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
ENST00000394272 [[91474147, 91474635], [91474933, 91475174], [91475284, 91475340], [91475658, 91475799]] [[91474504, 91474635], [91474933, 91475174], [91475284, 91475340], [91475658, 91475770]]
ENST00000330334 [[91474154, 91474786], [91474933, 91475174], [91475284, 91475340], [91475658, 91475776]] [[91474772, 91474786], [91474933, 91475174], [91475284, 91475340], [91475658, 91475770]]
ENST00000494993 [[91474154, 91474635], [91474933, 91475174], [91475284, 91475782]] None
ENST00000559898 [[91474328, 91475174], [91475284, 91475340], [91475658, 91475780]] [[91474910, 91475174], [91475284, 91475340], [91475658, 91475770]]
ENST00000559834 [[91474380, 91474635], [91474933, 91475754]] None
ENST00000561036 [[91474566, 91474635], [91474933, 91475174], [91475284, 91475340], [91475615, 91475706]] [[91474566, 91474635], [91474933, 91475174], [91475284, 91475340], [91475615, 91475706]]
NR_104447 [[91474147, 91474635], [91474933, 91475174], [91475284, 91475340], [91475615, 91475799]] None
NM_198527 [[91474147, 91474786], [91474933, 91475174], [91475284, 91475340], [91475658, 91475799]] [[91474772, 91474786], [91474933, 91475174], [91475284, 91475340], [91475658, 91475770]]
NM_001286451 [[91474147, 91474635], [91474933, 91475174], [91475284, 91475340], [91475658, 91475799]] [[91474504, 91474635], [91474933, 91475174], [91475284, 91475340], [91475658, 91475770]]
Promoter
Chrom Start End Description
chr15 91475727 91475742 CAGE_peak_2_at_HDDC3_5end
chr15 91475747 91475802 CAGE_peak_1_at_HDDC3_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr15 GH15I090928 90928001 90933160 2.32 [{'connected_gene': 'UNC45A', 'score': 597.61}, {'connected_gene': 'HDDC3', 'score': 550.77}, {'connected_gene': 'RCCD1', 'score': 18.35}, {'connected_gene': 'ENSG00000259212', 'score': 13.29}, {'connected_gene': 'ENSG00000259314', 'score': 13.03}, {'connected_gene': 'MAN2A2', 'score': 12.57}, {'connected_gene': 'FES', 'score': 12.51}, {'connected_gene': 'ENSG00000224441', 'score': 0.77}]
chr15 GH15I090834 90834644 90835111 0.79 [{'connected_gene': 'FURIN', 'score': 12.56}, {'connected_gene': 'FES', 'score': 12.51}, {'connected_gene': 'VPS33B-DT', 'score': 12.35}, {'connected_gene': 'HDDC3', 'score': 11.42}, {'connected_gene': 'UNC45A', 'score': 11.42}, {'connected_gene': 'ENSG00000200677', 'score': 11.01}, {'connected_gene': 'LOC105370969', 'score': 0.77}, {'connected_gene': 'GC15M090794', 'score': 0.39}]
chr15 GH15I090933 90933291 90933440 0.46 [{'connected_gene': 'HDDC3', 'score': 550.77}, {'connected_gene': 'ENSG00000224441', 'score': 550.77}, {'connected_gene': 'UNC45A', 'score': 0.77}]
chr15 GH15I090986 90986931 90987080 0.6 [{'connected_gene': 'VPS33B', 'score': 12.3}, {'connected_gene': 'VPS33B-DT', 'score': 12.3}, {'connected_gene': 'HDDC3', 'score': 10.95}, {'connected_gene': 'ENSG00000224441', 'score': 10.95}, {'connected_gene': 'UNC45A', 'score': 10.94}, {'connected_gene': 'GC15M090978', 'score': 0.44}, {'connected_gene': 'PRC1', 'score': 0.44}, {'connected_gene': 'ENSG00000200142', 'score': 0.44}, {'connected_gene': 'PRC1-AS1', 'score': 0.34}, {'connected_gene': 'GC15P090938', 'score': 0.25}]
chr15 GH15I090829 90829260 90831892 1.39 [{'connected_gene': 'FES', 'score': 24.13}, {'connected_gene': 'UNC45A', 'score': 13.99}, {'connected_gene': 'FURIN', 'score': 12.54}, {'connected_gene': 'VPS33B-DT', 'score': 12.34}, {'connected_gene': 'HDDC3', 'score': 11.41}, {'connected_gene': 'ENSG00000200677', 'score': 11.01}, {'connected_gene': 'IQGAP1', 'score': 3.52}, {'connected_gene': 'LOC105370969', 'score': 0.44}, {'connected_gene': 'GC15M090794', 'score': 0.39}]
chr15 GH15I090835 90835911 90842736 1.71 [{'connected_gene': 'LOC105370969', 'score': 559.05}, {'connected_gene': 'UNC45A', 'score': 24.0}, {'connected_gene': 'FES', 'score': 20.55}, {'connected_gene': 'BLM', 'score': 17.98}, {'connected_gene': 'FURIN', 'score': 13.79}, {'connected_gene': 'VPS33B-DT', 'score': 13.57}, {'connected_gene': 'LOC100631255', 'score': 12.19}, {'connected_gene': 'MAN2A2', 'score': 11.75}, {'connected_gene': 'HDDC3', 'score': 11.42}, {'connected_gene': 'ENSG00000259314', 'score': 11.27}, {'connected_gene': 'ENSG00000200677', 'score': 11.01}, {'connected_gene': 'VPS33B', 'score': 10.72}, {'connected_gene': 'CRTC3', 'score': 1.97}, {'connected_gene': 'IQGAP1', 'score': 1.32}, {'connected_gene': 'GC15M090794', 'score': 0.37}]