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
ENST00000477339 [[4726156, 4726275], [4788499, 4788571], [5009499, 5009540], [5010877, 5011060]] None
ENST00000380390 [[4788499, 4788571], [5009297, 5009540], [5010877, 5011098], [5011827, 5011976], [5012600, 5012726], [5013193, 5013355], [5013443, 5013659]] [[5009441, 5009540], [5010877, 5011098], [5011827, 5011976], [5012600, 5012726], [5013193, 5013355], [5013443, 5013472]]
ENST00000300762 [[5009423, 5009540], [5010877, 5011098], [5011827, 5011976], [5012600, 5012726], [5013193, 5013355], [5013443, 5013657]] [[5009441, 5009540], [5010877, 5011098], [5011827, 5011976], [5012600, 5012726], [5013193, 5013355], [5013443, 5013472]]
NM_021801 [[5009420, 5009540], [5010877, 5011098], [5011827, 5011976], [5012600, 5012726], [5013193, 5013355], [5013443, 5013659]] [[5009441, 5009540], [5010877, 5011098], [5011827, 5011976], [5012600, 5012726], [5013193, 5013355], [5013443, 5013472]]
Promoter
Chrom Start End Description
chr11 4726012 4726018 CAGE_peak_1_at_MMP26_5end
chr11 4726112 4726125 CAGE_peak_2_at_MMP26_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr11 GH11I005328 5328996 5329360 0.24 [{'connected_gene': 'OR51G1', 'score': 21.09}, {'connected_gene': 'OR51T1', 'score': 14.97}, {'connected_gene': 'OR52N2', 'score': 8.73}, {'connected_gene': 'OR52N4', 'score': 8.12}, {'connected_gene': 'OR52D1', 'score': 6.53}, {'connected_gene': 'OR52J3', 'score': 6.32}, {'connected_gene': 'MMP26', 'score': 3.98}, {'connected_gene': 'OR51L1', 'score': 3.83}, {'connected_gene': 'OR51B2', 'score': 3.4}, {'connected_gene': 'OR51M1', 'score': 3.0}, {'connected_gene': 'OR52N5', 'score': 2.95}, {'connected_gene': 'OR51V1', 'score': 2.46}, {'connected_gene': 'OR51G2', 'score': 2.22}, {'connected_gene': 'OR52N1', 'score': 2.12}, {'connected_gene': 'OR52A1', 'score': 2.0}, {'connected_gene': 'OR51B6', 'score': 1.93}, {'connected_gene': 'OR51Q1', 'score': 1.66}, {'connected_gene': 'OR51S1', 'score': 1.36}, {'connected_gene': 'OR56B1', 'score': 1.29}, {'connected_gene': 'OR51B8P', 'score': 0.77}, {'connected_gene': 'ENSG00000167355', 'score': 0.1}, {'connected_gene': 'HBE1', 'score': 0.1}, {'connected_gene': 'GC11P005064', 'score': 0.07}, {'connected_gene': 'HBG2', 'score': 0.06}]
chr11 GH11I004988 4988130 4988189 0.68 [{'connected_gene': 'MMP26', 'score': 550.06}, {'connected_gene': 'OR51F1', 'score': 9.42}, {'connected_gene': 'C11orf40', 'score': 8.91}, {'connected_gene': 'OR51L1', 'score': 0.44}, {'connected_gene': 'OR51A5P', 'score': 0.39}, {'connected_gene': 'GC11P004912', 'score': 0.18}, {'connected_gene': 'GC11P004911', 'score': 0.18}]
chr11 GH11I004881 4881833 4882613 0.68 [{'connected_gene': 'OR51T1', 'score': 550.77}, {'connected_gene': 'OR51F2', 'score': 9.78}, {'connected_gene': 'OR51A6P', 'score': 0.44}, {'connected_gene': 'MMP26', 'score': 0.1}]
chr11 GH11I004862 4862591 4863261 0.31 [{'connected_gene': 'OR51H1', 'score': 550.77}, {'connected_gene': 'OR51A6P', 'score': 15.6}, {'connected_gene': 'OR51S1', 'score': 0.77}, {'connected_gene': 'MMP26', 'score': 0.1}]
chr11 GH11I004892 4892211 4892260 0.6 [{'connected_gene': 'OR51A6P', 'score': 550.77}, {'connected_gene': 'OR51G1', 'score': 10.77}, {'connected_gene': 'OR51H1', 'score': 10.48}, {'connected_gene': 'OR51A7', 'score': 0.39}, {'connected_gene': 'MMP26', 'score': 0.09}]
chr11 GH11I005379 5379987 5379996 0.22 [{'connected_gene': 'OR51V1', 'score': 12.94}, {'connected_gene': 'OR51T1', 'score': 11.06}, {'connected_gene': 'HBB', 'score': 9.71}, {'connected_gene': 'OR51B5', 'score': 9.65}, {'connected_gene': 'OR51G1', 'score': 8.88}, {'connected_gene': 'OR56B1', 'score': 8.32}, {'connected_gene': 'OR52J3', 'score': 8.02}, {'connected_gene': 'OR51L1', 'score': 6.09}, {'connected_gene': 'OR52N4', 'score': 5.61}, {'connected_gene': 'OR52D1', 'score': 5.04}, {'connected_gene': 'OR52E2', 'score': 4.79}, {'connected_gene': 'OR52N5', 'score': 3.88}, {'connected_gene': 'OR52N2', 'score': 3.02}, {'connected_gene': 'OR52N1', 'score': 2.97}, {'connected_gene': 'MMP26', 'score': 2.64}, {'connected_gene': 'OR51B2', 'score': 2.05}, {'connected_gene': 'OR51M1', 'score': 1.92}, {'connected_gene': 'OR51G2', 'score': 1.92}, {'connected_gene': 'OR51I1', 'score': 1.91}, {'connected_gene': 'OR52A1', 'score': 1.74}, {'connected_gene': 'OR51Q1', 'score': 1.66}, {'connected_gene': 'OR52E6', 'score': 1.6}, {'connected_gene': 'GC11P005378', 'score': 0.77}, {'connected_gene': 'ENSG00000167355', 'score': 0.13}, {'connected_gene': 'HBE1', 'score': 0.13}, {'connected_gene': 'HBG2', 'score': 0.06}, {'connected_gene': 'GC11P005064', 'score': 0.06}]
chr11 GH11I004703 4703954 4705052 0.43 [{'connected_gene': 'PIR59773', 'score': 550.77}, {'connected_gene': 'GC11M004706', 'score': 550.77}, {'connected_gene': 'GC11M004707', 'score': 550.77}, {'connected_gene': 'GC11M004705', 'score': 550.77}, {'connected_gene': 'MMP26', 'score': 550.77}, {'connected_gene': 'OR51E1', 'score': 5.07}, {'connected_gene': 'OR51E2', 'score': 0.44}, {'connected_gene': 'GC11M004678', 'score': 0.34}]