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
ENST00000481169 [[148880196, 148880662], [148883732, 148883837], [148895626, 148895766], [148896201, 148896418], [148897342, 148897449], [148899791, 148899920], [148901252, 148901392], [148903025, 148903233], [148905838, 148905989], [148916153, 148916365], [148917498, 148917651], [148919888, 148920028], [148923954, 148924126], [148925149, 148925404], [148926997, 148927171], [148927953, 148928166], [148930237, 148930485], [148939433, 148939614]] [[148883801, 148883837], [148895626, 148895766], [148896201, 148896418], [148897342, 148897449], [148899791, 148899920], [148901252, 148901392], [148903025, 148903233], [148905838, 148905989], [148916153, 148916365], [148917498, 148917651], [148919888, 148920028], [148923954, 148924126], [148925149, 148925404], [148926997, 148927171], [148927953, 148928166], [148930237, 148930485], [148939433, 148939579]]
ENST00000460674 [[148890285, 148891517], [148894036, 148894138], [148895626, 148895766], [148896201, 148896418], [148897342, 148897920]] None
ENST00000264613 [[148890285, 148891517], [148894036, 148894199], [148895626, 148895766], [148896201, 148896418], [148897342, 148897449], [148899791, 148899920], [148901252, 148901392], [148903025, 148903233], [148904306, 148904519], [148905838, 148905989], [148916153, 148916365], [148917498, 148917651], [148919888, 148920028], [148923954, 148924126], [148925149, 148925404], [148926997, 148927171], [148927953, 148928166], [148930237, 148930485], [148939433, 148939842]] [[148891500, 148891517], [148894036, 148894199], [148895626, 148895766], [148896201, 148896418], [148897342, 148897449], [148899791, 148899920], [148901252, 148901392], [148903025, 148903233], [148904306, 148904519], [148905838, 148905989], [148916153, 148916365], [148917498, 148917651], [148919888, 148920028], [148923954, 148924126], [148925149, 148925404], [148926997, 148927171], [148927953, 148928166], [148930237, 148930485], [148939433, 148939579]]
ENST00000494544 [[148891253, 148891517], [148894024, 148894199], [148895626, 148895766], [148896201, 148896418], [148897342, 148897449], [148899791, 148899920], [148901252, 148901392], [148903025, 148903233], [148904306, 148904519], [148905838, 148905989], [148916153, 148916365], [148917498, 148917651], [148919888, 148920028], [148923954, 148924126], [148925149, 148925404], [148926997, 148927127]] [[148891500, 148891517], [148894024, 148894199], [148895626, 148895766], [148896201, 148896418], [148897342, 148897449], [148899791, 148899920], [148901252, 148901392], [148903025, 148903233], [148904306, 148904519], [148905838, 148905989], [148916153, 148916365], [148917498, 148917651], [148919888, 148920028], [148923954, 148924126], [148925149, 148925404], [148926997, 148927127]]
ENST00000490639 [[148895571, 148895766], [148896201, 148896418], [148897342, 148897449], [148899791, 148899920], [148901252, 148901392], [148903025, 148903233], [148904306, 148904519], [148905838, 148905989], [148916153, 148916365], [148917498, 148917651], [148919888, 148920028], [148923954, 148924126], [148925149, 148925404], [148926997, 148927171], [148927953, 148928166], [148930237, 148930485], [148939433, 148939611]] None
ENST00000479771 [[148880203, 148880662], [148883732, 148883837], [148894036, 148894199], [148895626, 148895766], [148896201, 148896418], [148897342, 148897408]] [[148883745, 148883837], [148894036, 148894199], [148895626, 148895766], [148896201, 148896418], [148897342, 148897408]]
ENST00000474204 [[148891270, 148891517], [148894036, 148894501]] None
ENST00000473296 [[148893771, 148894199], [148895626, 148895694]] None
ENST00000463556 [[148894149, 148894199], [148895626, 148895766], [148896201, 148896418], [148897342, 148897525]] None
ENST00000497902 [[148902949, 148903233], [148904306, 148904519], [148905838, 148905883]] None
ENST00000462336 [[148903035, 148903191], [148904306, 148904519], [148905838, 148905989], [148916153, 148916240]] None
ENST00000489736 [[148903852, 148904519], [148905838, 148905989], [148916153, 148916365], [148917498, 148917651], [148919888, 148920028], [148923954, 148924126], [148925149, 148925410]] None
ENST00000497797 [[148905705, 148905989], [148916153, 148916365], [148917498, 148917608]] None
ENST00000471356 [[148905850, 148905989], [148916153, 148916365], [148917498, 148917818]] None
ENST00000455472 [[148928144, 148928166], [148930237, 148930485], [148935652, 148935772], [148939433, 148939614]] [[148928144, 148928166], [148930237, 148930485], [148935652, 148935772], [148939433, 148939579]]
NR_046371 [[148880196, 148880662], [148883732, 148883837], [148895626, 148895766], [148896201, 148896418], [148897342, 148897449], [148899791, 148899920], [148901252, 148901392], [148903025, 148903233], [148905838, 148905989], [148916153, 148916365], [148917498, 148917651], [148919888, 148920028], [148923954, 148924126], [148925149, 148925404], [148926997, 148927171], [148927953, 148928166], [148930237, 148930485], [148939433, 148939832]] None
NM_000096 [[148890285, 148891517], [148894036, 148894199], [148895626, 148895766], [148896201, 148896418], [148897342, 148897449], [148899791, 148899920], [148901252, 148901392], [148903025, 148903233], [148904306, 148904519], [148905838, 148905989], [148916153, 148916365], [148917498, 148917651], [148919888, 148920028], [148923954, 148924126], [148925149, 148925404], [148926997, 148927171], [148927953, 148928166], [148930237, 148930485], [148939433, 148939832]] [[148891500, 148891517], [148894036, 148894199], [148895626, 148895766], [148896201, 148896418], [148897342, 148897449], [148899791, 148899920], [148901252, 148901392], [148903025, 148903233], [148904306, 148904519], [148905838, 148905989], [148916153, 148916365], [148917498, 148917651], [148919888, 148920028], [148923954, 148924126], [148925149, 148925404], [148926997, 148927171], [148927953, 148928166], [148930237, 148930485], [148939433, 148939579]]
Promoter
Chrom Start End Description
chr3 148906273 148906278 CAGE_peak_5_at_CP_5end
chr3 148925425 148925449 CAGE_peak_10_at_CP_5end
chr3 148939598 148939622 CAGE_peak_1_at_CP_5end
chr3 148939639 148939648 CAGE_peak_3_at_CP_5end
chr3 148939777 148939800 CAGE_peak_2_at_CP_5end
chr3 148939835 148939836 CAGE_peak_4_at_CP_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
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 GH03I149476 149476400 149476833 1.05 [{'connected_gene': 'TM4SF4', 'score': 24.64}, {'connected_gene': 'CP', 'score': 2.92}, {'connected_gene': 'LOC100421817', 'score': 0.37}]
chr3 GH03I149213 149213370 149226368 1.72 [{'connected_gene': 'CP', 'score': 569.09}, {'connected_gene': 'HPS3', 'score': 17.36}, {'connected_gene': 'HLTF', 'score': 4.45}, {'connected_gene': 'LOC101927942', 'score': 0.77}, {'connected_gene': 'GC03M149178', 'score': 0.26}]
chr3 GH03I149196 149196028 149199138 0.99 [{'connected_gene': 'CP', 'score': 11.96}, {'connected_gene': 'HPS3', 'score': 5.24}, {'connected_gene': 'TMEM183B', 'score': 4.57}, {'connected_gene': 'GC03M149178', 'score': 0.37}]
chr3 GH03I149242 149242939 149249186 1.11 [{'connected_gene': 'CP', 'score': 29.02}, {'connected_gene': 'HPS3', 'score': 16.49}, {'connected_gene': 'LOC101927942', 'score': 0.34}, {'connected_gene': 'ENSG00000244468', 'score': 0.28}, {'connected_gene': 'CPHL1P', 'score': 0.25}]
chr3 GH03I149154 149154539 149155379 0.2 [{'connected_gene': 'CP', 'score': 11.42}, {'connected_gene': 'HLTF', 'score': 6.73}, {'connected_gene': 'HPS3', 'score': 6.05}, {'connected_gene': 'GC03M149173', 'score': 0.37}]
chr3 GH03I149194 149194466 149195713 0.2 [{'connected_gene': 'CP', 'score': 11.94}, {'connected_gene': 'HLTF', 'score': 5.07}, {'connected_gene': 'GC03M149178', 'score': 0.37}]
chr3 GH03I149181 149181689 149181738 0.22 [{'connected_gene': 'CP', 'score': 21.39}, {'connected_gene': 'AGTR1', 'score': 3.71}, {'connected_gene': 'TM4SF4', 'score': 2.69}, {'connected_gene': 'GC03M149178', 'score': 0.77}]
chr3 GH03I149203 149203894 149204043 0.64 [{'connected_gene': 'CP', 'score': 0.37}, {'connected_gene': 'GC03M149178', 'score': 0.31}]
chr3 GH03I149192 149192613 149194157 0.2 [{'connected_gene': 'CP', 'score': 11.94}, {'connected_gene': 'GC03M149178', 'score': 0.39}]
chr3 GH03I149190 149190788 149192017 0.2 [{'connected_gene': 'CP', 'score': 12.11}, {'connected_gene': 'GC03M149178', 'score': 0.39}]
chr3 GH03I149199 149199554 149199703 0.74 [{'connected_gene': 'CP', 'score': 11.96}, {'connected_gene': 'GC03M149178', 'score': 0.34}]
chr3 GH03I149293 149293346 149294836 0.2 [{'connected_gene': 'TM4SF18', 'score': 11.66}, {'connected_gene': 'CP', 'score': 10.46}, {'connected_gene': 'CPHL1P', 'score': 0.77}, {'connected_gene': 'ENSG00000244468', 'score': 0.44}]
chr3 GH03I149297 149297858 149302133 1.37 [{'connected_gene': 'TM4SF18', 'score': 11.69}, {'connected_gene': 'TM4SF1-AS1', 'score': 11.08}, {'connected_gene': 'TM4SF1', 'score': 11.08}, {'connected_gene': 'CP', 'score': 10.45}, {'connected_gene': 'CPHL1P', 'score': 0.44}, {'connected_gene': 'ENSG00000244468', 'score': 0.37}]
chr3 GH03I149178 149178491 149181369 1.2 [{'connected_gene': 'GC03M149178', 'score': 550.77}, {'connected_gene': 'HLTF', 'score': 4.58}, {'connected_gene': 'CP', 'score': 0.26}]
chr3 GH03I149188 149188348 149188926 0.31 [{'connected_gene': 'GC03M149178', 'score': 0.39}, {'connected_gene': 'CP', 'score': 0.29}]

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