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
ENST00000524482 [[64889654, 64889812], [64891973, 64892124], [64892959, 64893084], [64893197, 64894828]] None
ENST00000528529 [[64889762, 64889812], [64892959, 64893084], [64893197, 64893774]] None
ENST00000534078 [[64889782, 64889896], [64892959, 64893084], [64893197, 64893476]] [[64889818, 64889896], [64892959, 64893052]]
ENST00000526319 [[64889790, 64889896], [64891973, 64892124], [64892959, 64893084], [64893197, 64893414], [64893528, 64894835]] [[64889818, 64889896], [64891973, 64892124], [64892959, 64893084], [64893197, 64893344]]
ENST00000526171 [[64889792, 64889896], [64891973, 64892124], [64892959, 64893205]] [[64889818, 64889896], [64891973, 64892124], [64892959, 64893153]]
ENST00000279242 [[64889799, 64889896], [64891973, 64892124], [64892959, 64893084], [64893197, 64894843]] [[64889818, 64889896], [64891973, 64892124], [64892959, 64893084], [64893197, 64893344]]
ENST00000531705 [[64889807, 64889896], [64891973, 64892124], [64894473, 64894722]] [[64889818, 64889896], [64891973, 64892124], [64894473, 64894544]]
ENST00000533943 [[64889826, 64889936], [64892959, 64893084], [64893197, 64893650]] [[64889826, 64889936], [64892959, 64893084], [64893197, 64893344]]
ENST00000532671 [[64892196, 64893084], [64893197, 64894835]] None
NR_037567 [[64889654, 64889812], [64891973, 64892124], [64892959, 64893084], [64893197, 64894841]] None
NR_037568 [[64889715, 64889896], [64892959, 64893084], [64893197, 64894841]] None
NM_004927 [[64889715, 64889896], [64891973, 64892124], [64892959, 64893084], [64893197, 64894841]] [[64889818, 64889896], [64891973, 64892124], [64892959, 64893084], [64893197, 64893344]]
Promoter
Chrom Start End Description
chr11 64889706 64889727 CAGE_peak_2_at_MRPL49_5end
chr11 64889773 64889820 CAGE_peak_1_at_MRPL49_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr11 GH11I064564 64564717 64568080 1.2 [{'connected_gene': 'ZFPL1', 'score': 23.69}, {'connected_gene': 'SF1', 'score': 17.16}, {'connected_gene': 'TRMT112', 'score': 15.17}, {'connected_gene': 'VPS51', 'score': 13.39}, {'connected_gene': 'PLCB3', 'score': 12.93}, {'connected_gene': 'ENSG00000257086', 'score': 12.28}, {'connected_gene': 'POLA2', 'score': 12.22}, {'connected_gene': 'NEAT1', 'score': 11.94}, {'connected_gene': 'SYVN1', 'score': 11.8}, {'connected_gene': 'FAU', 'score': 11.46}, {'connected_gene': 'SCYL1', 'score': 10.27}, {'connected_gene': 'MRPL49', 'score': 10.04}, {'connected_gene': 'ATG2A', 'score': 9.76}, {'connected_gene': 'MEN1', 'score': 4.42}, {'connected_gene': 'SLC22A11', 'score': 0.39}, {'connected_gene': 'SLC22A12', 'score': 0.34}]
chr11 GH11I065119 65119734 65123592 2.05 [{'connected_gene': 'MRPL49', 'score': 550.77}, {'connected_gene': 'FAU', 'score': 550.77}, {'connected_gene': 'LOC728975', 'score': 5.82}, {'connected_gene': 'SLC22A20P', 'score': 4.55}, {'connected_gene': 'BANF1', 'score': 4.37}, {'connected_gene': 'ENSG00000278952', 'score': 0.77}, {'connected_gene': 'SYVN1', 'score': 0.39}]
chr11 GH11I065095 65095576 65097809 2.13 [{'connected_gene': 'VPS51', 'score': 550.44}, {'connected_gene': 'ZFPL1', 'score': 44.5}, {'connected_gene': 'FAU', 'score': 31.08}, {'connected_gene': 'SF1', 'score': 27.83}, {'connected_gene': 'EIF1AD', 'score': 27.28}, {'connected_gene': 'PCNX3', 'score': 25.11}, {'connected_gene': 'SART1', 'score': 23.06}, {'connected_gene': 'TRMT112', 'score': 22.11}, {'connected_gene': 'POLA2', 'score': 21.04}, {'connected_gene': 'SF3B2', 'score': 19.88}, {'connected_gene': 'FRMD8', 'score': 19.72}, {'connected_gene': 'PLCB3', 'score': 19.44}, {'connected_gene': 'LTBP3', 'score': 18.44}, {'connected_gene': 'RNASEH2C', 'score': 15.69}, {'connected_gene': 'SYVN1', 'score': 13.0}, {'connected_gene': 'ZNHIT2', 'score': 11.78}, {'connected_gene': 'MRPL49', 'score': 11.75}, {'connected_gene': 'ENSG00000255038', 'score': 11.06}, {'connected_gene': 'KAT5', 'score': 10.74}, {'connected_gene': 'MUS81', 'score': 10.46}, {'connected_gene': 'ATG2A', 'score': 10.39}, {'connected_gene': 'MEN1', 'score': 10.14}, {'connected_gene': 'RELA', 'score': 9.97}, {'connected_gene': 'EFEMP2', 'score': 9.83}, {'connected_gene': 'EEF1A1P18', 'score': 7.68}, {'connected_gene': 'TMEM262', 'score': 0.44}, {'connected_gene': 'ENSG00000254501', 'score': 0.37}]
chr11 GH11I065149 65149881 65153259 1.15 [{'connected_gene': 'SPDYC', 'score': 22.34}, {'connected_gene': 'MRPL49', 'score': 12.51}, {'connected_gene': 'PGAM1P8', 'score': 12.42}, {'connected_gene': 'CAPN1', 'score': 12.39}, {'connected_gene': 'LOC728975', 'score': 12.37}, {'connected_gene': 'FAU', 'score': 11.8}, {'connected_gene': 'ZNHIT2', 'score': 11.78}, {'connected_gene': 'POLA2', 'score': 5.88}, {'connected_gene': 'SF3B2', 'score': 4.2}, {'connected_gene': 'RNU2-23P', 'score': 0.77}, {'connected_gene': 'PDCL2P2', 'score': 0.44}, {'connected_gene': 'GC11P065151', 'score': 0.44}]
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 GH11I065470 65470088 65510079 2.89 [{'connected_gene': 'LOC105369346', 'score': 550.77}, {'connected_gene': 'SF1', 'score': 189.69}, {'connected_gene': 'PCNX3', 'score': 160.7}, {'connected_gene': 'POLA2', 'score': 158.56}, {'connected_gene': 'ZFPL1', 'score': 157.11}, {'connected_gene': 'EIF1AD', 'score': 154.22}, {'connected_gene': 'SART1', 'score': 127.69}, {'connected_gene': 'MUS81', 'score': 123.55}, {'connected_gene': 'LOC105369352', 'score': 116.17}, {'connected_gene': 'KAT5', 'score': 100.18}, {'connected_gene': 'ENSG00000255320', 'score': 96.85}, {'connected_gene': 'RELA', 'score': 96.16}, {'connected_gene': 'SF3B2', 'score': 94.84}, {'connected_gene': 'FRMD8', 'score': 88.89}, {'connected_gene': 'ENSG00000245156', 'score': 84.38}, {'connected_gene': 'ENSG00000255038', 'score': 77.14}, {'connected_gene': 'ENSG00000254461', 'score': 73.84}, {'connected_gene': 'SCYL1', 'score': 66.44}, {'connected_gene': 'MRPL11', 'score': 65.32}, {'connected_gene': 'NEAT1', 'score': 64.84}, {'connected_gene': 'SYVN1', 'score': 59.82}, {'connected_gene': 'ATG2A', 'score': 54.93}, {'connected_gene': 'NAALADL1', 'score': 54.58}, {'connected_gene': 'FAU', 'score': 50.66}, {'connected_gene': 'MEN1', 'score': 46.37}, {'connected_gene': 'RAB1B', 'score': 35.68}, {'connected_gene': 'ZNHIT2', 'score': 33.24}, {'connected_gene': 'VPS51', 'score': 31.76}, {'connected_gene': 'SSSCA1-AS1', 'score': 31.65}, {'connected_gene': 'EHBP1L1', 'score': 31.53}, {'connected_gene': 'ENSG00000269038', 'score': 30.32}, {'connected_gene': 'SSSCA1', 'score': 29.87}, {'connected_gene': 'LOC101928069', 'score': 29.44}, {'connected_gene': 'LOC101927789', 'score': 25.95}, {'connected_gene': 'CD248', 'score': 20.19}, {'connected_gene': 'BRMS1', 'score': 18.17}, {'connected_gene': 'CDC42EP2', 'score': 17.45}, {'connected_gene': 'SLC25A45', 'score': 14.01}, {'connected_gene': 'DPF2', 'score': 13.74}, {'connected_gene': 'MIR612', 'score': 12.86}, {'connected_gene': 'ENSG00000255478', 'score': 12.09}, {'connected_gene': 'KCNK7', 'score': 11.86}, {'connected_gene': 'RNASEH2C', 'score': 11.28}, {'connected_gene': 'SAC3D1', 'score': 10.98}, {'connected_gene': 'SNX32', 'score': 10.73}, {'connected_gene': 'MALAT1', 'score': 10.32}, {'connected_gene': 'MRPL49', 'score': 10.06}, {'connected_gene': 'AP5B1', 'score': 6.63}, {'connected_gene': 'LOC728975', 'score': 5.96}, {'connected_gene': 'YIF1A', 'score': 5.76}, {'connected_gene': 'KRT8P26', 'score': 5.19}, {'connected_gene': 'TSGA10IP', 'score': 4.06}, {'connected_gene': 'MAP3K11', 'score': 3.96}, {'connected_gene': 'BATF2', 'score': 3.6}, {'connected_gene': 'EFEMP2', 'score': 2.32}, {'connected_gene': 'C11orf68', 'score': 1.81}, {'connected_gene': 'LTBP3', 'score': 1.66}, {'connected_gene': 'DRAP1', 'score': 1.46}, {'connected_gene': 'SIPA1', 'score': 1.37}, {'connected_gene': 'GC11M065481', 'score': 0.44}, {'connected_gene': 'GC11P065503', 'score': 0.44}, {'connected_gene': 'ENSG00000270117', 'score': 0.44}, {'connected_gene': 'GC11P065527', 'score': 0.39}, {'connected_gene': 'ENSG00000278217', 'score': 0.39}, {'connected_gene': 'ENSG00000274072', 'score': 0.37}]
chr11 GH11I064163 64163419 64167428 2.04 [{'connected_gene': 'LOC105369339', 'score': 550.77}, {'connected_gene': 'MACROD1', 'score': 550.77}, {'connected_gene': 'SF1', 'score': 32.64}, {'connected_gene': 'TRPT1', 'score': 32.25}, {'connected_gene': 'ZFPL1', 'score': 26.06}, {'connected_gene': 'PLCB3', 'score': 22.87}, {'connected_gene': 'TRMT112', 'score': 19.01}, {'connected_gene': 'ATG2A', 'score': 17.73}, {'connected_gene': 'ENSG00000257086', 'score': 14.2}, {'connected_gene': 'VPS51', 'score': 13.39}, {'connected_gene': 'SYVN1', 'score': 11.79}, {'connected_gene': 'FAU', 'score': 11.46}, {'connected_gene': 'ENSG00000256481', 'score': 10.55}, {'connected_gene': 'ENSG00000256341', 'score': 10.32}, {'connected_gene': 'MRPL49', 'score': 10.04}, {'connected_gene': 'NAA40', 'score': 9.99}, {'connected_gene': 'CCDC88B', 'score': 8.51}, {'connected_gene': 'ENSG00000256116', 'score': 5.8}, {'connected_gene': 'TM7SF2', 'score': 5.01}, {'connected_gene': 'PIR54353', 'score': 0.39}, {'connected_gene': 'GC11M064153', '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 GH11I064331 64331023 64332762 1.46 [{'connected_gene': 'GC11P064331', 'score': 550.77}, {'connected_gene': 'GC11P064330', 'score': 550.77}, {'connected_gene': 'POLA2', 'score': 48.55}, {'connected_gene': 'SF1', 'score': 43.85}, {'connected_gene': 'PLCB3', 'score': 39.14}, {'connected_gene': 'ZFPL1', 'score': 38.26}, {'connected_gene': 'ENSG00000257086', 'score': 23.8}, {'connected_gene': 'FAU', 'score': 21.33}, {'connected_gene': 'ATG2A', 'score': 17.74}, {'connected_gene': 'ZNHIT2', 'score': 15.94}, {'connected_gene': 'NAALADL1', 'score': 15.12}, {'connected_gene': 'IMMP1LP1', 'score': 13.73}, {'connected_gene': 'VPS51', 'score': 13.39}, {'connected_gene': 'ENSG00000269038', 'score': 12.65}, {'connected_gene': 'ATL3', 'score': 12.19}, {'connected_gene': 'SYVN1', 'score': 11.79}, {'connected_gene': 'PPP1R14B', 'score': 11.36}, {'connected_gene': 'SAC3D1', 'score': 10.96}, {'connected_gene': 'MRPL49', 'score': 10.04}, {'connected_gene': 'CCDC88B', 'score': 5.52}, {'connected_gene': 'LOC102723878', 'score': 0.44}]
chr11 GH11I064405 64405826 64408029 0.96 [{'connected_gene': 'GC11P064406', 'score': 550.77}, {'connected_gene': 'POLA2', 'score': 33.85}, {'connected_gene': 'PLCB3', 'score': 29.31}, {'connected_gene': 'SF1', 'score': 28.36}, {'connected_gene': 'ZFPL1', 'score': 24.42}, {'connected_gene': 'FAU', 'score': 21.32}, {'connected_gene': 'FRMD8', 'score': 18.88}, {'connected_gene': 'NAALADL1', 'score': 15.13}, {'connected_gene': 'RPS6KA4', 'score': 13.61}, {'connected_gene': 'ENSG00000231680', 'score': 13.59}, {'connected_gene': 'VPS51', 'score': 13.39}, {'connected_gene': 'ATL3', 'score': 12.18}, {'connected_gene': 'SYVN1', 'score': 11.79}, {'connected_gene': 'ENSG00000257086', 'score': 11.47}, {'connected_gene': 'PPP1R14B', 'score': 11.29}, {'connected_gene': 'MRPL49', 'score': 10.04}, {'connected_gene': 'ATG2A', 'score': 9.74}, {'connected_gene': 'RTN3', 'score': 9.67}, {'connected_gene': 'MEN1', 'score': 4.35}, {'connected_gene': 'LOC105369341', 'score': 0.39}]

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