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
ENST00000551529 [[86268072, 86268254], [86270417, 86270479], [86276000, 86276557]] [[86268181, 86268254], [86270417, 86270479], [86276000, 86276153]]
ENST00000256010 [[86268074, 86268254], [86270417, 86270479], [86272122, 86272347], [86276000, 86276770]] [[86268181, 86268254], [86270417, 86270479], [86272122, 86272347], [86276000, 86276153]]
ENST00000550879 [[86271806, 86272347], [86276000, 86276577]] None
NM_006183 [[86268072, 86268254], [86270417, 86270479], [86272122, 86272347], [86276000, 86276770]] [[86268181, 86268254], [86270417, 86270479], [86272122, 86272347], [86276000, 86276153]]
Promoter
Chrom Start End Description
chr12 86268065 86268080 CAGE_peak_1_at_NTS_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr12 GH12I085867 85867283 85867372 0.59 [{'connected_gene': 'RASSF9', 'score': 11.25}, {'connected_gene': 'NTS', 'score': 0.44}]
chr12 GH12I085873 85873889 85874782 1.42 [{'connected_gene': 'NTS', 'score': 550.77}, {'connected_gene': 'MGAT4C', 'score': 6.2}, {'connected_gene': 'ENSG00000258178', 'score': 4.52}]
chr12 GH12I085843 85843684 85844559 0.43 [{'connected_gene': 'MGAT4C', 'score': 10.21}, {'connected_gene': 'RASSF9', 'score': 0.44}, {'connected_gene': 'NTS', 'score': 0.29}]
chr12 GH12I085947 85947422 85949946 0.43 [{'connected_gene': 'MGAT4C', 'score': 25.35}, {'connected_gene': 'NTS', 'score': 12.26}, {'connected_gene': 'ENSG00000258178', 'score': 7.2}]
chr12 GH12I085951 85951982 85952131 0.52 [{'connected_gene': 'ENSG00000258178', 'score': 0.44}, {'connected_gene': 'NTS', 'score': 0.18}]

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