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
ENST00000587309 [[43002076, 43003867], [43004356, 43004446], [43005393, 43005946], [43006186, 43006392], [43008969, 43009097], [43009423, 43009610], [43010040, 43010141], [43010279, 43010354], [43011290, 43011467], [43011600, 43011798], [43011874, 43011985], [43012198, 43012303], [43012626, 43012784], [43013399, 43013726], [43024995, 43025005]] [[43003767, 43003867], [43004356, 43004446], [43005393, 43005946], [43006186, 43006392], [43008969, 43009097], [43009423, 43009610], [43010040, 43010141], [43010279, 43010354], [43011290, 43011467], [43011600, 43011798], [43011874, 43011985], [43012198, 43012303], [43012626, 43012784], [43013399, 43013712]]
ENST00000438933 [[43003359, 43003867], [43004356, 43004446], [43005393, 43005946], [43006186, 43006392], [43008969, 43009097], [43009423, 43009610], [43010040, 43010141], [43010279, 43010354], [43011290, 43011467], [43011600, 43011798], [43011874, 43011985], [43012198, 43012303], [43012626, 43012784], [43013399, 43013728]] [[43003767, 43003867], [43004356, 43004446], [43005393, 43005946], [43006186, 43006392], [43008969, 43009097], [43009423, 43009610], [43010040, 43010141], [43010279, 43010354], [43011290, 43011467], [43011600, 43011798], [43011874, 43011985], [43012198, 43012303], [43012626, 43012784], [43013399, 43013712]]
ENST00000593135 [[43003359, 43003554], [43003781, 43003867], [43004356, 43004446], [43005393, 43005946], [43006186, 43006392], [43008969, 43009097], [43009423, 43009574], [43010040, 43010141], [43010279, 43010354], [43011290, 43011467], [43011600, 43011798], [43011874, 43011985], [43012198, 43012303], [43012626, 43012784], [43013399, 43013726], [43024995, 43025079]] [[43003447, 43003554], [43003781, 43003867], [43004356, 43004446], [43005393, 43005946], [43006186, 43006392], [43008969, 43009097], [43009423, 43009574], [43010040, 43010141], [43010279, 43010354], [43011290, 43011467], [43011600, 43011798], [43011874, 43011985], [43012198, 43012303], [43012626, 43012784], [43013399, 43013712]]
ENST00000339151 [[43003447, 43003554], [43003781, 43003867], [43004356, 43004446], [43005393, 43005919], [43006186, 43006392], [43008969, 43009097], [43009423, 43009610], [43010040, 43010141], [43010279, 43010354], [43011290, 43011467], [43011600, 43011798], [43011874, 43011985], [43012198, 43012303], [43012626, 43012784], [43013399, 43013726], [43024995, 43025082]] [[43003447, 43003554], [43003781, 43003867], [43004356, 43004446], [43005393, 43005919], [43006186, 43006392], [43008969, 43009097], [43009423, 43009610], [43010040, 43010141], [43010279, 43010354], [43011290, 43011467], [43011600, 43011798], [43011874, 43011985], [43012198, 43012303], [43012626, 43012784], [43013399, 43013712]]
ENST00000590129 [[43003727, 43003867], [43004356, 43004446], [43005393, 43005946], [43006186, 43006392], [43008969, 43009097], [43009423, 43009610], [43010040, 43010141], [43010279, 43010354], [43011290, 43011467], [43011600, 43011798], [43011874, 43011985], [43012198, 43012303], [43012626, 43012784], [43013399, 43013739]] [[43003767, 43003867], [43004356, 43004446], [43005393, 43005946], [43006186, 43006392], [43008969, 43009097], [43009423, 43009610], [43010040, 43010141], [43010279, 43010354], [43011290, 43011467], [43011600, 43011798], [43011874, 43011985], [43012198, 43012303], [43012626, 43012784], [43013399, 43013739]]
ENST00000585687 [[43009689, 43010141], [43010279, 43010354], [43011290, 43011344]] None
NM_001264573 [[43002078, 43003867], [43004356, 43004446], [43005393, 43005946], [43006186, 43006392], [43008969, 43009097], [43009423, 43009610], [43010040, 43010141], [43010279, 43010354], [43011290, 43011467], [43011600, 43011798], [43011874, 43011985], [43012198, 43012303], [43012626, 43012784], [43013399, 43013726], [43024995, 43025079]] [[43003767, 43003867], [43004356, 43004446], [43005393, 43005946], [43006186, 43006392], [43008969, 43009097], [43009423, 43009610], [43010040, 43010141], [43010279, 43010354], [43011290, 43011467], [43011600, 43011798], [43011874, 43011985], [43012198, 43012303], [43012626, 43012784], [43013399, 43013712]]
NM_001265577 [[43002078, 43003554], [43003781, 43003867], [43004356, 43004446], [43005393, 43005946], [43006186, 43006392], [43008969, 43009097], [43009423, 43009574], [43010040, 43010141], [43010279, 43010354], [43011290, 43011467], [43011600, 43011798], [43011874, 43011985], [43012198, 43012303], [43012626, 43012784], [43013399, 43013726], [43024995, 43025079]] [[43003447, 43003554], [43003781, 43003867], [43004356, 43004446], [43005393, 43005946], [43006186, 43006392], [43008969, 43009097], [43009423, 43009574], [43010040, 43010141], [43010279, 43010354], [43011290, 43011467], [43011600, 43011798], [43011874, 43011985], [43012198, 43012303], [43012626, 43012784], [43013399, 43013712]]
Promoter
Chrom Start End Description
chr17 43010037 43010041 CAGE_peak_3_at_KIF18B_5end
chr17 43013396 43013400 CAGE_peak_2_at_KIF18B_5end
chr17 43025020 43025149 CAGE_peak_1_at_KIF18B_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr17 GH17I045029 45029591 45032728 1.14 [{'connected_gene': 'DCAKD', 'score': 31.22}, {'connected_gene': 'NMT1', 'score': 12.34}, {'connected_gene': 'KIF18B', 'score': 11.66}, {'connected_gene': 'GFAP', 'score': 11.62}, {'connected_gene': 'C1QL1', 'score': 11.21}, {'connected_gene': 'HEXIM2', 'score': 10.98}, {'connected_gene': 'ENSG00000224505', 'score': 10.97}, {'connected_gene': 'EFTUD2', 'score': 10.6}, {'connected_gene': 'CCDC103', 'score': 10.6}, {'connected_gene': 'FAM187A', 'score': 10.6}, {'connected_gene': 'PLCD3', 'score': 8.92}, {'connected_gene': 'LRRC37A4P', 'score': 6.15}, {'connected_gene': 'GC17M045043', 'score': 0.39}, {'connected_gene': 'GC17M045006', 'score': 0.37}]
chr17 GH17I045020 45020155 45022693 1.36 [{'connected_gene': 'DCAKD', 'score': 27.36}, {'connected_gene': 'NMT1', 'score': 12.2}, {'connected_gene': 'C1QL1', 'score': 11.87}, {'connected_gene': 'GFAP', 'score': 11.7}, {'connected_gene': 'EFTUD2', 'score': 11.59}, {'connected_gene': 'CCDC103', 'score': 11.59}, {'connected_gene': 'FAM187A', 'score': 11.59}, {'connected_gene': 'KIF18B', 'score': 11.34}, {'connected_gene': 'HEXIM2', 'score': 11.08}, {'connected_gene': 'ENSG00000224505', 'score': 11.07}, {'connected_gene': 'MEIOC', 'score': 9.31}, {'connected_gene': 'GC17M045006', 'score': 0.44}, {'connected_gene': 'GC17M045043', 'score': 0.34}]
chr17 GH17I045036 45036673 45036822 0.52 [{'connected_gene': 'DCAKD', 'score': 12.34}, {'connected_gene': 'KIF18B', 'score': 11.65}, {'connected_gene': 'GFAP', 'score': 11.61}, {'connected_gene': 'C1QL1', 'score': 11.21}, {'connected_gene': 'HEXIM2', 'score': 10.98}, {'connected_gene': 'ENSG00000224505', 'score': 10.98}, {'connected_gene': 'EFTUD2', 'score': 10.6}, {'connected_gene': 'CCDC103', 'score': 10.6}, {'connected_gene': 'FAM187A', 'score': 10.6}, {'connected_gene': 'GC17M045043', 'score': 0.44}, {'connected_gene': 'GC17M045006', 'score': 0.34}]
chr17 GH17I045034 45034375 45035355 0.2 [{'connected_gene': 'DCAKD', 'score': 12.31}, {'connected_gene': 'KIF18B', 'score': 11.65}, {'connected_gene': 'GFAP', 'score': 11.61}, {'connected_gene': 'C1QL1', 'score': 11.21}, {'connected_gene': 'HEXIM2', 'score': 10.98}, {'connected_gene': 'ENSG00000224505', 'score': 10.98}, {'connected_gene': 'EFTUD2', 'score': 10.6}, {'connected_gene': 'CCDC103', 'score': 10.6}, {'connected_gene': 'FAM187A', 'score': 10.6}, {'connected_gene': 'GC17M045043', 'score': 0.39}, {'connected_gene': 'GC17M045006', 'score': 0.34}]
chr17 GH17I045009 45009170 45011285 0.57 [{'connected_gene': 'DCAKD', 'score': 24.78}, {'connected_gene': 'KIF18B', 'score': 12.28}, {'connected_gene': 'C1QL1', 'score': 11.74}, {'connected_gene': 'EFTUD2', 'score': 11.66}, {'connected_gene': 'CCDC103', 'score': 11.66}, {'connected_gene': 'FAM187A', 'score': 11.66}, {'connected_gene': 'GFAP', 'score': 11.65}, {'connected_gene': 'NMT1', 'score': 11.45}, {'connected_gene': 'PLCD3', 'score': 7.97}, {'connected_gene': 'GC17M045006', 'score': 0.77}, {'connected_gene': 'GC17M044982', 'score': 0.31}]
chr17 GH17I045003 45003114 45005058 0.38 [{'connected_gene': 'DCAKD', 'score': 23.98}, {'connected_gene': 'KIF18B', 'score': 12.29}, {'connected_gene': 'C1QL1', 'score': 11.68}, {'connected_gene': 'EFTUD2', 'score': 11.68}, {'connected_gene': 'CCDC103', 'score': 11.68}, {'connected_gene': 'FAM187A', 'score': 11.68}, {'connected_gene': 'GFAP', 'score': 11.66}, {'connected_gene': 'NMT1', 'score': 11.43}, {'connected_gene': 'GC17M045006', 'score': 0.44}, {'connected_gene': 'GC17M044982', 'score': 0.34}]
chr17 GH17I044977 44977180 44982418 1.34 [{'connected_gene': 'UBTF', 'score': 38.91}, {'connected_gene': 'LINC02210', 'score': 26.79}, {'connected_gene': 'GJC1', 'score': 21.82}, {'connected_gene': 'NMT1', 'score': 20.89}, {'connected_gene': 'EFTUD2', 'score': 19.18}, {'connected_gene': 'MAP3K14-AS1', 'score': 19.11}, {'connected_gene': 'LRRC37A4P', 'score': 17.77}, {'connected_gene': 'ASB16-AS1', 'score': 14.37}, {'connected_gene': 'ENSG00000266918', 'score': 13.57}, {'connected_gene': 'KIF18B', 'score': 12.24}, {'connected_gene': 'C17orf53', 'score': 11.92}, {'connected_gene': 'FAM171A2', 'score': 11.8}, {'connected_gene': 'GFAP', 'score': 11.59}, {'connected_gene': 'GPATCH8', 'score': 10.63}, {'connected_gene': 'ENSG00000267160', 'score': 10.57}, {'connected_gene': 'DCAKD', 'score': 10.44}, {'connected_gene': 'HEXIM2', 'score': 10.38}, {'connected_gene': 'ADAM11', 'score': 9.89}, {'connected_gene': 'DBF4B', 'score': 8.71}, {'connected_gene': 'ACBD4', 'score': 5.49}, {'connected_gene': 'FAM187A', 'score': 5.0}, {'connected_gene': 'GC17P044983', 'score': 0.77}, {'connected_gene': 'C1QL1', 'score': 0.39}, {'connected_gene': 'GC17P044954', 'score': 0.34}]
chr17 GH17I044359 44359909 44364382 1.91 [{'connected_gene': 'FAM171A2', 'score': 555.03}, {'connected_gene': 'GRN', 'score': 9.78}, {'connected_gene': 'KIF18B', 'score': 5.75}, {'connected_gene': 'FAM187A', 'score': 4.17}, {'connected_gene': 'GC17P044353', 'score': 0.44}, {'connected_gene': 'GC17P044352', 'score': 0.44}]
chr17 GH17I045006 45006984 45007326 0.87 [{'connected_gene': 'KIF18B', 'score': 12.29}, {'connected_gene': 'C1QL1', 'score': 11.68}, {'connected_gene': 'EFTUD2', 'score': 11.67}, {'connected_gene': 'CCDC103', 'score': 11.67}, {'connected_gene': 'FAM187A', 'score': 11.67}, {'connected_gene': 'GFAP', 'score': 11.65}, {'connected_gene': 'NMT1', 'score': 11.45}, {'connected_gene': 'DCAKD', 'score': 11.42}, {'connected_gene': 'GC17M045006', 'score': 0.44}, {'connected_gene': 'GC17M044982', 'score': 0.34}]
chr17 GH17I044945 44945001 44945400 0.2 [{'connected_gene': 'KIF18B', 'score': 0.77}, {'connected_gene': 'MIR6783', 'score': 0.39}]
chr17 GH17I044976 44976015 44976776 0.52 [{'connected_gene': 'GJC1', 'score': 15.17}, {'connected_gene': 'KIF18B', 'score': 12.05}, {'connected_gene': 'GFAP', 'score': 11.47}, {'connected_gene': 'NMT1', 'score': 10.45}, {'connected_gene': 'DCAKD', 'score': 10.44}, {'connected_gene': 'C1QL1', 'score': 0.44}, {'connected_gene': 'GC17P044983', 'score': 0.44}, {'connected_gene': 'GC17P044954', 'score': 0.34}]
chr17 GH17I045000 45000953 45001920 0.31 [{'connected_gene': 'C1QL1', 'score': 12.28}, {'connected_gene': 'GFAP', 'score': 11.43}, {'connected_gene': 'KIF18B', 'score': 11.34}, {'connected_gene': 'NMT1', 'score': 10.64}, {'connected_gene': 'DCAKD', 'score': 10.63}, {'connected_gene': 'GC17M045006', 'score': 0.39}, {'connected_gene': 'GC17M044982', 'score': 0.37}]
chr17 GH17I044942 44942001 44942200 0.46 [{'connected_gene': 'MIR6783', 'score': 0.44}, {'connected_gene': 'KIF18B', 'score': 0.44}]
chr17 GH17I044939 44939876 44941044 0.76 [{'connected_gene': 'FAM187A', 'score': 7.22}, {'connected_gene': 'MIR6783', 'score': 0.44}, {'connected_gene': 'KIF18B', 'score': 0.44}]
chr17 GH17I044946 44946295 44948611 2.06 [{'connected_gene': 'ENSG00000267334', 'score': 550.77}, {'connected_gene': 'KIF18B', 'score': 550.77}, {'connected_gene': 'EFTUD2', 'score': 26.48}, {'connected_gene': 'TMUB2', 'score': 19.07}, {'connected_gene': 'ASB16-AS1', 'score': 18.31}, {'connected_gene': 'MAP3K14', 'score': 11.44}, {'connected_gene': 'ENSG00000224505', 'score': 10.78}, {'connected_gene': 'GPATCH8', 'score': 10.73}, {'connected_gene': 'GJC1', 'score': 10.41}, {'connected_gene': 'UBTF', 'score': 10.04}, {'connected_gene': 'PLEKHM1', 'score': 9.86}, {'connected_gene': 'FAM187A', 'score': 7.2}, {'connected_gene': 'DBF4B', 'score': 6.25}, {'connected_gene': 'MIR6783', 'score': 0.39}]

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