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
ENST00000481390 [[75668934, 75669052], [75671282, 75671370], [75671798, 75671826], [75671972, 75672080], [75672681, 75672807]] [[75671313, 75671370], [75671798, 75671826], [75671972, 75672080], [75672681, 75672807]]
ENST00000496926 [[75670362, 75670507], [75671282, 75671297]] None
ENST00000446342 [[75670861, 75670976], [75671282, 75671683], [75671972, 75672080], [75672681, 75672856], [75673047, 75673139], [75673296, 75673516], [75673737, 75673886], [75674533, 75674674], [75675008, 75675157], [75676146, 75677254]] [[75671649, 75671683], [75671972, 75672080], [75672681, 75672856], [75673047, 75673139], [75673296, 75673516], [75673737, 75673886], [75674533, 75674674], [75675008, 75675157], [75676146, 75676323]]
ENST00000494287 [[75670904, 75670976], [75671282, 75671370], [75671972, 75672080], [75672681, 75672856], [75673047, 75673139], [75673296, 75673511]] None
ENST00000372764 [[75670914, 75670976], [75671282, 75671370], [75671798, 75671826], [75671972, 75672080], [75672681, 75672856], [75673047, 75673139], [75673296, 75673516], [75673737, 75673886], [75674533, 75674674], [75675008, 75675157], [75676146, 75677255]] [[75671313, 75671370], [75671798, 75671826], [75671972, 75672080], [75672681, 75672856], [75673047, 75673139], [75673296, 75673516], [75673737, 75673886], [75674533, 75674674], [75675008, 75675157], [75676146, 75676323]]
ENST00000372762 [[75670915, 75670976], [75671282, 75671370], [75671798, 75671826], [75672681, 75672856], [75673047, 75673139], [75673296, 75673516], [75673737, 75673886], [75674533, 75674674], [75675008, 75675157], [75676146, 75677254]] [[75671313, 75671370], [75671798, 75671826], [75672681, 75672856], [75673047, 75673139], [75673296, 75673516], [75673737, 75673886], [75674533, 75674674], [75675008, 75675157], [75676146, 75676323]]
NM_001319191 [[75670858, 75670976], [75671282, 75671370], [75671972, 75672080], [75672681, 75672856], [75673047, 75673139], [75673296, 75673516], [75673737, 75673886], [75674533, 75674674], [75675008, 75675157], [75676146, 75677259]] [[75672746, 75672856], [75673047, 75673139], [75673296, 75673516], [75673737, 75673886], [75674533, 75674674], [75675008, 75675157], [75676146, 75676323]]
NM_002658 [[75670858, 75670976], [75671282, 75671370], [75671798, 75671826], [75671972, 75672080], [75672681, 75672856], [75673047, 75673139], [75673296, 75673516], [75673737, 75673886], [75674533, 75674674], [75675008, 75675157], [75676146, 75677259]] [[75671313, 75671370], [75671798, 75671826], [75671972, 75672080], [75672681, 75672856], [75673047, 75673139], [75673296, 75673516], [75673737, 75673886], [75674533, 75674674], [75675008, 75675157], [75676146, 75676323]]
NM_001145031 [[75670858, 75670976], [75671282, 75671683], [75671972, 75672080], [75672681, 75672856], [75673047, 75673139], [75673296, 75673516], [75673737, 75673886], [75674533, 75674674], [75675008, 75675157], [75676146, 75677259]] [[75671649, 75671683], [75671972, 75672080], [75672681, 75672856], [75673047, 75673139], [75673296, 75673516], [75673737, 75673886], [75674533, 75674674], [75675008, 75675157], [75676146, 75676323]]
Promoter
Chrom Start End Description
chr10 75668916 75668948 CAGE_peak_4_at_PLAU_5end
chr10 75668959 75668983 CAGE_peak_6_at_PLAU_5end
chr10 75670452 75670464 CAGE_peak_15_at_PLAU_5end
chr10 75670497 75670502 CAGE_peak_27_at_PLAU_5end
chr10 75670546 75670555 CAGE_peak_25_at_PLAU_5end
chr10 75670882 75670898 CAGE_peak_1_at_PLAU_5end
chr10 75673436 75673452 CAGE_peak_2_at_PLAU_5end
chr10 75673460 75673478 CAGE_peak_5_at_PLAU_5end
chr10 75674555 75674573 CAGE_peak_7_at_PLAU_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr10 GH10I073918 73918523 73920910 1.04 [{'connected_gene': 'SEC24C', 'score': 14.76}, {'connected_gene': 'ZSWIM8', 'score': 14.32}, {'connected_gene': 'ENSG00000272140', 'score': 13.43}, {'connected_gene': 'ZSWIM8-AS1', 'score': 12.92}, {'connected_gene': 'BMS1P4', 'score': 11.65}, {'connected_gene': 'GLUD1P3', 'score': 11.53}, {'connected_gene': 'DUSP8P5', 'score': 11.01}, {'connected_gene': 'AGAP5', 'score': 10.9}, {'connected_gene': 'CAMK2G', 'score': 10.85}, {'connected_gene': 'ENSG00000229990', 'score': 10.79}, {'connected_gene': 'ENSG00000242288', 'score': 10.6}, {'connected_gene': 'VCL', 'score': 10.57}, {'connected_gene': 'AP3M1', 'score': 10.32}, {'connected_gene': 'NDST2', 'score': 10.23}, {'connected_gene': 'ECD', 'score': 9.97}, {'connected_gene': 'FUT11', 'score': 9.45}, {'connected_gene': 'PPP3CB-AS1', 'score': 4.18}, {'connected_gene': 'C10orf55', 'score': 0.77}, {'connected_gene': 'PLAU', 'score': 0.39}]
chr10 GH10I073886 73886002 73896016 1.71 [{'connected_gene': 'NDST2', 'score': 22.99}, {'connected_gene': 'ENSG00000272791', 'score': 17.97}, {'connected_gene': 'ENSG00000268584', 'score': 17.77}, {'connected_gene': 'AGAP5', 'score': 14.64}, {'connected_gene': 'ENSG00000227540', 'score': 13.46}, {'connected_gene': 'C10orf55', 'score': 12.79}, {'connected_gene': 'FUT11', 'score': 11.99}, {'connected_gene': 'ENSG00000229990', 'score': 11.71}, {'connected_gene': 'ENSG00000272599', 'score': 11.54}, {'connected_gene': 'ENSG00000224195', 'score': 11.33}, {'connected_gene': 'CFAP70', 'score': 10.95}, {'connected_gene': 'ECD', 'score': 10.95}, {'connected_gene': 'VCL', 'score': 10.9}, {'connected_gene': 'DNAJC9-AS1', 'score': 10.83}, {'connected_gene': 'MYOZ1', 'score': 9.13}, {'connected_gene': 'CAMK2G', 'score': 7.68}, {'connected_gene': 'SEC24C', 'score': 6.35}, {'connected_gene': 'DUSP8P5', 'score': 6.22}, {'connected_gene': 'ENSG00000272630', 'score': 4.93}, {'connected_gene': 'ANXA7', 'score': 3.49}, {'connected_gene': 'PLAU', 'score': 0.37}]
chr10 GH10I073991 73991211 73993999 1.38 [{'connected_gene': 'NDST2', 'score': 33.81}, {'connected_gene': 'AP3M1', 'score': 22.27}, {'connected_gene': 'ENSG00000272140', 'score': 22.07}, {'connected_gene': 'BMS1P4', 'score': 21.32}, {'connected_gene': 'ZSWIM8', 'score': 18.35}, {'connected_gene': 'ZSWIM8-AS1', 'score': 15.98}, {'connected_gene': 'SEC24C', 'score': 15.93}, {'connected_gene': 'ECD', 'score': 14.8}, {'connected_gene': 'VCL', 'score': 12.63}, {'connected_gene': 'GLUD1P3', 'score': 11.82}, {'connected_gene': 'AGAP5', 'score': 11.33}, {'connected_gene': 'DUSP8P5', 'score': 11.26}, {'connected_gene': 'ADK', 'score': 10.58}, {'connected_gene': 'PLAU', 'score': 10.48}, {'connected_gene': 'ENSG00000268584', 'score': 9.8}, {'connected_gene': 'ENSG00000242288', 'score': 9.72}, {'connected_gene': 'ENSG00000272791', 'score': 5.57}, {'connected_gene': 'GC10M073941', 'score': 0.23}]
chr10 GH10I073877 73876103 73876252 0.84 [{'connected_gene': 'CAMK2G', 'score': 550.77}, {'connected_gene': 'PLAU', 'score': 0.29}]
chr10 GH10I073955 73955955 73960604 1.47 [{'connected_gene': 'VCL', 'score': 12.31}, {'connected_gene': 'PLAU', 'score': 12.19}, {'connected_gene': 'C10orf55', 'score': 11.98}, {'connected_gene': 'NDST2', 'score': 9.2}, {'connected_gene': 'ADK', 'score': 6.75}, {'connected_gene': 'ANXA7', 'score': 4.21}, {'connected_gene': 'CFAP70', 'score': 4.01}, {'connected_gene': 'FUT11', 'score': 1.22}, {'connected_gene': 'GC10M073941', 'score': 0.37}]
chr10 GH10I073974 73974313 73974746 0.54 [{'connected_gene': 'VCL', 'score': 12.93}, {'connected_gene': 'PLAU', 'score': 11.71}, {'connected_gene': 'C10orf55', 'score': 11.7}, {'connected_gene': 'CAMK2G', 'score': 10.39}, {'connected_gene': 'ENSG00000229990', 'score': 10.35}, {'connected_gene': 'GC10M073941', 'score': 0.29}]
chr10 GH10I073996 73996901 74001634 2.28 [{'connected_gene': 'VCL', 'score': 550.77}, {'connected_gene': 'ECD', 'score': 44.25}, {'connected_gene': 'AP3M1', 'score': 36.47}, {'connected_gene': 'SEC24C', 'score': 34.12}, {'connected_gene': 'ZSWIM8', 'score': 31.48}, {'connected_gene': 'GLUD1P3', 'score': 30.16}, {'connected_gene': 'ZSWIM8-AS1', 'score': 28.54}, {'connected_gene': 'NDST2', 'score': 26.85}, {'connected_gene': 'DUSP8P5', 'score': 21.07}, {'connected_gene': 'RPL17P50', 'score': 20.82}, {'connected_gene': 'ENSG00000242288', 'score': 17.98}, {'connected_gene': 'ENSG00000272140', 'score': 15.89}, {'connected_gene': 'ADK', 'score': 13.33}, {'connected_gene': 'BMS1P4', 'score': 12.95}, {'connected_gene': 'ENSG00000268584', 'score': 12.0}, {'connected_gene': 'AGAP5', 'score': 11.2}, {'connected_gene': 'KAT6B', 'score': 10.9}, {'connected_gene': 'CAMK2G', 'score': 10.51}, {'connected_gene': 'C10orf55', 'score': 10.31}, {'connected_gene': 'PLAU', 'score': 5.29}, {'connected_gene': 'ENSG00000225761', 'score': 0.44}]
chr10 GH10I073644 73644001 73644652 1.21 [{'connected_gene': 'MYOZ1', 'score': 21.45}, {'connected_gene': 'VCL', 'score': 11.91}, {'connected_gene': 'PLAU', 'score': 10.37}, {'connected_gene': 'NUDT13', 'score': 6.06}, {'connected_gene': 'LOC105378360', 'score': 0.44}, {'connected_gene': 'GC10P073609', 'score': 0.28}]
chr10 GH10I073876 73876266 73877772 0.89 [{'connected_gene': 'MYOZ1', 'score': 11.9}, {'connected_gene': 'FUT11', 'score': 11.27}, {'connected_gene': 'CAMK2G', 'score': 0.77}, {'connected_gene': 'PLAU', 'score': 0.29}]
chr10 GH10I073905 73905242 73916009 2.75 [{'connected_gene': 'PLAU', 'score': 550.77}, {'connected_gene': 'CAMK2G', 'score': 10.88}, {'connected_gene': 'ENSG00000229990', 'score': 10.81}, {'connected_gene': 'VCL', 'score': 10.56}, {'connected_gene': 'FUT11', 'score': 9.92}, {'connected_gene': 'NDST2', 'score': 7.05}, {'connected_gene': 'SEC24C', 'score': 6.62}, {'connected_gene': 'CFAP70', 'score': 6.16}, {'connected_gene': 'ZSWIM8-AS1', 'score': 5.58}, {'connected_gene': 'NUDT13', 'score': 5.29}, {'connected_gene': 'MYOZ1', 'score': 4.93}, {'connected_gene': 'ANXA7', 'score': 2.09}, {'connected_gene': 'C10orf55', 'score': 0.39}]
chr10 GH10I074069 74069980 74073972 0.62 [{'connected_gene': 'PLAU', 'score': 11.67}, {'connected_gene': 'C10orf55', 'score': 11.33}, {'connected_gene': 'VCL', 'score': 11.07}, {'connected_gene': 'CAMK2G', 'score': 10.92}, {'connected_gene': 'ENSG00000229990', 'score': 10.35}, {'connected_gene': 'ADK', 'score': 7.46}, {'connected_gene': 'GC10P074056', 'score': 0.37}, {'connected_gene': 'GC10M074121', 'score': 0.25}]
chr10 GH10I073878 73878926 73880304 1.69 [{'connected_gene': 'PLAU', 'score': 12.4}, {'connected_gene': 'ENSG00000229990', 'score': 12.11}, {'connected_gene': 'C10orf55', 'score': 11.98}, {'connected_gene': 'VCL', 'score': 11.2}, {'connected_gene': 'MYOZ1', 'score': 10.55}, {'connected_gene': 'FUT11', 'score': 6.64}, {'connected_gene': 'NDST2', 'score': 5.39}, {'connected_gene': 'CAMK2G', 'score': 0.44}]
chr10 GH10I073916 73916197 73917857 1.56 [{'connected_gene': 'C10orf55', 'score': 550.44}, {'connected_gene': 'CAMK2G', 'score': 10.86}, {'connected_gene': 'ENSG00000229990', 'score': 10.79}, {'connected_gene': 'VCL', 'score': 10.57}, {'connected_gene': 'FUT11', 'score': 9.8}, {'connected_gene': 'PLAU', 'score': 0.44}]
chr10 GH10I073922 73922103 73922252 0.49 [{'connected_gene': 'C10orf55', 'score': 550.77}, {'connected_gene': 'PLAU', 'score': 0.39}]
chr10 GH10I073964 73964099 73970299 2.07 [{'connected_gene': 'GLUD1P3', 'score': 16.84}, {'connected_gene': 'RPL17P50', 'score': 15.5}, {'connected_gene': 'DUSP8P5', 'score': 15.11}, {'connected_gene': 'DNAJC9', 'score': 14.97}, {'connected_gene': 'ADK', 'score': 13.78}, {'connected_gene': 'AP3M1', 'score': 13.12}, {'connected_gene': 'VCL', 'score': 12.91}, {'connected_gene': 'ENSG00000272140', 'score': 12.56}, {'connected_gene': 'PLAU', 'score': 12.33}, {'connected_gene': 'ECD', 'score': 11.75}, {'connected_gene': 'C10orf55', 'score': 11.73}, {'connected_gene': 'KAT6B', 'score': 11.45}, {'connected_gene': 'SEC24C', 'score': 11.11}, {'connected_gene': 'BMS1P4', 'score': 11.08}, {'connected_gene': 'CAMK2G', 'score': 11.04}, {'connected_gene': 'ENSG00000229990', 'score': 10.51}, {'connected_gene': 'ENSG00000242288', 'score': 9.95}, {'connected_gene': 'RPL26P6', 'score': 9.69}, {'connected_gene': 'ANXA7', 'score': 5.21}, {'connected_gene': 'LOC105378360', 'score': 4.62}, {'connected_gene': 'CFAP70', 'score': 4.48}, {'connected_gene': 'GC10M073941', 'score': 0.31}]
chr10 GH10I073729 73729400 73732307 1.61 [{'connected_gene': 'GLUD1P3', 'score': 550.77}, {'connected_gene': 'DUSP8P5', 'score': 550.77}, {'connected_gene': 'ENSG00000242288', 'score': 550.77}, {'connected_gene': 'ENSG00000271816', 'score': 550.77}, {'connected_gene': 'BMS1P4', 'score': 550.77}, {'connected_gene': 'FUT11', 'score': 17.63}, {'connected_gene': 'VCL', 'score': 11.92}, {'connected_gene': 'FAM149B1', 'score': 11.5}, {'connected_gene': 'PLAU', 'score': 10.4}, {'connected_gene': 'ENSG00000224195', 'score': 10.05}, {'connected_gene': 'EIF4A2P2', 'score': 9.95}]
chr10 GH10I073109 73109863 73112251 2.09 [{'connected_gene': 'NUDT13', 'score': 585.27}, {'connected_gene': 'ZSWIM8', 'score': 29.77}, {'connected_gene': 'NDST2', 'score': 27.51}, {'connected_gene': 'DNAJB12', 'score': 27.05}, {'connected_gene': 'SEC24C', 'score': 27.01}, {'connected_gene': 'ZSWIM8-AS1', 'score': 26.23}, {'connected_gene': 'CFAP70', 'score': 15.48}, {'connected_gene': 'DNAJC9', 'score': 15.06}, {'connected_gene': 'ECD', 'score': 15.0}, {'connected_gene': 'ENSG00000272140', 'score': 13.41}, {'connected_gene': 'VCL', 'score': 11.88}, {'connected_gene': 'GLUD1P3', 'score': 11.78}, {'connected_gene': 'AGAP5', 'score': 11.3}, {'connected_gene': 'DUSP8P5', 'score': 11.22}, {'connected_gene': 'BMS1P4', 'score': 11.08}, {'connected_gene': 'PLAU', 'score': 10.33}, {'connected_gene': 'ENSG00000268584', 'score': 9.78}, {'connected_gene': 'RPL26P6', 'score': 9.72}, {'connected_gene': 'ENSG00000242288', 'score': 9.69}, {'connected_gene': 'GC10M073125', 'score': 0.39}]
chr10 GH10I074823 74823235 74828372 2.13 [{'connected_gene': 'KAT6B', 'score': 612.1}, {'connected_gene': 'AP3M1', 'score': 79.88}, {'connected_gene': 'VCL', 'score': 11.88}, {'connected_gene': 'PLAU', 'score': 10.33}, {'connected_gene': 'LOC101929165', 'score': 0.17}]
chr10 GH10I074020 74020385 74022435 1.39 [{'connected_gene': 'ADK', 'score': 17.34}, {'connected_gene': 'VCL', 'score': 12.41}, {'connected_gene': 'C10orf55', 'score': 11.15}, {'connected_gene': 'PLAU', 'score': 11.03}, {'connected_gene': 'CAMK2G', 'score': 10.49}, {'connected_gene': 'ENSG00000229990', 'score': 10.47}, {'connected_gene': 'ENSG00000225761', 'score': 0.37}, {'connected_gene': 'GC10P074056', 'score': 0.28}]
chr10 GH10I074149 74149610 74152824 2.29 [{'connected_gene': 'ADK', 'score': 567.16}, {'connected_gene': 'AP3M1', 'score': 564.51}, {'connected_gene': 'EIF4A2P2', 'score': 19.35}, {'connected_gene': 'SEC24C', 'score': 16.73}, {'connected_gene': 'ENSG00000272140', 'score': 15.87}, {'connected_gene': 'NDST2', 'score': 14.64}, {'connected_gene': 'ZSWIM8', 'score': 13.91}, {'connected_gene': 'GLUD1P3', 'score': 13.68}, {'connected_gene': 'DUSP8P5', 'score': 13.14}, {'connected_gene': 'BMS1P4', 'score': 12.93}, {'connected_gene': 'VCL', 'score': 11.96}, {'connected_gene': 'ECD', 'score': 11.16}, {'connected_gene': 'ENSG00000224195', 'score': 11.07}, {'connected_gene': 'CAMK2G', 'score': 10.41}, {'connected_gene': 'PLAU', 'score': 10.37}, {'connected_gene': 'ZSWIM8-AS1', 'score': 10.08}, {'connected_gene': 'KAT6B', 'score': 9.71}, {'connected_gene': 'ENSG00000242288', 'score': 9.68}, {'connected_gene': 'GC10P074285', 'score': 0.12}]
chr10 GH10I073166 73166807 73169201 2.09 [{'connected_gene': 'ECD', 'score': 563.53}, {'connected_gene': 'FAM149B1', 'score': 550.77}, {'connected_gene': 'NUDT13', 'score': 33.54}, {'connected_gene': 'NDST2', 'score': 14.04}, {'connected_gene': 'AP3M1', 'score': 12.04}, {'connected_gene': 'VCL', 'score': 11.88}, {'connected_gene': 'ZSWIM8', 'score': 11.42}, {'connected_gene': 'DNAJB12', 'score': 10.82}, {'connected_gene': 'SEC24C', 'score': 10.81}, {'connected_gene': 'PLAU', 'score': 10.33}, {'connected_gene': 'SNORA11F', 'score': 0.26}]
chr10 GH10I073897 73897938 73900559 1.28 [{'connected_gene': 'DUSP8P5', 'score': 18.06}, {'connected_gene': 'AGAP5', 'score': 16.77}, {'connected_gene': 'GLUD1P3', 'score': 13.71}, {'connected_gene': 'ECD', 'score': 13.52}, {'connected_gene': 'ENSG00000272791', 'score': 13.03}, {'connected_gene': 'ENSG00000272140', 'score': 12.36}, {'connected_gene': 'ZSWIM8', 'score': 12.08}, {'connected_gene': 'FUT11', 'score': 12.01}, {'connected_gene': 'ENSG00000272599', 'score': 11.71}, {'connected_gene': 'KAT6B', 'score': 11.49}, {'connected_gene': 'ENSG00000268584', 'score': 10.97}, {'connected_gene': 'SEC24C', 'score': 10.66}, {'connected_gene': 'ENSG00000227540', 'score': 9.77}, {'connected_gene': 'NDST2', 'score': 1.55}, {'connected_gene': 'PLAU', 'score': 0.44}, {'connected_gene': 'CAMK2G', 'score': 0.34}]
chr10 GH10I073903 73903265 73904727 0.43 [{'connected_gene': 'DUSP8P5', 'score': 5.73}, {'connected_gene': 'MYOZ1', 'score': 5.58}, {'connected_gene': 'PLAU', 'score': 0.44}, {'connected_gene': 'CAMK2G', 'score': 0.31}]
chr10 GH10I074003 74003923 74005036 0.49 [{'connected_gene': 'ENSG00000225761', 'score': 550.77}, {'connected_gene': 'C10orf55', 'score': 11.25}, {'connected_gene': 'CAMK2G', 'score': 10.51}, {'connected_gene': 'PLAU', 'score': 5.02}, {'connected_gene': 'VCL', 'score': 0.44}]

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