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
ENST00000448083 [[65659519, 65660767], [65667711, 65667890]] [[65660356, 65660767], [65667711, 65667810]]
ENST00000312562 [[65659690, 65660767], [65661484, 65661592], [65664279, 65664477], [65667711, 65667997]] [[65660356, 65660767], [65661484, 65661592], [65664279, 65664477], [65667711, 65667810]]
ENST00000531493 [[65659944, 65660767], [65664279, 65664477], [65667711, 65667890]] [[65660356, 65660767], [65664279, 65664477], [65667711, 65667810]]
ENST00000532401 [[65660115, 65660767], [65661484, 65661587], [65664279, 65664477], [65667711, 65667890]] [[65660759, 65660767], [65661484, 65661587], [65664279, 65664477], [65667711, 65667810]]
ENST00000534222 [[65660474, 65660767], [65661484, 65661592], [65667861, 65668044]] [[65660474, 65660512]]
NM_005438 [[65659606, 65660767], [65661484, 65661592], [65664279, 65664477], [65667711, 65667997]] [[65660356, 65660767], [65661484, 65661592], [65664279, 65664477], [65667711, 65667810]]
NM_001300855 [[65659606, 65660767], [65661484, 65661587], [65664279, 65664477], [65667711, 65667997]] [[65660759, 65660767], [65661484, 65661587], [65664279, 65664477], [65667711, 65667810]]
NM_001300844 [[65659606, 65660767], [65664279, 65664477], [65667711, 65667997]] [[65660356, 65660767], [65664279, 65664477], [65667711, 65667810]]
NM_001300856 [[65659606, 65660767], [65661484, 65661592], [65667711, 65667997]] [[65660356, 65660767], [65661484, 65661592], [65667711, 65667810]]
NM_001300857 [[65659606, 65660767], [65667711, 65667997]] [[65660356, 65660767], [65667711, 65667810]]
NR_125339 [[65659606, 65660767], [65661484, 65661592], [65667861, 65667997]] None
Promoter
Chrom Start End Description
chr11 65667846 65667868 CAGE_peak_1_at_FOSL1_5end
chr11 65667884 65667895 CAGE_peak_2_at_FOSL1_5end
chr11 65668011 65668020 CAGE_peak_3_at_FOSL1_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr11 GH11I065932 65932630 65932759 0.64 [{'connected_gene': 'FIBP', 'score': 12.36}, {'connected_gene': 'CCDC85B', 'score': 12.36}, {'connected_gene': 'CTSW', 'score': 12.33}, {'connected_gene': 'FOSL1', 'score': 11.93}, {'connected_gene': 'SART1', 'score': 11.91}, {'connected_gene': 'CFL1', 'score': 11.24}, {'connected_gene': 'MUS81', 'score': 11.23}, {'connected_gene': 'SNX32', 'score': 10.39}, {'connected_gene': 'PACS1', 'score': 9.6}, {'connected_gene': 'ENSG00000255320', 'score': 9.02}, {'connected_gene': 'LOC105369349', 'score': 0.39}, {'connected_gene': 'TSGA10IP', 'score': 0.39}]
chr11 GH11I065940 65940354 65942382 1.09 [{'connected_gene': 'SART1', 'score': 12.75}, {'connected_gene': 'DRAP1', 'score': 12.19}, {'connected_gene': 'C11orf68', 'score': 12.19}, {'connected_gene': 'FOSL1', 'score': 12.11}, {'connected_gene': 'CCDC85B', 'score': 11.67}, {'connected_gene': 'FIBP', 'score': 11.67}, {'connected_gene': 'CTSW', 'score': 11.33}, {'connected_gene': 'EFEMP2', 'score': 11.32}, {'connected_gene': 'CFL1', 'score': 11.3}, {'connected_gene': 'EIF1AD', 'score': 11.3}, {'connected_gene': 'BANF1', 'score': 11.3}, {'connected_gene': 'MUS81', 'score': 11.29}, {'connected_gene': 'CST6', 'score': 11.28}, {'connected_gene': 'TSGA10IP', 'score': 10.91}, {'connected_gene': 'LOC105369350', 'score': 0.77}, {'connected_gene': 'LOC105369349', 'score': 0.37}]
chr11 GH11I066014 66014696 66016980 1.1 [{'connected_gene': 'BANF1', 'score': 13.02}, {'connected_gene': 'CST6', 'score': 9.74}, {'connected_gene': 'FOSL1', 'score': 1.44}, {'connected_gene': 'CATSPER1', 'score': 0.39}]
chr11 GH11I065927 65927038 65929451 1.34 [{'connected_gene': 'EIF1AD', 'score': 23.09}, {'connected_gene': 'CST6', 'score': 18.14}, {'connected_gene': 'CCDC85B', 'score': 12.38}, {'connected_gene': 'FIBP', 'score': 12.38}, {'connected_gene': 'CTSW', 'score': 12.35}, {'connected_gene': 'SART1', 'score': 12.12}, {'connected_gene': 'FOSL1', 'score': 11.94}, {'connected_gene': 'CFL1', 'score': 11.36}, {'connected_gene': 'MUS81', 'score': 11.35}, {'connected_gene': 'BANF1', 'score': 11.25}, {'connected_gene': 'SNX32', 'score': 10.39}, {'connected_gene': 'PACS1', 'score': 9.74}, {'connected_gene': 'ENSG00000255038', 'score': 9.74}, {'connected_gene': 'ENSG00000255320', 'score': 9.02}, {'connected_gene': 'RELA', 'score': 4.86}, {'connected_gene': 'EHBP1L1', 'score': 2.94}, {'connected_gene': 'AP5B1', 'score': 1.72}, {'connected_gene': 'MAP3K11', 'score': 1.5}, {'connected_gene': 'LOC105369349', 'score': 0.44}, {'connected_gene': 'TSGA10IP', 'score': 0.37}]
chr11 GH11I065886 65886248 65904668 2.68 [{'connected_gene': 'FOSL1', 'score': 559.75}, {'connected_gene': 'FIBP', 'score': 554.55}, {'connected_gene': 'CCDC85B', 'score': 552.32}, {'connected_gene': 'SNX32', 'score': 68.65}, {'connected_gene': 'ENSG00000258297', 'score': 64.02}, {'connected_gene': 'EIF1AD', 'score': 63.47}, {'connected_gene': 'RBM14', 'score': 58.97}, {'connected_gene': 'MUS81', 'score': 56.98}, {'connected_gene': 'SART1', 'score': 55.66}, {'connected_gene': 'POLA2', 'score': 54.83}, {'connected_gene': 'CTSW', 'score': 51.18}, {'connected_gene': 'KAT5', 'score': 49.25}, {'connected_gene': 'ZFPL1', 'score': 47.51}, {'connected_gene': 'RBM4', 'score': 43.51}, {'connected_gene': 'PCNX3', 'score': 41.52}, {'connected_gene': 'ENSG00000254461', 'score': 40.96}, {'connected_gene': 'SF3B2', 'score': 40.58}, {'connected_gene': 'RELA', 'score': 39.91}, {'connected_gene': 'ENSG00000255320', 'score': 36.37}, {'connected_gene': 'LOC105369352', 'score': 31.47}, {'connected_gene': 'FAU', 'score': 31.06}, {'connected_gene': 'FRMD8', 'score': 27.41}, {'connected_gene': 'DPF2', 'score': 26.38}, {'connected_gene': 'ENSG00000245156', 'score': 23.58}, {'connected_gene': 'RNASEH2C', 'score': 22.43}, {'connected_gene': 'NAALADL1', 'score': 21.52}, {'connected_gene': 'RBM4B', 'score': 20.24}, {'connected_gene': 'ENSG00000255038', 'score': 20.0}, {'connected_gene': 'CCS', 'score': 18.22}, {'connected_gene': 'RAB1B', 'score': 15.6}, {'connected_gene': 'BBS1', 'score': 15.21}, {'connected_gene': 'CFL1', 'score': 15.2}, {'connected_gene': 'NEAT1', 'score': 14.48}, {'connected_gene': 'SSSCA1-AS1', 'score': 13.19}, {'connected_gene': 'SYVN1', 'score': 12.92}, {'connected_gene': 'SSSCA1', 'score': 12.89}, {'connected_gene': 'SCYL1', 'score': 12.65}, {'connected_gene': 'BANF1', 'score': 12.26}, {'connected_gene': 'ZNHIT2', 'score': 11.22}, {'connected_gene': 'KLC2', 'score': 11.19}, {'connected_gene': 'CST6', 'score': 11.05}, {'connected_gene': 'RCE1', 'score': 10.87}, {'connected_gene': 'ATG2A', 'score': 10.86}, {'connected_gene': 'NPAS4', 'score': 10.09}, {'connected_gene': 'CTSF', 'score': 10.05}, {'connected_gene': 'MALAT1', 'score': 9.93}, {'connected_gene': 'CD248', 'score': 9.75}, {'connected_gene': 'EFEMP2', 'score': 9.32}, {'connected_gene': 'TSGA10IP', 'score': 7.63}, {'connected_gene': 'OVOL1-AS1', 'score': 5.95}, {'connected_gene': 'DRAP1', 'score': 4.48}, {'connected_gene': 'RIN1', 'score': 3.28}, {'connected_gene': 'BRMS1', 'score': 2.64}, {'connected_gene': 'YIF1A', 'score': 2.47}, {'connected_gene': 'AP5B1', 'score': 2.34}, {'connected_gene': 'MAP3K11', 'score': 1.99}, {'connected_gene': 'C11orf68', 'score': 1.93}, {'connected_gene': 'EHBP1L1', 'score': 1.52}]
chr11 GH11I065550 65550530 65561853 2.73 [{'connected_gene': 'LTBP3', 'score': 550.77}, {'connected_gene': 'EIF1AD', 'score': 25.51}, {'connected_gene': 'ZFPL1', 'score': 23.22}, {'connected_gene': 'NEAT1', 'score': 18.98}, {'connected_gene': 'SF1', 'score': 17.76}, {'connected_gene': 'POLA2', 'score': 16.6}, {'connected_gene': 'PCNX3', 'score': 14.13}, {'connected_gene': 'LOC105369352', 'score': 13.75}, {'connected_gene': 'SYVN1', 'score': 12.77}, {'connected_gene': 'ENSG00000245156', 'score': 12.68}, {'connected_gene': 'SART1', 'score': 11.5}, {'connected_gene': 'SSSCA1', 'score': 11.39}, {'connected_gene': 'EHBP1L1', 'score': 11.13}, {'connected_gene': 'ENSG00000255038', 'score': 11.07}, {'connected_gene': 'VPS51', 'score': 10.87}, {'connected_gene': 'KAT5', 'score': 10.76}, {'connected_gene': 'MRPL11', 'score': 10.66}, {'connected_gene': 'MUS81', 'score': 10.49}, {'connected_gene': 'FRMD8', 'score': 10.49}, {'connected_gene': 'ATG2A', 'score': 10.32}, {'connected_gene': 'MEN1', 'score': 10.1}, {'connected_gene': 'RELA', 'score': 9.95}, {'connected_gene': 'SF3B2', 'score': 9.72}, {'connected_gene': 'ENSG00000255320', 'score': 9.71}, {'connected_gene': 'LOC101927789', 'score': 9.07}, {'connected_gene': 'RNASEH2C', 'score': 7.44}, {'connected_gene': 'SNX32', 'score': 5.78}, {'connected_gene': 'LOC728975', 'score': 4.35}, {'connected_gene': 'FOSL1', 'score': 1.59}, {'connected_gene': 'ENSG00000279093', 'score': 0.44}, {'connected_gene': 'GC11P065565', 'score': 0.44}, {'connected_gene': 'GC11P065562', 'score': 0.44}, {'connected_gene': 'GC11P065566', 'score': 0.44}, {'connected_gene': 'GC11M065547', 'score': 0.37}]
chr11 GH11I065945 65945172 65946419 0.77 [{'connected_gene': 'TSGA10IP', 'score': 550.77}, {'connected_gene': 'LOC105369350', 'score': 550.77}, {'connected_gene': 'DRAP1', 'score': 12.6}, {'connected_gene': 'C11orf68', 'score': 12.6}, {'connected_gene': 'FOSL1', 'score': 12.53}, {'connected_gene': 'EIF1AD', 'score': 11.4}, {'connected_gene': 'BANF1', 'score': 11.4}, {'connected_gene': 'CST6', 'score': 11.38}, {'connected_gene': 'CTSW', 'score': 11.37}, {'connected_gene': 'EFEMP2', 'score': 11.36}, {'connected_gene': 'CFL1', 'score': 11.34}, {'connected_gene': 'MUS81', 'score': 11.33}, {'connected_gene': 'CCDC85B', 'score': 11.18}, {'connected_gene': 'FIBP', 'score': 11.18}, {'connected_gene': 'CATSPER1', 'score': 10.78}, {'connected_gene': 'OVOL1-AS1', 'score': 10.13}, {'connected_gene': 'OVOL1', 'score': 10.12}, {'connected_gene': 'AP5B1', 'score': 10.12}, {'connected_gene': 'SART1', 'score': 0.37}]
chr11 GH11I065906 65906597 65907388 0.76 [{'connected_gene': 'SNX32', 'score': 9.59}, {'connected_gene': 'GC11P065910', 'score': 0.77}, {'connected_gene': 'FOSL1', 'score': 0.44}]
chr11 GH11I065910 65910046 65921408 2.63 [{'connected_gene': 'DRAP1', 'score': 555.34}, {'connected_gene': 'C11orf68', 'score': 553.0}, {'connected_gene': 'RBM14', 'score': 55.65}, {'connected_gene': 'LOC105369352', 'score': 49.09}, {'connected_gene': 'ZFPL1', 'score': 46.26}, {'connected_gene': 'ENSG00000254461', 'score': 44.43}, {'connected_gene': 'MUS81', 'score': 43.91}, {'connected_gene': 'ENSG00000258297', 'score': 43.65}, {'connected_gene': 'EIF1AD', 'score': 40.3}, {'connected_gene': 'PCNX3', 'score': 37.29}, {'connected_gene': 'RBM4', 'score': 36.59}, {'connected_gene': 'KAT5', 'score': 35.98}, {'connected_gene': 'POLA2', 'score': 34.75}, {'connected_gene': 'SF3B2', 'score': 30.26}, {'connected_gene': 'DPF2', 'score': 25.4}, {'connected_gene': 'SART1', 'score': 25.04}, {'connected_gene': 'ENSG00000255320', 'score': 24.78}, {'connected_gene': 'SCYL1', 'score': 23.06}, {'connected_gene': 'RNASEH2C', 'score': 21.42}, {'connected_gene': 'ENSG00000245156', 'score': 21.01}, {'connected_gene': 'MRPL11', 'score': 19.16}, {'connected_gene': 'RAB1B', 'score': 17.29}, {'connected_gene': 'SSSCA1', 'score': 14.18}, {'connected_gene': 'RELA', 'score': 13.52}, {'connected_gene': 'FOSL1', 'score': 12.8}, {'connected_gene': 'BRMS1', 'score': 12.55}, {'connected_gene': 'NAALADL1', 'score': 11.93}, {'connected_gene': 'CTSF', 'score': 11.78}, {'connected_gene': 'BBS1', 'score': 11.39}, {'connected_gene': 'ZNHIT2', 'score': 11.22}, {'connected_gene': 'ATG2A', 'score': 11.08}, {'connected_gene': 'ENSG00000255038', 'score': 10.63}, {'connected_gene': 'TSGA10IP', 'score': 10.33}, {'connected_gene': 'FRMD8', 'score': 10.02}, {'connected_gene': 'RCE1', 'score': 10.0}, {'connected_gene': 'RBM4B', 'score': 9.86}, {'connected_gene': 'SSSCA1-AS1', 'score': 9.81}, {'connected_gene': 'SNX32', 'score': 9.3}, {'connected_gene': 'CST6', 'score': 6.93}, {'connected_gene': 'CTSW', 'score': 5.7}, {'connected_gene': 'RIN1', 'score': 5.33}, {'connected_gene': 'FIBP', 'score': 5.23}, {'connected_gene': 'TMEM151A', 'score': 4.85}, {'connected_gene': 'CFL1', 'score': 3.71}, {'connected_gene': 'YIF1A', 'score': 3.31}, {'connected_gene': 'CCDC85B', 'score': 2.54}, {'connected_gene': 'KLC2', 'score': 1.69}, {'connected_gene': 'BANF1', 'score': 1.44}, {'connected_gene': 'GC11P065910', 'score': 0.77}]
chr11 GH11I065909 65909201 65909600 0.94 [{'connected_gene': 'GC11P065910', 'score': 550.77}, {'connected_gene': 'FOSL1', 'score': 0.44}]

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