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
ENST00000593829 [[18417039, 18418365], [18420487, 18420671], [18423413, 18423512], [18426833, 18426875], [18433827, 18434084]] [[18418273, 18418365], [18420487, 18420671], [18423413, 18423512], [18426833, 18426875], [18433827, 18433830]]
ENST00000252816 [[18417716, 18418365], [18420487, 18420671], [18423413, 18423512], [18433827, 18433881]] [[18418273, 18418365], [18420487, 18420671], [18423413, 18423512], [18433827, 18433830]]
ENST00000600289 [[18417725, 18418365], [18420487, 18420671], [18420919, 18421024], [18423413, 18423512], [18426833, 18426875], [18433827, 18433870]] [[18420958, 18421024], [18423413, 18423512], [18426833, 18426875], [18433827, 18433830]]
ENST00000594828 [[18420100, 18420671], [18423413, 18423512], [18426833, 18426875], [18433827, 18433922]] [[18420100, 18420671], [18423413, 18423512], [18426833, 18426875], [18433827, 18433830]]
ENST00000597776 [[18420560, 18420671], [18423413, 18423512], [18426833, 18427069]] [[18420560, 18420671], [18423413, 18423512], [18426833, 18426950]]
ENST00000593564 [[18422978, 18423512], [18426833, 18426875], [18433827, 18433907]] None
NM_012321 [[18417039, 18418365], [18420487, 18420671], [18423413, 18423512], [18426833, 18426875], [18433827, 18434001]] [[18418273, 18418365], [18420487, 18420671], [18423413, 18423512], [18426833, 18426875], [18433827, 18433830]]
NM_001252129 [[18417039, 18418365], [18420487, 18420671], [18423413, 18423512], [18433827, 18434001]] [[18418273, 18418365], [18420487, 18420671], [18423413, 18423512], [18433827, 18433830]]
Promoter
Chrom Start End Description
chr19 18426858 18426889 CAGE_peak_4_at_LSM4_5end
chr19 18426906 18426915 CAGE_peak_7_at_LSM4_5end
chr19 18433859 18433870 CAGE_peak_3_at_LSM4_5end
chr19 18433875 18433909 CAGE_peak_1_at_LSM4_5end
chr19 18433910 18433944 CAGE_peak_2_at_LSM4_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr19 GH19I018215 18215067 18215412 0.49 [{'connected_gene': 'IQCN', 'score': 22.17}, {'connected_gene': 'PDE4C', 'score': 21.05}, {'connected_gene': 'MPV17L2', 'score': 12.73}, {'connected_gene': 'LSM4', 'score': 11.78}, {'connected_gene': 'LOC102725254', 'score': 0.39}, {'connected_gene': 'LOC729966', 'score': 0.26}]
chr19 GH19I018203 18202778 18209116 2.45 [{'connected_gene': 'RAB3A', 'score': 550.77}, {'connected_gene': 'LOC102725254', 'score': 550.77}, {'connected_gene': 'IQCN', 'score': 43.16}, {'connected_gene': 'UPF1', 'score': 38.42}, {'connected_gene': 'ENSG00000268030', 'score': 33.22}, {'connected_gene': 'PDE4C', 'score': 25.88}, {'connected_gene': 'ENSG00000268938', 'score': 25.63}, {'connected_gene': 'NR2C2AP', 'score': 23.74}, {'connected_gene': 'ENSG00000269191', 'score': 21.04}, {'connected_gene': 'COLGALT1', 'score': 19.81}, {'connected_gene': 'ELL', 'score': 19.48}, {'connected_gene': 'MVB12A', 'score': 13.5}, {'connected_gene': 'LSM4', 'score': 11.46}, {'connected_gene': 'MEF2B', 'score': 11.28}, {'connected_gene': 'PLVAP', 'score': 10.03}, {'connected_gene': 'KXD1', 'score': 10.01}, {'connected_gene': 'RFXANK', 'score': 9.99}, {'connected_gene': 'MPV17L2', 'score': 7.73}, {'connected_gene': 'IL12RB1', 'score': 5.3}, {'connected_gene': 'LOC729966', 'score': 0.25}]
chr19 GH19I018328 18328011 18329728 1.4 [{'connected_gene': 'PGPEP1', 'score': 16.05}, {'connected_gene': 'LSM4', 'score': 14.82}, {'connected_gene': 'LRRC25', 'score': 13.19}, {'connected_gene': 'MPV17L2', 'score': 11.19}, {'connected_gene': 'RN7SL513P', 'score': 0.77}]
chr19 GH19I018223 18223491 18226242 2.05 [{'connected_gene': 'PDE4C', 'score': 586.5}, {'connected_gene': 'IQCN', 'score': 22.06}, {'connected_gene': 'MPV17L2', 'score': 19.62}, {'connected_gene': 'PLVAP', 'score': 11.56}, {'connected_gene': 'LSM4', 'score': 11.31}, {'connected_gene': 'LOC102725254', 'score': 0.34}, {'connected_gene': 'LOC729966', 'score': 0.29}]
chr19 GH19I018220 18220733 18220780 0.56 [{'connected_gene': 'PDE4C', 'score': 12.93}, {'connected_gene': 'IQCN', 'score': 12.45}, {'connected_gene': 'MPV17L2', 'score': 12.09}, {'connected_gene': 'LSM4', 'score': 11.31}, {'connected_gene': 'LOC102725254', 'score': 0.37}, {'connected_gene': 'LOC729966', 'score': 0.29}]
chr19 GH19I018221 18220794 18221335 0.57 [{'connected_gene': 'PDE4C', 'score': 12.93}, {'connected_gene': 'IQCN', 'score': 12.45}, {'connected_gene': 'MPV17L2', 'score': 12.09}, {'connected_gene': 'LSM4', 'score': 11.31}, {'connected_gene': 'LOC102725254', 'score': 0.37}, {'connected_gene': 'LOC729966', 'score': 0.29}]
chr19 GH19I018195 18195764 18196329 0.46 [{'connected_gene': 'PDE4C', 'score': 11.97}, {'connected_gene': 'LSM4', 'score': 11.2}, {'connected_gene': 'IQCN', 'score': 9.72}, {'connected_gene': 'MPV17L2', 'score': 9.29}, {'connected_gene': 'RAB3A', 'score': 0.44}]
chr19 GH19I018185 18185591 18186036 0.2 [{'connected_gene': 'PDE4C', 'score': 16.92}, {'connected_gene': 'LSM4', 'score': 11.47}, {'connected_gene': 'IQCN', 'score': 5.88}, {'connected_gene': 'MPV17L2', 'score': 0.44}, {'connected_gene': 'IFI30', 'score': 0.39}]
chr19 GH19I018277 18277429 18283826 2.52 [{'connected_gene': 'JUND', 'score': 555.06}, {'connected_gene': 'MIR3188', 'score': 550.77}, {'connected_gene': 'PIR55689', 'score': 550.77}, {'connected_gene': 'GC19P020223', 'score': 550.77}, {'connected_gene': 'IQCN', 'score': 54.6}, {'connected_gene': 'UPF1', 'score': 48.68}, {'connected_gene': 'ENSG00000268030', 'score': 42.43}, {'connected_gene': 'ENSG00000268938', 'score': 39.18}, {'connected_gene': 'NR2C2AP', 'score': 37.02}, {'connected_gene': 'ENSG00000269191', 'score': 31.06}, {'connected_gene': 'COLGALT1', 'score': 29.43}, {'connected_gene': 'MVB12A', 'score': 23.33}, {'connected_gene': 'MEF2B', 'score': 21.91}, {'connected_gene': 'ELL', 'score': 19.49}, {'connected_gene': 'PDE4C', 'score': 17.21}, {'connected_gene': 'LSM4', 'score': 12.91}, {'connected_gene': 'TMEM161A', 'score': 11.93}, {'connected_gene': 'PGLS', 'score': 11.88}, {'connected_gene': 'MPV17L2', 'score': 11.53}, {'connected_gene': 'GTPBP3', 'score': 10.98}, {'connected_gene': 'RPL18A', 'score': 10.63}, {'connected_gene': 'KXD1', 'score': 10.6}, {'connected_gene': 'SLC27A1', 'score': 4.54}]
chr19 GH19I018315 18315296 18324706 2.57 [{'connected_gene': 'LSM4', 'score': 566.92}, {'connected_gene': 'UPF1', 'score': 27.0}, {'connected_gene': 'ELL', 'score': 22.2}, {'connected_gene': 'IQCN', 'score': 21.62}, {'connected_gene': 'ENSG00000268030', 'score': 18.27}, {'connected_gene': 'ENSG00000268938', 'score': 14.74}, {'connected_gene': 'COLGALT1', 'score': 14.6}, {'connected_gene': 'ENSG00000269191', 'score': 12.22}, {'connected_gene': 'PGPEP1', 'score': 10.28}, {'connected_gene': 'NR2C2AP', 'score': 10.08}, {'connected_gene': 'SUGP2', 'score': 9.94}, {'connected_gene': 'SSBP4', 'score': 7.55}, {'connected_gene': 'LRRC25', 'score': 6.96}, {'connected_gene': 'IFI30', 'score': 5.08}, {'connected_gene': 'JUND', 'score': 4.65}, {'connected_gene': 'ARRDC2', 'score': 2.3}, {'connected_gene': 'JAK3', 'score': 1.74}, {'connected_gene': 'IL12RB1', 'score': 1.67}, {'connected_gene': 'CCDC124', 'score': 1.55}, {'connected_gene': 'LOC105372300', 'score': 0.77}]
chr19 GH19I018343 18343359 18343735 0.43 [{'connected_gene': 'LSM4', 'score': 8.15}, {'connected_gene': 'PGPEP1', 'score': 0.77}, {'connected_gene': 'GDF15', 'score': 0.29}]
chr19 GH19I018414 18414110 18423279 2.85 [{'connected_gene': 'SSBP4', 'score': 571.64}, {'connected_gene': 'NR2C2AP', 'score': 49.04}, {'connected_gene': 'ENSG00000268030', 'score': 42.71}, {'connected_gene': 'UPF1', 'score': 38.14}, {'connected_gene': 'COLGALT1', 'score': 31.13}, {'connected_gene': 'MAU2', 'score': 30.39}, {'connected_gene': 'ENSG00000268938', 'score': 26.71}, {'connected_gene': 'IQCN', 'score': 23.81}, {'connected_gene': 'ENSG00000269191', 'score': 22.31}, {'connected_gene': 'TMEM161A', 'score': 11.93}, {'connected_gene': 'LRRC25', 'score': 10.72}, {'connected_gene': 'ELL', 'score': 10.71}, {'connected_gene': 'RPL18A', 'score': 10.61}, {'connected_gene': 'MEF2B', 'score': 10.28}, {'connected_gene': 'GATAD2A', 'score': 9.86}, {'connected_gene': 'IFI30', 'score': 8.54}, {'connected_gene': 'IL12RB1', 'score': 6.17}, {'connected_gene': 'PGPEP1', 'score': 4.69}, {'connected_gene': 'JUND', 'score': 3.58}, {'connected_gene': 'ARRDC2', 'score': 2.77}, {'connected_gene': 'ISYNA1', 'score': 2.33}, {'connected_gene': 'KLHL26', 'score': 2.26}, {'connected_gene': 'REX1BD', 'score': 2.08}, {'connected_gene': 'CRLF1', 'score': 1.82}, {'connected_gene': 'KXD1', 'score': 1.79}, {'connected_gene': 'KCNN1', 'score': 1.78}, {'connected_gene': 'LSM4', 'score': 1.58}, {'connected_gene': 'UBA52', 'score': 1.37}, {'connected_gene': 'CCDC124', 'score': 1.21}, {'connected_gene': 'PIR41821', 'score': 0.77}, {'connected_gene': 'PIR44614', 'score': 0.37}, {'connected_gene': 'GC19M018436', 'score': 0.37}]
chr19 GH19I018392 18392001 18399891 1.93 [{'connected_gene': 'LRRC25', 'score': 564.01}, {'connected_gene': 'IFI30', 'score': 20.87}, {'connected_gene': 'IQCN', 'score': 12.25}, {'connected_gene': 'LSM4', 'score': 11.63}, {'connected_gene': 'PGPEP1', 'score': 8.83}, {'connected_gene': 'GDF15', 'score': 6.96}, {'connected_gene': 'ELL', 'score': 5.95}, {'connected_gene': 'SSBP4', 'score': 5.55}, {'connected_gene': 'KCNN1', 'score': 5.25}, {'connected_gene': 'ARRDC2', 'score': 3.06}, {'connected_gene': 'IL12RB1', 'score': 2.11}, {'connected_gene': 'UBA52', 'score': 1.84}, {'connected_gene': 'UPF1', 'score': 1.4}, {'connected_gene': 'GC19P020281', 'score': 0.77}]
chr19 GH19I018332 18332044 18335684 0.57 [{'connected_gene': 'RN7SL513P', 'score': 550.77}, {'connected_gene': 'PGPEP1', 'score': 16.57}, {'connected_gene': 'LRRC25', 'score': 13.2}, {'connected_gene': 'MPV17L2', 'score': 11.19}, {'connected_gene': 'LSM4', 'score': 8.42}]
chr19 GH19I018300 18300390 18308620 1.84 [{'connected_gene': 'ENSG00000268030', 'score': 38.41}, {'connected_gene': 'UPF1', 'score': 37.84}, {'connected_gene': 'IQCN', 'score': 35.08}, {'connected_gene': 'ENSG00000268938', 'score': 26.94}, {'connected_gene': 'NR2C2AP', 'score': 23.89}, {'connected_gene': 'MEF2B', 'score': 18.54}, {'connected_gene': 'JUND', 'score': 18.24}, {'connected_gene': 'LSM4', 'score': 17.0}, {'connected_gene': 'COLGALT1', 'score': 15.47}, {'connected_gene': 'ENSG00000269191', 'score': 15.12}, {'connected_gene': 'MVB12A', 'score': 11.09}, {'connected_gene': 'IFI30', 'score': 10.88}, {'connected_gene': 'DDX49', 'score': 10.69}, {'connected_gene': 'ELL', 'score': 10.59}, {'connected_gene': 'PGPEP1', 'score': 10.33}, {'connected_gene': 'IL12RB1', 'score': 10.25}, {'connected_gene': 'GTPBP3', 'score': 10.01}, {'connected_gene': 'ENSG00000269481', 'score': 9.96}, {'connected_gene': 'PGLS', 'score': 9.76}, {'connected_gene': 'ARRDC2', 'score': 9.26}, {'connected_gene': 'SSBP4', 'score': 8.01}, {'connected_gene': 'JAK3', 'score': 4.27}, {'connected_gene': 'KLHL26', 'score': 3.4}, {'connected_gene': 'KCNN1', 'score': 1.58}, {'connected_gene': 'REX1BD', 'score': 1.12}, {'connected_gene': 'PIR51292', 'score': 0.44}, {'connected_gene': 'GC19P020234', 'score': 0.44}]
chr19 GH19I018309 18309547 18312904 0.83 [{'connected_gene': 'PIR51292', 'score': 550.77}, {'connected_gene': 'PGPEP1', 'score': 10.37}, {'connected_gene': 'LSM4', 'score': 8.93}, {'connected_gene': 'SSBP4', 'score': 7.78}, {'connected_gene': 'GC19P020234', 'score': 0.39}]
chr19 GH19I018313 18313139 18314108 0.31 [{'connected_gene': 'PIR51292', 'score': 550.77}, {'connected_gene': 'PGPEP1', 'score': 10.33}, {'connected_gene': 'LOC105372300', 'score': 0.77}, {'connected_gene': 'LSM4', 'score': 0.44}]
chr19 GH19I018314 18314163 18314996 0.46 [{'connected_gene': 'PIR51292', 'score': 550.77}, {'connected_gene': 'LOC105372300', 'score': 0.77}, {'connected_gene': 'LSM4', 'score': 0.44}]

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