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
ENST00000460072 [[39963199, 39964199], [39971509, 39971618], [39982434, 39982549], [39983028, 39983100], [39984387, 39984508], [39988470, 39988558], [39993196, 39993249], [39995563, 39997153]] None
ENST00000505747 [[39963444, 39964199], [39971509, 39971618], [39982434, 39982549], [39983028, 39983100], [39988470, 39988558], [39993196, 39993249], [39995563, 39995641], [39996849, 39997259], [39998644, 39998780], [40006253, 40006407]] [[39963874, 39964199], [39971509, 39971618], [39982434, 39982549], [39983028, 39983100], [39988470, 39988558], [39993196, 39993249], [39995563, 39995641], [39996849, 39997259], [39998644, 39998780], [40006253, 40006379]]
ENST00000378727 [[39963446, 39964199], [39971509, 39971618], [39982434, 39982549], [39983028, 39983100], [39984387, 39984508], [39988470, 39988558], [39993196, 39993249], [39995563, 39995641], [39996849, 39997259], [39998644, 39998780], [40006253, 40006407]] [[39984487, 39984508], [39988470, 39988558], [39993196, 39993249], [39995563, 39995641], [39996849, 39997259], [39998644, 39998780], [40006253, 40006379]]
ENST00000530522 [[39963749, 39964199], [39971509, 39971618], [39982434, 39982549], [39983028, 39983100], [39988470, 39988558], [39993196, 39993249], [39995563, 39995641], [39996897, 39997259], [39998654, 39998780], [40006253, 40006361]] [[39997226, 39997259], [39998654, 39998780], [40006253, 40006361]]
ENST00000260619 [[39963874, 39964199], [39971509, 39971618], [39982434, 39982549], [39983028, 39983100], [39988470, 39988558], [39993196, 39993249], [39995563, 39995641], [39996849, 39997259], [39998644, 39998780], [40006253, 40006289]] [[39963874, 39964199], [39971509, 39971618], [39982434, 39982549], [39983028, 39983100], [39988470, 39988558], [39993196, 39993249], [39995563, 39995641], [39996849, 39997259], [39998644, 39998780], [40006253, 40006289]]
ENST00000530095 [[39963822, 39964199], [39971509, 39971794]] None
ENST00000510781 [[39988471, 39988558], [39993196, 39993249], [39995563, 39995641], [39996040, 39996233], [39996849, 39997259], [39998644, 39998780], [40006253, 40006292]] [[39993229, 39993249], [39995563, 39995641], [39996040, 39996233], [39996849, 39997259], [39998644, 39998780], [40006253, 40006292]]
ENST00000454352 [[39988471, 39988558], [39993196, 39993249], [39995563, 39995641], [39996040, 39996233], [39996849, 39997259], [39998644, 39998780], [40006253, 40006292]] [[39993229, 39993249], [39995563, 39995641], [39996040, 39996233], [39996849, 39997259], [39998644, 39998780], [40006253, 40006289]]
ENST00000527689 [[39988504, 39988558], [39993196, 39993352]] None
ENST00000403537 [[39996042, 39996331], [39996849, 39997259], [39998644, 39998780], [40006253, 40006379]] None
ENST00000531687 [[39997156, 39997259], [40006253, 40006380]] None
NR_135659 [[39963199, 39964199], [39971509, 39971618], [39982434, 39982549], [39983028, 39983100], [39984387, 39984508], [39988470, 39988558], [39993196, 39993249], [39995563, 39995641], [39996040, 39996331], [39996849, 39997259], [39998644, 39998780], [40006253, 40006416]] None
NM_001321478 [[39963199, 39964199], [39971509, 39971618], [39982434, 39982549], [39983028, 39983100], [39988470, 39988558], [39993196, 39993249], [39995563, 39995641], [39996040, 39996331], [39996849, 39997259], [39998644, 39998780], [40006253, 40006416]] [[39963874, 39964199], [39971509, 39971618], [39982434, 39982549], [39983028, 39983100], [39988470, 39988558], [39993196, 39993249], [39995563, 39995611]]
NR_135660 [[39963199, 39964199], [39971509, 39971618], [39982434, 39982549], [39983028, 39983100], [39984387, 39984508], [39988470, 39988558], [39993196, 39993249], [39995563, 39995641], [39996040, 39996233], [39996849, 39997259], [39998644, 39998780], [40006253, 40006416]] None
NM_001321481 [[39963199, 39964199], [39971509, 39971618], [39982434, 39982549], [39983028, 39983100], [39988470, 39988558], [39993196, 39993249], [39995563, 39995641], [39996040, 39996233], [39996849, 39997259], [39998644, 39998780], [40006253, 40006416]] [[39963874, 39964199], [39971509, 39971618], [39982434, 39982549], [39983028, 39983100], [39988470, 39988558], [39993196, 39993249], [39995563, 39995611]]
NR_028102 [[39963199, 39964199], [39971509, 39971618], [39982434, 39982549], [39983028, 39983100], [39984387, 39984508], [39988470, 39988558], [39993196, 39993249], [39995563, 39995641], [39996849, 39997259], [39998644, 39998780], [40006253, 40006416]] None
NM_001321468 [[39963199, 39964199], [39971509, 39971618], [39978232, 39978330], [39982434, 39982549], [39983028, 39983100], [39988470, 39988558], [39993196, 39993249], [39995563, 39995641], [39996849, 39997259], [39998644, 39998780], [40006253, 40006416]] [[39971546, 39971618], [39978232, 39978330], [39982434, 39982549], [39983028, 39983100], [39988470, 39988558], [39993196, 39993249], [39995563, 39995641], [39996849, 39997259], [39998644, 39998780], [40006253, 40006379]]
NM_025264 [[39963199, 39964199], [39971509, 39971618], [39982434, 39982549], [39983028, 39983100], [39988470, 39988558], [39993196, 39993249], [39995563, 39995641], [39996849, 39997259], [39998644, 39998780], [40006253, 40006416]] [[39963874, 39964199], [39971509, 39971618], [39982434, 39982549], [39983028, 39983100], [39988470, 39988558], [39993196, 39993249], [39995563, 39995641], [39996849, 39997259], [39998644, 39998780], [40006253, 40006379]]
NM_001321474 [[39963199, 39964199], [39971509, 39971618], [39983028, 39983100], [39988470, 39988558], [39993196, 39993249], [39995563, 39995641], [39996849, 39997259], [39998644, 39998780], [40006253, 40006416]] [[39971546, 39971618], [39983028, 39983100], [39988470, 39988558], [39993196, 39993249], [39995563, 39995641], [39996849, 39997259], [39998644, 39998780], [40006253, 40006379]]
NR_135663 [[39963199, 39964199], [39971509, 39971618], [39982434, 39982549], [39983028, 39983100], [39984387, 39984508], [39988470, 39988558], [39993196, 39993249], [39995563, 39995641], [39998644, 39998780], [40006253, 40006416]] None
NM_001321479 [[39963199, 39964199], [39971509, 39971618], [39982434, 39982549], [39983028, 39983100], [39988470, 39988558], [39993196, 39993249], [39995563, 39995641], [39998644, 39998780], [40006253, 40006416]] [[39963874, 39964199], [39971509, 39971618], [39982434, 39982549], [39983028, 39983100], [39988470, 39988558], [39993196, 39993249], [39995563, 39995611]]
NR_135661 [[39963199, 39964199], [39971509, 39971618], [39982434, 39982549], [39983028, 39983100], [39984387, 39984508], [39988470, 39988558], [39993196, 39993249], [39995563, 39995641], [39996040, 39996331], [39996849, 39997259], [39998654, 39998780], [40006253, 40006416]] None
NM_001321480 [[39963199, 39964199], [39971509, 39971618], [39982434, 39982549], [39983028, 39983100], [39988470, 39988558], [39993196, 39993249], [39995563, 39995641], [39996040, 39996331], [39996849, 39997259], [39998654, 39998780], [40006253, 40006416]] [[39963874, 39964199], [39971509, 39971618], [39982434, 39982549], [39983028, 39983100], [39988470, 39988558], [39993196, 39993249], [39995563, 39995611]]
NR_135664 [[39963199, 39964199], [39971509, 39971618], [39982434, 39982549], [39983028, 39983100], [39984387, 39984508], [39988470, 39988558], [39993196, 39993249], [39995563, 39995641], [39996040, 39996233], [39996849, 39997259], [39998654, 39998780], [40006253, 40006416]] None
NM_001321477 [[39963199, 39964199], [39971509, 39971618], [39982434, 39982549], [39983028, 39983100], [39988470, 39988558], [39993196, 39993249], [39995563, 39995641], [39996040, 39996233], [39996849, 39997259], [39998654, 39998780], [40006253, 40006416]] [[39963874, 39964199], [39971509, 39971618], [39982434, 39982549], [39983028, 39983100], [39988470, 39988558], [39993196, 39993249], [39995563, 39995611]]
NR_135662 [[39963199, 39964199], [39971509, 39971618], [39982434, 39982549], [39983028, 39983100], [39984387, 39984508], [39988470, 39988558], [39993196, 39993249], [39995563, 39995641], [39996849, 39997259], [39998654, 39998780], [40006253, 40006416]] None
NM_001321475 [[39963199, 39964199], [39971509, 39971618], [39978232, 39978330], [39982434, 39982549], [39983028, 39983100], [39988470, 39988558], [39993196, 39993249], [39995563, 39995641], [39996849, 39997259], [39998654, 39998780], [40006253, 40006416]] [[39971546, 39971618], [39978232, 39978330], [39982434, 39982549], [39983028, 39983100], [39988470, 39988558], [39993196, 39993249], [39995563, 39995641], [39996849, 39997242]]
NM_001321469 [[39963199, 39964199], [39971509, 39971618], [39982434, 39982549], [39983028, 39983100], [39988470, 39988558], [39993196, 39993249], [39995563, 39995641], [39996849, 39997259], [39998654, 39998780], [40006253, 40006416]] [[39963874, 39964199], [39971509, 39971618], [39982434, 39982549], [39983028, 39983100], [39988470, 39988558], [39993196, 39993249], [39995563, 39995641], [39996849, 39997242]]
NM_001321470 [[39963199, 39964199], [39971509, 39971618], [39982434, 39982549], [39983028, 39983100], [39988470, 39988558], [39993196, 39993249], [39995563, 39995641], [39996897, 39997259], [39998654, 39998780], [40006253, 40006416]] [[39963874, 39964199], [39971509, 39971618], [39982434, 39982549], [39983028, 39983100], [39988470, 39988558], [39993196, 39993249], [39995563, 39995641], [39996897, 39997242]]
Promoter
Chrom Start End Description
chr2 40006320 40006331 CAGE_peak_2_at_THUMPD2_5end
chr2 40006357 40006421 CAGE_peak_1_at_THUMPD2_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr2 GH02I039229 39229440 39230349 1.11 [{'connected_gene': 'THUMPD2', 'score': 20.88}, {'connected_gene': 'MAP4K3', 'score': 15.64}, {'connected_gene': 'SOS1', 'score': 14.13}, {'connected_gene': 'HNRNPLL', 'score': 10.99}, {'connected_gene': 'CDKL4', 'score': 0.37}, {'connected_gene': 'GC02M039185', 'score': 0.26}]
chr2 GH02I039782 39782965 39783601 0.92 [{'connected_gene': 'THUMPD2', 'score': 19.23}, {'connected_gene': 'SOS1', 'score': 17.5}, {'connected_gene': 'MAP4K3', 'score': 10.66}, {'connected_gene': 'ENSG00000252473', 'score': 9.81}, {'connected_gene': 'SLC8A1-AS1', 'score': 0.77}]
chr2 GH02I039777 39777432 39779990 2.02 [{'connected_gene': 'THUMPD2', 'score': 566.42}, {'connected_gene': 'TMEM178A', 'score': 0.14}]
chr2 GH02I039743 39743581 39743690 0.31 [{'connected_gene': 'THUMPD2', 'score': 0.28}, {'connected_gene': 'TMEM178A', 'score': 0.18}]
chr2 GH02I039771 39771577 39773455 0.63 [{'connected_gene': 'THUMPD2', 'score': 15.68}, {'connected_gene': 'TMEM178A', 'score': 0.14}]
chr2 GH02I039738 39738709 39739948 0.69 [{'connected_gene': 'THUMPD2', 'score': 13.99}, {'connected_gene': 'TMEM178A', 'score': 0.19}]
chr2 GH02I039774 39774001 39774200 0.31 [{'connected_gene': 'THUMPD2', 'score': 0.44}, {'connected_gene': 'TMEM178A', 'score': 0.14}]
chr2 GH02I039723 39723473 39725989 0.66 [{'connected_gene': 'THUMPD2', 'score': 0.23}, {'connected_gene': 'TMEM178A', 'score': 0.22}]
chr2 GH02I039728 39728238 39729490 0.84 [{'connected_gene': 'THUMPD2', 'score': 13.18}, {'connected_gene': 'TMEM178A', 'score': 0.21}]
chr2 GH02I039734 39734856 39738431 0.94 [{'connected_gene': 'THUMPD2', 'score': 12.46}, {'connected_gene': 'SLC8A1-AS1', 'score': 4.52}, {'connected_gene': 'TMEM178A', 'score': 0.19}]
chr2 GH02I039783 39783621 39783770 0.64 [{'connected_gene': 'THUMPD2', 'score': 0.77}, {'connected_gene': 'SLC8A1-AS1', 'score': 0.77}]
chr2 GH02I039994 39994983 39997867 0.84 [{'connected_gene': 'THUMPD2', 'score': 5.82}, {'connected_gene': 'GC02P039975', 'score': 0.34}, {'connected_gene': 'GC02M040068', 'score': 0.18}, {'connected_gene': 'SLC8A1-AS1', 'score': 0.08}]
chr2 GH02I039150 39150029 39162990 1.01 [{'connected_gene': 'SOS1', 'score': 41.36}, {'connected_gene': 'SRSF7', 'score': 19.14}, {'connected_gene': 'THUMPD2', 'score': 18.49}, {'connected_gene': 'ENSG00000202309', 'score': 12.54}, {'connected_gene': 'MAP4K3', 'score': 10.67}, {'connected_gene': 'ENSG00000252473', 'score': 9.9}, {'connected_gene': 'GC02M039129', 'score': 0.31}, {'connected_gene': 'GC02M039185', 'score': 0.31}, {'connected_gene': 'GC02P039110', 'score': 0.25}]
chr2 GH02I039215 39215850 39218688 1.32 [{'connected_gene': 'SOS1', 'score': 44.03}, {'connected_gene': 'SRSF7', 'score': 15.29}, {'connected_gene': 'THUMPD2', 'score': 13.81}, {'connected_gene': 'ARHGEF33', 'score': 13.67}, {'connected_gene': 'ENSG00000202309', 'score': 12.02}, {'connected_gene': 'ENSG00000252473', 'score': 10.57}, {'connected_gene': 'DHX57', 'score': 9.72}, {'connected_gene': 'MORN2', 'score': 9.72}, {'connected_gene': 'CDKL4', 'score': 0.31}, {'connected_gene': 'GC02M039185', 'score': 0.29}]
chr2 GH02I039138 39138856 39142830 1.37 [{'connected_gene': 'SOS1', 'score': 17.89}, {'connected_gene': 'SRSF7', 'score': 15.3}, {'connected_gene': 'THUMPD2', 'score': 13.81}, {'connected_gene': 'ENSG00000273035', 'score': 4.38}, {'connected_gene': 'ENSG00000202309', 'score': 0.39}, {'connected_gene': 'GC02M039129', 'score': 0.39}, {'connected_gene': 'GC02P039110', 'score': 0.29}, {'connected_gene': 'GC02M039185', 'score': 0.26}]
chr2 GH02I039467 39467215 39471130 1.4 [{'connected_gene': 'SRSF7', 'score': 19.11}, {'connected_gene': 'THUMPD2', 'score': 18.52}, {'connected_gene': 'SOS1', 'score': 17.52}, {'connected_gene': 'MAP4K3', 'score': 10.9}, {'connected_gene': 'ENSG00000252473', 'score': 9.86}, {'connected_gene': 'LOC728730', 'score': 7.11}, {'connected_gene': 'TMEM178A', 'score': 4.72}, {'connected_gene': 'PIR40288', 'score': 0.13}]
chr2 GH02I038959 38959861 38961201 0.96 [{'connected_gene': 'LOC375196', 'score': 550.77}, {'connected_gene': 'DHX57', 'score': 21.8}, {'connected_gene': 'ASS1P2', 'score': 13.04}, {'connected_gene': 'MORN2', 'score': 10.94}, {'connected_gene': 'THUMPD2', 'score': 10.52}, {'connected_gene': 'SRSF7', 'score': 10.4}, {'connected_gene': 'SOS1', 'score': 4.65}, {'connected_gene': 'SOS1-IT1', 'score': 0.29}, {'connected_gene': 'ARHGEF33', 'score': 0.19}]
chr2 GH02I039666 39666832 39667353 0.64 [{'connected_gene': 'TMEM178A', 'score': 42.65}, {'connected_gene': 'THUMPD2', 'score': 0.14}]
chr2 GH02I039692 39692552 39692648 0.34 [{'connected_gene': 'TMEM178A', 'score': 25.33}, {'connected_gene': 'THUMPD2', 'score': 8.49}]
chr2 GH02I039665 39665600 39666601 1.44 [{'connected_gene': 'TMEM178A', 'score': 550.77}, {'connected_gene': 'THUMPD2', 'score': 6.6}]
chr2 GH02I039695 39695116 39698117 0.84 [{'connected_gene': 'TMEM178A', 'score': 12.13}, {'connected_gene': 'THUMPD2', 'score': 0.18}]
chr2 GH02I039690 39690002 39690309 0.22 [{'connected_gene': 'TMEM178A', 'score': 30.45}, {'connected_gene': 'THUMPD2', 'score': 0.17}]
chr2 GH02I040028 40028682 40029810 0.58 [{'connected_gene': 'SLC8A1-AS1', 'score': 7.72}, {'connected_gene': 'THUMPD2', 'score': 4.5}, {'connected_gene': 'GC02M040068', 'score': 0.26}, {'connected_gene': 'GC02P039975', 'score': 0.23}]

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