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
ENST00000327606 [[13882042, 13885645], [13915486, 13915539]] [[13884623, 13885517]]
ENST00000399821 [[13885147, 13885645], [13915628, 13915706]] [[13885147, 13885517]]
NM_000529 [[13882042, 13885645], [13915486, 13915535]] [[13884623, 13885517]]
NM_001291911 [[13882042, 13885645], [13915628, 13915706]] [[13884623, 13885517]]
Promoter
Chrom Start End Description
chr18 13915530 13915540 CAGE_peak_1_at_MC2R_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr18 GH18I013890 13890424 13890586 0.34 [{'connected_gene': 'MC5R', 'score': 6.16}, {'connected_gene': 'GC18M015411', 'score': 0.44}, {'connected_gene': 'GC18P013909', 'score': 0.37}, {'connected_gene': 'MC2R', 'score': 0.31}]
chr18 GH18I013915 13915276 13916910 0.7 [{'connected_gene': 'MC2R', 'score': 571.92}, {'connected_gene': 'CEP192', 'score': 5.35}, {'connected_gene': 'GC18M015410', 'score': 0.77}]
chr18 GH18I013893 13893493 13893727 0.69 [{'connected_gene': 'MC2R', 'score': 15.0}, {'connected_gene': 'RPL36AP49', 'score': 13.32}, {'connected_gene': 'MC5R', 'score': 4.73}, {'connected_gene': 'GC18M015411', 'score': 0.44}, {'connected_gene': 'GC18P013909', 'score': 0.37}]

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