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
ENST00000358704 [[244214584, 244214746], [244217089, 244220778]] [[244214733, 244214746], [244217089, 244218672]]
NM_001278196 [[244212240, 244212295], [244217089, 244220778]] [[244217103, 244218672]]
NM_205768 [[244214560, 244214746], [244217089, 244220778]] [[244214733, 244214746], [244217089, 244218672]]
NM_006352 [[244216506, 244220778]] [[244217103, 244218672]]
Promoter
Chrom Start End Description
chr1 244214577 244214593 CAGE_peak_1_at_ZNF238_5end
chr1 244214611 244214624 CAGE_peak_4_at_ZNF238_5end
chr1 244214655 244214666 CAGE_peak_7_at_ZNF238_5end
chr1 244219038 244219054 CAGE_peak_3_at_ZNF238_5end
chr1 244219392 244219409 CAGE_peak_5_at_ZNF238_5end
chr1 244219775 244219893 CAGE_peak_2_at_ZNF238_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr1 GH01I244059 244059234 244064545 0.54 [{'connected_gene': 'LOC440742', 'score': 0.77}, {'connected_gene': 'ZBTB18', 'score': 0.39}]
chr1 GH01I244046 244046005 244053384 3.01 [{'connected_gene': 'ZBTB18', 'score': 573.21}, {'connected_gene': 'DESI2', 'score': 24.02}, {'connected_gene': 'ENSG00000253326', 'score': 15.36}, {'connected_gene': 'COX20', 'score': 15.18}, {'connected_gene': 'AKT3', 'score': 12.95}, {'connected_gene': 'HNRNPU', 'score': 12.83}, {'connected_gene': 'LINC01347', 'score': 11.61}, {'connected_gene': 'LOC101928068', 'score': 10.02}, {'connected_gene': 'ENSG00000236031', 'score': 9.97}, {'connected_gene': 'ADSS', 'score': 9.75}, {'connected_gene': 'SDCCAG8', 'score': 9.68}, {'connected_gene': 'LOC440742', 'score': 0.39}, {'connected_gene': 'LOC339529', 'score': 0.12}]
chr1 GH01I244057 244057262 244057474 0.71 [{'connected_gene': 'ZBTB18', 'score': 0.44}, {'connected_gene': 'LOC440742', 'score': 0.44}]
chr1 GH01I244056 244056808 244057099 0.83 [{'connected_gene': 'ZBTB18', 'score': 0.44}, {'connected_gene': 'LOC440742', 'score': 0.44}]
chr1 GH01I244055 244055946 244056260 0.71 [{'connected_gene': 'ZBTB18', 'score': 0.44}, {'connected_gene': 'LOC440742', 'score': 0.44}]
chr1 GH01I244053 244053521 244055124 0.71 [{'connected_gene': 'ZBTB18', 'score': 0.44}, {'connected_gene': 'LOC440742', 'score': 0.39}]
chr1 GH01I244037 244037466 244038789 0.2 [{'connected_gene': 'ZBTB18', 'score': 0.39}, {'connected_gene': 'GC01P244011', 'score': 0.31}, {'connected_gene': 'LOC339529', 'score': 0.13}]
chr1 GH01I244186 244186513 244186638 0.22 [{'connected_gene': 'ZBTB18', 'score': 3.75}, {'connected_gene': 'LOC105373261', 'score': 0.2}, {'connected_gene': 'GC01M244263', 'score': 0.18}]
chr1 GH01I244195 244195231 244195368 0.22 [{'connected_gene': 'ZBTB18', 'score': 3.48}, {'connected_gene': 'GC01M244263', 'score': 0.2}, {'connected_gene': 'LOC105373261', 'score': 0.18}]
chr1 GH01I244191 244191615 244191899 0.29 [{'connected_gene': 'ZBTB18', 'score': 5.9}, {'connected_gene': 'LOC105373261', 'score': 0.19}, {'connected_gene': 'GC01M244263', 'score': 0.19}]
chr1 GH01I244253 244253766 244255384 1.08 [{'connected_gene': 'AKT3', 'score': 2.26}, {'connected_gene': 'ZBTB18', 'score': 2.04}, {'connected_gene': 'ADSS', 'score': 1.62}, {'connected_gene': 'GC01M244263', 'score': 0.44}, {'connected_gene': 'LOC105373262', 'score': 0.19}, {'connected_gene': 'LOC105373261', 'score': 0.12}]
chr1 GH01I244012 244012041 244012800 0.31 [{'connected_gene': 'GC01P244011', 'score': 550.77}, {'connected_gene': 'C1orf100', 'score': 4.87}, {'connected_gene': 'ZBTB18', 'score': 0.28}, {'connected_gene': 'LOC339529', 'score': 0.15}]
chr1 GH01I244021 244021827 244023860 0.43 [{'connected_gene': 'GC01P244011', 'score': 0.39}, {'connected_gene': 'ZBTB18', 'score': 0.31}, {'connected_gene': 'LOC339529', 'score': 0.14}]
chr1 GH01I244011 244011344 244011669 0.4 [{'connected_gene': 'GC01P244011', 'score': 550.77}, {'connected_gene': 'ZBTB18', 'score': 0.28}, {'connected_gene': 'LOC339529', 'score': 0.16}]