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
ENST00000367434 [[193148174, 193150812], [193155148, 193155784]] [[193149423, 193150692]]
NM_003783 [[193147859, 193150812], [193155148, 193155743]] [[193149423, 193150692]]
Promoter
Chrom Start End Description
chr1 193155704 193155715 CAGE_peak_2_at_B3GALT2_5end
chr1 193155729 193155757 CAGE_peak_1_at_B3GALT2_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr1 GH01I193109 193109897 193116680 1.22 [{'connected_gene': 'B3GALT2', 'score': 9.59}, {'connected_gene': 'CDC73', 'score': 0.44}, {'connected_gene': 'GLRX2', 'score': 0.44}]
chr1 GH01I193183 193183131 193190482 1.97 [{'connected_gene': 'B3GALT2', 'score': 560.54}, {'connected_gene': 'CDC73', 'score': 10.72}, {'connected_gene': 'MIR1278', 'score': 10.57}, {'connected_gene': 'UCHL5', 'score': 4.22}, {'connected_gene': 'ENSG00000276735', 'score': 0.23}]
chr1 GH01I193210 193210097 193213078 1.05 [{'connected_gene': 'B3GALT2', 'score': 0.34}, {'connected_gene': 'ENSG00000276735', 'score': 0.31}, {'connected_gene': 'CDC73', 'score': 0.17}]
chr1 GH01I193257 193257370 193258002 0.35 [{'connected_gene': 'B3GALT2', 'score': 6.98}, {'connected_gene': 'RGS2', 'score': 1.28}, {'connected_gene': 'PIR40263', 'score': 0.77}, {'connected_gene': 'LINC01031', 'score': 0.25}]
chr1 GH01I193321 193321328 193323437 0.72 [{'connected_gene': 'B3GALT2', 'score': 8.52}, {'connected_gene': 'LINC01031', 'score': 0.37}, {'connected_gene': 'GC01M193470', 'score': 0.06}]
chr1 GH01I193355 193355060 193356475 0.85 [{'connected_gene': 'B3GALT2', 'score': 7.13}, {'connected_gene': 'LINC01031', 'score': 0.23}, {'connected_gene': 'GC01M193470', 'score': 0.07}]
chr1 GH01I193312 193312910 193314304 0.31 [{'connected_gene': 'B3GALT2', 'score': 8.63}, {'connected_gene': 'LINC01031', 'score': 0.44}, {'connected_gene': 'GC01M193470', 'score': 0.06}]
chr1 GH01I193314 193314963 193315275 0.23 [{'connected_gene': 'B3GALT2', 'score': 6.57}, {'connected_gene': 'LINC01031', 'score': 0.39}, {'connected_gene': 'GC01M193470', 'score': 0.06}]
chr1 GH01I193339 193339264 193341161 0.38 [{'connected_gene': 'B3GALT2', 'score': 8.58}, {'connected_gene': 'LINC01031', 'score': 0.28}, {'connected_gene': 'GC01M193470', 'score': 0.07}]
chr1 GH01I193308 193308020 193312531 0.73 [{'connected_gene': 'B3GALT2', 'score': 9.89}, {'connected_gene': 'ENSG00000272579', 'score': 4.82}, {'connected_gene': 'LINC01031', 'score': 0.44}, {'connected_gene': 'GC01M193470', 'score': 0.06}]
chr1 GH01I193334 193334021 193338389 0.59 [{'connected_gene': 'B3GALT2', 'score': 8.59}, {'connected_gene': 'LINC01031', 'score': 0.29}, {'connected_gene': 'GC01M193470', 'score': 0.07}]
chr1 GH01I193271 193271111 193271260 0.43 [{'connected_gene': 'B3GALT2', 'score': 6.15}, {'connected_gene': 'PIR40263', 'score': 0.37}, {'connected_gene': 'LINC01031', 'score': 0.29}]
chr1 GH01I193120 193120570 193124089 2.36 [{'connected_gene': 'CDC73', 'score': 550.77}, {'connected_gene': 'B3GALT2', 'score': 9.54}, {'connected_gene': 'LOC101929160', 'score': 0.44}]
chr1 GH01I193067 193067425 193068913 0.82 [{'connected_gene': 'CDC73', 'score': 11.19}, {'connected_gene': 'MIR1278', 'score': 10.59}, {'connected_gene': 'B3GALT2', 'score': 7.31}, {'connected_gene': 'UCHL5', 'score': 5.24}, {'connected_gene': 'TROVE2', 'score': 0.44}, {'connected_gene': 'ENSG00000272579', 'score': 0.34}]
chr1 GH01I193057 193057058 193061619 2.34 [{'connected_gene': 'UCHL5', 'score': 555.57}, {'connected_gene': 'TROVE2', 'score': 550.77}, {'connected_gene': 'SCARNA18B', 'score': 550.77}, {'connected_gene': 'ZNF101P2', 'score': 19.79}, {'connected_gene': 'ENSG00000231767', 'score': 9.97}, {'connected_gene': 'B3GALT2', 'score': 5.79}]
chr1 GH01I193103 193103637 193106468 2.04 [{'connected_gene': 'GLRX2', 'score': 550.77}, {'connected_gene': 'ZNF101P2', 'score': 10.5}, {'connected_gene': 'B3GALT2', 'score': 8.83}, {'connected_gene': 'UCHL5', 'score': 4.62}, {'connected_gene': 'ENSG00000272579', 'score': 0.39}]
chr1 GH01I193229 193229291 193229440 0.2 [{'connected_gene': 'ENSG00000276735', 'score': 0.44}, {'connected_gene': 'B3GALT2', 'score': 0.26}, {'connected_gene': 'CDC73', 'score': 0.14}]