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
ENST00000497685 [[118892363, 118892485], [118906621, 118906822], [118909091, 118909166], [118909828, 118909951], [118913065, 118913245], [118917903, 118917987], [118922763, 118922959]] [[118906792, 118906822], [118909091, 118909166], [118909828, 118909951], [118913065, 118913245], [118917903, 118917987], [118922763, 118922814]]
ENST00000264234 [[118892364, 118892485], [118905560, 118905657], [118906621, 118906822], [118909091, 118909166], [118909828, 118909951], [118913065, 118913245], [118917903, 118917987], [118922763, 118924000]] [[118905588, 118905657], [118906621, 118906822], [118909091, 118909166], [118909828, 118909951], [118913065, 118913245], [118917903, 118917987], [118922763, 118922814]]
ENST00000479520 [[118892446, 118892485], [118894844, 118894956], [118905560, 118905657], [118906621, 118906822], [118909091, 118909166], [118909828, 118909951], [118913065, 118913105]] [[118905588, 118905657], [118906621, 118906822], [118909091, 118909166], [118909828, 118909951], [118913065, 118913105]]
ENST00000494855 [[118892446, 118892485], [118905525, 118905657], [118906621, 118906822], [118909091, 118909166], [118909828, 118909951], [118913065, 118913165]] [[118905588, 118905657], [118906621, 118906822], [118909091, 118909166], [118909828, 118909951], [118913065, 118913165]]
ENST00000460625 [[118905584, 118905657], [118906621, 118906822], [118909091, 118909166], [118909852, 118909951], [118913065, 118913245], [118917903, 118917987], [118922763, 118923988]] [[118905588, 118905657], [118906621, 118906822], [118909091, 118909166], [118909852, 118909951], [118913065, 118913245], [118917903, 118917987], [118922763, 118922814]]
NM_006952 [[118892424, 118892485], [118905560, 118905657], [118906621, 118906822], [118909091, 118909166], [118909828, 118909951], [118913065, 118913245], [118917903, 118917987], [118922763, 118924000]] [[118905588, 118905657], [118906621, 118906822], [118909091, 118909166], [118909828, 118909951], [118913065, 118913245], [118917903, 118917987], [118922763, 118922814]]
Promoter
Chrom Start End Description
chr3 118892362 118892373 CAGE_peak_2_at_UPK1B_5end
chr3 118892394 118892403 CAGE_peak_3_at_UPK1B_5end
chr3 118892411 118892453 CAGE_peak_1_at_UPK1B_5end
chr3 118905564 118905595 CAGE_peak_4_at_UPK1B_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr3 GH03I119184 119184272 119185915 0.82 [{'connected_gene': 'B4GALT4', 'score': 8.02}, {'connected_gene': 'UPK1B', 'score': 0.39}, {'connected_gene': 'ENSG00000251012', 'score': 0.28}, {'connected_gene': 'GC03M119181', 'score': 0.26}, {'connected_gene': 'B4GALT4-AS1', 'score': 0.26}]
chr3 GH03I119181 119181954 119182115 0.73 [{'connected_gene': 'B4GALT4', 'score': 3.25}, {'connected_gene': 'UPK1B', 'score': 3.24}, {'connected_gene': 'ENSG00000251012', 'score': 0.29}, {'connected_gene': 'B4GALT4-AS1', 'score': 0.26}, {'connected_gene': 'GC03M119181', 'score': 0.25}]
chr3 GH03I119218 119218698 119220068 0.2 [{'connected_gene': 'B4GALT4', 'score': 6.41}, {'connected_gene': 'GC03M119181', 'score': 0.44}, {'connected_gene': 'B4GALT4-AS1', 'score': 0.44}, {'connected_gene': 'UPK1B', 'score': 0.25}]
chr3 GH03I119175 119175602 119177617 0.54 [{'connected_gene': 'UPK1B', 'score': 8.74}, {'connected_gene': 'ENSG00000251012', 'score': 0.31}, {'connected_gene': 'B4GALT4-AS1', 'score': 0.25}]
chr3 GH03I119173 119173494 119173623 1.07 [{'connected_gene': 'UPK1B', 'score': 550.77}, {'connected_gene': 'ENSG00000251012', 'score': 0.31}, {'connected_gene': 'B4GALT4-AS1', 'score': 0.23}]
chr3 GH03I119206 119206461 119207663 0.58 [{'connected_gene': 'UPK1B', 'score': 11.11}, {'connected_gene': 'B4GALT4-AS1', 'score': 0.37}, {'connected_gene': 'GC03M119181', 'score': 0.34}]
chr3 GH03I119210 119210194 119212558 0.75 [{'connected_gene': 'IGSF11', 'score': 18.5}, {'connected_gene': 'B4GALT4', 'score': 12.85}, {'connected_gene': 'UPK1B', 'score': 11.09}, {'connected_gene': 'GC03M119181', 'score': 0.37}, {'connected_gene': 'B4GALT4-AS1', 'score': 0.37}]
chr3 GH03I119194 119194033 119195446 0.31 [{'connected_gene': 'IGSF11', 'score': 14.96}, {'connected_gene': 'B4GALT4-AS1', 'score': 11.1}, {'connected_gene': 'B4GALT4', 'score': 6.25}, {'connected_gene': 'UPK1B', 'score': 0.34}, {'connected_gene': 'GC03M119181', 'score': 0.29}]
chr3 GH03I119146 119146010 119146069 0.61 [{'connected_gene': 'ENSG00000251012', 'score': 550.77}, {'connected_gene': 'IGSF11', 'score': 550.77}, {'connected_gene': 'C3orf30', 'score': 550.77}, {'connected_gene': 'UPK1B', 'score': 9.21}, {'connected_gene': 'GC03M119012', 'score': 0.13}]
chr3 GH03I119220 119220334 119220483 0.2 [{'connected_gene': 'GC03M119181', 'score': 0.44}, {'connected_gene': 'B4GALT4-AS1', 'score': 0.44}, {'connected_gene': 'B4GALT4', 'score': 0.34}, {'connected_gene': 'UPK1B', 'score': 0.25}]