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
ENST00000301645 [[59402736, 59404333], [59404911, 59405087], [59407064, 59407195], [59409162, 59409749], [59410787, 59411028], [59412577, 59412795]] [[59404033, 59404333], [59404911, 59405087], [59407064, 59407195], [59409162, 59409749], [59410787, 59411028], [59412577, 59412657]]
NM_000780 [[59402736, 59404333], [59404911, 59405087], [59407064, 59407195], [59409162, 59409749], [59410787, 59411028], [59412577, 59412720]] [[59404033, 59404333], [59404911, 59405087], [59407064, 59407195], [59409162, 59409749], [59410787, 59411028], [59412577, 59412657]]
Promoter
Chrom Start End Description
chr8 59412717 59412723 CAGE_peak_1_at_CYP7A1_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr8 GH08I058073 58073639 58074938 0.76 [{'connected_gene': 'FAM110B', 'score': 12.41}, {'connected_gene': 'CYP7A1', 'score': 4.66}, {'connected_gene': 'ENSG00000253116', 'score': 0.29}, {'connected_gene': 'ENSG00000253523', 'score': 0.26}, {'connected_gene': 'GC08M057799', 'score': 0.18}]
chr8 GH08I058457 58457711 58459750 0.62 [{'connected_gene': 'SDCBP', 'score': 5.95}, {'connected_gene': 'UBXN2B', 'score': 5.95}, {'connected_gene': 'GC08M058432', 'score': 0.39}, {'connected_gene': 'CYP7A1', 'score': 0.26}]
chr8 GH08I058470 58470649 58471902 0.85 [{'connected_gene': 'CYP7A1', 'score': 12.88}, {'connected_gene': 'SDCBP', 'score': 6.46}, {'connected_gene': 'GC08M058432', 'score': 0.31}]
chr8 GH08I058500 58500153 58500212 1.05 [{'connected_gene': 'CYP7A1', 'score': 550.77}, {'connected_gene': 'GC08M058432', 'score': 0.23}]
chr8 GH08I058480 58480542 58480691 0.69 [{'connected_gene': 'CYP7A1', 'score': 0.34}, {'connected_gene': 'GC08M058432', 'score': 0.29}]