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
ENST00000326448 [[159974773, 159976423], [159986200, 159986324], [159995093, 159995266], [159995368, 159995458], [159996980, 159997152], [159998454, 159998602], [160000265, 160000401], [160003591, 160003656], [160018670, 160018834], [160021702, 160021777], [160025450, 160025569], [160037547, 160037727], [160073800, 160073938], [160075276, 160075366], [160083830, 160083940], [160093599, 160093668], [160095217, 160095328], [160099290, 160099512], [160102351, 160102434], [160116933, 160117320]] [[159976312, 159976423], [159986200, 159986324], [159995093, 159995266], [159995368, 159995458], [159996980, 159997152], [159998454, 159998602], [160000265, 160000401], [160003591, 160003656], [160018670, 160018834], [160021702, 160021777], [160025450, 160025569], [160037547, 160037727], [160073800, 160073938], [160075276, 160075366], [160083830, 160083940], [160093599, 160093668], [160095217, 160095328], [160099290, 160099512], [160102351, 160102388]]
ENST00000483465 [[159974779, 159976423], [159986200, 159986324], [159995093, 159995266], [159995368, 159995458], [159996980, 159997152], [159998454, 159998602], [160000265, 160000401], [160003591, 160003656], [160018670, 160018834], [160021702, 160021777], [160025450, 160025569], [160037547, 160037727], [160073800, 160073938], [160075276, 160075366], [160083830, 160083940], [160093599, 160093668], [160095217, 160095328], [160099290, 160099506], [160101224, 160101444]] [[159976312, 159976423], [159986200, 159986324], [159995093, 159995266], [159995368, 159995458], [159996980, 159997152], [159998454, 159998602], [160000265, 160000401], [160003591, 160003656], [160018670, 160018834], [160021702, 160021777], [160025450, 160025569], [160037547, 160037727], [160073800, 160073938], [160075276, 160075366], [160083830, 160083940], [160093599, 160093627]]
ENST00000496589 [[159975967, 159976423], [159986200, 159986324], [159995093, 159995266], [159995368, 159995458], [159996980, 159997152], [159998454, 159998602], [160000265, 160000401], [160003591, 160003656], [160018670, 160018834], [160021702, 160021777], [160025450, 160025569], [160037547, 160037727], [160073800, 160073938], [160075276, 160075366], [160083830, 160083940], [160093599, 160093668], [160095217, 160095328], [160099290, 160099506], [160101224, 160101292], [160102193, 160102434], [160116933, 160117061]] [[159976312, 159976423], [159986200, 159986324], [159995093, 159995266], [159995368, 159995458], [159996980, 159997152], [159998454, 159998602], [160000265, 160000401], [160003591, 160003656], [160018670, 160018834], [160021702, 160021777], [160025450, 160025569], [160037547, 160037727], [160073800, 160073938], [160075276, 160075366], [160083830, 160083940], [160093599, 160093627]]
ENST00000487943 [[159975972, 159976423], [159986200, 159986324], [159995093, 159995266], [159995368, 159995458], [159996980, 159997152], [159998454, 159998602], [160000265, 160000401], [160003591, 160003656], [160018670, 160018834], [160021702, 160021777], [160025450, 160025569], [160037547, 160037727], [160073800, 160073938], [160075276, 160075366], [160093599, 160093668], [160095217, 160095328], [160099290, 160099506], [160101224, 160102434], [160109333, 160109431], [160116933, 160116997]] None
ENST00000472555 [[160021703, 160021777], [160025450, 160025569], [160037547, 160037727], [160061438, 160061603], [160073800, 160073938], [160075276, 160075287]] [[160061543, 160061603], [160073800, 160073938], [160075276, 160075287]]
ENST00000478460 [[160037620, 160037727], [160073800, 160073938], [160075276, 160075366], [160093599, 160093668], [160095217, 160095328], [160116933, 160117009]] None
ENST00000478278 [[159976190, 159976423], [159986200, 159986549]] None
ENST00000463240 [[159976206, 159976423], [159986200, 159986324], [159992317, 159992391], [159995093, 159995266]] None
ENST00000483325 [[160016866, 160017062], [160018670, 160018834], [160021702, 160021777], [160025450, 160025569]] [[160017051, 160017062], [160018670, 160018834], [160021702, 160021777], [160025450, 160025569]]
ENST00000461213 [[160021731, 160021777], [160025450, 160025569], [160037547, 160037935]] None
ENST00000484963 [[160073800, 160073938], [160075276, 160075366], [160083880, 160083940], [160093599, 160093668], [160095217, 160095242]] [[160075352, 160075366], [160083880, 160083940], [160093599, 160093668], [160095217, 160095242]]
ENST00000465537 [[160073800, 160073938], [160075276, 160075366], [160083830, 160083940], [160093599, 160093668], [160095217, 160095328], [160099290, 160099512], [160102376, 160102434], [160116933, 160116995]] [[160073800, 160073938], [160075276, 160075366], [160083830, 160083940], [160093599, 160093627]]
ENST00000472773 [[160075272, 160075366], [160093599, 160093668], [160095217, 160095328], [160099290, 160099512], [160102351, 160102434], [160116933, 160117011]] None
ENST00000475677 [[160075272, 160075366], [160083830, 160083940], [160093599, 160093668], [160095217, 160095328], [160117187, 160117332]] [[160075272, 160075366], [160083830, 160083940], [160093599, 160093627]]
ENST00000498409 [[160083840, 160083940], [160093599, 160093668], [160095217, 160095328], [160099290, 160099512], [160102351, 160102434], [160117187, 160117321]] [[160083840, 160083940], [160093599, 160093668], [160095217, 160095328], [160099290, 160099512], [160102351, 160102388]]
ENST00000468218 [[160083842, 160083940], [160093599, 160093668], [160095217, 160095328], [160095620, 160095678], [160099290, 160099360], [160102351, 160102434], [160116933, 160117011]] [[160083842, 160083940], [160093599, 160093627]]
ENST00000486856 [[160083870, 160083940], [160093599, 160093668], [160095217, 160095305], [160102193, 160102434], [160116933, 160117004]] [[160083870, 160083940], [160093599, 160093627]]
ENST00000478370 [[160083870, 160083940], [160093599, 160093668], [160095217, 160095328], [160099290, 160099360], [160102351, 160102434], [160109333, 160109431], [160116933, 160117011]] [[160083870, 160083940], [160093599, 160093627]]
ENST00000477495 [[160091279, 160091460], [160093599, 160093668], [160095217, 160095328], [160099290, 160099512], [160102351, 160102434], [160116933, 160117033]] None
ENST00000482317 [[160093606, 160093668], [160095217, 160095353], [160099290, 160099512], [160102351, 160102434], [160116933, 160117004]] [[160095324, 160095353], [160099290, 160099512], [160102351, 160102388]]
ENST00000465972 [[160095223, 160095305], [160099399, 160099506], [160101224, 160101292], [160102193, 160102434], [160116933, 160117004]] None
ENST00000489004 [[160095223, 160095328], [160099290, 160099512], [160102351, 160102434], [160109333, 160109431], [160116933, 160117035]] [[160095223, 160095328], [160099290, 160099512], [160102351, 160102388]]
ENST00000468327 [[160095229, 160095328], [160099290, 160099514], [160102351, 160102434], [160109333, 160109431], [160116933, 160117003]] None
ENST00000478536 [[160099356, 160099512], [160102351, 160102434], [160111940, 160112098], [160117187, 160117332]] [[160099356, 160099512], [160102351, 160102388]]
ENST00000498145 [[160099392, 160099506], [160101224, 160101292], [160102193, 160102434], [160117187, 160117308]] None
ENST00000467254 [[160101772, 160102434], [160116933, 160117035]] None
ENST00000466326 [[160102388, 160102434], [160117156, 160117668]] None
NM_001190242 [[159974773, 159976423], [159986200, 159986324], [159995093, 159995266], [159995368, 159995458], [159996980, 159997152], [159998454, 159998602], [160000265, 160000401], [160003591, 160003656], [160018670, 160018834], [160021702, 160021777], [160025450, 160025569], [160037547, 160037727], [160073800, 160073938], [160075276, 160075366], [160083830, 160083940], [160093599, 160093668], [160095217, 160095328], [160099290, 160099506], [160101224, 160101554]] [[159976312, 159976423], [159986200, 159986324], [159995093, 159995266], [159995368, 159995458], [159996980, 159997152], [159998454, 159998602], [160000265, 160000401], [160003591, 160003656], [160018670, 160018834], [160021702, 160021777], [160025450, 160025569], [160037547, 160037727], [160073800, 160073938], [160075276, 160075366], [160083830, 160083940], [160093599, 160093627]]
NM_001190241 [[159974773, 159976423], [159986200, 159986324], [159995093, 159995266], [159995368, 159995458], [159996980, 159997152], [159998454, 159998602], [160000265, 160000401], [160003591, 160003656], [160018670, 160018834], [160021702, 160021777], [160025450, 160025569], [160037547, 160037727], [160073800, 160073938], [160075276, 160075366], [160083830, 160083940], [160093599, 160093668], [160095217, 160095328], [160099290, 160099506], [160101224, 160101292], [160102193, 160102434], [160116933, 160117320]] [[159976312, 159976423], [159986200, 159986324], [159995093, 159995266], [159995368, 159995458], [159996980, 159997152], [159998454, 159998602], [160000265, 160000401], [160003591, 160003656], [160018670, 160018834], [160021702, 160021777], [160025450, 160025569], [160037547, 160037727], [160073800, 160073938], [160075276, 160075366], [160083830, 160083940], [160093599, 160093627]]
NM_020800 [[159974773, 159976423], [159986200, 159986324], [159995093, 159995266], [159995368, 159995458], [159996980, 159997152], [159998454, 159998602], [160000265, 160000401], [160003591, 160003656], [160018670, 160018834], [160021702, 160021777], [160025450, 160025569], [160037547, 160037727], [160073800, 160073938], [160075276, 160075366], [160083830, 160083940], [160093599, 160093668], [160095217, 160095328], [160099290, 160099512], [160102351, 160102434], [160116933, 160117320]] [[159976312, 159976423], [159986200, 159986324], [159995093, 159995266], [159995368, 159995458], [159996980, 159997152], [159998454, 159998602], [160000265, 160000401], [160003591, 160003656], [160018670, 160018834], [160021702, 160021777], [160025450, 160025569], [160037547, 160037727], [160073800, 160073938], [160075276, 160075366], [160083830, 160083940], [160093599, 160093668], [160095217, 160095328], [160099290, 160099512], [160102351, 160102388]]
Promoter
Chrom Start End Description
chr3 160099426 160099451 CAGE_peak_3_at_IFT80_5end
chr3 160099458 160099469 CAGE_peak_7_at_IFT80_5end
chr3 160116969 160116980 CAGE_peak_5_at_IFT80_5end
chr3 160116996 160117020 CAGE_peak_1_at_IFT80_5end
chr3 160117038 160117047 CAGE_peak_4_at_IFT80_5end
chr3 160117301 160117342 CAGE_peak_2_at_IFT80_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr3 GH03I160980 160980401 160981982 0.98 [{'connected_gene': 'B3GALNT1', 'score': 21.15}, {'connected_gene': 'SPTSSB', 'score': 11.36}, {'connected_gene': 'NMD3', 'score': 11.03}, {'connected_gene': 'IFT80', 'score': 10.48}, {'connected_gene': 'SMC4', 'score': 10.18}, {'connected_gene': 'PIR58593', 'score': 0.29}, {'connected_gene': 'GC03P161074', 'score': 0.16}, {'connected_gene': 'PPM1L', 'score': 0.07}]
chr3 GH03I160675 160675579 160680334 1.45 [{'connected_gene': 'ARL14', 'score': 550.77}, {'connected_gene': 'KPNA4', 'score': 6.22}, {'connected_gene': 'IFT80', 'score': 5.28}, {'connected_gene': 'ENSG00000207084', 'score': 0.37}]
chr3 GH03I159828 159828449 159831272 1.38 [{'connected_gene': 'IFT80', 'score': 18.89}, {'connected_gene': 'RNU2-31P', 'score': 10.74}, {'connected_gene': 'IL12A', 'score': 10.57}, {'connected_gene': 'SMC4', 'score': 10.41}, {'connected_gene': 'IQCJ-SCHIP1-AS1', 'score': 10.3}, {'connected_gene': 'LOC101928351', 'score': 0.44}, {'connected_gene': 'SCHIP1', 'score': 0.03}, {'connected_gene': 'IQCJ-SCHIP1', 'score': 0.03}]
chr3 GH03I160330 160330544 160332230 1.09 [{'connected_gene': 'IFT80', 'score': 7.87}, {'connected_gene': 'SMC4', 'score': 6.09}, {'connected_gene': 'RPL35AP10', 'score': 0.39}, {'connected_gene': 'IL12A-AS1', 'score': 0.14}, {'connected_gene': 'ENSG00000248710', 'score': 0.13}]
chr3 GH03I160381 160381641 160381700 0.68 [{'connected_gene': 'IFT80', 'score': 550.37}, {'connected_gene': 'SMC4', 'score': 0.37}, {'connected_gene': 'RPL35AP10', 'score': 0.28}, {'connected_gene': 'ENSG00000248710', 'score': 0.2}]
chr3 GH03I160383 160383603 160383662 0.5 [{'connected_gene': 'IFT80', 'score': 550.37}, {'connected_gene': 'SMC4', 'score': 0.37}, {'connected_gene': 'RPL35AP10', 'score': 0.26}, {'connected_gene': 'ENSG00000248710', 'score': 0.2}]
chr3 GH03I160461 160461153 160467966 0.31 [{'connected_gene': 'B3GAT3P1', 'score': 12.61}, {'connected_gene': 'TRIM59', 'score': 12.2}, {'connected_gene': 'SCARNA7', 'score': 10.74}, {'connected_gene': 'IFT80', 'score': 7.64}, {'connected_gene': 'SMC4', 'score': 6.09}, {'connected_gene': 'SPTSSB', 'score': 4.8}, {'connected_gene': 'GC03M160475', 'score': 0.44}, {'connected_gene': 'GC03P160455', 'score': 0.39}, {'connected_gene': 'PIR52189', 'score': 0.39}, {'connected_gene': 'GC03P160454', 'score': 0.39}]
chr3 GH03I160454 160454460 160456502 0.2 [{'connected_gene': 'B3GAT3P1', 'score': 12.68}, {'connected_gene': 'TRIM59', 'score': 12.44}, {'connected_gene': 'SCARNA7', 'score': 10.33}, {'connected_gene': 'IFT80', 'score': 7.83}, {'connected_gene': 'SMC4', 'score': 6.11}, {'connected_gene': 'GC03P160455', 'score': 0.77}, {'connected_gene': 'PIR52189', 'score': 0.77}, {'connected_gene': 'GC03P160454', 'score': 0.77}, {'connected_gene': 'GC03M160475', 'score': 0.37}]
chr3 GH03I160452 160452206 160454097 0.52 [{'connected_gene': 'B3GAT3P1', 'score': 560.19}, {'connected_gene': 'GC03P160455', 'score': 550.77}, {'connected_gene': 'PIR52189', 'score': 550.77}, {'connected_gene': 'GC03P160454', 'score': 550.77}, {'connected_gene': 'TRIM59', 'score': 12.44}, {'connected_gene': 'SCARNA7', 'score': 10.32}, {'connected_gene': 'IFT80', 'score': 6.96}, {'connected_gene': 'GC03M160475', 'score': 0.37}]
chr3 GH03I160457 160457440 160459298 0.56 [{'connected_gene': 'TRIM59', 'score': 12.46}, {'connected_gene': 'SCARNA7', 'score': 10.33}, {'connected_gene': 'B3GAT3P1', 'score': 8.69}, {'connected_gene': 'IFT80', 'score': 7.05}, {'connected_gene': 'GC03P160455', 'score': 0.44}, {'connected_gene': 'PIR52189', 'score': 0.44}, {'connected_gene': 'GC03P160454', 'score': 0.44}, {'connected_gene': 'GC03M160475', 'score': 0.39}]
chr3 GH03I161265 161265235 161269110 1.29 [{'connected_gene': 'SPTSSB', 'score': 31.17}, {'connected_gene': 'IFT80', 'score': 13.99}, {'connected_gene': 'PSMC1P7', 'score': 13.99}, {'connected_gene': 'ENSG00000260572', 'score': 10.48}, {'connected_gene': 'RPL23AP42', 'score': 9.83}, {'connected_gene': 'LINC02067', 'score': 8.61}, {'connected_gene': 'LOC105374187', 'score': 0.77}, {'connected_gene': 'ENSG00000271052', 'score': 0.26}]
chr3 GH03I160398 160398152 160405630 2.24 [{'connected_gene': 'SMC4', 'score': 566.66}, {'connected_gene': 'IFT80', 'score': 559.12}, {'connected_gene': 'B3GAT3P1', 'score': 10.37}, {'connected_gene': 'GC03P160406', 'score': 0.77}, {'connected_gene': 'MIR15B', 'score': 0.77}, {'connected_gene': 'MIR16-2', 'score': 0.77}, {'connected_gene': 'GC03P160416', 'score': 0.77}, {'connected_gene': 'GC03P160418', 'score': 0.77}, {'connected_gene': 'GC03P160417', 'score': 0.77}, {'connected_gene': 'ENSG00000248710', 'score': 0.25}]

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