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
ENST00000296503 [[174252845, 174253389], [174253971, 174254146], [174254219, 174254365], [174254650, 174254820], [174255422, 174256276]] [[174253230, 174253389], [174253971, 174254146], [174254219, 174254365], [174254650, 174254800]]
ENST00000438704 [[174252851, 174253389], [174253971, 174254146], [174254219, 174254365], [174254650, 174254823]] [[174253230, 174253389], [174253971, 174254146], [174254219, 174254365], [174254650, 174254800]]
ENST00000446922 [[174252851, 174253389], [174253971, 174254146], [174254219, 174254365], [174254650, 174254820], [174255396, 174255542]] [[174253230, 174253389], [174253971, 174254146], [174254219, 174254365], [174254650, 174254800]]
ENST00000511316 [[174252855, 174254365], [174254650, 174254820], [174255422, 174255583]] None
ENST00000506267 [[174254039, 174254146], [174254219, 174254365], [174254650, 174254820], [174255194, 174255400]] [[174254039, 174254146], [174254219, 174254365], [174254650, 174254800]]
NM_001130689 [[174252526, 174253389], [174253971, 174254146], [174254219, 174254365], [174254650, 174254920]] [[174253230, 174253389], [174253971, 174254146], [174254219, 174254365], [174254650, 174254800]]
NM_001130688 [[174252526, 174253389], [174253971, 174254146], [174254219, 174254365], [174254650, 174254820], [174255396, 174255509]] [[174253230, 174253389], [174253971, 174254146], [174254219, 174254365], [174254650, 174254800]]
NM_002129 [[174252526, 174253389], [174253971, 174254146], [174254219, 174254365], [174254650, 174254820], [174255422, 174255595]] [[174253230, 174253389], [174253971, 174254146], [174254219, 174254365], [174254650, 174254800]]
Promoter
Chrom Start End Description
chr4 174254691 174254709 CAGE_peak_7_at_HMGB2_5end
chr4 174254760 174254775 CAGE_peak_4_at_HMGB2_5end
chr4 174254823 174254862 CAGE_peak_5_at_HMGB2_5end
chr4 174254864 174254925 CAGE_peak_3_at_HMGB2_5end
chr4 174255494 174255516 CAGE_peak_1_at_HMGB2_5end
chr4 174255536 174255547 CAGE_peak_2_at_HMGB2_5end
chr4 174256283 174256303 CAGE_peak_6_at_HMGB2_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr4 GH04I173369 173369000 173373201 2.28 [{'connected_gene': 'SAP30', 'score': 550.77}, {'connected_gene': 'LOC105377540', 'score': 550.77}, {'connected_gene': 'HMGB2', 'score': 13.07}, {'connected_gene': 'ENSG00000248774', 'score': 13.05}, {'connected_gene': 'SCRG1', 'score': 12.41}, {'connected_gene': 'CEP44', 'score': 9.11}, {'connected_gene': 'FBXO8', 'score': 9.11}, {'connected_gene': 'LOC101928383', 'score': 0.39}, {'connected_gene': 'GC04M173250', 'score': 0.06}]
chr4 GH04I173414 173414801 173417599 1.48 [{'connected_gene': 'CEP44', 'score': 31.14}, {'connected_gene': 'HMGB2', 'score': 24.74}, {'connected_gene': 'ENSG00000261646', 'score': 20.77}, {'connected_gene': 'HAND2-AS1', 'score': 10.2}, {'connected_gene': 'SAP30', 'score': 1.34}, {'connected_gene': 'RPL5P11', 'score': 0.77}, {'connected_gene': 'LOC101928383', 'score': 0.29}, {'connected_gene': 'SCRG1', 'score': 0.21}, {'connected_gene': 'GC04M173250', 'score': 0.07}]
chr4 GH04I173374 173374001 173374200 0.31 [{'connected_gene': 'HMGB2', 'score': 13.07}, {'connected_gene': 'ENSG00000248774', 'score': 13.05}, {'connected_gene': 'SCRG1', 'score': 12.41}, {'connected_gene': 'FBXO8', 'score': 9.11}, {'connected_gene': 'CEP44', 'score': 9.1}, {'connected_gene': 'SAP30', 'score': 0.77}, {'connected_gene': 'LOC105377540', 'score': 0.77}, {'connected_gene': 'LOC101928383', 'score': 0.39}, {'connected_gene': 'GC04M173250', 'score': 0.06}]
chr4 GH04I173366 173366886 173368445 0.85 [{'connected_gene': 'HMGB2', 'score': 13.58}, {'connected_gene': 'ENSG00000248774', 'score': 13.56}, {'connected_gene': 'SCRG1', 'score': 12.79}, {'connected_gene': 'RNU6-1096P', 'score': 10.19}, {'connected_gene': 'CEP44', 'score': 9.11}, {'connected_gene': 'FBXO8', 'score': 9.11}, {'connected_gene': 'SAP30', 'score': 0.77}, {'connected_gene': 'LOC105377540', 'score': 0.77}, {'connected_gene': 'GC04P173358', 'score': 0.44}, {'connected_gene': 'GC04M173250', 'score': 0.06}]
chr4 GH04I173331 173331886 173336813 2.08 [{'connected_gene': 'LOC105377541', 'score': 550.77}, {'connected_gene': 'GC04P173336', 'score': 550.77}, {'connected_gene': 'HMGB2', 'score': 550.77}, {'connected_gene': 'CEP44', 'score': 33.36}, {'connected_gene': 'SCRG1', 'score': 10.95}, {'connected_gene': 'ENSG00000248774', 'score': 0.77}, {'connected_gene': 'GC04M173250', 'score': 0.05}]
chr4 GH04I174120 174120001 174120801 1.57 [{'connected_gene': 'LINC02268', 'score': 34.87}, {'connected_gene': 'CEP44', 'score': 11.39}, {'connected_gene': 'HMGB2', 'score': 11.2}, {'connected_gene': 'ENSG00000261646', 'score': 10.78}, {'connected_gene': 'HAND2-AS1', 'score': 10.09}, {'connected_gene': 'GC04P174110', 'score': 0.44}, {'connected_gene': 'ENSG00000250957', 'score': 0.29}]