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
ENST00000254627 [[133036466, 133037023], [133041319, 133041426], [133044127, 133044299], [133045285, 133045411], [133047027, 133047081], [133049684, 133049735], [133051036, 133051078], [133051241, 133051370], [133053290, 133053403], [133053771, 133053946], [133056679, 133056736], [133058064, 133058130], [133067227, 133067320], [133071587, 133071627]] [[133036727, 133037023], [133041319, 133041426], [133044127, 133044299], [133045285, 133045411], [133047027, 133047081], [133049684, 133049735], [133051036, 133051078], [133051241, 133051370], [133053290, 133053403], [133053771, 133053946], [133056679, 133056736], [133058064, 133058130], [133067227, 133067273]]
NM_001080399 [[133036466, 133037023], [133041319, 133041426], [133044127, 133044299], [133045285, 133045411], [133047027, 133047081], [133049684, 133049735], [133051036, 133051078], [133051241, 133051370], [133053290, 133053403], [133053771, 133053946], [133056679, 133056736], [133058064, 133058130], [133067227, 133067320], [133071587, 133071627]] [[133036727, 133037023], [133041319, 133041426], [133044127, 133044299], [133045285, 133045411], [133047027, 133047081], [133049684, 133049735], [133051036, 133051078], [133051241, 133051370], [133053290, 133053403], [133053771, 133053946], [133056679, 133056736], [133058064, 133058130], [133067227, 133067273]]

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr8 GH08I132057 132057794 132058043 0.6 [{'connected_gene': 'GC08M132038', 'score': 550.77}, {'connected_gene': 'OC90', 'score': 550.77}, {'connected_gene': 'ENSG00000258417', 'score': 0.31}, {'connected_gene': 'GC08M131995', 'score': 0.22}]
chr8 GH08I132046 132046874 132047023 0.7 [{'connected_gene': 'GC08M132038', 'score': 0.39}, {'connected_gene': 'OC90', 'score': 0.39}, {'connected_gene': 'ENSG00000258417', 'score': 0.28}, {'connected_gene': 'GC08M131995', 'score': 0.25}]
chr8 GH08I132045 132045094 132045190 0.31 [{'connected_gene': 'GC08M132038', 'score': 0.39}, {'connected_gene': 'OC90', 'score': 0.39}, {'connected_gene': 'ENSG00000258417', 'score': 0.26}, {'connected_gene': 'GC08M131995', 'score': 0.26}]
chr8 GH08I132059 132059370 132059429 0.5 [{'connected_gene': 'GC08M132038', 'score': 550.77}, {'connected_gene': 'OC90', 'score': 550.77}, {'connected_gene': 'ENSG00000258417', 'score': 0.31}]