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
ENST00000373382 [[70883267, 70883302], [70883415, 70884036], [70892653, 70892803], [70915567, 70915643], [70916762, 70916919], [70917802, 70917967], [70922161, 70922268], [70925797, 70925866], [70928244, 70928387], [70930911, 70932617]] [[70884033, 70884036], [70892653, 70892803], [70915567, 70915643], [70916762, 70916919], [70917802, 70917967], [70922161, 70922268], [70925797, 70925866], [70928244, 70928387], [70930911, 70931025]]
ENST00000263559 [[70883907, 70884036], [70892653, 70892803], [70915567, 70915643], [70916762, 70916919], [70917802, 70917967], [70922161, 70922268], [70925797, 70925866], [70928244, 70928387], [70930911, 70932612]] [[70884033, 70884036], [70892653, 70892803], [70915567, 70915643], [70916762, 70916919], [70917802, 70917967], [70922161, 70922268], [70925797, 70925866], [70928244, 70928387], [70930911, 70931025]]
ENST00000395098 [[70883907, 70884036], [70892653, 70892803], [70915567, 70915643], [70916762, 70916919], [70917802, 70917967], [70922161, 70922268], [70925797, 70925866], [70930911, 70932612]] [[70884033, 70884036], [70892653, 70892803], [70915567, 70915643], [70916762, 70916919], [70917802, 70917967], [70922161, 70922268], [70925797, 70925866], [70930911, 70930940]]
ENST00000489656 [[70883911, 70884036], [70892653, 70892803], [70916762, 70916919], [70917802, 70917967], [70922161, 70922268], [70925797, 70925866], [70928244, 70928288]] [[70884033, 70884036], [70892653, 70892803], [70916762, 70916801]]
ENST00000546041 [[70883939, 70884036], [70892653, 70892803], [70893287, 70893363], [70915567, 70915643], [70916762, 70916919], [70917802, 70917967], [70922161, 70922268], [70925797, 70925866], [70928244, 70928387], [70930911, 70931281]] [[70892777, 70892803], [70893287, 70893363], [70915567, 70915643], [70916762, 70916919], [70917802, 70917967], [70922161, 70922268], [70925797, 70925866], [70928244, 70928387], [70930911, 70931025]]
ENST00000497564 [[70883941, 70884036], [70915567, 70915643], [70916762, 70916919], [70917802, 70917936]] None
ENST00000490696 [[70883967, 70884036], [70892653, 70892803], [70916762, 70916919], [70922161, 70922268], [70925797, 70925866], [70928244, 70928387], [70930911, 70931016]] None
ENST00000467852 [[70884001, 70884036], [70892653, 70892803], [70917802, 70917967], [70922161, 70922268], [70925797, 70925866], [70928244, 70928384]] None
ENST00000541711 [[70884002, 70884036], [70892653, 70892803], [70916762, 70916919], [70917802, 70917967], [70922161, 70922268], [70925797, 70925866], [70928244, 70928387], [70930911, 70931118]] [[70916866, 70916919], [70917802, 70917967], [70922161, 70922268], [70925797, 70925866], [70928244, 70928387], [70930911, 70931025]]
ENST00000489794 [[70892653, 70892803], [70915567, 70915643], [70916762, 70916919], [70917802, 70917967], [70922161, 70922268], [70925797, 70925866], [70930911, 70931115]] [[70892725, 70892803], [70915567, 70915643], [70916762, 70916919], [70917802, 70917967], [70922161, 70922268], [70925797, 70925866], [70930911, 70930940]]
ENST00000497022 [[70929789, 70930125], [70930911, 70931033]] None
NM_001318946 [[70883908, 70884036], [70892653, 70892803], [70916762, 70916919], [70917802, 70917967], [70922161, 70922268], [70925797, 70925866], [70928244, 70928387], [70930911, 70934172]] [[70916866, 70916919], [70917802, 70917967], [70922161, 70922268], [70925797, 70925866], [70928244, 70928387], [70930911, 70931025]]
NM_001035260 [[70883908, 70884036], [70892653, 70892803], [70915567, 70915643], [70916762, 70916919], [70917802, 70917967], [70922161, 70922268], [70925797, 70925866], [70930911, 70934172]] [[70884033, 70884036], [70892653, 70892803], [70915567, 70915643], [70916762, 70916919], [70917802, 70917967], [70922161, 70922268], [70925797, 70925866], [70930911, 70930940]]
NM_004896 [[70883908, 70884036], [70892653, 70892803], [70915567, 70915643], [70916762, 70916919], [70917802, 70917967], [70922161, 70922268], [70925797, 70925866], [70928244, 70928387], [70930911, 70934172]] [[70884033, 70884036], [70892653, 70892803], [70915567, 70915643], [70916762, 70916919], [70917802, 70917967], [70922161, 70922268], [70925797, 70925866], [70928244, 70928387], [70930911, 70931025]]
NM_001318945 [[70883908, 70884036], [70892653, 70892803], [70893287, 70893363], [70915567, 70915643], [70916762, 70916919], [70917802, 70917967], [70922161, 70922268], [70925797, 70925866], [70928244, 70928387], [70930911, 70934172]] [[70892777, 70892803], [70893287, 70893363], [70915567, 70915643], [70916762, 70916919], [70917802, 70917967], [70922161, 70922268], [70925797, 70925866], [70928244, 70928387], [70930911, 70931025]]
NM_001318944 [[70883908, 70884036], [70892653, 70892803], [70893287, 70893393], [70915567, 70915643], [70916762, 70916919], [70917802, 70917967], [70922161, 70922268], [70925797, 70925866], [70928244, 70928387], [70930911, 70934172]] [[70892777, 70892803], [70893287, 70893393], [70915567, 70915643], [70916762, 70916919], [70917802, 70917967], [70922161, 70922268], [70925797, 70925866], [70928244, 70928387], [70930911, 70931025]]
Promoter
Chrom Start End Description
chr10 70883813 70883833 CAGE_peak_2_at_VPS26A_5end
chr10 70883923 70883997 CAGE_peak_1_at_VPS26A_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 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 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 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 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 GH10I068954 68954590 68958428 2.31 [{'connected_gene': 'DDX21', 'score': 564.95}, {'connected_gene': 'DDX50', 'score': 54.89}, {'connected_gene': 'CCAR1', 'score': 50.64}, {'connected_gene': 'HERC4', 'score': 34.88}, {'connected_gene': 'HNRNPH3', 'score': 21.05}, {'connected_gene': 'KIF1BP', 'score': 16.64}, {'connected_gene': 'RPL26P27', 'score': 11.0}, {'connected_gene': 'VPS26A', 'score': 10.61}, {'connected_gene': 'STOX1', 'score': 5.87}, {'connected_gene': 'GC10P068966', 'score': 0.44}, {'connected_gene': 'GC10M068939', 'score': 0.39}]
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 GH10I069445 69445091 69454094 2.41 [{'connected_gene': 'TSPAN15', 'score': 593.72}, {'connected_gene': 'DDX50', 'score': 23.33}, {'connected_gene': 'CCAR1', 'score': 22.96}, {'connected_gene': 'DDX21', 'score': 11.13}, {'connected_gene': 'TYSND1', 'score': 10.92}, {'connected_gene': 'FAM241B', 'score': 10.56}, {'connected_gene': 'VPS26A', 'score': 9.9}, {'connected_gene': 'TACR2', 'score': 5.24}, {'connected_gene': 'AIFM2', 'score': 5.11}, {'connected_gene': 'ATP5MC1P7', 'score': 0.37}, {'connected_gene': 'GC10M069447', 'score': 0.37}]
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 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 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 GH10I069106 69106562 69107529 0.38 [{'connected_gene': 'GC10P069107', 'score': 550.77}, {'connected_gene': 'GC10P069106', 'score': 550.77}, {'connected_gene': 'KIF1BP', 'score': 11.37}, {'connected_gene': 'MED28P1', 'score': 11.37}, {'connected_gene': 'VPS26A', 'score': 6.75}, {'connected_gene': 'GC10P069071', 'score': 0.28}]

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