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
ENST00000562982 [[80574630, 80574751], [80577172, 80577248], [80583380, 80583548], [80584411, 80584538]] [[80574661, 80574751], [80577172, 80577248], [80583380, 80583548], [80584411, 80584455]]
ENST00000305904 [[80574853, 80574976], [80577172, 80577248], [80583380, 80583548], [80584411, 80584541]] [[80574973, 80574976], [80577172, 80577248], [80583380, 80583548], [80584411, 80584455]]
ENST00000568035 [[80574889, 80574976], [80577172, 80577248], [80584411, 80584657]] [[80574973, 80574976], [80577172, 80577248], [80584411, 80584455]]
ENST00000338542 [[80574921, 80574976], [80577172, 80577248], [80581654, 80581744], [80583380, 80583548], [80584411, 80584536]] [[80574973, 80574976], [80577172, 80577248], [80581654, 80581740]]
ENST00000561880 [[80574924, 80574976], [80577172, 80577248], [80582839, 80583548], [80584411, 80584545]] [[80574973, 80574976], [80577172, 80577248], [80582839, 80582895]]
ENST00000570222 [[80578595, 80578694], [80583380, 80583548], [80584411, 80584541]] None
NM_001305017 [[80574630, 80574751], [80577172, 80577248], [80583380, 80583548], [80584411, 80584706]] [[80574661, 80574751], [80577172, 80577248], [80583380, 80583548], [80584411, 80584455]]
NM_130897 [[80574848, 80574976], [80577172, 80577248], [80583380, 80583548], [80584411, 80584706]] [[80574973, 80574976], [80577172, 80577248], [80583380, 80583548], [80584411, 80584455]]
NR_130942 [[80574848, 80574976], [80577172, 80577248], [80582839, 80583548], [80584411, 80584706]] None
NR_130943 [[80574848, 80574976], [80577172, 80577248], [80581654, 80581744], [80583380, 80583548], [80584411, 80584706]] None
Promoter
Chrom Start End Description
chr16 80574877 80574927 CAGE_peak_1_at_DYNLRB2_5end
chr16 80574943 80574957 CAGE_peak_2_at_DYNLRB2_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr16 GH16I080579 80579704 80581030 0.94 [{'connected_gene': 'DYNLRB2', 'score': 19.0}, {'connected_gene': 'CMC2', 'score': 1.57}, {'connected_gene': 'LINC01227', 'score': 0.44}, {'connected_gene': 'PIR62926', 'score': 0.37}]
chr16 GH16I080824 80824904 80825033 0.65 [{'connected_gene': 'DYNLRB2', 'score': 11.09}, {'connected_gene': 'CDYL2', 'score': 0.37}, {'connected_gene': 'LINC02170', 'score': 0.2}]
chr16 GH16I080752 80752705 80752858 0.53 [{'connected_gene': 'DYNLRB2', 'score': 15.23}, {'connected_gene': 'ENSG00000261141', 'score': 11.65}, {'connected_gene': 'C16orf46', 'score': 3.86}, {'connected_gene': 'ENSG00000260594', 'score': 0.37}, {'connected_gene': 'CDYL2', 'score': 0.23}]
chr16 GH16I080540 80540044 80541600 2.04 [{'connected_gene': 'DYNLRB2', 'score': 565.62}, {'connected_gene': 'LOC105371360', 'score': 0.39}, {'connected_gene': 'LOC102724084', 'score': 0.34}]
chr16 GH16I080541 80541764 80541773 0.38 [{'connected_gene': 'DYNLRB2', 'score': 550.77}, {'connected_gene': 'LOC105371360', 'score': 0.39}, {'connected_gene': 'LOC102724084', 'score': 0.34}]
chr16 GH16I080542 80541624 80541633 0.38 [{'connected_gene': 'DYNLRB2', 'score': 550.77}, {'connected_gene': 'LOC105371360', 'score': 0.39}, {'connected_gene': 'LOC102724084', 'score': 0.34}]
chr16 GH16I080568 80568932 80570384 1.08 [{'connected_gene': 'DYNLRB2', 'score': 11.52}, {'connected_gene': 'ENSG00000260495', 'score': 11.38}, {'connected_gene': 'LINC01227', 'score': 0.77}, {'connected_gene': 'LOC102724084', 'score': 0.44}]
chr16 GH16I080591 80591401 80591600 0.43 [{'connected_gene': 'DYNLRB2', 'score': 6.18}, {'connected_gene': 'PIR62926', 'score': 0.44}, {'connected_gene': 'LINC01227', 'score': 0.37}]
chr16 GH16I081538 81538050 81540085 0.97 [{'connected_gene': 'CMIP', 'score': 16.52}, {'connected_gene': 'ATMIN', 'score': 12.18}, {'connected_gene': 'DYNLRB2', 'score': 10.95}, {'connected_gene': 'MPHOSPH6', 'score': 10.83}, {'connected_gene': 'MIR7854', 'score': 0.44}, {'connected_gene': 'MIR6504', 'score': 0.19}]
chr16 GH16I080526 80526544 80526693 0.59 [{'connected_gene': 'CDYL2', 'score': 11.08}, {'connected_gene': 'DYNLRB2', 'score': 0.39}, {'connected_gene': 'LOC102724084', 'score': 0.28}, {'connected_gene': 'GC16P080481', 'score': 0.25}]
chr16 GH16I080564 80564269 80564533 0.2 [{'connected_gene': 'LOC102724084', 'score': 550.77}, {'connected_gene': 'DYNLRB2', 'score': 24.99}, {'connected_gene': 'LINC01227', 'score': 0.44}]
chr16 GH16I081431 81431202 81433600 1.63 [{'connected_gene': 'ENSG00000261141', 'score': 11.94}, {'connected_gene': 'DYNLRB2', 'score': 10.47}, {'connected_gene': 'CMIP', 'score': 6.03}, {'connected_gene': 'PLCG2', 'score': 1.68}, {'connected_gene': 'ENSG00000272923', 'score': 0.25}]
chr16 GH16I081460 81460751 81464494 0.68 [{'connected_gene': 'ENSG00000261141', 'score': 11.93}, {'connected_gene': 'DYNLRB2', 'score': 10.47}, {'connected_gene': 'ENSG00000279021', 'score': 0.77}, {'connected_gene': 'CMIP', 'score': 0.37}]
chr16 GH16I080736 80736015 80736109 0.54 [{'connected_gene': 'ENSG00000260594', 'score': 550.77}, {'connected_gene': 'DYNLRB2', 'score': 15.06}, {'connected_gene': 'CDYL2', 'score': 11.57}, {'connected_gene': 'C16orf46', 'score': 3.96}, {'connected_gene': 'ENSG00000260064', 'score': 0.14}]
chr16 GH16I080507 80507604 80507733 0.2 [{'connected_gene': 'GC16P080481', 'score': 0.31}, {'connected_gene': 'DYNLRB2', 'score': 0.29}, {'connected_gene': 'LOC102724084', 'score': 0.22}]