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
ENST00000381337 [[20744985, 20747680], [20748181, 20748608], [20749029, 20749278], [20750218, 20750393], [20752830, 20753406]] [[20748201, 20748608], [20749029, 20749278], [20750218, 20750393], [20752830, 20753061]]
ENST00000431224 [[20744990, 20747680], [20748181, 20748608], [20749029, 20749278], [20750218, 20750393], [20752830, 20753406]] [[20748201, 20748608], [20749029, 20749278], [20750218, 20750393], [20752830, 20753319]]
ENST00000396083 [[20746696, 20748608], [20749029, 20749278], [20750218, 20750393], [20752830, 20753118]] [[20748201, 20748608], [20749029, 20749278], [20750218, 20750393], [20752830, 20753061]]
ENST00000570231 [[20748133, 20748608], [20749029, 20749594]] None
ENST00000565248 [[20748410, 20748608], [20749029, 20749278], [20749409, 20749591], [20750218, 20750393], [20752830, 20753125]] [[20749559, 20749591], [20750218, 20750393], [20752830, 20753061]]
ENST00000569768 [[20750065, 20750393], [20752830, 20753137]] None
NM_017736 [[20744985, 20748608], [20749029, 20749278], [20750218, 20750393], [20752830, 20753286]] [[20748201, 20748608], [20749029, 20749278], [20750218, 20750393], [20752830, 20753061]]
NM_001304550 [[20744985, 20747680], [20748181, 20748608], [20749029, 20749278], [20750218, 20750393], [20752830, 20753286]] [[20748201, 20748608], [20749029, 20749278], [20750218, 20750393], [20752830, 20753061]]
Promoter
Chrom Start End Description
chr16 20753069 20753092 CAGE_peak_2_at_THUMPD1_5end
chr16 20753114 20753157 CAGE_peak_1_at_THUMPD1_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr16 GH16I019878 19878885 19880138 0.97 [{'connected_gene': 'REXO5', 'score': 10.84}, {'connected_gene': 'C16orf62', 'score': 10.84}, {'connected_gene': 'THUMPD1', 'score': 10.21}, {'connected_gene': 'KNOP1', 'score': 7.72}, {'connected_gene': 'GPRC5B', 'score': 0.44}, {'connected_gene': 'LARP7P2', 'score': 0.22}, {'connected_gene': 'GC16M019876', 'score': 0.1}]
chr16 GH16I020804 20804943 20808534 2.1 [{'connected_gene': 'REXO5', 'score': 550.77}, {'connected_gene': 'ERI2', 'score': 550.16}, {'connected_gene': 'ACSM1', 'score': 12.68}, {'connected_gene': 'ACSM3', 'score': 12.45}, {'connected_gene': 'THUMPD1', 'score': 11.72}, {'connected_gene': 'SMG1P3', 'score': 11.1}, {'connected_gene': 'NPIPB3', 'score': 9.98}, {'connected_gene': 'ENSG00000275908', 'score': 0.37}]
chr16 GH16I020858 20858921 20863598 0.52 [{'connected_gene': 'ACSM3', 'score': 15.22}, {'connected_gene': 'LYRM1', 'score': 12.1}, {'connected_gene': 'DCUN1D3', 'score': 12.1}, {'connected_gene': 'THUMPD1', 'score': 11.94}, {'connected_gene': 'TMEM159', 'score': 10.31}, {'connected_gene': 'DNAH3', 'score': 10.31}, {'connected_gene': 'PIR58963', 'score': 0.39}, {'connected_gene': 'GC16P020829', 'score': 0.29}, {'connected_gene': 'ERI2', 'score': 0.28}]
chr16 GH16I020871 20871773 20875655 1.31 [{'connected_gene': 'ACSM3', 'score': 15.22}, {'connected_gene': 'LYRM1', 'score': 12.68}, {'connected_gene': 'DCUN1D3', 'score': 12.68}, {'connected_gene': 'THUMPD1', 'score': 11.53}, {'connected_gene': 'PIR58963', 'score': 0.34}, {'connected_gene': 'ERI2', 'score': 0.31}, {'connected_gene': 'GC16P020829', 'score': 0.26}]
chr16 GH16I020883 20883356 20886042 1.11 [{'connected_gene': 'ACSM3', 'score': 14.19}, {'connected_gene': 'TMEM159', 'score': 10.38}, {'connected_gene': 'DNAH3', 'score': 10.38}, {'connected_gene': 'THUMPD1', 'score': 5.67}, {'connected_gene': 'LYRM1', 'score': 0.39}, {'connected_gene': 'ERI2', 'score': 0.37}, {'connected_gene': 'DCUN1D3', 'score': 0.37}, {'connected_gene': 'PIR58963', 'score': 0.28}, {'connected_gene': 'GC16P020829', 'score': 0.22}]
chr16 GH16I020864 20864723 20868277 1.52 [{'connected_gene': 'ACSM3', 'score': 15.22}, {'connected_gene': 'THUMPD1', 'score': 12.45}, {'connected_gene': 'LYRM1', 'score': 12.12}, {'connected_gene': 'DCUN1D3', 'score': 12.12}, {'connected_gene': 'TMEM159', 'score': 10.31}, {'connected_gene': 'DNAH3', 'score': 10.31}, {'connected_gene': 'PIR58963', 'score': 0.37}, {'connected_gene': 'ERI2', 'score': 0.29}, {'connected_gene': 'GC16P020829', 'score': 0.28}]
chr16 GH16I020876 20876784 20883078 1.29 [{'connected_gene': 'ACSM3', 'score': 21.31}, {'connected_gene': 'THUMPD1', 'score': 12.95}, {'connected_gene': 'DCUN1D3', 'score': 12.64}, {'connected_gene': 'ACSM1', 'score': 12.52}, {'connected_gene': 'NPIPB3', 'score': 11.42}, {'connected_gene': 'TMEM159', 'score': 10.38}, {'connected_gene': 'DNAH3', 'score': 10.38}, {'connected_gene': 'LYRM1', 'score': 0.37}, {'connected_gene': 'ERI2', 'score': 0.34}, {'connected_gene': 'PIR58963', 'score': 0.29}, {'connected_gene': 'GC16P020829', 'score': 0.23}]
chr16 GH16I020762 20762819 20767313 2.15 [{'connected_gene': 'ACSM3', 'score': 565.14}, {'connected_gene': 'ENSG00000260510', 'score': 550.77}, {'connected_gene': 'THUMPD1', 'score': 16.99}, {'connected_gene': 'SMG1P3', 'score': 11.26}, {'connected_gene': 'NPIPB3', 'score': 10.47}, {'connected_gene': 'REXO5', 'score': 6.37}, {'connected_gene': 'GC16P020744', 'score': 0.34}]
chr16 GH16I020825 20825079 20826801 0.91 [{'connected_gene': 'THUMPD1', 'score': 11.95}, {'connected_gene': 'ACSM3', 'score': 10.63}, {'connected_gene': 'LYRM1', 'score': 10.57}, {'connected_gene': 'DCUN1D3', 'score': 10.57}, {'connected_gene': 'TMEM159', 'score': 9.93}, {'connected_gene': 'DNAH3', 'score': 9.93}, {'connected_gene': 'GC16P020829', 'score': 0.77}, {'connected_gene': 'ENSG00000275908', 'score': 0.77}, {'connected_gene': 'REXO5', 'score': 0.37}, {'connected_gene': 'ERI2', 'score': 0.19}]
chr16 GH16I020743 20743955 20748213 1.39 [{'connected_gene': 'THUMPD1', 'score': 26.81}, {'connected_gene': 'ACSM3', 'score': 21.68}, {'connected_gene': 'NPIPB3', 'score': 15.9}, {'connected_gene': 'SMG1P3', 'score': 12.86}, {'connected_gene': 'REXO5', 'score': 11.97}, {'connected_gene': 'ERI2', 'score': 11.86}, {'connected_gene': 'GC16P020744', 'score': 0.77}, {'connected_gene': 'ENSG00000260510', 'score': 0.34}]
chr16 GH16I020759 20759388 20761762 0.78 [{'connected_gene': 'THUMPD1', 'score': 34.02}, {'connected_gene': 'ACSM3', 'score': 15.25}, {'connected_gene': 'NPIPB3', 'score': 14.11}, {'connected_gene': 'SMG1P3', 'score': 12.05}, {'connected_gene': 'ENSG00000260510', 'score': 0.44}, {'connected_gene': 'GC16P020744', 'score': 0.37}]
chr16 GH16I020739 20739645 20742468 2.28 [{'connected_gene': 'THUMPD1', 'score': 550.77}, {'connected_gene': 'ACSM3', 'score': 15.06}, {'connected_gene': 'ACSM1', 'score': 10.83}, {'connected_gene': 'PIR32517', 'score': 0.31}]
chr16 GH16I020718 20718059 20718449 0.6 [{'connected_gene': 'THUMPD1', 'score': 26.71}, {'connected_gene': 'LYRM1', 'score': 4.48}, {'connected_gene': 'DCUN1D3', 'score': 3.72}, {'connected_gene': 'ENSG00000283399', 'score': 0.44}, {'connected_gene': 'PIR32517', 'score': 0.44}, {'connected_gene': 'LOC100887080', 'score': 0.44}, {'connected_gene': 'LOC105379461', 'score': 0.26}, {'connected_gene': 'ACSM3', 'score': 0.14}]
chr16 GH16I020968 20968499 20968648 0.2 [{'connected_gene': 'THUMPD1', 'score': 5.96}, {'connected_gene': 'PIR35456', 'score': 0.77}, {'connected_gene': 'GC16M021061', 'score': 0.16}, {'connected_gene': 'DNAH3', 'score': 0.08}]
chr16 GH16I020918 20918408 20919500 1.32 [{'connected_gene': 'THUMPD1', 'score': 19.01}, {'connected_gene': 'NPIPB4', 'score': 15.43}, {'connected_gene': 'NPIPB3', 'score': 14.12}, {'connected_gene': 'SMG1P3', 'score': 12.05}, {'connected_gene': 'RRN3P1', 'score': 11.55}, {'connected_gene': 'ACSM3', 'score': 11.18}, {'connected_gene': 'DNAH3', 'score': 9.5}, {'connected_gene': 'TMEM159', 'score': 9.5}, {'connected_gene': 'DCUN1D3', 'score': 0.37}, {'connected_gene': 'LYRM1', 'score': 0.34}, {'connected_gene': 'PIR35456', 'score': 0.25}, {'connected_gene': 'GC16P020829', 'score': 0.17}]
chr16 GH16I020681 20681779 20683020 0.87 [{'connected_gene': 'THUMPD1', 'score': 17.15}, {'connected_gene': 'LOC105379461', 'score': 0.44}, {'connected_gene': 'ACSM1', 'score': 0.37}, {'connected_gene': 'ACSM3', 'score': 0.19}]
chr16 GH16I020707 20707599 20707748 0.2 [{'connected_gene': 'THUMPD1', 'score': 17.24}, {'connected_gene': 'LOC100887080', 'score': 0.77}, {'connected_gene': 'ACSM1', 'score': 0.44}, {'connected_gene': 'LOC105379461', 'score': 0.29}, {'connected_gene': 'ACSM3', 'score': 0.15}]
chr16 GH16I019881 19881695 19885648 2.25 [{'connected_gene': 'GPRC5B', 'score': 566.46}, {'connected_gene': 'THUMPD1', 'score': 16.92}, {'connected_gene': 'C16orf62', 'score': 10.83}, {'connected_gene': 'KNOP1', 'score': 8.75}, {'connected_gene': 'CCP110', 'score': 7.06}, {'connected_gene': 'LARP7P2', 'score': 0.21}, {'connected_gene': 'GC16M019876', 'score': 0.09}]
chr16 GH16I021598 21597257 21601876 2.63 [{'connected_gene': 'METTL9', 'score': 574.9}, {'connected_gene': 'LOC101927814', 'score': 550.77}, {'connected_gene': 'IGSF6', 'score': 20.86}, {'connected_gene': 'NPIPB5', 'score': 11.2}, {'connected_gene': 'REXO5', 'score': 10.85}, {'connected_gene': 'NPIPB4', 'score': 10.84}, {'connected_gene': 'NPIPB3', 'score': 10.25}, {'connected_gene': 'THUMPD1', 'score': 10.24}, {'connected_gene': 'MFSD13B', 'score': 10.05}, {'connected_gene': 'CRYM', 'score': 6.92}, {'connected_gene': 'PIR54824', 'score': 0.44}]
chr16 GH16I019804 19804077 19810400 0.99 [{'connected_gene': 'KNOP1', 'score': 44.19}, {'connected_gene': 'THUMPD1', 'score': 22.62}, {'connected_gene': 'SMG1', 'score': 10.34}, {'connected_gene': 'ACSM5', 'score': 4.65}, {'connected_gene': 'LARP7P2', 'score': 0.39}, {'connected_gene': 'LOC105371115', 'score': 0.26}, {'connected_gene': 'IQCK', 'score': 0.16}]
chr16 GH16I020909 20909738 20915105 1.48 [{'connected_gene': 'DCUN1D3', 'score': 22.84}, {'connected_gene': 'ACSM3', 'score': 13.64}, {'connected_gene': 'TMEM159', 'score': 9.67}, {'connected_gene': 'DNAH3', 'score': 9.67}, {'connected_gene': 'CRYM', 'score': 9.29}, {'connected_gene': 'ACSM1', 'score': 9.13}, {'connected_gene': 'THUMPD1', 'score': 7.74}, {'connected_gene': 'LYRM1', 'score': 6.73}, {'connected_gene': 'PIR35456', 'score': 0.23}, {'connected_gene': 'GC16P020829', 'score': 0.18}]
chr16 GH16I020896 20896928 20908383 2.59 [{'connected_gene': 'DCUN1D3', 'score': 573.77}, {'connected_gene': 'LYRM1', 'score': 557.6}, {'connected_gene': 'THUMPD1', 'score': 24.89}, {'connected_gene': 'ACSM3', 'score': 19.31}, {'connected_gene': 'SMG1P3', 'score': 12.97}, {'connected_gene': 'ACSM1', 'score': 11.83}, {'connected_gene': 'CRYM', 'score': 7.49}, {'connected_gene': 'ERI2', 'score': 0.77}, {'connected_gene': 'PIR35456', 'score': 0.21}, {'connected_gene': 'GC16P020829', 'score': 0.19}]
chr16 GH16I020783 20783090 20783239 0.26 [{'connected_gene': 'RNU6-944P', 'score': 550.77}, {'connected_gene': 'GC16P020787', 'score': 550.77}, {'connected_gene': 'PDILT', 'score': 70.8}, {'connected_gene': 'REXO5', 'score': 26.07}, {'connected_gene': 'THUMPD1', 'score': 16.58}, {'connected_gene': 'ENSG00000260510', 'score': 0.37}, {'connected_gene': 'ERI2', 'score': 0.13}, {'connected_gene': 'ACSM3', 'score': 0.09}]
chr16 GH16I021517 21517876 21522581 1.78 [{'connected_gene': 'SMG1P3', 'score': 562.79}, {'connected_gene': 'SLC7A5P2', 'score': 550.77}, {'connected_gene': 'THUMPD1', 'score': 33.87}, {'connected_gene': 'RRN3P1', 'score': 31.41}, {'connected_gene': 'NPIPB4', 'score': 23.82}, {'connected_gene': 'NPIPB3', 'score': 22.8}, {'connected_gene': 'NPIPB5', 'score': 22.58}, {'connected_gene': 'C16orf52', 'score': 13.2}, {'connected_gene': 'SMG1P1', 'score': 12.62}, {'connected_gene': 'ENSG00000260635', 'score': 12.61}, {'connected_gene': 'ENSG00000260306', 'score': 12.31}, {'connected_gene': 'SMG1P4', 'score': 12.13}, {'connected_gene': 'POLR3E', 'score': 12.02}, {'connected_gene': 'METTL9', 'score': 10.07}, {'connected_gene': 'PIR36552', 'score': 0.44}]
chr16 GH16I021500 21500200 21503792 1.56 [{'connected_gene': 'ENSG00000260635', 'score': 16.13}, {'connected_gene': 'SMG1P1', 'score': 14.62}, {'connected_gene': 'SMG1P4', 'score': 13.9}, {'connected_gene': 'SMG1P3', 'score': 13.31}, {'connected_gene': 'C16orf52', 'score': 13.27}, {'connected_gene': 'THUMPD1', 'score': 13.22}, {'connected_gene': 'POLR3E', 'score': 11.05}, {'connected_gene': 'REXO5', 'score': 10.85}, {'connected_gene': 'MFSD13B', 'score': 10.05}, {'connected_gene': 'ENSG00000260306', 'score': 5.16}, {'connected_gene': 'MIR3680-1', 'score': 0.77}, {'connected_gene': 'NPIPB3', 'score': 0.23}]
chr16 GH16I020849 20849601 20852672 1.57 [{'connected_gene': 'PIR58963', 'score': 550.77}, {'connected_gene': 'THUMPD1', 'score': 15.37}, {'connected_gene': 'LYRM1', 'score': 11.77}, {'connected_gene': 'DCUN1D3', 'score': 11.77}, {'connected_gene': 'TMEM159', 'score': 10.4}, {'connected_gene': 'DNAH3', 'score': 10.4}, {'connected_gene': 'GC16P020829', 'score': 0.34}, {'connected_gene': 'REXO5', 'score': 0.26}, {'connected_gene': 'ERI2', 'score': 0.25}]
chr16 GH16I021525 21525061 21526232 1.23 [{'connected_gene': 'PIR54517', 'score': 550.77}, {'connected_gene': 'METTL9', 'score': 14.74}, {'connected_gene': 'NPIPB4', 'score': 13.26}, {'connected_gene': 'THUMPD1', 'score': 12.55}, {'connected_gene': 'NPIPB5', 'score': 11.67}, {'connected_gene': 'NPIPB3', 'score': 11.06}, {'connected_gene': 'SMG1P3', 'score': 10.87}, {'connected_gene': 'SMG1P1', 'score': 10.81}, {'connected_gene': 'SMG1P4', 'score': 10.74}, {'connected_gene': 'ENSG00000260635', 'score': 10.58}, {'connected_gene': 'ENSG00000273956', 'score': 0.44}]

© 2018 bmi.sjtu.edu.cn. All rights reserved.
浙ICP备18030141号.