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
ENST00000510260 [[22979254, 22979448], [22985932, 22986136], [22987304, 22987583]] [[22985955, 22986136], [22987304, 22987583]]
ENST00000509305 [[22979473, 22979796], [22985932, 22986136], [22987304, 22988031]] [[22985955, 22986136], [22987304, 22987879]]
ENST00000432749 [[22979681, 22979796], [22980500, 22980653], [22985932, 22986136], [22987304, 22987809]] [[22985955, 22986136], [22987304, 22987809]]
ENST00000314933 [[22979681, 22979796], [22985932, 22986136], [22987304, 22988029]] [[22985949, 22986136], [22987304, 22987879]]
NM_000491 [[22979473, 22979796], [22985932, 22986136], [22987304, 22988130]] [[22985949, 22986136], [22987304, 22987879]]
Promoter
Chrom Start End Description
chr1 22979582 22979590 CAGE_peak_5_at_C1QB_5end
chr1 22979661 22979663 CAGE_peak_8_at_C1QB_5end
chr1 22979676 22979692 CAGE_peak_3_at_C1QB_5end
chr1 22979694 22979772 CAGE_peak_1_at_C1QB_5end
chr1 22985947 22985959 CAGE_peak_16_at_C1QB_5end
chr1 22985967 22985978 CAGE_peak_15_at_C1QB_5end
chr1 22985979 22985996 CAGE_peak_12_at_C1QB_5end
chr1 22986001 22986054 CAGE_peak_4_at_C1QB_5end
chr1 22986068 22986079 CAGE_peak_13_at_C1QB_5end
chr1 22987297 22987325 CAGE_peak_9_at_C1QB_5end
chr1 22987383 22987394 CAGE_peak_10_at_C1QB_5end
chr1 22987400 22987432 CAGE_peak_6_at_C1QB_5end
chr1 22987434 22987553 CAGE_peak_2_at_C1QB_5end
chr1 22987557 22987581 CAGE_peak_7_at_C1QB_5end
chr1 22987587 22987601 CAGE_peak_14_at_C1QB_5end
chr1 22987769 22987782 CAGE_peak_11_at_C1QB_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr1 GH01I022625 22625302 22628424 0.59 [{'connected_gene': 'C1QB', 'score': 5.15}, {'connected_gene': 'LUZP1', 'score': 4.39}, {'connected_gene': 'MIR6127', 'score': 0.44}, {'connected_gene': 'EPHA8', 'score': 0.21}]
chr1 GH01I022676 22676495 22678125 0.59 [{'connected_gene': 'C1QB', 'score': 12.05}, {'connected_gene': 'ENSG00000225952', 'score': 11.11}, {'connected_gene': 'LACTBL1', 'score': 11.07}, {'connected_gene': 'GC01P022661', 'score': 0.37}, {'connected_gene': 'GC01P022662', 'score': 0.37}, {'connected_gene': 'GC01P022705', 'score': 0.31}]
chr1 GH01I022653 22653187 22653246 0.5 [{'connected_gene': 'C1QB', 'score': 550.77}, {'connected_gene': 'GC01P022661', 'score': 0.44}, {'connected_gene': 'GC01P022662', 'score': 0.44}]
chr1 GH01I022851 22851587 22851811 0.22 [{'connected_gene': 'C1QA', 'score': 2.26}, {'connected_gene': 'C1QB', 'score': 2.24}, {'connected_gene': 'C1QC', 'score': 2.15}, {'connected_gene': 'ENSG00000225952', 'score': 0.39}, {'connected_gene': 'MIR4253', 'score': 0.39}, {'connected_gene': 'EPHB2', 'score': 0.11}]
chr1 GH01I022659 22659373 22659432 0.73 [{'connected_gene': 'GC01P022661', 'score': 550.77}, {'connected_gene': 'GC01P022662', 'score': 550.77}, {'connected_gene': 'C1QB', 'score': 550.44}]

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