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
ENST00000355619 [[77579388, 77581923], [77589543, 77589715], [77592734, 77592857], [77595647, 77595996], [77600961, 77601285]] [[77581279, 77581923], [77589543, 77589715], [77592734, 77592857]]
ENST00000417323 [[77581699, 77581923], [77589543, 77589715], [77592734, 77592857], [77595791, 77595996], [77600961, 77601330]] [[77581699, 77581923], [77589543, 77589715], [77592734, 77592857]]
ENST00000472949 [[77589645, 77589715], [77600961, 77601220]] None
ENST00000485797 [[77566739, 77567086], [77589543, 77589716]] None
ENST00000477982 [[77575695, 77576184], [77589543, 77589715], [77592734, 77592821]] None
ENST00000470210 [[77589299, 77589715], [77592734, 77592879]] None
NM_012158 [[77579388, 77581923], [77589543, 77589715], [77592734, 77592857], [77595647, 77595996], [77600961, 77601331]] [[77581279, 77581923], [77589543, 77589715], [77592734, 77592857]]
Promoter
Chrom Start End Description
chr13 77601282 77601308 CAGE_peak_1_at_FBXL3_5end
chr13 77601327 77601334 CAGE_peak_2_at_FBXL3_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr13 GH13I077316 77316401 77316800 0.4 [{'connected_gene': 'FBXL3', 'score': 4.51}, {'connected_gene': 'MYCBP2', 'score': 0.39}, {'connected_gene': 'GC13P077273', 'score': 0.26}]
chr13 GH13I077025 77025099 77028582 2 [{'connected_gene': 'FBXL3', 'score': 564.99}, {'connected_gene': 'MYCBP2-AS1', 'score': 555.89}, {'connected_gene': 'ENSG00000274898', 'score': 550.77}, {'connected_gene': 'MYCBP2-AS2', 'score': 12.13}, {'connected_gene': 'CLN5', 'score': 9.74}, {'connected_gene': 'ENSG00000283208', 'score': 0.29}]
chr13 GH13I077324 77324747 77327861 2.51 [{'connected_gene': 'MYCBP2', 'score': 556.43}, {'connected_gene': 'CLN5', 'score': 4.41}, {'connected_gene': 'FBXL3', 'score': 4.11}, {'connected_gene': 'KCTD12', 'score': 1.46}, {'connected_gene': 'GC13P077273', 'score': 0.23}]
chr13 GH13I076936 76936867 76938294 0.69 [{'connected_gene': 'CLN5', 'score': 5.23}, {'connected_gene': 'FBXL3', 'score': 4.31}, {'connected_gene': 'BTF3P11', 'score': 0.44}, {'connected_gene': 'LOC105370269', 'score': 0.44}]
chr13 GH13I077345 77345000 77345971 1.22 [{'connected_gene': 'CLN5', 'score': 5.5}, {'connected_gene': 'MYCBP2', 'score': 5.31}, {'connected_gene': 'FBXL3', 'score': 2.35}, {'connected_gene': 'LOC105370271', 'score': 0.13}]
chr13 GH13I076878 76878790 76881399 0.88 [{'connected_gene': 'KCTD12', 'score': 6.55}, {'connected_gene': 'FBXL3', 'score': 1.43}, {'connected_gene': 'LOC105370265', 'score': 0.19}]
chr13 GH13I076820 76820138 76821566 0.31 [{'connected_gene': 'KCTD12', 'score': 11.32}, {'connected_gene': 'FBXL3', 'score': 4.12}, {'connected_gene': 'LOC105370265', 'score': 0.39}]
chr13 GH13I077022 77022201 77022800 0.46 [{'connected_gene': 'MYCBP2-AS2', 'score': 11.57}, {'connected_gene': 'FBXL3', 'score': 11.05}, {'connected_gene': 'MYCBP2', 'score': 9.93}, {'connected_gene': 'MYCBP2-AS1', 'score': 0.77}, {'connected_gene': 'ENSG00000283208', 'score': 0.29}]
chr13 GH13I077023 77023801 77024000 0.2 [{'connected_gene': 'MYCBP2-AS1', 'score': 0.77}, {'connected_gene': 'FBXL3', 'score': 0.77}, {'connected_gene': 'ENSG00000283208', 'score': 0.29}]
chr13 GH13I076980 76980001 76980600 1 [{'connected_gene': 'GC13M076982', 'score': 550.77}, {'connected_gene': 'RPL7P44', 'score': 550.77}, {'connected_gene': 'FBXL3', 'score': 10.31}, {'connected_gene': 'ACOD1', 'score': 0.29}]
chr13 GH13I076990 76990862 76994621 1.53 [{'connected_gene': 'ENSG00000283208', 'score': 550.77}, {'connected_gene': 'FBXL3', 'score': 14.5}, {'connected_gene': 'CLN5', 'score': 13.66}, {'connected_gene': 'MYCBP2-AS1', 'score': 0.29}]