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
ENST00000309765 [[44283377, 44283891], [44284344, 44286763], [44296459, 44296521], [44297642, 44297770], [44303910, 44303975], [44308488, 44308628], [44310707, 44310793], [44312176, 44312302], [44323459, 44323523], [44328880, 44329032], [44329238, 44329331], [44332262, 44332378], [44345506, 44345573], [44346638, 44346813], [44347817, 44347918], [44351316, 44351482], [44362518, 44362683], [44364583, 44364787], [44369741, 44369925], [44373283, 44373590]] [[44283545, 44283891], [44284344, 44286763], [44296459, 44296521], [44297642, 44297770], [44303910, 44303975], [44308488, 44308628], [44310707, 44310793], [44312176, 44312302], [44323459, 44323523], [44328880, 44329032], [44329238, 44329331], [44332262, 44332378], [44345506, 44345573], [44346638, 44346813], [44347817, 44347918], [44351316, 44351482], [44362518, 44362683], [44364583, 44364787], [44369741, 44369925], [44373283, 44373503]]
NM_001145030 [[44283377, 44283891], [44284344, 44286763], [44296459, 44296521], [44297642, 44297770], [44303910, 44303975], [44308488, 44308628], [44310707, 44310793], [44312176, 44312302], [44323459, 44323523], [44328880, 44329032], [44329238, 44329331], [44332262, 44332378], [44345506, 44345573], [44346638, 44346813], [44347817, 44347918], [44351316, 44351482], [44362518, 44362683], [44364583, 44364787], [44369741, 44369925], [44373283, 44373590]] [[44283545, 44283891], [44284344, 44286763], [44296459, 44296521], [44297642, 44297770], [44303910, 44303975], [44308488, 44308628], [44310707, 44310793], [44312176, 44312302], [44323459, 44323523], [44328880, 44329032], [44329238, 44329331], [44332262, 44332378], [44345506, 44345573], [44346638, 44346813], [44347817, 44347918], [44351316, 44351482], [44362518, 44362683], [44364583, 44364787], [44369741, 44369925], [44373283, 44373503]]

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr3 GH03I044241 44241856 44241915 0.61 [{'connected_gene': 'TOPAZ1', 'score': 550.77}, {'connected_gene': 'PIR53341', 'score': 0.13}]
chr3 GH03I044233 44233079 44238725 1.17 [{'connected_gene': 'ZNF660', 'score': 39.63}, {'connected_gene': 'ZNF502', 'score': 20.16}, {'connected_gene': 'ZNF197', 'score': 19.44}, {'connected_gene': 'ZKSCAN7', 'score': 12.54}, {'connected_gene': 'ZNF445', 'score': 11.38}, {'connected_gene': 'ZNF852', 'score': 10.59}, {'connected_gene': 'RNU6-367P', 'score': 9.97}, {'connected_gene': 'ZNF35', 'score': 9.79}, {'connected_gene': 'SNRK-AS1', 'score': 9.72}, {'connected_gene': 'MIR138-1', 'score': 9.49}, {'connected_gene': 'TCAIM', 'score': 7.76}, {'connected_gene': 'ENSG00000271941', 'score': 5.94}, {'connected_gene': 'TOPAZ1', 'score': 0.44}, {'connected_gene': 'PIR53341', 'score': 0.13}]
chr3 GH03I044222 44222159 44224576 0.6 [{'connected_gene': 'ZNF660', 'score': 31.71}, {'connected_gene': 'RNU6-367P', 'score': 10.5}, {'connected_gene': 'ZNF197', 'score': 8.06}, {'connected_gene': 'ABHD5', 'score': 6.2}, {'connected_gene': 'TOPAZ1', 'score': 0.37}, {'connected_gene': 'PIR53341', 'score': 0.15}]
chr3 GH03I044196 44196666 44201021 1.13 [{'connected_gene': 'ZNF660', 'score': 25.21}, {'connected_gene': 'ZNF197', 'score': 7.8}, {'connected_gene': 'KIAA1143', 'score': 7.47}, {'connected_gene': 'ENSG00000271941', 'score': 5.36}, {'connected_gene': 'TOPAZ1', 'score': 0.26}, {'connected_gene': 'PIR53341', 'score': 0.18}]
chr3 GH03I044202 44202925 44208648 0.69 [{'connected_gene': 'ZNF660', 'score': 30.87}, {'connected_gene': 'ZNF197', 'score': 7.58}, {'connected_gene': 'ENSG00000271941', 'score': 6.34}, {'connected_gene': 'TCAIM', 'score': 4.17}, {'connected_gene': 'TOPAZ1', 'score': 0.28}, {'connected_gene': 'PIR53341', 'score': 0.17}]
chr3 GH03I044232 44232509 44232658 0.2 [{'connected_gene': 'RNU6-367P', 'score': 9.97}, {'connected_gene': 'MIR138-1', 'score': 9.49}, {'connected_gene': 'TOPAZ1', 'score': 0.44}, {'connected_gene': 'PIR53341', 'score': 0.14}]
chr3 GH03I044099 44099357 44101275 0.2 [{'connected_gene': 'RNU6-367P', 'score': 11.38}, {'connected_gene': 'TOPAZ1', 'score': 9.23}, {'connected_gene': 'ZNF502', 'score': 4.97}, {'connected_gene': 'KIAA1143', 'score': 4.09}, {'connected_gene': 'GC03P044115', 'score': 0.39}, {'connected_gene': 'GC03M044082', 'score': 0.37}]
chr3 GH03I044201 44201379 44202594 0.4 [{'connected_gene': 'ZNF197', 'score': 7.4}, {'connected_gene': 'ZNF660', 'score': 7.0}, {'connected_gene': 'TCAIM', 'score': 6.78}, {'connected_gene': 'TOPAZ1', 'score': 0.28}, {'connected_gene': 'PIR53341', 'score': 0.18}]
chr3 GH03I043869 43869281 43874312 1.28 [{'connected_gene': 'ENSG00000261786', 'score': 21.02}, {'connected_gene': 'ZNF852', 'score': 11.86}, {'connected_gene': 'ZNF662', 'score': 11.35}, {'connected_gene': 'ZNF502', 'score': 10.89}, {'connected_gene': 'RNU6-367P', 'score': 10.69}, {'connected_gene': 'SNRK', 'score': 10.31}, {'connected_gene': 'MIR138-1', 'score': 10.29}, {'connected_gene': 'TOPAZ1', 'score': 9.7}, {'connected_gene': 'ANO10', 'score': 1.47}, {'connected_gene': 'GC03P043926', 'score': 0.23}, {'connected_gene': 'ENSG00000235886', 'score': 0.16}, {'connected_gene': 'GC03M043165', 'score': 0.15}]