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
ENST00000275525 [[45927955, 45928600], [45930146, 45930316], [45931530, 45931659], [45932558, 45933267]] [[45928251, 45928600], [45930146, 45930316], [45931530, 45931659], [45932558, 45932690]]
ENST00000457280 [[45927958, 45928600], [45930146, 45930316], [45931530, 45931659], [45932564, 45933224]] [[45928251, 45928600], [45930146, 45930316], [45931530, 45931659], [45932564, 45932690]]
ENST00000468955 [[45928095, 45928600], [45930146, 45930316], [45932558, 45933252]] [[45928251, 45928600], [45930146, 45930316], [45932558, 45932690]]
NM_000596 [[45927958, 45928600], [45930146, 45930316], [45931530, 45931659], [45932558, 45933267]] [[45928251, 45928600], [45930146, 45930316], [45931530, 45931659], [45932558, 45932690]]
Promoter
Chrom Start End Description
chr7 45927978 45927999 CAGE_peak_2_at_IGFBP1_5end
chr7 45928011 45928026 CAGE_peak_4_at_IGFBP1_5end
chr7 45928057 45928065 CAGE_peak_8_at_IGFBP1_5end
chr7 45928079 45928095 CAGE_peak_1_at_IGFBP1_5end
chr7 45928116 45928125 CAGE_peak_5_at_IGFBP1_5end
chr7 45928132 45928134 CAGE_peak_11_at_IGFBP1_5end
chr7 45928140 45928150 CAGE_peak_3_at_IGFBP1_5end
chr7 45928178 45928184 CAGE_peak_10_at_IGFBP1_5end
chr7 45928188 45928195 CAGE_peak_6_at_IGFBP1_5end
chr7 45928212 45928215 CAGE_peak_14_at_IGFBP1_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr7 GH07I045880 45880559 45883584 1.15 [{'connected_gene': 'SEPT7P2', 'score': 4.92}, {'connected_gene': 'IGFBP1', 'score': 0.44}, {'connected_gene': 'ENSG00000283247', 'score': 0.44}]
chr7 GH07I045918 45918292 45925137 2.24 [{'connected_gene': 'IGFBP3', 'score': 550.77}, {'connected_gene': 'ENSG00000237471', 'score': 15.43}, {'connected_gene': 'TTC4P1', 'score': 15.17}, {'connected_gene': 'IGFBP1', 'score': 10.95}, {'connected_gene': 'RNU7-76P', 'score': 10.79}, {'connected_gene': 'ENSG00000229628', 'score': 5.98}, {'connected_gene': 'GC07P046311', 'score': 0.39}]
chr7 GH07I045888 45888097 45890526 1.56 [{'connected_gene': 'IGFBP1', 'score': 555.28}, {'connected_gene': 'GC07P046311', 'score': 0.37}]
chr7 GH07I045884 45884453 45887678 1.14 [{'connected_gene': 'IGFBP1', 'score': 0.77}, {'connected_gene': 'ENSG00000283247', 'score': 0.39}]
chr7 GH07I045874 45874128 45875533 1.08 [{'connected_gene': 'ENSG00000283247', 'score': 550.77}, {'connected_gene': 'IGFBP1', 'score': 0.39}]

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