148709427, 148709434], [148711928, 148712064], [148714088, 148714263], [148714528, 148714679], [148727062, 148727189], [148741839, 148742040]]
ENST00000473005 [[148710157, 148710559], [148711928, 148712064], [148714088, 148714263]] [[148712059, 148712064], [148714088, 148714263]]
ENST00000465547 [[148711998, 148712047], [148714101, 148714263], [148714528, 148714547]] None
ENST00000497528 [[148714617, 148714691], [148721739, 148721785], [148727062, 148727176]] None
ENST00000488851 [[148718720, 148718970], [148719232, 148719380], [148721739, 148721785], [148725785, 148725890], [148726038, 148726063]] None
ENST00000479119 [[148721740, 148721837], [148727062, 148727189], [148744546, 148745134]] None
ENST00000469873 [[148726667, 148727189], [148741839, 148742021]] None
NM_001184721 [[148709194, 148709434], [148711928, 148712064], [148714088, 148714263], [148714528, 148714691], [148727062, 148727189], [148744546, 148745456]] [[148709427, 148709434], [148711928, 148712064], [148714088, 148714263], [148714528, 148714691], [148727062, 148727189], [148744546, 148744778]]
NM_001184720 [[148709194, 148709434], [148711928, 148712064], [148714088, 148714263], [148714528, 148714691], [148727062, 148727189], [148741839, 148742059], [148744546, 148745456]] [[148709427, 148709434], [148711928, 148712064], [148714088, 148714263], [148714528, 148714691], [148727062, 148727189], [148741839, 148742059], [148744546, 148744720]]
NM_004130 [[148709194, 148709434], [148711928, 148712064], [148714088, 148714263], [148714528, 148714691], [148727062, 148727189], [148741839, 148742059], [148744238, 148744289], [148744546, 148745456]] [[148709427, 148709434], [148711928, 148712064], [148714088, 148714263], [148714528, 148714691], [148727062, 148727189], [148741839, 148742059], [148744238, 148744289], [148744546, 148744720]]
Promoter
Chrom Start End Description
chr3 148709279 148709301 CAGE_peak_2_at_GYG1_5end
chr3 148709310 148709337 CAGE_peak_1_at_GYG1_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr3 GH03I149162 149162185 149162283 0.2 [{'connected_gene': 'HPS3', 'score': 12.17}, {'connected_gene': 'UBQLN4P1', 'score': 10.71}, {'connected_gene': 'GYG1', 'score': 10.71}, {'connected_gene': 'GC03M149173', 'score': 0.39}]
chr3 GH03I149156 149156534 149158495 0.2 [{'connected_gene': 'HPS3', 'score': 16.67}, {'connected_gene': 'CP', 'score': 11.42}, {'connected_gene': 'UBQLN4P1', 'score': 10.72}, {'connected_gene': 'GYG1', 'score': 10.72}, {'connected_gene': 'HLTF', 'score': 9.14}, {'connected_gene': 'GC03M149173', 'score': 0.37}]
chr3 GH03I149149 149149744 149150987 0.2 [{'connected_gene': 'HLTF', 'score': 12.14}, {'connected_gene': 'HPS3', 'score': 5.21}, {'connected_gene': 'GYG1', 'score': 4.78}, {'connected_gene': 'GC03M149173', 'score': 0.34}]
chr3 GH03I148998 148998270 149000557 0.96 [{'connected_gene': 'HLTF', 'score': 11.11}, {'connected_gene': 'GYG1', 'score': 0.44}, {'connected_gene': 'HLTF-AS1', 'score': 0.17}]
chr3 GH03I149008 149008904 149012442 0.95 [{'connected_gene': 'HLTF', 'score': 16.63}, {'connected_gene': 'GYG1', 'score': 10.6}, {'connected_gene': 'HLTF-AS1', 'score': 0.18}]
chr3 GH03I149085 149085006 149087191 2.08 [{'connected_gene': 'HLTF', 'score': 567.67}, {'connected_gene': 'HLTF-AS1', 'score': 550.77}, {'connected_gene': 'HPS3', 'score': 10.54}, {'connected_gene': 'GYG1', 'score': 0.16}]
chr3 GH03I149144 149144663 149148185 1.09 [{'connected_gene': 'HLTF', 'score': 18.68}, {'connected_gene': 'HLTF-AS1', 'score': 10.55}, {'connected_gene': 'GYG1', 'score': 6.02}, {'connected_gene': 'HPS3', 'score': 4.77}, {'connected_gene': 'GC03M149173', 'score': 0.31}]
chr3 GH03I149042 149042421 149044944 0.74 [{'connected_gene': 'HLTF', 'score': 28.67}, {'connected_gene': 'HLTF-AS1', 'score': 11.46}, {'connected_gene': 'GYG1', 'score': 11.45}, {'connected_gene': 'UBQLN4P1', 'score': 11.44}]
chr3 GH03I148990 148990320 148993379 2.16 [{'connected_gene': 'GYG1', 'score': 559.91}, {'connected_gene': 'HLTF', 'score': 15.0}, {'connected_gene': 'HLTF-AS1', 'score': 0.16}]
chr3 GH03I149015 149015289 149022244 1.13 [{'connected_gene': 'GYG1', 'score': 22.67}, {'connected_gene': 'UBQLN4P1', 'score': 12.53}, {'connected_gene': 'HLTF', 'score': 12.31}, {'connected_gene': 'HLTF-AS1', 'score': 0.2}]
chr3 GH03I149013 149013973 149014463 0.4 [{'connected_gene': 'GYG1', 'score': 12.58}, {'connected_gene': 'UBQLN4P1', 'score': 12.55}, {'connected_gene': 'HLTF-AS1', 'score': 0.19}]
chr3 GH03I149004 149004601 149005001 0.58 [{'connected_gene': 'GYG1', 'score': 0.39}, {'connected_gene': 'HLTF-AS1', 'score': 0.18}]
chr3 GH03I149001 149001331 149002079 0.2 [{'connected_gene': 'GYG1', 'score': 10.57}, {'connected_gene': 'HLTF-AS1', 'score': 0.18}]
chr3 GH03I148987 148987401 148987800 0.7 [{'connected_gene': 'UBQLN4P1', 'score': 550.77}, {'connected_gene': 'GC03M148985', 'score': 550.77}, {'connected_gene': 'GYG1', 'score': 5.78}]
chr3 GH03I149095 149095255 149096155 0.86 [{'connected_gene': 'ENSG00000201031', 'score': 550.77}, {'connected_gene': 'GC03M149095', 'score': 550.77}, {'connected_gene': 'HLTF', 'score': 10.79}, {'connected_gene': 'GYG1', 'score': 6.26}, {'connected_gene': 'MED28P2', 'score': 0.77}, {'connected_gene': 'HLTF-AS1', 'score': 0.44}]