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
ENST00000536333 [[63137260, 63137930], [63138606, 63138710], [63141365, 63141534], [63143116, 63143240], [63149630, 63149749], [63173968, 63174183], [63177273, 63177430]] [[63137528, 63137930], [63138606, 63138710], [63141365, 63141534], [63143116, 63143158]]
ENST00000310969 [[63137260, 63137930], [63138606, 63138710], [63141365, 63141534], [63143116, 63143240], [63149630, 63149749], [63173968, 63174183], [63175583, 63175692], [63176147, 63176351], [63177273, 63177710]] [[63137528, 63137930], [63138606, 63138710], [63141365, 63141534], [63143116, 63143158]]
ENST00000279178 [[63137279, 63137930], [63138606, 63138710], [63141115, 63141270], [63141365, 63141534], [63143116, 63143240], [63149630, 63149749], [63173968, 63174183], [63175583, 63175692], [63176147, 63176351], [63177273, 63177766]] [[63137528, 63137930], [63138606, 63138710], [63141115, 63141270], [63141365, 63141534], [63143116, 63143240], [63149630, 63149749], [63173968, 63174183], [63175583, 63175692], [63176147, 63176351], [63177273, 63177334]]
NM_080866 [[63137260, 63137930], [63138606, 63138710], [63141115, 63141270], [63141365, 63141534], [63143116, 63143240], [63149630, 63149749], [63173968, 63174183], [63175583, 63175692], [63176147, 63176351], [63177273, 63177731]] [[63137528, 63137930], [63138606, 63138710], [63141115, 63141270], [63141365, 63141534], [63143116, 63143240], [63149630, 63149749], [63173968, 63174183], [63175583, 63175692], [63176147, 63176351], [63177273, 63177334]]
Promoter
Chrom Start End Description
chr11 63137251 63137267 CAGE_peak_1_at_SLC22A9_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr11 GH11I063245 63245872 63249207 0.81 [{'connected_gene': 'SLC22A8', 'score': 10.65}, {'connected_gene': 'SLC22A9', 'score': 10.49}, {'connected_gene': 'SLC22A25', 'score': 9.57}, {'connected_gene': 'LOC105369334', 'score': 0.77}, {'connected_gene': 'SLC22A10', 'score': 0.14}]
chr11 GH11I063448 63448385 63449411 0.38 [{'connected_gene': 'NUDT22', 'score': 4.83}, {'connected_gene': 'LBHD1', 'score': 4.05}, {'connected_gene': 'LOC100533643', 'score': 0.34}, {'connected_gene': 'SLC22A9', 'score': 0.18}]
chr11 GH11I063290 63290166 63290225 0.61 [{'connected_gene': 'SLC22A10', 'score': 550.1}, {'connected_gene': 'ENSG00000256181', 'score': 0.34}, {'connected_gene': 'SLC22A9', 'score': 0.18}]
chr11 GH11I063243 63243400 63244061 0.66 [{'connected_gene': 'SLC22A25', 'score': 571.35}, {'connected_gene': 'CCND2P1', 'score': 550.77}, {'connected_gene': 'SLC22A10', 'score': 38.66}, {'connected_gene': 'SLC22A9', 'score': 8.29}, {'connected_gene': 'SLC22A24', 'score': 2.16}, {'connected_gene': 'LOC105369334', 'score': 0.44}]
chr11 GH11I063362 63362549 63362578 0.69 [{'connected_gene': 'SLC22A9', 'score': 0.44}, {'connected_gene': 'ENSG00000256181', 'score': 0.15}, {'connected_gene': 'SLC22A10', 'score': 0.07}]
chr11 GH11I063404 63404189 63405101 0.81 [{'connected_gene': 'SLC22A9', 'score': 11.17}, {'connected_gene': 'PLA2G16', 'score': 4.81}, {'connected_gene': 'LOC100533643', 'score': 0.21}]
chr11 GH11I063369 63369736 63369795 1.03 [{'connected_gene': 'SLC22A9', 'score': 550.77}, {'connected_gene': 'ENSG00000256181', 'score': 0.15}]
chr11 GH11I063459 63459189 63459951 0.52 [{'connected_gene': 'ENSG00000256789', 'score': 10.99}, {'connected_gene': 'LOC100533643', 'score': 0.44}, {'connected_gene': 'SLC22A9', 'score': 0.17}]