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
ENST00000454188 [[79312155, 79312409], [79312531, 79312729], [79313492, 79313630], [79313937, 79313973]] [[79312331, 79312409], [79312531, 79312729], [79313492, 79313630], [79313937, 79313973]]
ENST00000305089 [[79312156, 79312409], [79312617, 79312729], [79313492, 79313630], [79313937, 79314056], [79314674, 79314784], [79315084, 79315119]] [[79312341, 79312409], [79312617, 79312729], [79313492, 79313630], [79313937, 79314056], [79314674, 79314738]]
ENST00000479258 [[79312665, 79313630], [79313937, 79314056], [79314674, 79314784], [79315084, 79315145]] None
ENST00000476554 [[79313000, 79314056], [79314674, 79314784], [79315084, 79315143]] None
ENST00000469052 [[79314240, 79314784], [79315084, 79315119]] None
NM_006507 [[79312148, 79312409], [79312617, 79312729], [79313492, 79313630], [79313937, 79314056], [79314674, 79314784], [79315084, 79315150]] [[79312341, 79312409], [79312617, 79312729], [79313492, 79313630], [79313937, 79314056], [79314674, 79314738]]
Promoter
Chrom Start End Description
chr2 79314029 79314059 CAGE_peak_3_at_REG1B_5end
chr2 79314739 79314749 CAGE_peak_4_at_REG1B_5end
chr2 79315112 79315125 CAGE_peak_1_at_REG1B_5end
chr2 79315144 79315151 CAGE_peak_2_at_REG1B_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr2 GH02I079087 79087983 79088042 0.5 [{'connected_gene': 'REG1B', 'score': 550.77}, {'connected_gene': 'REG3G', 'score': 0.21}]
chr2 GH02I079085 79084275 79084416 0.2 [{'connected_gene': 'REG1A', 'score': 11.09}, {'connected_gene': 'REG1B', 'score': 0.77}, {'connected_gene': 'REG3G', 'score': 0.22}]
chr2 GH02I079083 79083715 79083864 0.2 [{'connected_gene': 'REG1A', 'score': 11.09}, {'connected_gene': 'REG1B', 'score': 0.77}, {'connected_gene': 'REG3G', 'score': 0.22}]
chr2 GH02I079084 79084075 79084224 0.2 [{'connected_gene': 'REG1A', 'score': 11.09}, {'connected_gene': 'REG1B', 'score': 0.77}, {'connected_gene': 'REG3G', 'score': 0.22}]
chr2 GH02I079026 79026013 79026072 0.61 [{'connected_gene': 'REG3G', 'score': 566.42}, {'connected_gene': 'REG1B', 'score': 0.21}]
chr2 GH02I079025 79025699 79025758 0.5 [{'connected_gene': 'REG3G', 'score': 550.77}, {'connected_gene': 'REG1B', 'score': 0.21}]

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