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
ENST00000538056 [[49822046, 49822255], [49823006, 49823101], [49829974, 49830049], [49833481, 49833659], [49840014, 49840046]] [[49822173, 49822255], [49823006, 49823101], [49829974, 49830049], [49833481, 49833659], [49840014, 49840046]]
ENST00000251108 [[49822060, 49822255], [49823006, 49823101], [49829974, 49830049], [49833481, 49833659], [49841625, 49842195], [49848426, 49848476], [49852485, 49852655], [49854644, 49854834], [49860357, 49860418], [49865819, 49867618]] [[49822173, 49822255], [49823006, 49823101], [49829974, 49830049], [49833481, 49833659], [49841625, 49842195], [49848426, 49848476], [49852485, 49852655], [49854644, 49854834], [49860357, 49860418], [49865819, 49865893]]
ENST00000496952 [[49822071, 49822605], [49823006, 49823101], [49829974, 49830051]] None
ENST00000496061 [[49822076, 49822255], [49823006, 49823101], [49829974, 49830049], [49833481, 49833659], [49840014, 49840139], [49841625, 49841661]] [[49822173, 49822255], [49823006, 49823101], [49829974, 49830049], [49833481, 49833659], [49840014, 49840046]]
ENST00000466868 [[49822082, 49822255], [49823006, 49823101], [49829974, 49830049], [49833621, 49833659], [49841625, 49841921]] None
ENST00000444959 [[49822082, 49822255], [49823006, 49823101], [49829974, 49830049], [49841625, 49842195], [49848426, 49848476], [49852485, 49852655], [49854644, 49854834], [49860357, 49860418], [49865819, 49866333]] [[49841789, 49842195], [49848426, 49848476], [49852485, 49852655], [49854644, 49854834], [49860357, 49860418], [49865819, 49865893]]
ENST00000484126 [[49822112, 49822255], [49823006, 49823101], [49829974, 49830049], [49833621, 49833659], [49840014, 49840139], [49841625, 49841793]] [[49822173, 49822255], [49823006, 49823101], [49829974, 49830049], [49833621, 49833659], [49840014, 49840033]]
ENST00000429346 [[49822183, 49822255], [49823006, 49823101], [49829974, 49830049], [49840014, 49840062]] [[49822183, 49822255], [49823006, 49823101], [49829974, 49830049], [49840014, 49840062]]
NR_036439 [[49822046, 49822255], [49823006, 49823101], [49829974, 49830049], [49841625, 49842195], [49848426, 49848476], [49852485, 49852655], [49854644, 49854834], [49860357, 49860418], [49865819, 49867622]] None
NM_001193478 [[49822046, 49822255], [49823006, 49823101], [49829974, 49830049], [49833481, 49833659], [49841625, 49842195], [49848426, 49848476], [49852485, 49852655], [49854644, 49854834], [49860357, 49860418], [49866913, 49867622]] [[49822173, 49822255], [49823006, 49823101], [49829974, 49830049], [49833481, 49833659], [49841625, 49842195], [49848426, 49848476], [49852485, 49852655], [49854644, 49854834], [49860357, 49860418], [49866913, 49866918]]
NM_030911 [[49822046, 49822255], [49823006, 49823101], [49829974, 49830049], [49833481, 49833659], [49841625, 49842195], [49848426, 49848476], [49852485, 49852655], [49854644, 49854834], [49860357, 49860418], [49865819, 49867622]] [[49822173, 49822255], [49823006, 49823101], [49829974, 49830049], [49833481, 49833659], [49841625, 49842195], [49848426, 49848476], [49852485, 49852655], [49854644, 49854834], [49860357, 49860418], [49865819, 49865893]]
Promoter
Chrom Start End Description
chr13 49822041 49822086 CAGE_peak_1_at_CDADC1_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr13 GH13I049292 49292345 49293390 0.84 [{'connected_gene': 'SETDB2', 'score': 29.13}, {'connected_gene': 'TRIM13', 'score': 10.91}, {'connected_gene': 'CDADC1', 'score': 10.63}, {'connected_gene': 'CAB39L', 'score': 4.29}, {'connected_gene': 'GC13P049296', 'score': 0.77}, {'connected_gene': 'GC13M049248', 'score': 0.26}]
chr13 GH13I049059 49059997 49060966 0.52 [{'connected_gene': 'CDADC1', 'score': 5.01}, {'connected_gene': 'RAD17P2', 'score': 0.39}, {'connected_gene': 'GC13P049077', 'score': 0.37}, {'connected_gene': 'FNDC3A', 'score': 0.18}]
chr13 GH13I049302 49302361 49303326 0.2 [{'connected_gene': 'CDADC1', 'score': 10.51}, {'connected_gene': 'CAB39L', 'score': 8.61}, {'connected_gene': 'GC13P049296', 'score': 0.44}, {'connected_gene': 'GC13P049390', 'score': 0.17}]
chr13 GH13I049303 49303625 49304167 0.83 [{'connected_gene': 'CDADC1', 'score': 10.5}, {'connected_gene': 'CAB39L', 'score': 8.61}, {'connected_gene': 'GC13P049296', 'score': 0.44}, {'connected_gene': 'GC13P049390', 'score': 0.17}]
chr13 GH13I049319 49319317 49321731 0.51 [{'connected_gene': 'CDADC1', 'score': 10.04}, {'connected_gene': 'GC13P049296', 'score': 0.34}, {'connected_gene': 'GC13P049390', 'score': 0.2}, {'connected_gene': 'CAB39L', 'score': 0.13}]
chr13 GH13I049309 49309847 49310477 0.2 [{'connected_gene': 'CDADC1', 'score': 10.31}, {'connected_gene': 'GC13P049296', 'score': 0.39}, {'connected_gene': 'GC13P049390', 'score': 0.18}, {'connected_gene': 'CAB39L', 'score': 0.12}]
chr13 GH13I049277 49277785 49278750 0.31 [{'connected_gene': 'CDADC1', 'score': 23.24}, {'connected_gene': 'MLNR', 'score': 12.95}, {'connected_gene': 'CAB39L', 'score': 8.47}, {'connected_gene': 'GC13P049296', 'score': 0.37}, {'connected_gene': 'GC13M049248', 'score': 0.31}]
chr13 GH13I049247 49247141 49249422 2.21 [{'connected_gene': 'CDADC1', 'score': 550.77}, {'connected_gene': 'LOC105370203', 'score': 550.77}, {'connected_gene': 'CAB39L', 'score': 8.83}, {'connected_gene': 'GC13M049248', 'score': 0.77}, {'connected_gene': 'GC13M049249', 'score': 0.77}]
chr13 GH13I049257 49257601 49258950 0.6 [{'connected_gene': 'MLNR', 'score': 11.93}, {'connected_gene': 'CAB39L', 'score': 8.44}, {'connected_gene': 'GC13M049248', 'score': 0.44}, {'connected_gene': 'CDADC1', 'score': 0.39}, {'connected_gene': 'GC13P049296', 'score': 0.28}]
chr13 GH13I049264 49264856 49266721 0.31 [{'connected_gene': 'MLNR', 'score': 12.26}, {'connected_gene': 'CDADC1', 'score': 10.73}, {'connected_gene': 'GC13M049248', 'score': 0.39}, {'connected_gene': 'GC13P049296', 'score': 0.29}]
chr13 GH13I049252 49252617 49255310 0.38 [{'connected_gene': 'MLNR', 'score': 11.94}, {'connected_gene': 'GC13M049248', 'score': 0.77}, {'connected_gene': 'CDADC1', 'score': 0.44}, {'connected_gene': 'GC13P049296', 'score': 0.26}]
chr13 GH13I049298 49298980 49299954 0.49 [{'connected_gene': 'MLNR', 'score': 11.28}, {'connected_gene': 'PHF11', 'score': 10.76}, {'connected_gene': 'CDADC1', 'score': 10.5}, {'connected_gene': 'GC13P049296', 'score': 0.77}, {'connected_gene': 'GC13P049390', 'score': 0.16}]
chr13 GH13I048974 48974590 48980813 2.05 [{'connected_gene': 'FNDC3A', 'score': 556.62}, {'connected_gene': 'ENSG00000275202', 'score': 550.77}, {'connected_gene': 'GC13M048972', 'score': 550.77}, {'connected_gene': 'CDADC1', 'score': 5.62}, {'connected_gene': 'GC13P048988', 'score': 0.39}]
chr13 GH13I049295 49295098 49296024 0.2 [{'connected_gene': 'GC13P049296', 'score': 550.77}, {'connected_gene': 'CDADC1', 'score': 10.33}, {'connected_gene': 'CAB39L', 'score': 9.24}, {'connected_gene': 'GC13M049248', 'score': 0.26}]
chr13 GH13I048988 48988905 48989197 0.26 [{'connected_gene': 'GC13P048988', 'score': 550.77}, {'connected_gene': 'RNU6-60P', 'score': 550.77}, {'connected_gene': 'FNDC3A', 'score': 4.86}, {'connected_gene': 'SETDB2', 'score': 4.08}, {'connected_gene': 'CYSLTR2', 'score': 1.8}, {'connected_gene': 'CDADC1', 'score': 1.71}, {'connected_gene': 'RCBTB2', 'score': 1.57}, {'connected_gene': 'RAD17P2', 'score': 0.22}]