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
ENST00000406487 [[43568362, 43568753], [43570668, 43570752], [43575851, 43576106], [43579505, 43579784], [43585032, 43585398], [43586657, 43586820]] [[43570708, 43570752], [43575851, 43576106], [43579505, 43579784], [43585032, 43585398], [43586657, 43586721]]
ENST00000329509 [[43569640, 43570042], [43570668, 43570752], [43575851, 43576106], [43579505, 43579559]] [[43570708, 43570752], [43575851, 43576106], [43579505, 43579559]]
ENST00000593482 [[43575922, 43576106], [43576502, 43576781], [43587103, 43587197]] None
ENST00000491995 [[43585938, 43586423], [43586657, 43586820]] None
NM_031246 [[43568361, 43568753], [43570668, 43570752], [43575851, 43576106], [43579505, 43579784], [43585032, 43585398], [43586657, 43586893]] [[43570708, 43570752], [43575851, 43576106], [43579505, 43579784], [43585032, 43585398], [43586657, 43586721]]
Promoter
Chrom Start End Description
chr19 43576049 43576055 CAGE_peak_3_at_PSG2_5end
chr19 43576091 43576105 CAGE_peak_2_at_PSG2_5end
chr19 43586845 43586863 CAGE_peak_1_at_PSG2_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr19 GH19I043077 43077456 43080567 0.72 [{'connected_gene': 'ZNF45', 'score': 16.11}, {'connected_gene': 'ZNF155', 'score': 13.16}, {'connected_gene': 'ZNF526', 'score': 12.78}, {'connected_gene': 'PSG4', 'score': 11.0}, {'connected_gene': 'ZNF284', 'score': 10.45}, {'connected_gene': 'ENSG00000231412', 'score': 6.18}, {'connected_gene': 'PSG2', 'score': 0.77}, {'connected_gene': 'GC19M043036', 'score': 0.28}, {'connected_gene': 'GC19P043035', 'score': 0.26}, {'connected_gene': 'ENSG00000282943', 'score': 0.15}, {'connected_gene': 'PSG5', 'score': 0.14}]
chr19 GH19I043061 43061449 43061678 0.2 [{'connected_gene': 'PSG4', 'score': 5.33}, {'connected_gene': 'GC19M043036', 'score': 0.37}, {'connected_gene': 'PSG2', 'score': 0.34}, {'connected_gene': 'GC19P043035', 'score': 0.31}, {'connected_gene': 'ENSG00000282943', 'score': 0.18}, {'connected_gene': 'PSG5', 'score': 0.13}]
chr19 GH19I043082 43082658 43082717 0.68 [{'connected_gene': 'PSG2', 'score': 550.77}, {'connected_gene': 'PSG4', 'score': 9.7}, {'connected_gene': 'GC19M043036', 'score': 0.28}, {'connected_gene': 'GC19P043035', 'score': 0.25}, {'connected_gene': 'PSG5', 'score': 0.15}, {'connected_gene': 'ENSG00000282943', 'score': 0.14}]
chr19 GH19I043060 43059589 43059738 0.2 [{'connected_gene': 'POU2F2', 'score': 4.27}, {'connected_gene': 'GC19M043036', 'score': 0.37}, {'connected_gene': 'PSG2', 'score': 0.34}, {'connected_gene': 'GC19P043035', 'score': 0.34}, {'connected_gene': 'ENSG00000282943', 'score': 0.18}, {'connected_gene': 'PSG5', 'score': 0.13}]
chr19 GH19I043059 43059829 43061384 0.2 [{'connected_gene': 'ENSG00000231412', 'score': 5.76}, {'connected_gene': 'PSG4', 'score': 5.72}, {'connected_gene': 'GC19M043036', 'score': 0.37}, {'connected_gene': 'PSG2', 'score': 0.34}, {'connected_gene': 'GC19P043035', 'score': 0.31}, {'connected_gene': 'ENSG00000282943', 'score': 0.18}, {'connected_gene': 'PSG5', 'score': 0.13}]