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
ENST00000504618 [[174291119, 174291203], [174291716, 174291844], [174292185, 174292383]] None
ENST00000296504 [[174292093, 174292648], [174294540, 174294666], [174295089, 174295188], [174298355, 174298683]] [[174292333, 174292648], [174294540, 174294666], [174295089, 174295188], [174298355, 174298478]]
NM_003864 [[174292092, 174292648], [174294540, 174294666], [174295089, 174295188], [174298355, 174298683]] [[174292333, 174292648], [174294540, 174294666], [174295089, 174295188], [174298355, 174298478]]
Promoter
Chrom Start End Description
chr4 174291085 174291131 CAGE_peak_3_at_SAP30_5end
chr4 174292058 174292130 CAGE_peak_1_at_SAP30_5end
chr4 174292157 174292168 CAGE_peak_2_at_SAP30_5end
chr4 174292321 174292336 CAGE_peak_4_at_SAP30_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}]