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
ENST00000584711 [[72920369, 72920428], [72920694, 72921040], [72921650, 72921787], [72923317, 72924140]] None
ENST00000331427 [[72920369, 72920428], [72920694, 72921040], [72921650, 72921787], [72923317, 72923376], [72923759, 72923893], [72926373, 72927248], [72929469, 72930006]] [[72920727, 72921040], [72921650, 72921787], [72923317, 72923376], [72923759, 72923893], [72926373, 72927248], [72929469, 72929640]]
ENST00000580223 [[72920697, 72921040], [72921650, 72921787], [72923317, 72923376], [72923759, 72923893], [72926373, 72927248], [72929469, 72930007]] [[72920727, 72921040], [72921650, 72921787], [72923317, 72923376], [72923759, 72923893], [72926373, 72927248], [72929469, 72929640]]
NM_178160 [[72920369, 72920428], [72920694, 72921040], [72921650, 72921787], [72923317, 72923376], [72923759, 72923893], [72926373, 72927248], [72929469, 72930006]] [[72920727, 72921040], [72921650, 72921787], [72923317, 72923376], [72923759, 72923893], [72926373, 72927248], [72929469, 72929640]]

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr17 GH17I074924 74924253 74924312 0.82 [{'connected_gene': 'USH1G', 'score': 550.77}, {'connected_gene': 'OTOP2', 'score': 550.77}, {'connected_gene': 'OTOP3', 'score': 0.39}]
chr17 GH17I074923 74923606 74923755 0.89 [{'connected_gene': 'USH1G', 'score': 550.77}, {'connected_gene': 'OTOP2', 'score': 550.77}, {'connected_gene': 'OTOP3', 'score': 0.39}]
chr17 GH17I074925 74923245 74923304 1.04 [{'connected_gene': 'USH1G', 'score': 550.77}, {'connected_gene': 'OTOP2', 'score': 550.77}, {'connected_gene': 'OTOP3', 'score': 0.39}]
chr17 GH17I074917 74917401 74918000 0.31 [{'connected_gene': 'GC17P074914', 'score': 0.77}, {'connected_gene': 'USH1G', 'score': 0.44}, {'connected_gene': 'OTOP2', 'score': 0.44}]