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
ENST00000368223 [[156638554, 156642997], [156643245, 156643319], [156645007, 156645132], [156646273, 156647189]] [[156639113, 156642997], [156643245, 156643319], [156645007, 156645132], [156646273, 156647056]]
NM_006617 [[156638554, 156642997], [156643245, 156643319], [156645007, 156645132], [156646273, 156647189]] [[156639113, 156642997], [156643245, 156643319], [156645007, 156645132], [156646273, 156647056]]
Promoter
Chrom Start End Description
chr1 156640649 156640659 CAGE_peak_2_at_NES_5end
chr1 156641913 156641932 CAGE_peak_3_at_NES_5end
chr1 156642431 156642448 CAGE_peak_5_at_NES_5end
chr1 156642464 156642497 CAGE_peak_4_at_NES_5end
chr1 156642538 156642550 CAGE_peak_10_at_NES_5end
chr1 156647192 156647207 CAGE_peak_1_at_NES_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr1 GH01I156656 156656585 156671932 2.25 [{'connected_gene': 'GON4L', 'score': 89.12}, {'connected_gene': 'KHDC4', 'score': 63.33}, {'connected_gene': 'RRNAD1', 'score': 54.29}, {'connected_gene': 'LOC246784', 'score': 53.85}, {'connected_gene': 'PRCC', 'score': 38.83}, {'connected_gene': 'MSTO2P', 'score': 38.78}, {'connected_gene': 'LMNA', 'score': 31.82}, {'connected_gene': 'ISG20L2', 'score': 24.41}, {'connected_gene': 'YY1AP1', 'score': 23.53}, {'connected_gene': 'CCT3', 'score': 18.02}, {'connected_gene': 'SYT11', 'score': 14.22}, {'connected_gene': 'TSACC', 'score': 11.68}, {'connected_gene': 'ENSG00000272405', 'score': 11.0}, {'connected_gene': 'SSR2', 'score': 10.89}, {'connected_gene': 'DAP3', 'score': 10.83}, {'connected_gene': 'GLMP', 'score': 10.74}, {'connected_gene': 'BGLAP', 'score': 10.24}, {'connected_gene': 'PEAR1', 'score': 10.18}, {'connected_gene': 'PMF1', 'score': 9.85}, {'connected_gene': 'ETV3', 'score': 9.8}, {'connected_gene': 'RIT1', 'score': 9.77}, {'connected_gene': 'NES', 'score': 7.26}, {'connected_gene': 'ENSG00000272068', 'score': 7.19}, {'connected_gene': 'GPATCH4', 'score': 2.41}, {'connected_gene': 'HAPLN2', 'score': 1.44}, {'connected_gene': 'PAQR6', 'score': 1.36}, {'connected_gene': 'GC01P156668', 'score': 0.77}, {'connected_gene': 'LOC105371453', 'score': 0.77}, {'connected_gene': 'BCAN', 'score': 0.34}]
chr1 GH01I156696 156696488 156698494 0.52 [{'connected_gene': 'NES', 'score': 12.52}, {'connected_gene': 'LOC105371453', 'score': 12.46}, {'connected_gene': 'BCAN', 'score': 12.4}, {'connected_gene': 'RRNAD1', 'score': 11.19}, {'connected_gene': 'ISG20L2', 'score': 11.19}, {'connected_gene': 'HDGF', 'score': 10.69}, {'connected_gene': 'PRCC', 'score': 10.32}, {'connected_gene': 'NAXE', 'score': 9.65}, {'connected_gene': 'CRABP2', 'score': 7.59}, {'connected_gene': 'ENSG00000237588', 'score': 0.44}]
chr1 GH01I156672 156672623 156678738 2.48 [{'connected_gene': 'NES', 'score': 571.56}, {'connected_gene': 'ENSG00000272068', 'score': 5.42}, {'connected_gene': 'GC01P156668', 'score': 0.44}]
chr1 GH01I156686 156686389 156686538 0.52 [{'connected_gene': 'ENSG00000237588', 'score': 0.44}, {'connected_gene': 'NES', 'score': 0.44}]
chr1 GH01I156684 156684089 156685157 0.76 [{'connected_gene': 'ENSG00000272068', 'score': 5.15}, {'connected_gene': 'ENSG00000237588', 'score': 0.44}, {'connected_gene': 'NES', 'score': 0.44}]