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
ENST00000333254 [[118083939, 118084125], [118084458, 118084602], [118084814, 118084900], [118100245, 118100362], [118101547, 118101713], [118116891, 118116993], [118117347, 118117450], [118137934, 118138022], [118138834, 118139541]] [[118084523, 118084602], [118084814, 118084900], [118100245, 118100362], [118101547, 118101713], [118116891, 118116993], [118117347, 118117450], [118137934, 118138022], [118138834, 118138870]]
ENST00000497093 [[118084519, 118084602], [118084814, 118084900], [118100281, 118100362], [118101547, 118101791]] None
ENST00000463594 [[118100247, 118100362], [118101547, 118101745]] None
NM_198515 [[118083939, 118084125], [118084458, 118084602], [118084814, 118084900], [118100245, 118100362], [118101547, 118101713], [118116891, 118116993], [118117347, 118117450], [118137934, 118138022], [118138834, 118139541]] [[118084523, 118084602], [118084814, 118084900], [118100245, 118100362], [118101547, 118101713], [118116891, 118116993], [118117347, 118117450], [118137934, 118138022], [118138834, 118138870]]
Promoter
Chrom Start End Description
chr10 118083919 118083933 CAGE_peak_2_at_C10orf96_5end
chr10 118083953 118083965 CAGE_peak_1_at_C10orf96_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr10 GH10I116324 116324371 116325751 0.96 [{'connected_gene': 'CCDC172', 'score': 550.77}, {'connected_gene': 'SNRPGP6', 'score': 0.18}]
chr10 GH10I116398 116398038 116398635 0.52 [{'connected_gene': 'CCDC172', 'score': 10.62}, {'connected_gene': 'SNRPGP6', 'score': 0.39}]
chr10 GH10I116296 116296013 116296915 0.38 [{'connected_gene': 'GFRA1', 'score': 12.12}, {'connected_gene': 'C10orf82', 'score': 4.67}, {'connected_gene': 'GC10P116277', 'score': 0.37}, {'connected_gene': 'CCDC172', 'score': 0.31}]
chr10 GH10I116278 116278929 116279078 0.31 [{'connected_gene': 'GC10P116277', 'score': 550.77}, {'connected_gene': 'CCDC172', 'score': 0.25}]

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