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
ENST00000468480 [[26706252, 26706589], [26789610, 26789729], [26792647, 26792743], [26793593, 26793804], [26795384, 26795467], [26796139, 26796398]] None
ENST00000346166 [[26786904, 26789729], [26792647, 26792743], [26793593, 26793804], [26795384, 26795467], [26795918, 26795979]] [[26787960, 26789729], [26792647, 26792743], [26793593, 26793786]]
ENST00000381588 [[26786904, 26789729], [26792647, 26792743], [26793593, 26793804], [26795384, 26795467], [26796139, 26796791]] [[26787960, 26789729], [26792647, 26792743], [26793593, 26793786]]
ENST00000381570 [[26786911, 26789729], [26792647, 26792743], [26793593, 26793804], [26795384, 26795467], [26795650, 26795840]] [[26787960, 26789729], [26792647, 26792743], [26793593, 26793786]]
ENST00000399762 [[26787922, 26788906], [26789610, 26789729], [26792647, 26792743], [26793593, 26793804], [26795384, 26795467], [26795918, 26795949]] [[26787960, 26788906], [26789610, 26789654]]
ENST00000498039 [[26789275, 26789729], [26792647, 26792725], [26793593, 26793804], [26795384, 26795467], [26795918, 26795947]] None
ENST00000476347 [[26793432, 26793804], [26795384, 26795467], [26795650, 26795828]] None
ENST00000474280 [[26795389, 26795467], [26795971, 26796226]] None
NM_183045 [[26706252, 26706589], [26789610, 26789729], [26792647, 26792743], [26793593, 26793804], [26795384, 26795467], [26796139, 26796508]] [[26706568, 26706589], [26789610, 26789729], [26792647, 26792743], [26793593, 26793786]]
NM_183044 [[26786904, 26789729], [26792647, 26792743], [26793593, 26793804], [26795384, 26795467], [26795650, 26795894]] [[26787960, 26789729], [26792647, 26792743], [26793593, 26793786]]
NM_183043 [[26786904, 26789729], [26792647, 26792743], [26793593, 26793804], [26795384, 26795467], [26795918, 26796028]] [[26787960, 26789729], [26792647, 26792743], [26793593, 26793786]]
NM_005977 [[26786904, 26789729], [26792647, 26792743], [26793593, 26793804], [26795384, 26795467], [26796139, 26796508]] [[26787960, 26789729], [26792647, 26792743], [26793593, 26793786]]
Promoter
Chrom Start End Description
chr13 26795934 26795995 CAGE_peak_2_at_RNF6_5end
chr13 26796392 26796463 CAGE_peak_1_at_RNF6_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr13 GH13I026185 26185454 26188027 1.46 [{'connected_gene': 'RNF6', 'score': 11.73}, {'connected_gene': 'WASF3', 'score': 1.37}, {'connected_gene': 'ATP8A2P3', 'score': 0.29}, {'connected_gene': 'ENSG00000277368', 'score': 0.28}]
chr13 GH13I026503 26503000 26503201 0.63 [{'connected_gene': 'RNF6', 'score': 10.06}, {'connected_gene': 'WASF3', 'score': 0.23}, {'connected_gene': 'GC13P026404', 'score': 0.15}]
chr13 GH13I026497 26497466 26499622 0.74 [{'connected_gene': 'RNF6', 'score': 10.06}, {'connected_gene': 'WASF3', 'score': 4.95}, {'connected_gene': 'GC13P026404', 'score': 0.16}]
chr13 GH13I026441 26441961 26443707 0.58 [{'connected_gene': 'RNF6', 'score': 10.05}, {'connected_gene': 'CDK8', 'score': 8.05}, {'connected_gene': 'GC13P026404', 'score': 0.28}, {'connected_gene': 'WASF3', 'score': 0.14}]
chr13 GH13I026208 26208244 26208813 0.2 [{'connected_gene': 'RNF6', 'score': 5.66}, {'connected_gene': 'ENSG00000277368', 'score': 0.39}, {'connected_gene': 'ATP8A2P3', 'score': 0.23}]
chr13 GH13I026184 26184804 26184973 0.57 [{'connected_gene': 'RNF6', 'score': 11.34}, {'connected_gene': 'ATP8A2P3', 'score': 0.29}, {'connected_gene': 'ENSG00000277368', 'score': 0.28}]
chr13 GH13I026186 26185000 26185200 0.57 [{'connected_gene': 'RNF6', 'score': 11.34}, {'connected_gene': 'ATP8A2P3', 'score': 0.29}, {'connected_gene': 'ENSG00000277368', 'score': 0.28}]
chr13 GH13I026219 26219998 26223638 2.07 [{'connected_gene': 'RNF6', 'score': 557.57}, {'connected_gene': 'ENSG00000277368', 'score': 550.77}, {'connected_gene': 'ATP8A2P3', 'score': 0.2}]
chr13 GH13I026225 26225547 26227188 0.46 [{'connected_gene': 'RNF6', 'score': 7.77}, {'connected_gene': 'ENSG00000271559', 'score': 0.77}]
chr13 GH13I026253 26253401 26256547 2.02 [{'connected_gene': 'CDK8', 'score': 550.77}, {'connected_gene': 'RNF6', 'score': 11.67}, {'connected_gene': 'ENSG00000278413', 'score': 0.15}]
chr13 GH13I026168 26168158 26169251 0.2 [{'connected_gene': 'ATP8A2P3', 'score': 0.39}, {'connected_gene': 'RNF6', 'score': 0.23}, {'connected_gene': 'ENSG00000277368', 'score': 0.23}]