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
ENST00000379520 [[30369806, 30369928], [30371110, 30371407], [30378715, 30378776], [30379493, 30379658], [30381484, 30383399]] [[30379517, 30379658], [30381484, 30381709]]
ENST00000379519 [[30369806, 30369928], [30371110, 30371407], [30379493, 30379658], [30381484, 30383399]] [[30379517, 30379658], [30381484, 30381709]]
ENST00000261353 [[30369826, 30369928], [30379493, 30379658], [30381484, 30383399]] [[30379517, 30379658], [30381484, 30381709]]
ENST00000490211 [[30369828, 30369928], [30371110, 30371407], [30378680, 30378776], [30379493, 30379653]] None
ENST00000402003 [[30369872, 30369928], [30371110, 30371171], [30379493, 30379658], [30381484, 30383399]] [[30379517, 30379658], [30381484, 30381709]]
ENST00000402708 [[30370381, 30370957], [30378715, 30378776], [30379493, 30379658], [30381484, 30382417]] [[30379517, 30379658], [30381484, 30381709]]
ENST00000482474 [[30370426, 30370831], [30371110, 30371200]] None
ENST00000470120 [[30370817, 30370957], [30379493, 30379658], [30381484, 30381832]] None
ENST00000492439 [[30370822, 30370957], [30371110, 30371407], [30378715, 30378776], [30379493, 30379658], [30381484, 30381613]] None
ENST00000495673 [[30379243, 30379658], [30381484, 30382004]] None
NM_016061 [[30369749, 30369928], [30379493, 30379658], [30381484, 30383399]] [[30379517, 30379658], [30381484, 30381709]]
NM_001127399 [[30369749, 30369928], [30371110, 30371171], [30379493, 30379658], [30381484, 30383399]] [[30379517, 30379658], [30381484, 30381709]]
NM_001127400 [[30369749, 30369928], [30371110, 30371407], [30379493, 30379658], [30381484, 30383399]] [[30379517, 30379658], [30381484, 30381709]]
NM_001127401 [[30369749, 30369928], [30371110, 30371407], [30378715, 30378776], [30379493, 30379658], [30381484, 30383399]] [[30379517, 30379658], [30381484, 30381709]]
Promoter
Chrom Start End Description
chr2 30369807 30369847 CAGE_peak_2_at_YPEL5_5end
chr2 30369859 30369880 CAGE_peak_1_at_YPEL5_5end
chr2 30370245 30370287 CAGE_peak_4_at_YPEL5_5end
chr2 30370406 30370421 CAGE_peak_14_at_YPEL5_5end
chr2 30370714 30370740 CAGE_peak_7_at_YPEL5_5end
chr2 30370914 30370926 CAGE_peak_9_at_YPEL5_5end
chr2 30379457 30379468 CAGE_peak_19_at_YPEL5_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr2 GH02I030221 30221422 30227674 1.47 [{'connected_gene': 'YPEL5', 'score': 6.03}, {'connected_gene': 'LBH', 'score': 5.09}, {'connected_gene': 'ENSG00000231712', 'score': 0.39}]
chr2 GH02I030145 30145075 30150816 2.52 [{'connected_gene': 'YPEL5', 'score': 558.22}, {'connected_gene': 'LOC101929418', 'score': 550.77}, {'connected_gene': 'LBH', 'score': 1.62}, {'connected_gene': 'PIR52638', 'score': 0.44}]
chr2 GH02I030113 30113274 30115927 0.98 [{'connected_gene': 'YPEL5', 'score': 17.1}, {'connected_gene': 'LOC101929418', 'score': 12.36}, {'connected_gene': 'ENSG00000225943', 'score': 0.28}]
chr2 GH02I030168 30168619 30168712 0.22 [{'connected_gene': 'YPEL5', 'score': 4.29}, {'connected_gene': 'PIR52638', 'score': 0.39}, {'connected_gene': 'GC02P030189', 'score': 0.37}]
chr2 GH02I030230 30230316 30241222 2.66 [{'connected_gene': 'LBH', 'score': 551.9}, {'connected_gene': 'SNORA10B', 'score': 11.65}, {'connected_gene': 'YPEL5', 'score': 2.99}, {'connected_gene': 'GC02P030258', 'score': 0.34}]
chr2 GH02I030407 30407332 30414472 1.22 [{'connected_gene': 'LBH', 'score': 18.5}, {'connected_gene': 'SNORA10B', 'score': 10.45}, {'connected_gene': 'LCLAT1', 'score': 7.3}, {'connected_gene': 'LINC01936', 'score': 5.5}, {'connected_gene': 'YPEL5', 'score': 2.58}, {'connected_gene': 'ENSG00000280154', 'score': 0.77}]
chr2 GH02I030332 30332498 30339970 1.5 [{'connected_gene': 'SNORA10B', 'score': 10.64}, {'connected_gene': 'YPEL5', 'score': 7.34}, {'connected_gene': 'LBH', 'score': 4.65}, {'connected_gene': 'LINC01936', 'score': 0.39}, {'connected_gene': 'LOC102723594', 'score': 0.28}]
chr2 GH02I030264 30264184 30268600 1.33 [{'connected_gene': 'SNORA10B', 'score': 10.77}, {'connected_gene': 'LBH', 'score': 10.52}, {'connected_gene': 'YPEL5', 'score': 9.79}, {'connected_gene': 'GC02P030258', 'score': 0.44}, {'connected_gene': 'LOC102723594', 'score': 0.29}]