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
ENST00000297354 [[73976774, 73979693], [73982039, 73982216], [73984014, 73984105], [73993253, 73993448], [74005088, 74005507]] [[73979575, 73979693], [73982039, 73982216], [73984014, 73984105], [73993253, 73993448], [74005088, 74005302]]
ENST00000519697 [[73978766, 73979693], [73982039, 73982216], [73984014, 73984105], [73993253, 73993448], [74035741, 74036323]] None
NM_153225 [[73976777, 73979693], [73982039, 73982216], [73984014, 73984105], [73993253, 73993448], [74005088, 74005507]] [[73979575, 73979693], [73982039, 73982216], [73984014, 73984105], [73993253, 73993448], [74005088, 74005302]]
Promoter
Chrom Start End Description
chr8 74005349 74005436 CAGE_peak_1_at_C8orf84_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr8 GH08I073167 73167311 73167511 0.24 [{'connected_gene': 'SBSPON', 'score': 11.76}, {'connected_gene': 'LOC646197', 'score': 0.25}]
chr8 GH08I073202 73202946 73203095 0.38 [{'connected_gene': 'SBSPON', 'score': 9.69}, {'connected_gene': 'LOC646197', 'score': 0.39}]
chr8 GH08I073171 73171046 73171195 0.2 [{'connected_gene': 'SBSPON', 'score': 0.25}, {'connected_gene': 'LOC646197', 'score': 0.25}]
chr8 GH08I073173 73173926 73174962 1.06 [{'connected_gene': 'SBSPON', 'score': 11.7}, {'connected_gene': 'LOC646197', 'score': 0.26}]
chr8 GH08I073135 73135183 73137160 0.64 [{'connected_gene': 'SBSPON', 'score': 7.82}, {'connected_gene': 'LOC646197', 'score': 0.18}]
chr8 GH08I073168 73168257 73169115 0.76 [{'connected_gene': 'SBSPON', 'score': 11.53}, {'connected_gene': 'LOC646197', 'score': 0.25}]
chr8 GH08I073123 73123450 73124730 0.2 [{'connected_gene': 'SBSPON', 'score': 550.77}, {'connected_gene': 'PIR48581', 'score': 550.77}, {'connected_gene': 'LOC646197', 'score': 0.16}]
chr8 GH08I073093 73093000 73093401 1.23 [{'connected_gene': 'SBSPON', 'score': 555.5}, {'connected_gene': 'ENSG00000237061', 'score': 0.44}, {'connected_gene': 'PIR48581', 'score': 0.29}]
chr8 GH08I073106 73106426 73106555 0.31 [{'connected_gene': 'SBSPON', 'score': 0.37}, {'connected_gene': 'PIR48581', 'score': 0.37}, {'connected_gene': 'ENSG00000237061', 'score': 0.34}]
chr8 GH08I073089 73089838 73092092 1.08 [{'connected_gene': 'SBSPON', 'score': 10.01}, {'connected_gene': 'ENSG00000237061', 'score': 0.44}, {'connected_gene': 'PIR48581', 'score': 0.29}]
chr8 GH08I073519 73519646 73521915 1.35 [{'connected_gene': 'RDH10', 'score': 9.97}, {'connected_gene': 'SBSPON', 'score': 1.5}, {'connected_gene': 'ENSG00000254273', 'score': 0.44}, {'connected_gene': 'ENSG00000253383', 'score': 0.2}, {'connected_gene': 'STAU2', 'score': 0.07}]
chr8 GH08I073363 73363933 73365041 1.14 [{'connected_gene': 'LOC105375899', 'score': 6.36}, {'connected_gene': 'RDH10', 'score': 5.61}, {'connected_gene': 'SBSPON', 'score': 1.59}, {'connected_gene': 'ENSG00000253339', 'score': 0.44}]