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
ENST00000376958 [[95254156, 95254326], [95257644, 95257803], [95264443, 95264644], [95271403, 95271584], [95271721, 95271771], [95273331, 95273489], [95275362, 95275554], [95278219, 95278297], [95279266, 95286899]] [[95254181, 95254326], [95257644, 95257803], [95264443, 95264644], [95271403, 95271584], [95271721, 95271771], [95273331, 95273489], [95275362, 95275554], [95278219, 95278297], [95279266, 95279425]]
NM_180989 [[95254103, 95254326], [95257644, 95257803], [95264443, 95264644], [95271403, 95271584], [95271721, 95271771], [95273331, 95273489], [95275362, 95275554], [95278219, 95278297], [95279266, 95286899]] [[95254181, 95254326], [95257644, 95257803], [95264443, 95264644], [95271403, 95271584], [95271721, 95271771], [95273331, 95273489], [95275362, 95275554], [95278219, 95278297], [95279266, 95279425]]
Promoter
Chrom Start End Description
chr13 95254046 95254062 CAGE_peak_2_at_GPR180_5end
chr13 95254085 95254171 CAGE_peak_1_at_GPR180_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr13 GH13I094594 94594378 94596890 2 [{'connected_gene': 'TGDS', 'score': 550.77}, {'connected_gene': 'GPR180', 'score': 65.15}, {'connected_gene': 'DCT', 'score': 0.25}]
chr13 GH13I094617 94617527 94617656 0.56 [{'connected_gene': 'TGDS', 'score': 11.68}, {'connected_gene': 'GC13P094634', 'score': 0.37}, {'connected_gene': 'GPR180', 'score': 0.37}]
chr13 GH13I094600 94600789 94603402 2.01 [{'connected_gene': 'GPR180', 'score': 618.24}, {'connected_gene': 'TGDS', 'score': 10.32}, {'connected_gene': 'GC13P094634', 'score': 0.29}]
chr13 GH13I094558 94558609 94560369 0.2 [{'connected_gene': 'GPR180', 'score': 31.32}, {'connected_gene': 'DCT', 'score': 0.44}, {'connected_gene': 'TGDS', 'score': 0.28}]
chr13 GH13I094640 94640358 94642437 0.66 [{'connected_gene': 'GPR180', 'score': 11.63}, {'connected_gene': 'GC13P094634', 'score': 0.44}, {'connected_gene': 'RNA5SP36', 'score': 0.39}]
chr13 GH13I094712 94712307 94713926 0.73 [{'connected_gene': 'SOX21', 'score': 550.77}, {'connected_gene': 'GC13M094711', 'score': 550.77}, {'connected_gene': 'SOX21-AS1', 'score': 550.77}, {'connected_gene': 'GPR180', 'score': 6.19}, {'connected_gene': 'BRD7P5', 'score': 0.25}]