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
ENST00000601886 [[8428172, 8428246], [8428660, 8428734], [8429089, 8429493]] [[8429205, 8429493]]
ENST00000599192 [[8428182, 8428246], [8428657, 8428734], [8429089, 8429519]] [[8429205, 8429519]]
ENST00000597137 [[8428182, 8428246], [8430837, 8430948], [8431085, 8431203], [8434102, 8434216], [8435939, 8436114]] None
ENST00000601770 [[8428294, 8428734], [8429089, 8429462]] [[8429205, 8429462]]
ENST00000301455 [[8429034, 8429523], [8430837, 8430948], [8431085, 8431203], [8434102, 8434216], [8435939, 8436035], [8436124, 8436406], [8438588, 8439257]] [[8429205, 8429523], [8430837, 8430948], [8431085, 8431203], [8434102, 8434216], [8435939, 8436035], [8436124, 8436406], [8438588, 8438770]]
ENST00000541807 [[8429039, 8429435], [8429505, 8429523], [8430837, 8430948], [8431085, 8431203], [8434102, 8434216], [8435939, 8436035], [8436124, 8436406], [8438588, 8439172]] [[8431157, 8431203], [8434102, 8434216], [8435939, 8436035], [8436124, 8436406], [8438588, 8438770]]
ENST00000595079 [[8429039, 8429435], [8429505, 8429523], [8430837, 8430948], [8431085, 8431203], [8434102, 8434216], [8435939, 8436035], [8436124, 8436406], [8438588, 8439172]] [[8429205, 8429435], [8429505, 8429523], [8430837, 8430948], [8431085, 8431113]]
ENST00000598255 [[8429049, 8429523], [8430837, 8430948], [8431085, 8431203], [8435939, 8436145]] None
ENST00000594348 [[8429052, 8429523], [8430837, 8430948], [8431085, 8431203], [8434102, 8434216], [8435939, 8436146]] None
ENST00000393962 [[8429052, 8429523], [8430837, 8430948], [8431085, 8431203], [8435939, 8436035], [8436124, 8436406], [8438588, 8439215]] [[8429205, 8429523], [8430837, 8430948], [8431085, 8431203], [8435939, 8436035], [8436124, 8436406], [8438588, 8438770]]
ENST00000593998 [[8429052, 8429523], [8430837, 8430948], [8431085, 8431203], [8434102, 8434216], [8435939, 8436035], [8436124, 8436406], [8438588, 8438839], [8438899, 8439254]] [[8429205, 8429523], [8430837, 8430948], [8431085, 8431203], [8434102, 8434216], [8435939, 8436035], [8436124, 8436406], [8438588, 8438770]]
ENST00000594875 [[8429281, 8429523], [8430837, 8430948], [8439076, 8439254]] [[8429281, 8429523], [8430837, 8430948], [8439076, 8439112]]
NR_104213 [[8429010, 8429523], [8430837, 8430948], [8439076, 8439259]] None
NM_001039667 [[8429010, 8429523], [8430837, 8430948], [8431085, 8431203], [8435939, 8436035], [8436124, 8436406], [8438588, 8439259]] [[8429205, 8429523], [8430837, 8430948], [8431085, 8431203], [8435939, 8436035], [8436124, 8436406], [8438588, 8438770]]
NM_139314 [[8429010, 8429523], [8430837, 8430948], [8431085, 8431203], [8434102, 8434216], [8435939, 8436035], [8436124, 8436406], [8438588, 8439259]] [[8429205, 8429523], [8430837, 8430948], [8431085, 8431203], [8434102, 8434216], [8435939, 8436035], [8436124, 8436406], [8438588, 8438770]]
Promoter
Chrom Start End Description
chr19 8429031 8429048 CAGE_peak_1_at_ANGPTL4_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr19 GH19I008370 8370237 8371782 1.3 [{'connected_gene': 'MARCH2', 'score': 11.08}, {'connected_gene': 'ANGPTL4', 'score': 0.44}, {'connected_gene': 'MIR4999', 'score': 0.37}]
chr19 GH19I008361 8361617 8365200 2.44 [{'connected_gene': 'ANGPTL4', 'score': 561.78}, {'connected_gene': 'HNRNPM', 'score': 67.89}, {'connected_gene': 'ZNF317', 'score': 62.29}, {'connected_gene': 'XAB2', 'score': 61.4}, {'connected_gene': 'ZNF699', 'score': 58.54}, {'connected_gene': 'ZNF558', 'score': 57.77}, {'connected_gene': 'MAP2K7', 'score': 43.9}, {'connected_gene': 'ELAVL1', 'score': 42.15}, {'connected_gene': 'ZNF559', 'score': 29.59}, {'connected_gene': 'ZNF414', 'score': 28.26}, {'connected_gene': 'ZNF177', 'score': 16.48}, {'connected_gene': 'RAB11B', 'score': 13.25}, {'connected_gene': 'RAB11B-AS1', 'score': 12.17}, {'connected_gene': 'MARCH2', 'score': 5.98}, {'connected_gene': 'MIR4999', 'score': 0.31}]
chr19 GH19I008385 8385382 8386259 0.69 [{'connected_gene': 'ANGPTL4', 'score': 8.47}, {'connected_gene': 'RAB11B-AS1', 'score': 0.77}, {'connected_gene': 'MIR4999', 'score': 0.77}]
chr19 GH19I008353 8353801 8354400 1.06 [{'connected_gene': 'HNRNPM', 'score': 19.62}, {'connected_gene': 'ZNF699', 'score': 19.38}, {'connected_gene': 'ZNF317', 'score': 15.5}, {'connected_gene': 'ZNF558', 'score': 15.17}, {'connected_gene': 'ELAVL1', 'score': 14.32}, {'connected_gene': 'ZNF559', 'score': 12.93}, {'connected_gene': 'XAB2', 'score': 11.99}, {'connected_gene': 'MAP2K7', 'score': 10.77}, {'connected_gene': 'CD209', 'score': 10.13}, {'connected_gene': 'MARCH2', 'score': 6.71}, {'connected_gene': 'LOC100129682', 'score': 0.44}, {'connected_gene': 'ANGPTL4', 'score': 0.44}]
chr19 GH19I008354 8354785 8357867 1.41 [{'connected_gene': 'RAB11B', 'score': 12.74}, {'connected_gene': 'ZNF559', 'score': 10.92}, {'connected_gene': 'MARCH2', 'score': 6.71}, {'connected_gene': 'RPS28', 'score': 4.81}, {'connected_gene': 'LOC100129682', 'score': 0.44}, {'connected_gene': 'ANGPTL4', 'score': 0.44}]
chr19 GH19I008365 8365601 8368702 1.34 [{'connected_gene': 'RAB11B', 'score': 13.28}, {'connected_gene': 'ENSG00000267510', 'score': 12.05}, {'connected_gene': 'ANGPTL4', 'score': 10.84}, {'connected_gene': 'MARCH2', 'score': 5.85}, {'connected_gene': 'MYO1F', 'score': 5.33}, {'connected_gene': 'MIR4999', 'score': 0.34}]
chr19 GH19I008388 8387709 8397979 2.53 [{'connected_gene': 'RAB11B', 'score': 550.77}, {'connected_gene': 'HNRNPM', 'score': 51.53}, {'connected_gene': 'ELAVL1', 'score': 50.22}, {'connected_gene': 'ZNF699', 'score': 38.92}, {'connected_gene': 'ZNF558', 'score': 38.15}, {'connected_gene': 'XAB2', 'score': 32.85}, {'connected_gene': 'ZNF317', 'score': 23.54}, {'connected_gene': 'ENSG00000269300', 'score': 20.34}, {'connected_gene': 'MAP2K7', 'score': 19.26}, {'connected_gene': 'MARCH2', 'score': 18.5}, {'connected_gene': 'ZNF177', 'score': 13.8}, {'connected_gene': 'ZNF559', 'score': 12.93}, {'connected_gene': 'RAB11B-AS1', 'score': 12.42}, {'connected_gene': 'LOC100128428', 'score': 11.99}, {'connected_gene': 'CD209', 'score': 10.13}, {'connected_gene': 'EVI5L', 'score': 10.05}, {'connected_gene': 'ANGPTL4', 'score': 8.89}, {'connected_gene': 'RPS28', 'score': 4.85}, {'connected_gene': 'MIR4999', 'score': 0.77}, {'connected_gene': 'GC19P008401', 'score': 0.44}]
chr19 GH19I008387 8387135 8387640 0.9 [{'connected_gene': 'MIR4999', 'score': 550.77}, {'connected_gene': 'ZNF558', 'score': 23.16}, {'connected_gene': 'ZNF699', 'score': 18.54}, {'connected_gene': 'HNRNPM', 'score': 16.69}, {'connected_gene': 'ELAVL1', 'score': 16.44}, {'connected_gene': 'ZNF559', 'score': 15.0}, {'connected_gene': 'ZNF317', 'score': 14.23}, {'connected_gene': 'XAB2', 'score': 11.91}, {'connected_gene': 'ENSG00000269300', 'score': 10.96}, {'connected_gene': 'ANGPTL4', 'score': 8.49}, {'connected_gene': 'RAB11B-AS1', 'score': 0.77}]
chr19 GH19I008373 8373553 8375028 1.13 [{'connected_gene': 'RAB11B-AS1', 'score': 12.5}, {'connected_gene': 'MARCH2', 'score': 11.06}, {'connected_gene': 'ANGPTL4', 'score': 9.42}, {'connected_gene': 'MIR4999', 'score': 0.37}]
chr19 GH19I008377 8377470 8378093 0.2 [{'connected_gene': 'RAB11B-AS1', 'score': 0.39}, {'connected_gene': 'ANGPTL4', 'score': 0.39}, {'connected_gene': 'MIR4999', 'score': 0.39}]
chr19 GH19I008348 8348000 8348200 0.69 [{'connected_gene': 'LOC100129682', 'score': 550.77}, {'connected_gene': 'RPS28', 'score': 5.55}, {'connected_gene': 'ANGPTL4', 'score': 0.37}]
chr19 GH19I008347 8347837 8347986 0.7 [{'connected_gene': 'LOC100129682', 'score': 550.77}, {'connected_gene': 'ANGPTL4', 'score': 0.37}]
chr19 GH19I008352 8352401 8353153 0.97 [{'connected_gene': 'LOC100129682', 'score': 0.44}, {'connected_gene': 'ANGPTL4', 'score': 0.39}]

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