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
NM_014817 [[28992973, 28997498], [28997499, 28997596], [28997598, 28998029]] [[28995226, 28997498], [28997499, 28997596], [28997598, 28997662]]
Promoter
Chrom Start End Description
chr7 28997992 28998011 CAGE_peak_4_at_TRIL_5end
chr7 28998023 28998038 CAGE_peak_5_at_TRIL_5end
chr7 28998207 28998227 CAGE_peak_6_at_TRIL_5end
chr7 28998254 28998261 CAGE_peak_10_at_TRIL_5end
chr7 28998275 28998284 CAGE_peak_8_at_TRIL_5end
chr7 28998372 28998378 CAGE_peak_9_at_TRIL_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr7 GH07I029319 29319601 29320401 1.21 [{'connected_gene': 'CHN2', 'score': 25.21}, {'connected_gene': 'CPVL', 'score': 11.69}, {'connected_gene': 'LOC102724484', 'score': 10.38}, {'connected_gene': 'TRIL', 'score': 7.19}, {'connected_gene': 'GC07P029212', 'score': 0.14}, {'connected_gene': 'GC07M029201', 'score': 0.08}]
chr7 GH07I028953 28953368 28954203 0.72 [{'connected_gene': 'LOC107986703', 'score': 11.82}, {'connected_gene': 'ENSG00000233517', 'score': 11.66}, {'connected_gene': 'TRIL', 'score': 0.77}, {'connected_gene': 'ENSG00000228421', 'score': 0.77}, {'connected_gene': 'GC07P028823', 'score': 0.12}]
chr7 GH07I028955 28955516 28959714 1.95 [{'connected_gene': 'ENSG00000228421', 'score': 576.89}, {'connected_gene': 'TRIL', 'score': 550.77}, {'connected_gene': 'GC07P028959', 'score': 550.77}, {'connected_gene': 'PIR62921', 'score': 550.77}, {'connected_gene': 'LOC107986703', 'score': 11.82}, {'connected_gene': 'ENSG00000233517', 'score': 11.68}, {'connected_gene': 'GC07P028823', 'score': 0.12}]