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
ENST00000551346 [[101869198, 101869280], [101870605, 101870685], [101871335, 101871429], [101873359, 101873472], [101876569, 101876678], [101880121, 101880775]] [[101870682, 101870685], [101871335, 101871429], [101873359, 101873472], [101876569, 101876678], [101880121, 101880549]]
ENST00000299272 [[101870656, 101870685], [101871335, 101871429], [101873359, 101873472], [101876569, 101876678], [101880121, 101880769]] [[101870682, 101870685], [101871335, 101871429], [101873359, 101873472], [101876569, 101876678], [101880121, 101880549]]
NM_152323 [[101869198, 101869280], [101870605, 101870685], [101871335, 101871429], [101873359, 101873472], [101876569, 101876678], [101880121, 101880775]] [[101870682, 101870685], [101871335, 101871429], [101873359, 101873472], [101876569, 101876678], [101880121, 101880549]]
Promoter
Chrom Start End Description
chr12 101869096 101869118 CAGE_peak_1_at_SPIC_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr12 GH12I101582 101582479 101585217 0.4 [{'connected_gene': 'CHPT1', 'score': 11.08}, {'connected_gene': 'SPIC', 'score': 10.53}, {'connected_gene': 'RNA5SP367', 'score': 10.53}, {'connected_gene': 'RNU5E-5P', 'score': 10.52}, {'connected_gene': 'SYCP3', 'score': 10.47}, {'connected_gene': 'RNU6-101P', 'score': 9.62}, {'connected_gene': 'MYBPC1', 'score': 0.37}, {'connected_gene': 'LOC105369938', 'score': 0.29}]
chr12 GH12I101475 101475287 101475346 0.5 [{'connected_gene': 'SPIC', 'score': 550.77}, {'connected_gene': 'RNA5SP367', 'score': 0.77}]

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