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
ENST00000462445 [[70847861, 70847992], [70863626, 70864297]] None
ENST00000242465 [[70847873, 70847992], [70856839, 70856987], [70863626, 70864567]] [[70847913, 70847992], [70856839, 70856987], [70863626, 70863876]]
NM_001321053 [[70847201, 70847416], [70847783, 70847992], [70856839, 70856987], [70863626, 70864567]] [[70847913, 70847992], [70856839, 70856987], [70863626, 70863876]]
NM_001321054 [[70847783, 70847992], [70863626, 70864567]] [[70847933, 70847992], [70863626, 70863876]]
NM_002727 [[70847783, 70847992], [70856839, 70856987], [70863626, 70864567]] [[70847913, 70847992], [70856839, 70856987], [70863626, 70863876]]
Promoter
Chrom Start End Description
chr10 70847334 70847349 CAGE_peak_9_at_SRGN_5end
chr10 70847352 70847365 CAGE_peak_6_at_SRGN_5end
chr10 70847386 70847398 CAGE_peak_7_at_SRGN_5end
chr10 70847852 70847873 CAGE_peak_1_at_SRGN_5end
chr10 70848335 70848349 CAGE_peak_10_at_SRGN_5end
chr10 70856830 70856850 CAGE_peak_4_at_SRGN_5end
chr10 70856852 70856880 CAGE_peak_2_at_SRGN_5end
chr10 70856882 70856896 CAGE_peak_8_at_SRGN_5end
chr10 70856916 70856937 CAGE_peak_5_at_SRGN_5end
chr10 70856940 70856962 CAGE_peak_3_at_SRGN_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr10 GH10I069122 69122877 69126020 2.33 [{'connected_gene': 'VPS26A', 'score': 555.64}, {'connected_gene': 'CCAR1', 'score': 35.45}, {'connected_gene': 'DDX50', 'score': 28.46}, {'connected_gene': 'HNRNPH3', 'score': 24.47}, {'connected_gene': 'RPL26P27', 'score': 19.06}, {'connected_gene': 'SUPV3L1', 'score': 13.09}, {'connected_gene': 'LOC101928994', 'score': 4.92}, {'connected_gene': 'HKDC1', 'score': 4.49}, {'connected_gene': 'SRGN', 'score': 2.06}, {'connected_gene': 'DDX21', 'score': 1.4}, {'connected_gene': 'GC10P069154', 'score': 0.31}, {'connected_gene': 'GC10P069153', 'score': 0.31}, {'connected_gene': 'GC10P069071', 'score': 0.23}]
chr10 GH10I068998 68997401 68997600 0.54 [{'connected_gene': 'VPS26A', 'score': 12.17}, {'connected_gene': 'SRGN', 'score': 11.68}, {'connected_gene': 'HKDC1', 'score': 10.49}, {'connected_gene': 'KIF1BP', 'score': 0.44}, {'connected_gene': 'MED28P1', 'score': 0.44}, {'connected_gene': 'ACTBP14', 'score': 0.31}]
chr10 GH10I068997 68997785 68997934 0.56 [{'connected_gene': 'VPS26A', 'score': 12.17}, {'connected_gene': 'SRGN', 'score': 11.68}, {'connected_gene': 'HKDC1', 'score': 10.49}, {'connected_gene': 'KIF1BP', 'score': 0.44}, {'connected_gene': 'MED28P1', 'score': 0.44}, {'connected_gene': 'ACTBP14', 'score': 0.34}]
chr10 GH10I069146 69146885 69147034 0.6 [{'connected_gene': 'VPS26A', 'score': 12.38}, {'connected_gene': 'SRGN', 'score': 11.29}, {'connected_gene': 'HKDC1', 'score': 10.19}, {'connected_gene': 'ENSG00000231748', 'score': 10.05}, {'connected_gene': 'HK1', 'score': 10.05}, {'connected_gene': 'GC10P069154', 'score': 0.44}, {'connected_gene': 'GC10P069153', 'score': 0.44}, {'connected_gene': 'GC10P069071', 'score': 0.18}]
chr10 GH10I069213 69213435 69218702 1.69 [{'connected_gene': 'HKDC1', 'score': 14.1}, {'connected_gene': 'LOC102723350', 'score': 9.95}, {'connected_gene': 'ENSG00000231748', 'score': 9.85}, {'connected_gene': 'HK1', 'score': 9.85}, {'connected_gene': 'TYSND1', 'score': 9.73}, {'connected_gene': 'SUPV3L1', 'score': 8.3}, {'connected_gene': 'SRGN', 'score': 6.58}, {'connected_gene': 'VPS26A', 'score': 2.18}, {'connected_gene': 'DDX21', 'score': 1.45}, {'connected_gene': 'LOC101928994', 'score': 0.37}]
chr10 GH10I069095 69094948 69097186 1.07 [{'connected_gene': 'PBLD', 'score': 5.71}, {'connected_gene': 'SUPV3L1', 'score': 5.31}, {'connected_gene': 'STOX1', 'score': 4.65}, {'connected_gene': 'HKDC1', 'score': 4.22}, {'connected_gene': 'ENSG00000274008', 'score': 0.77}, {'connected_gene': 'GC10P069089', 'score': 0.44}, {'connected_gene': 'SRGN', 'score': 0.44}, {'connected_gene': 'GC10P069090', 'score': 0.44}, {'connected_gene': 'GC10P069071', 'score': 0.34}]
chr10 GH10I069407 69407665 69411425 1.96 [{'connected_gene': 'CCAR1', 'score': 23.43}, {'connected_gene': 'DDX50', 'score': 17.46}, {'connected_gene': 'TACR2', 'score': 12.12}, {'connected_gene': 'HK1', 'score': 11.82}, {'connected_gene': 'SAR1A', 'score': 11.33}, {'connected_gene': 'HKDC1', 'score': 10.95}, {'connected_gene': 'ENSG00000231748', 'score': 10.51}, {'connected_gene': 'RPL26P27', 'score': 9.79}, {'connected_gene': 'TSPAN15', 'score': 7.52}, {'connected_gene': 'SRGN', 'score': 3.17}, {'connected_gene': 'VPS26A', 'score': 1.62}, {'connected_gene': 'RPS15AP28', 'score': 0.14}]
chr10 GH10I069059 69059602 69063350 1.7 [{'connected_gene': 'CCAR1', 'score': 17.2}, {'connected_gene': 'SRGN', 'score': 16.12}, {'connected_gene': 'HNRNPH3', 'score': 13.73}, {'connected_gene': 'HERC4', 'score': 12.93}, {'connected_gene': 'DDX50', 'score': 12.45}, {'connected_gene': 'SUPV3L1', 'score': 12.18}, {'connected_gene': 'KIF1BP', 'score': 11.79}, {'connected_gene': 'VPS26A', 'score': 4.59}, {'connected_gene': 'DDX21', 'score': 1.58}, {'connected_gene': 'GC10P069071', 'score': 0.39}, {'connected_gene': 'GC10P069047', 'score': 0.39}]
chr10 GH10I069412 69412476 69412729 0.42 [{'connected_gene': 'SRGN', 'score': 2.48}, {'connected_gene': 'VPS26A', 'score': 1.79}, {'connected_gene': 'TACR2', 'score': 0.77}, {'connected_gene': 'RPS15AP28', 'score': 0.14}]
chr10 GH10I069004 69004945 69005094 0.6 [{'connected_gene': 'SRGN', 'score': 12.25}, {'connected_gene': 'VPS26A', 'score': 11.84}, {'connected_gene': 'DDX21', 'score': 11.22}, {'connected_gene': 'MED28P1', 'score': 0.39}, {'connected_gene': 'ACTBP14', 'score': 0.37}, {'connected_gene': 'KIF1BP', 'score': 0.37}]
chr10 GH10I069085 69085650 69094386 2.57 [{'connected_gene': 'SRGN', 'score': 562.23}, {'connected_gene': 'GC10P069089', 'score': 550.77}, {'connected_gene': 'GC10P069090', 'score': 550.77}, {'connected_gene': 'DDX50', 'score': 20.9}, {'connected_gene': 'DDX21', 'score': 14.65}, {'connected_gene': 'SUPV3L1', 'score': 6.36}, {'connected_gene': 'HKDC1', 'score': 6.35}, {'connected_gene': 'PBLD', 'score': 5.81}, {'connected_gene': 'LOC101928994', 'score': 5.3}, {'connected_gene': 'TACR2', 'score': 4.4}, {'connected_gene': 'VPS26A', 'score': 1.84}, {'connected_gene': 'GC10M069086', 'score': 0.77}, {'connected_gene': 'GC10M069087', 'score': 0.77}, {'connected_gene': 'ENSG00000274008', 'score': 0.44}, {'connected_gene': 'GC10P069071', 'score': 0.37}]
chr10 GH10I069055 69055566 69059200 1.54 [{'connected_gene': 'SRGN', 'score': 12.88}, {'connected_gene': 'KIF1BP', 'score': 9.13}, {'connected_gene': 'DDX21', 'score': 1.35}, {'connected_gene': 'GC10P069047', 'score': 0.44}, {'connected_gene': 'GC10P069071', 'score': 0.39}]
chr10 GH10I069012 69012945 69013094 0.2 [{'connected_gene': 'SRGN', 'score': 12.38}, {'connected_gene': 'KIF1BP', 'score': 11.74}, {'connected_gene': 'MED28P1', 'score': 11.74}, {'connected_gene': 'VPS26A', 'score': 11.49}, {'connected_gene': 'ACTBP14', 'score': 0.44}]
chr10 GH10I069027 69027525 69028186 0.54 [{'connected_gene': 'SRGN', 'score': 12.33}, {'connected_gene': 'KIF1BP', 'score': 11.84}, {'connected_gene': 'MED28P1', 'score': 11.84}, {'connected_gene': 'VPS26A', 'score': 11.54}, {'connected_gene': 'STOX1', 'score': 8.64}, {'connected_gene': 'ACTBP14', 'score': 0.44}, {'connected_gene': 'GC10M069014', 'score': 0.37}]
chr10 GH10I069014 69014285 69014434 0.31 [{'connected_gene': 'SRGN', 'score': 12.16}, {'connected_gene': 'MED28P1', 'score': 11.0}, {'connected_gene': 'KIF1BP', 'score': 10.97}, {'connected_gene': 'VPS26A', 'score': 10.6}, {'connected_gene': 'ACTBP14', 'score': 0.44}, {'connected_gene': 'GC10M069014', 'score': 0.31}]
chr10 GH10I069031 69031601 69031800 0.2 [{'connected_gene': 'SRGN', 'score': 12.09}, {'connected_gene': 'MED28P1', 'score': 10.82}, {'connected_gene': 'KIF1BP', 'score': 10.82}, {'connected_gene': 'VPS26A', 'score': 10.76}, {'connected_gene': 'ENSG00000231748', 'score': 9.03}, {'connected_gene': 'HK1', 'score': 9.03}, {'connected_gene': 'ACTBP14', 'score': 0.44}, {'connected_gene': 'GC10M069014', 'score': 0.39}]
chr10 GH10I069353 69353916 69354696 0.74 [{'connected_gene': 'SRGN', 'score': 1.6}, {'connected_gene': 'RPS15AP28', 'score': 0.23}, {'connected_gene': 'TACR2', 'score': 0.21}, {'connected_gene': 'HK1', 'score': 0.18}]
chr10 GH10I069023 69023133 69023257 0.4 [{'connected_gene': 'ACTBP14', 'score': 550.77}, {'connected_gene': 'SRGN', 'score': 12.61}, {'connected_gene': 'GC10M069014', 'score': 0.37}, {'connected_gene': 'KIF1BP', 'score': 0.29}]
chr10 GH10I069064 69064001 69066799 1.49 [{'connected_gene': 'KIF1BP', 'score': 17.39}, {'connected_gene': 'SRGN', 'score': 11.14}, {'connected_gene': 'MED28P1', 'score': 10.52}, {'connected_gene': 'LOC101928994', 'score': 4.87}, {'connected_gene': 'HK1', 'score': 2.27}, {'connected_gene': 'VPS26A', 'score': 2.09}, {'connected_gene': 'GC10P069071', 'score': 0.44}, {'connected_gene': 'GC10P069047', 'score': 0.37}]
chr10 GH10I069100 69100530 69103441 1 [{'connected_gene': 'KIF1BP', 'score': 10.65}, {'connected_gene': 'MED28P1', 'score': 10.65}, {'connected_gene': 'VPS26A', 'score': 6.72}, {'connected_gene': 'SUPV3L1', 'score': 5.1}, {'connected_gene': 'ENSG00000274008', 'score': 0.77}, {'connected_gene': 'GC10P069106', 'score': 0.77}, {'connected_gene': 'SRGN', 'score': 0.39}, {'connected_gene': 'GC10P069071', 'score': 0.29}]
chr10 GH10I069872 69872038 69875303 0.4 [{'connected_gene': 'COL13A1', 'score': 11.31}, {'connected_gene': 'FAM241B', 'score': 10.08}, {'connected_gene': 'SRGN', 'score': 4.92}, {'connected_gene': 'LOC105378347', 'score': 0.23}, {'connected_gene': 'LOC102723350', 'score': 0.11}]
chr10 GH10I068991 68991801 68993907 0.74 [{'connected_gene': 'MED28P1', 'score': 550.77}, {'connected_gene': 'KIF1BP', 'score': 57.4}, {'connected_gene': 'SRGN', 'score': 11.99}, {'connected_gene': 'DDX21', 'score': 11.61}, {'connected_gene': 'VPS26A', 'score': 11.26}, {'connected_gene': 'HKDC1', 'score': 10.66}, {'connected_gene': 'ACTBP14', 'score': 0.31}]
chr10 GH10I068977 68976268 68976628 0.5 [{'connected_gene': 'MIR1254-1', 'score': 10.12}, {'connected_gene': 'CCAR1', 'score': 10.11}, {'connected_gene': 'SRGN', 'score': 2.03}, {'connected_gene': 'GC10M068939', 'score': 0.44}, {'connected_gene': 'KIF1BP', 'score': 0.39}, {'connected_gene': 'DDX21', 'score': 0.34}]
chr10 GH10I069101 69100165 69100314 0.51 [{'connected_gene': 'ENSG00000274008', 'score': 550.77}, {'connected_gene': 'HKDC1', 'score': 5.71}, {'connected_gene': 'LOC101928994', 'score': 4.58}, {'connected_gene': 'GC10P069106', 'score': 0.44}, {'connected_gene': 'SRGN', 'score': 0.39}, {'connected_gene': 'GC10P069071', 'score': 0.31}]
chr10 GH10I069070 69070838 69071007 0.69 [{'connected_gene': 'GC10P069071', 'score': 550.77}, {'connected_gene': 'SRGN', 'score': 13.7}, {'connected_gene': 'VPS26A', 'score': 2.31}, {'connected_gene': 'DDX21', 'score': 1.47}, {'connected_gene': 'GC10P069047', 'score': 0.34}]
chr10 GH10I069043 69043652 69055158 1.6 [{'connected_gene': 'GC10P069047', 'score': 550.77}, {'connected_gene': 'SRGN', 'score': 32.03}, {'connected_gene': 'VPS26A', 'score': 13.28}, {'connected_gene': 'KIF1BP', 'score': 12.5}, {'connected_gene': 'HKDC1', 'score': 4.93}, {'connected_gene': 'DDX21', 'score': 1.91}, {'connected_gene': 'HK1', 'score': 1.14}, {'connected_gene': 'LOC105378342', 'score': 0.77}, {'connected_gene': 'GC10M069045', 'score': 0.77}, {'connected_gene': 'GC10P069071', 'score': 0.34}]
chr10 GH10I069072 69072858 69074273 0.96 [{'connected_gene': 'GC10P069071', 'score': 550.77}, {'connected_gene': 'SRGN', 'score': 6.65}, {'connected_gene': 'DDX21', 'score': 1.56}, {'connected_gene': 'GC10M069087', 'score': 0.39}]
chr10 GH10I069094 69094601 69094854 0.71 [{'connected_gene': 'ENSG00000274008', 'score': 0.77}, {'connected_gene': 'GC10P069089', 'score': 0.44}, {'connected_gene': 'SRGN', 'score': 0.44}, {'connected_gene': 'GC10P069090', 'score': 0.44}, {'connected_gene': 'GC10P069071', 'score': 0.34}]
chr10 GH10I069104 69104669 69106074 0.57 [{'connected_gene': 'GC10P069107', 'score': 550.77}, {'connected_gene': 'GC10P069106', 'score': 550.77}, {'connected_gene': 'MED28P1', 'score': 11.38}, {'connected_gene': 'KIF1BP', 'score': 11.37}, {'connected_gene': 'SUPV3L1', 'score': 4.98}, {'connected_gene': 'ENSG00000274008', 'score': 0.44}, {'connected_gene': 'SRGN', 'score': 0.37}, {'connected_gene': 'GC10P069071', 'score': 0.29}]

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