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
ENST00000309880 [[65122237, 65122428], [65123263, 65125084]] [[65123279, 65124695]]
NM_145719 [[65122281, 65122428], [65123263, 65125084]] [[65123279, 65124695]]
Promoter
Chrom Start End Description
chr11 65122216 65122236 CAGE_peak_1_at_TIGD3_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr11 GH11I065277 65277398 65281894 1.08 [{'connected_gene': 'LOC728975', 'score': 46.72}, {'connected_gene': 'CDC42EP2', 'score': 12.49}, {'connected_gene': 'DPF2', 'score': 12.1}, {'connected_gene': 'SLC25A45', 'score': 11.33}, {'connected_gene': 'FRMD8', 'score': 11.32}, {'connected_gene': 'TIGD3', 'score': 10.95}, {'connected_gene': 'CAPN1', 'score': 10.94}, {'connected_gene': 'PGAM1P8', 'score': 10.94}, {'connected_gene': 'ENSG00000254501', 'score': 10.53}, {'connected_gene': 'TM7SF2', 'score': 10.53}, {'connected_gene': 'VPS51', 'score': 10.51}, {'connected_gene': 'SPDYC', 'score': 10.25}, {'connected_gene': 'POLA2', 'score': 9.11}, {'connected_gene': 'LOC105369344', 'score': 0.28}]
chr11 GH11I065636 65636585 65644779 2.42 [{'connected_gene': 'SIPA1', 'score': 573.98}, {'connected_gene': 'EIF1AD', 'score': 38.88}, {'connected_gene': 'RBM14', 'score': 38.86}, {'connected_gene': 'SF1', 'score': 37.76}, {'connected_gene': 'ZFPL1', 'score': 33.44}, {'connected_gene': 'RBM4', 'score': 31.85}, {'connected_gene': 'PCNX3', 'score': 31.56}, {'connected_gene': 'POLA2', 'score': 26.33}, {'connected_gene': 'SART1', 'score': 24.09}, {'connected_gene': 'MUS81', 'score': 23.87}, {'connected_gene': 'ENSG00000245156', 'score': 23.26}, {'connected_gene': 'ENSG00000255320', 'score': 22.45}, {'connected_gene': 'SSSCA1', 'score': 22.28}, {'connected_gene': 'KAT5', 'score': 21.34}, {'connected_gene': 'KCNK7', 'score': 20.92}, {'connected_gene': 'ATG2A', 'score': 19.67}, {'connected_gene': 'MRPL11', 'score': 19.62}, {'connected_gene': 'RNASEH2C', 'score': 19.61}, {'connected_gene': 'FRMD8', 'score': 18.77}, {'connected_gene': 'MAP3K11', 'score': 17.95}, {'connected_gene': 'SF3B2', 'score': 17.74}, {'connected_gene': 'RAB1B', 'score': 14.54}, {'connected_gene': 'LOC105369352', 'score': 13.75}, {'connected_gene': 'RELA', 'score': 13.6}, {'connected_gene': 'EHBP1L1', 'score': 13.0}, {'connected_gene': 'SYVN1', 'score': 12.76}, {'connected_gene': 'TIGD3', 'score': 12.35}, {'connected_gene': 'SCYL1', 'score': 12.19}, {'connected_gene': 'NAALADL1', 'score': 11.94}, {'connected_gene': 'FAM89B', 'score': 11.3}, {'connected_gene': 'ENSG00000255038', 'score': 11.08}, {'connected_gene': 'VPS51', 'score': 10.86}, {'connected_gene': 'CFL1', 'score': 10.37}, {'connected_gene': 'SNX32', 'score': 10.34}, {'connected_gene': 'MEN1', 'score': 10.1}, {'connected_gene': 'BRMS1', 'score': 10.04}, {'connected_gene': 'CTSW', 'score': 7.32}, {'connected_gene': 'PACS1', 'score': 5.18}, {'connected_gene': 'AP5B1', 'score': 4.27}, {'connected_gene': 'PIR31729', 'score': 0.44}]
chr11 GH11I065338 65338234 65339386 0.66 [{'connected_gene': 'DPF2', 'score': 0.44}, {'connected_gene': 'TIGD3', 'score': 0.37}]
chr11 GH11I065333 65333201 65335667 2.18 [{'connected_gene': 'DPF2', 'score': 550.77}, {'connected_gene': 'LOC105369352', 'score': 5.34}, {'connected_gene': 'TIGD3', 'score': 0.34}]
chr11 GH11I065414 65414759 65433603 2.43 [{'connected_gene': 'NEAT1', 'score': 621.1}, {'connected_gene': 'ENSG00000278050', 'score': 550.77}, {'connected_gene': 'ENSG00000278144', 'score': 550.77}, {'connected_gene': 'ENSG00000277599', 'score': 550.77}, {'connected_gene': 'GC11P065529', 'score': 550.77}, {'connected_gene': 'SF1', 'score': 122.53}, {'connected_gene': 'ZFPL1', 'score': 104.38}, {'connected_gene': 'EIF1AD', 'score': 100.29}, {'connected_gene': 'POLA2', 'score': 94.05}, {'connected_gene': 'PCNX3', 'score': 92.79}, {'connected_gene': 'LOC105369352', 'score': 88.99}, {'connected_gene': 'MUS81', 'score': 79.86}, {'connected_gene': 'KAT5', 'score': 78.49}, {'connected_gene': 'SART1', 'score': 75.75}, {'connected_gene': 'RELA', 'score': 67.36}, {'connected_gene': 'ENSG00000255320', 'score': 67.33}, {'connected_gene': 'ENSG00000245156', 'score': 61.64}, {'connected_gene': 'ENSG00000254461', 'score': 57.96}, {'connected_gene': 'FRMD8', 'score': 50.93}, {'connected_gene': 'SF3B2', 'score': 50.6}, {'connected_gene': 'FAU', 'score': 48.27}, {'connected_gene': 'ENSG00000255038', 'score': 46.75}, {'connected_gene': 'SCYL1', 'score': 40.16}, {'connected_gene': 'NAALADL1', 'score': 32.4}, {'connected_gene': 'SSSCA1', 'score': 28.83}, {'connected_gene': 'ATG2A', 'score': 26.83}, {'connected_gene': 'ZNHIT2', 'score': 25.36}, {'connected_gene': 'SYVN1', 'score': 22.96}, {'connected_gene': 'ENSG00000269038', 'score': 22.26}, {'connected_gene': 'SSSCA1-AS1', 'score': 21.88}, {'connected_gene': 'RNASEH2C', 'score': 21.88}, {'connected_gene': 'RAB1B', 'score': 21.84}, {'connected_gene': 'MEN1', 'score': 20.75}, {'connected_gene': 'DPF2', 'score': 19.76}, {'connected_gene': 'MAP3K11', 'score': 18.69}, {'connected_gene': 'AP5B1', 'score': 18.38}, {'connected_gene': 'B4GAT1', 'score': 14.91}, {'connected_gene': 'VPS51', 'score': 13.42}, {'connected_gene': 'NRXN2', 'score': 13.05}, {'connected_gene': 'KLC2', 'score': 12.4}, {'connected_gene': 'EHBP1L1', 'score': 12.35}, {'connected_gene': 'BRMS1', 'score': 11.93}, {'connected_gene': 'SIPA1', 'score': 11.4}, {'connected_gene': 'SAC3D1', 'score': 10.99}, {'connected_gene': 'PPP2R5B', 'score': 10.6}, {'connected_gene': 'LTBP3', 'score': 10.1}, {'connected_gene': 'MALAT1', 'score': 10.08}, {'connected_gene': 'MRPL49', 'score': 10.07}, {'connected_gene': 'SNX32', 'score': 9.8}, {'connected_gene': 'CD248', 'score': 9.73}, {'connected_gene': 'TIGD3', 'score': 9.56}, {'connected_gene': 'BATF2', 'score': 9.28}, {'connected_gene': 'KCNK7', 'score': 6.66}, {'connected_gene': 'KRT8P26', 'score': 4.82}, {'connected_gene': 'CDC42EP2', 'score': 4.67}, {'connected_gene': 'ARL2', 'score': 4.59}, {'connected_gene': 'LOC101927789', 'score': 4.54}, {'connected_gene': 'TSGA10IP', 'score': 3.92}, {'connected_gene': 'SLC25A45', 'score': 2.61}, {'connected_gene': 'GC11P065418', 'score': 0.44}, {'connected_gene': 'GC11P065531', 'score': 0.37}]
chr11 GH11I065361 65361734 65363499 1 [{'connected_gene': 'NEAT1', 'score': 4.44}, {'connected_gene': 'SPDYC', 'score': 4.34}, {'connected_gene': 'ENSG00000255478', 'score': 0.77}, {'connected_gene': 'TIGD3', 'score': 0.44}]
chr11 GH11I065400 65400210 65402645 0.89 [{'connected_gene': 'NEAT1', 'score': 15.5}, {'connected_gene': 'ENSG00000255478', 'score': 12.56}, {'connected_gene': 'TIGD3', 'score': 11.43}, {'connected_gene': 'MIR612', 'score': 11.4}, {'connected_gene': 'LOC728975', 'score': 5.29}, {'connected_gene': 'BANF1', 'score': 4.32}, {'connected_gene': 'FRMD8', 'score': 0.39}, {'connected_gene': 'GC11P065418', 'score': 0.37}]
chr11 GH11I065437 65437182 65438565 0.66 [{'connected_gene': 'NEAT1', 'score': 13.69}, {'connected_gene': 'ENSG00000255478', 'score': 11.79}, {'connected_gene': 'TIGD3', 'score': 10.99}, {'connected_gene': 'CDC42EP2', 'score': 10.68}, {'connected_gene': 'LOC728975', 'score': 5.25}, {'connected_gene': 'GC11P065531', 'score': 0.44}, {'connected_gene': 'ENSG00000277599', 'score': 0.39}, {'connected_gene': 'GC11P065418', 'score': 0.37}]
chr11 GH11I065364 65364801 65365000 0.2 [{'connected_gene': 'NEAT1', 'score': 4.88}, {'connected_gene': 'ENSG00000255478', 'score': 0.77}, {'connected_gene': 'TIGD3', 'score': 0.39}]
chr11 GH11I064884 64884930 64886670 1.72 [{'connected_gene': 'ATG2A', 'score': 12.35}, {'connected_gene': 'EHD1', 'score': 12.23}, {'connected_gene': 'PCNX3', 'score': 11.94}, {'connected_gene': 'SF1', 'score': 7.22}, {'connected_gene': 'CDC42BPG', 'score': 6.82}, {'connected_gene': 'TIGD3', 'score': 3.73}, {'connected_gene': 'RASGRP2', 'score': 2.18}, {'connected_gene': 'MAP4K2', 'score': 1.64}, {'connected_gene': 'PYGM', 'score': 1.22}, {'connected_gene': 'RPS16P6', 'score': 0.77}]
chr11 GH11I065353 65353403 65356039 1.95 [{'connected_gene': 'TIGD3', 'score': 550.77}, {'connected_gene': 'LOC728975', 'score': 7.25}, {'connected_gene': 'MEN1', 'score': 5.93}, {'connected_gene': 'DPF2', 'score': 5.49}]
chr11 GH11I065375 65375150 65375299 0.31 [{'connected_gene': 'TIGD3', 'score': 12.7}, {'connected_gene': 'MIR612', 'score': 11.96}, {'connected_gene': 'CDC42EP2', 'score': 11.48}, {'connected_gene': 'SLC25A45', 'score': 0.44}, {'connected_gene': 'ENSG00000255478', 'score': 0.44}]
chr11 GH11I065564 65564766 65567376 1.23 [{'connected_gene': 'CTSW', 'score': 18.67}, {'connected_gene': 'PCNX3', 'score': 13.01}, {'connected_gene': 'KCNK7', 'score': 12.31}, {'connected_gene': 'MAP3K11', 'score': 11.72}, {'connected_gene': 'TIGD3', 'score': 10.7}, {'connected_gene': 'NEAT1', 'score': 10.59}, {'connected_gene': 'CDC42EP2', 'score': 10.22}, {'connected_gene': 'SIPA1', 'score': 8.85}, {'connected_gene': 'EHBP1L1', 'score': 6.24}, {'connected_gene': 'EIF1AD', 'score': 2.12}, {'connected_gene': 'SLC25A45', 'score': 2.09}, {'connected_gene': 'ENSG00000279093', 'score': 0.77}, {'connected_gene': 'GC11M065567', 'score': 0.77}, {'connected_gene': 'SSSCA1-AS1', 'score': 0.77}]
chr11 GH11I064846 64846749 64867357 1.83 [{'connected_gene': 'EHD1', 'score': 55.42}, {'connected_gene': 'MAP4K2', 'score': 13.31}, {'connected_gene': 'MIR192', 'score': 12.44}, {'connected_gene': 'MEN1', 'score': 12.2}, {'connected_gene': 'MAJIN', 'score': 10.5}, {'connected_gene': 'GPHA2', 'score': 10.45}, {'connected_gene': 'MAP3K11', 'score': 9.76}, {'connected_gene': 'CDC42EP2', 'score': 7.62}, {'connected_gene': 'CDC42BPG', 'score': 6.02}, {'connected_gene': 'NEAT1', 'score': 5.49}, {'connected_gene': 'ARL2', 'score': 5.35}, {'connected_gene': 'SNX15', 'score': 4.42}, {'connected_gene': 'LOC101927789', 'score': 4.27}, {'connected_gene': 'ATG2A', 'score': 4.1}, {'connected_gene': 'SF1', 'score': 3.8}, {'connected_gene': 'RASGRP2', 'score': 2.39}, {'connected_gene': 'FAU', 'score': 2.14}, {'connected_gene': 'BATF2', 'score': 1.7}, {'connected_gene': 'TIGD3', 'score': 1.59}, {'connected_gene': 'RPS16P6', 'score': 0.34}]
chr11 GH11I065567 65567675 65579673 2.57 [{'connected_gene': 'SSSCA1', 'score': 571.4}, {'connected_gene': 'EHBP1L1', 'score': 563.92}, {'connected_gene': 'FAM89B', 'score': 550.77}, {'connected_gene': 'PCNX3', 'score': 49.78}, {'connected_gene': 'SF1', 'score': 45.32}, {'connected_gene': 'EIF1AD', 'score': 40.15}, {'connected_gene': 'POLA2', 'score': 38.67}, {'connected_gene': 'LOC105369352', 'score': 30.44}, {'connected_gene': 'NEAT1', 'score': 28.76}, {'connected_gene': 'ZFPL1', 'score': 27.15}, {'connected_gene': 'SART1', 'score': 25.58}, {'connected_gene': 'MUS81', 'score': 24.9}, {'connected_gene': 'RELA', 'score': 24.08}, {'connected_gene': 'ENSG00000245156', 'score': 23.07}, {'connected_gene': 'ENSG00000255320', 'score': 21.71}, {'connected_gene': 'KAT5', 'score': 21.34}, {'connected_gene': 'SF3B2', 'score': 21.16}, {'connected_gene': 'SCYL1', 'score': 20.68}, {'connected_gene': 'ENSG00000255038', 'score': 20.33}, {'connected_gene': 'ATG2A', 'score': 18.84}, {'connected_gene': 'FRMD8', 'score': 18.53}, {'connected_gene': 'KCNK7', 'score': 14.44}, {'connected_gene': 'TIGD3', 'score': 13.28}, {'connected_gene': 'MAP3K11', 'score': 13.02}, {'connected_gene': 'SYVN1', 'score': 12.94}, {'connected_gene': 'FAU', 'score': 11.4}, {'connected_gene': 'ZNHIT2', 'score': 11.24}, {'connected_gene': 'CDC42EP2', 'score': 10.22}, {'connected_gene': 'MALAT1', 'score': 10.07}, {'connected_gene': 'NAALADL1', 'score': 9.94}, {'connected_gene': 'ENSG00000254461', 'score': 9.71}, {'connected_gene': 'RNASEH2C', 'score': 7.42}, {'connected_gene': 'TSGA10IP', 'score': 4.71}, {'connected_gene': 'SIPA1', 'score': 2.66}, {'connected_gene': 'AP5B1', 'score': 1.76}, {'connected_gene': 'SSSCA1-AS1', 'score': 0.77}, {'connected_gene': 'GC11M065567', 'score': 0.77}]
chr11 GH11I065365 65365910 65368025 1.3 [{'connected_gene': 'ENSG00000255478', 'score': 550.77}, {'connected_gene': 'LOC728975', 'score': 8.48}, {'connected_gene': 'SLC25A45', 'score': 4.74}, {'connected_gene': 'TIGD3', 'score': 0.39}]
chr11 GH11I065438 65438882 65449579 1.37 [{'connected_gene': 'GC11P065523', 'score': 550.77}, {'connected_gene': 'GC11P065531', 'score': 550.77}, {'connected_gene': 'GC11P065530', 'score': 550.77}, {'connected_gene': 'MIR612', 'score': 550.77}, {'connected_gene': 'ENSG00000275948', 'score': 550.77}, {'connected_gene': 'NEAT1', 'score': 28.49}, {'connected_gene': 'SF1', 'score': 17.11}, {'connected_gene': 'RELA', 'score': 13.59}, {'connected_gene': 'VPS51', 'score': 13.42}, {'connected_gene': 'EIF1AD', 'score': 13.05}, {'connected_gene': 'FRMD8', 'score': 12.65}, {'connected_gene': 'SLC25A45', 'score': 12.64}, {'connected_gene': 'ENSG00000255320', 'score': 12.44}, {'connected_gene': 'MALAT1', 'score': 12.41}, {'connected_gene': 'PCNX3', 'score': 12.33}, {'connected_gene': 'POLA2', 'score': 12.28}, {'connected_gene': 'ZFPL1', 'score': 12.18}, {'connected_gene': 'SYVN1', 'score': 11.83}, {'connected_gene': 'ENSG00000255478', 'score': 11.78}, {'connected_gene': 'FAU', 'score': 11.48}, {'connected_gene': 'KAT5', 'score': 11.32}, {'connected_gene': 'MUS81', 'score': 11.29}, {'connected_gene': 'ENSG00000245156', 'score': 11.26}, {'connected_gene': 'TIGD3', 'score': 11.18}, {'connected_gene': 'SART1', 'score': 11.08}, {'connected_gene': 'CDC42EP2', 'score': 10.68}, {'connected_gene': 'SCYL1', 'score': 10.43}, {'connected_gene': 'MRPL49', 'score': 10.07}, {'connected_gene': 'ATG2A', 'score': 9.73}, {'connected_gene': 'LOC101927789', 'score': 7.93}, {'connected_gene': 'LOC728975', 'score': 5.89}, {'connected_gene': 'BANF1', 'score': 5.6}, {'connected_gene': 'SLC22A20P', 'score': 4.17}, {'connected_gene': 'GC11P065418', 'score': 0.31}]
chr11 GH11I065650 65650024 65655399 1.78 [{'connected_gene': 'GC11P065714', 'score': 550.77}, {'connected_gene': 'PIR32368', 'score': 550.77}, {'connected_gene': 'PIR54939', 'score': 550.77}, {'connected_gene': 'GC11P065653', 'score': 550.77}, {'connected_gene': 'GC11P065710', 'score': 550.77}, {'connected_gene': 'PIR38401', 'score': 550.77}, {'connected_gene': 'MAP3K11', 'score': 22.54}, {'connected_gene': 'EIF1AD', 'score': 21.38}, {'connected_gene': 'PCNX3', 'score': 19.89}, {'connected_gene': 'SIPA1', 'score': 19.81}, {'connected_gene': 'RNASEH2C', 'score': 19.26}, {'connected_gene': 'RBM14', 'score': 18.49}, {'connected_gene': 'SF1', 'score': 17.46}, {'connected_gene': 'POLA2', 'score': 16.68}, {'connected_gene': 'KAT5', 'score': 16.47}, {'connected_gene': 'RBM4', 'score': 15.96}, {'connected_gene': 'ZFPL1', 'score': 15.75}, {'connected_gene': 'SART1', 'score': 14.07}, {'connected_gene': 'SF3B2', 'score': 13.02}, {'connected_gene': 'MUS81', 'score': 11.76}, {'connected_gene': 'FRMD8', 'score': 11.71}, {'connected_gene': 'ENSG00000255320', 'score': 11.52}, {'connected_gene': 'LOC105369352', 'score': 11.32}, {'connected_gene': 'ENSG00000255038', 'score': 11.2}, {'connected_gene': 'SCYL1', 'score': 11.14}, {'connected_gene': 'ENSG00000245156', 'score': 10.89}, {'connected_gene': 'SSSCA1', 'score': 10.41}, {'connected_gene': 'AP5B1', 'score': 10.22}, {'connected_gene': 'CCS', 'score': 9.8}, {'connected_gene': 'ATG2A', 'score': 9.69}, {'connected_gene': 'EHBP1L1', 'score': 9.61}, {'connected_gene': 'RELA', 'score': 9.52}, {'connected_gene': 'PACS1', 'score': 6.27}, {'connected_gene': 'SLC25A45', 'score': 6.13}, {'connected_gene': 'SNX32', 'score': 4.46}, {'connected_gene': 'TIGD3', 'score': 4.43}, {'connected_gene': 'GAL3ST3', 'score': 4.12}, {'connected_gene': 'CTSW', 'score': 3.55}, {'connected_gene': 'CDC42EP2', 'score': 3.29}, {'connected_gene': 'KCNK7', 'score': 2.66}, {'connected_gene': 'PIR32962', 'score': 0.77}]
chr11 GH11I065357 65357168 65359251 1.04 [{'connected_gene': 'ENSG00000254461', 'score': 16.54}, {'connected_gene': 'LOC105369352', 'score': 16.21}, {'connected_gene': 'ENSG00000255038', 'score': 13.5}, {'connected_gene': 'MEN1', 'score': 13.26}, {'connected_gene': 'SSSCA1-AS1', 'score': 12.76}, {'connected_gene': 'ZFPL1', 'score': 12.56}, {'connected_gene': 'SF3B2', 'score': 11.63}, {'connected_gene': 'PCNX3', 'score': 10.39}, {'connected_gene': 'SF1', 'score': 10.11}, {'connected_gene': 'RNASEH2C', 'score': 9.94}, {'connected_gene': 'ENSG00000245156', 'score': 9.76}, {'connected_gene': 'TIGD3', 'score': 5.59}, {'connected_gene': 'POLA2', 'score': 4.85}, {'connected_gene': 'ENSG00000255478', 'score': 0.44}]

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