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
ENST00000359655 [[70939987, 70940318], [70945742, 70945820], [70946198, 70946306], [70947397, 70947512], [70949022, 70949191], [70951410, 70951522], [70954943, 70955021], [70956747, 70956839], [70958127, 70958308], [70958859, 70958953], [70960035, 70960255], [70962194, 70962275], [70962622, 70962799], [70967548, 70967697], [70968355, 70968854]] [[70940047, 70940318], [70945742, 70945820], [70946198, 70946306], [70947397, 70947512], [70949022, 70949191], [70951410, 70951522], [70954943, 70955021], [70956747, 70956839], [70958127, 70958308], [70958859, 70958953], [70960035, 70960255], [70962194, 70962275], [70962622, 70962799], [70967548, 70967697], [70968355, 70968791]]
ENST00000471069 [[70940005, 70940318], [70945742, 70945820], [70946198, 70946306], [70947397, 70947512], [70949022, 70949191], [70951410, 70953019]] None
ENST00000483572 [[70940036, 70940318], [70942275, 70942410], [70945742, 70945820], [70946198, 70946306], [70947397, 70947512], [70949022, 70949191], [70951410, 70951522], [70954943, 70954969]] None
ENST00000422378 [[70940043, 70940318], [70954943, 70955021], [70956747, 70956839], [70958127, 70958308], [70958859, 70958953], [70960035, 70960109]] [[70940047, 70940318], [70954943, 70955021], [70956747, 70956839], [70958127, 70958308], [70958859, 70958953], [70960035, 70960109]]
ENST00000478227 [[70947188, 70947222], [70947397, 70947512], [70949022, 70949191], [70951410, 70951522], [70954943, 70955021], [70956747, 70956836]] None
ENST00000486661 [[70947468, 70947512], [70949022, 70949191], [70951410, 70951522], [70954943, 70955136]] None
ENST00000497254 [[70967531, 70967697], [70968355, 70968855]] None
NM_001323587 [[70939959, 70940318], [70945742, 70945820], [70946198, 70946306], [70947397, 70947512], [70949022, 70949191], [70951410, 70951522], [70956747, 70956839], [70958127, 70958308], [70958859, 70958953], [70960035, 70960255], [70962194, 70962275], [70962622, 70962799], [70967548, 70967697], [70968355, 70968854]] [[70956803, 70956839], [70958127, 70958308], [70958859, 70958953], [70960035, 70960255], [70962194, 70962275], [70962622, 70962799], [70967548, 70967697], [70968355, 70968791]]
NR_136626 [[70939959, 70940318], [70945742, 70945820], [70946198, 70946306], [70947397, 70947512], [70949022, 70949191], [70951410, 70951522], [70954943, 70955021], [70956747, 70956839], [70958127, 70958308], [70958859, 70958953], [70960035, 70960255], [70962194, 70962275], [70962698, 70962799], [70967548, 70967697], [70968355, 70968854]] None
NM_003171 [[70939959, 70940318], [70945742, 70945820], [70946198, 70946306], [70947397, 70947512], [70949022, 70949191], [70951410, 70951522], [70954943, 70955021], [70956747, 70956839], [70958127, 70958308], [70958859, 70958953], [70960035, 70960255], [70962194, 70962275], [70962622, 70962799], [70967548, 70967697], [70968355, 70968854]] [[70940047, 70940318], [70945742, 70945820], [70946198, 70946306], [70947397, 70947512], [70949022, 70949191], [70951410, 70951522], [70954943, 70955021], [70956747, 70956839], [70958127, 70958308], [70958859, 70958953], [70960035, 70960255], [70962194, 70962275], [70962622, 70962799], [70967548, 70967697], [70968355, 70968791]]
NM_001323586 [[70939959, 70940318], [70945742, 70945820], [70946198, 70946306], [70947149, 70947222], [70947397, 70947512], [70949022, 70949191], [70951410, 70951522], [70954943, 70955021], [70956747, 70956839], [70958127, 70958308], [70958859, 70958953], [70960035, 70960255], [70962194, 70962275], [70962622, 70962799], [70967548, 70967697], [70968355, 70968854]] [[70946285, 70946306], [70947149, 70947222], [70947397, 70947512], [70949022, 70949191], [70951410, 70951522], [70954943, 70955021], [70956747, 70956839], [70958127, 70958308], [70958859, 70958953], [70960035, 70960255], [70962194, 70962275], [70962622, 70962799], [70967548, 70967697], [70968355, 70968791]]
NM_001323588 [[70939959, 70940318], [70945694, 70945820], [70946198, 70946306], [70947397, 70947512], [70949022, 70949191], [70951410, 70951522], [70956747, 70956839], [70958127, 70958308], [70958859, 70958953], [70960035, 70960255], [70962194, 70962275], [70962622, 70962799], [70967548, 70967697], [70968355, 70968854]] [[70956803, 70956839], [70958127, 70958308], [70958859, 70958953], [70960035, 70960255], [70962194, 70962275], [70962622, 70962799], [70967548, 70967697], [70968355, 70968791]]
NM_001323584 [[70939959, 70940318], [70945694, 70945820], [70946198, 70946306], [70947397, 70947512], [70949022, 70949191], [70951410, 70951522], [70954943, 70955021], [70956747, 70956839], [70958127, 70958308], [70958859, 70958953], [70960035, 70960255], [70962194, 70962275], [70962622, 70962799], [70967548, 70967697], [70968355, 70968854]] [[70946242, 70946306], [70947397, 70947512], [70949022, 70949191], [70951410, 70951522], [70954943, 70955021], [70956747, 70956839], [70958127, 70958308], [70958859, 70958953], [70960035, 70960255], [70962194, 70962275], [70962622, 70962799], [70967548, 70967697], [70968355, 70968791]]
NR_136627 [[70939959, 70940318], [70942275, 70942410], [70945742, 70945820], [70946198, 70946306], [70947397, 70947512], [70949022, 70949191], [70951410, 70951522], [70954943, 70955021], [70956747, 70956839], [70958127, 70958308], [70958859, 70958953], [70960035, 70960255], [70962194, 70962275], [70962698, 70962799], [70967548, 70967697], [70968355, 70968854]] None
NM_001301683 [[70939959, 70940318], [70942275, 70942410], [70945742, 70945820], [70946198, 70946306], [70947397, 70947512], [70949022, 70949191], [70951410, 70951522], [70954943, 70955021], [70956747, 70956839], [70958127, 70958308], [70958859, 70958953], [70960035, 70960255], [70962194, 70962275], [70962622, 70962799], [70967548, 70967697], [70968355, 70968854]] [[70946242, 70946306], [70947397, 70947512], [70949022, 70949191], [70951410, 70951522], [70954943, 70955021], [70956747, 70956839], [70958127, 70958308], [70958859, 70958953], [70960035, 70960255], [70962194, 70962275], [70962622, 70962799], [70967548, 70967697], [70968355, 70968791]]
NM_001323585 [[70939959, 70940318], [70942275, 70942410], [70945742, 70945820], [70946198, 70946306], [70947149, 70947222], [70947397, 70947512], [70949022, 70949191], [70951410, 70951522], [70954943, 70955021], [70956747, 70956839], [70958127, 70958308], [70958859, 70958953], [70960035, 70960255], [70962194, 70962275], [70962622, 70962799], [70967548, 70967697], [70968355, 70968854]] [[70946285, 70946306], [70947149, 70947222], [70947397, 70947512], [70949022, 70949191], [70951410, 70951522], [70954943, 70955021], [70956747, 70956839], [70958127, 70958308], [70958859, 70958953], [70960035, 70960255], [70962194, 70962275], [70962622, 70962799], [70967548, 70967697], [70968355, 70968791]]
Promoter
Chrom Start End Description
chr10 70939597 70939609 CAGE_peak_3_at_SUPV3L1_5end
chr10 70939610 70939627 CAGE_peak_2_at_SUPV3L1_5end
chr10 70939983 70940040 CAGE_peak_1_at_SUPV3L1_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 GH10I069209 69209598 69211095 0.62 [{'connected_gene': 'VPS26A', 'score': 11.52}, {'connected_gene': 'HK1', 'score': 10.7}, {'connected_gene': 'ENSG00000231748', 'score': 10.7}, {'connected_gene': 'SUPV3L1', 'score': 6.57}, {'connected_gene': 'HKDC1', 'score': 5.81}, {'connected_gene': 'LOC101928994', 'score': 5.06}]
chr10 GH10I068526 68526176 68528415 2.1 [{'connected_gene': 'SLC25A16', 'score': 558.75}, {'connected_gene': 'DDX50', 'score': 34.02}, {'connected_gene': 'DNA2', 'score': 29.84}, {'connected_gene': 'CCAR1', 'score': 27.76}, {'connected_gene': 'HNRNPH3', 'score': 23.88}, {'connected_gene': 'HERC4', 'score': 23.84}, {'connected_gene': 'SIRT1', 'score': 20.89}, {'connected_gene': 'RPL26P27', 'score': 14.33}, {'connected_gene': 'SUPV3L1', 'score': 12.09}, {'connected_gene': 'MIR1254-1', 'score': 11.5}, {'connected_gene': 'TET1', 'score': 10.83}, {'connected_gene': 'DDX21', 'score': 9.7}, {'connected_gene': 'ENSG00000207438', 'score': 0.34}]
chr10 GH10I069219 69219544 69226996 1.94 [{'connected_gene': 'HKDC1', 'score': 565.6}, {'connected_gene': 'SUPV3L1', 'score': 17.96}, {'connected_gene': 'CCAR1', 'score': 13.97}, {'connected_gene': 'DDX50', 'score': 12.87}, {'connected_gene': 'HNRNPH3', 'score': 11.98}, {'connected_gene': 'SAR1A', 'score': 11.38}, {'connected_gene': 'ENSG00000231748', 'score': 11.03}, {'connected_gene': 'HK1', 'score': 11.02}, {'connected_gene': 'RPL26P27', 'score': 10.98}, {'connected_gene': 'LOC101928994', 'score': 0.44}]
chr10 GH10I069227 69227643 69231334 1.35 [{'connected_gene': 'HKDC1', 'score': 15.01}, {'connected_gene': 'DDX21', 'score': 14.24}, {'connected_gene': 'CCAR1', 'score': 13.97}, {'connected_gene': 'DDX50', 'score': 12.87}, {'connected_gene': 'HNRNPH3', 'score': 11.98}, {'connected_gene': 'ENSG00000231748', 'score': 11.46}, {'connected_gene': 'HK1', 'score': 11.45}, {'connected_gene': 'SAR1A', 'score': 11.38}, {'connected_gene': 'RPL26P27', 'score': 10.98}, {'connected_gene': 'SUPV3L1', 'score': 4.81}, {'connected_gene': 'LOC101928994', 'score': 0.77}]
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 GH10I069179 69179012 69182306 2.11 [{'connected_gene': 'SUPV3L1', 'score': 558.01}, {'connected_gene': 'CCAR1', 'score': 92.78}, {'connected_gene': 'DDX50', 'score': 84.45}, {'connected_gene': 'HNRNPH3', 'score': 45.57}, {'connected_gene': 'TYSND1', 'score': 38.9}, {'connected_gene': 'SAR1A', 'score': 29.27}, {'connected_gene': 'DDX21', 'score': 23.57}, {'connected_gene': 'RPL26P27', 'score': 19.07}, {'connected_gene': 'VPS26A', 'score': 13.67}, {'connected_gene': 'HKDC1', 'score': 12.18}, {'connected_gene': 'LOC101928994', 'score': 5.97}]
chr10 GH10I069178 69178897 69178934 0.2 [{'connected_gene': 'SUPV3L1', 'score': 550.77}, {'connected_gene': 'RPS12P17', '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 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 GH10I068976 68976098 68976164 0.53 [{'connected_gene': 'CCAR1', 'score': 11.26}, {'connected_gene': 'MIR1254-1', 'score': 10.12}, {'connected_gene': 'SUPV3L1', 'score': 3.71}, {'connected_gene': 'DDX21', 'score': 2.08}, {'connected_gene': 'DDX50', 'score': 1.34}, {'connected_gene': 'GC10M068939', 'score': 0.44}, {'connected_gene': 'KIF1BP', 'score': 0.39}]
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 GH10I070009 70009317 70009644 0.27 [{'connected_gene': 'H2AFY2', 'score': 5.56}, {'connected_gene': 'SUPV3L1', 'score': 5.08}, {'connected_gene': 'LOC102723350', 'score': 0.39}, {'connected_gene': 'LOC105378347', 'score': 0.09}]
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 GH10I069818 69818531 69820476 0.62 [{'connected_gene': 'LOC105378347', 'score': 550.77}, {'connected_gene': 'SUPV3L1', 'score': 11.37}, {'connected_gene': 'VPS26A', 'score': 11.17}, {'connected_gene': 'COL13A1', 'score': 5.74}]
chr10 GH10I069202 69202111 69206752 0.89 [{'connected_gene': 'ENSG00000231748', 'score': 10.69}, {'connected_gene': 'HK1', 'score': 10.68}, {'connected_gene': 'LOC101928994', 'score': 6.05}, {'connected_gene': 'SUPV3L1', 'score': 5.81}, {'connected_gene': 'PBLD', 'score': 4.74}, {'connected_gene': 'HKDC1', 'score': 0.37}]
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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