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
ENST00000269919 [[18451396, 18451525], [18453668, 18453721], [18466704, 18466821], [18468192, 18468425], [18474200, 18480760]] [[18451491, 18451525], [18453668, 18453721], [18466704, 18466821], [18468192, 18468425], [18474200, 18474393]]
ENST00000604499 [[18451407, 18451525], [18453668, 18453721], [18466704, 18466821], [18468192, 18468425], [18474240, 18474488]] [[18451491, 18451525], [18453668, 18453721], [18466704, 18466821], [18468192, 18468425], [18474240, 18474319]]
ENST00000595066 [[18451408, 18451525], [18453668, 18453721], [18466704, 18466821], [18468192, 18468667]] [[18451491, 18451525], [18453668, 18453721], [18466704, 18466821], [18468192, 18468429]]
ENST00000252813 [[18451418, 18451525], [18466704, 18466821], [18468192, 18468425], [18474200, 18475152]] [[18468219, 18468425], [18474200, 18474393]]
ENST00000596962 [[18451420, 18451525], [18453668, 18453721], [18459757, 18459878], [18466704, 18466821], [18468192, 18468425], [18474200, 18474808]] [[18451491, 18451525], [18453668, 18453721], [18459757, 18459878], [18466704, 18466766]]
ENST00000600283 [[18451423, 18451525], [18453668, 18453721], [18459757, 18459878], [18466704, 18466821], [18468192, 18468425], [18474240, 18475028]] [[18451491, 18451525], [18453668, 18453721], [18459757, 18459878], [18466704, 18466766]]
ENST00000597431 [[18451448, 18451525], [18453668, 18453721], [18466704, 18466821], [18474200, 18474498]] [[18451491, 18451525], [18453668, 18453721], [18466704, 18466821], [18474200, 18474332]]
ENST00000597663 [[18468287, 18468425], [18480515, 18480740]] [[18468287, 18468425], [18480515, 18480708]]
ENST00000595552 [[18468315, 18468425], [18468815, 18468880], [18480515, 18480758]] [[18468315, 18468425], [18468815, 18468880], [18480515, 18480604]]
NM_001329477 [[18451396, 18451525], [18466704, 18466821], [18468192, 18468425], [18474200, 18480762]] [[18468219, 18468425], [18474200, 18474393]]
NM_001329476 [[18451396, 18451525], [18453668, 18453721], [18466704, 18466821], [18480515, 18480762]] [[18451491, 18451525], [18453668, 18453721], [18466704, 18466821], [18480515, 18480542]]
NM_001329471 [[18451396, 18451525], [18453668, 18453721], [18466704, 18466821], [18468192, 18468425], [18480515, 18480762]] [[18451491, 18451525], [18453668, 18453721], [18466704, 18466821], [18468192, 18468425], [18480515, 18480708]]
NM_001308366 [[18451396, 18451525], [18453668, 18453721], [18466704, 18466821], [18468192, 18468425], [18474240, 18480762]] [[18451491, 18451525], [18453668, 18453721], [18466704, 18466821], [18468192, 18468425], [18474240, 18474319]]
NR_138029 [[18451396, 18451525], [18453668, 18453721], [18459757, 18459878], [18466704, 18466821], [18468192, 18468425], [18474240, 18480762]] None
NM_001329478 [[18451396, 18451525], [18453668, 18453721], [18459757, 18459878], [18466704, 18466821], [18468192, 18468425], [18474200, 18480762]] [[18468219, 18468425], [18474200, 18474393]]
NM_001300927 [[18451396, 18451525], [18453668, 18453721], [18466704, 18466821], [18474200, 18480763]] [[18451491, 18451525], [18453668, 18453721], [18466704, 18466821], [18474200, 18474332]]
NM_017712 [[18451396, 18451525], [18453668, 18453721], [18466704, 18466821], [18468192, 18468425], [18474200, 18480763]] [[18451491, 18451525], [18453668, 18453721], [18466704, 18466821], [18468192, 18468425], [18474200, 18474393]]
Promoter
Chrom Start End Description
chr19 18451391 18451427 CAGE_peak_1_at_PGPEP1_5end
chr19 18451439 18451456 CAGE_peak_2_at_PGPEP1_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr19 GH19I018357 18357271 18358062 0.92 [{'connected_gene': 'GDF15', 'score': 0.37}, {'connected_gene': 'PGPEP1', 'score': 0.37}]
chr19 GH19I018368 18368031 18370247 1.08 [{'connected_gene': 'GDF15', 'score': 8.77}, {'connected_gene': 'KCNN1', 'score': 4.86}, {'connected_gene': 'PGPEP1', 'score': 0.31}]
chr19 GH19I018372 18372122 18390078 2.91 [{'connected_gene': 'GDF15', 'score': 562.27}, {'connected_gene': 'NR2C2AP', 'score': 82.56}, {'connected_gene': 'ENSG00000268030', 'score': 76.81}, {'connected_gene': 'UPF1', 'score': 39.45}, {'connected_gene': 'ENSG00000268938', 'score': 34.8}, {'connected_gene': 'MEF2B', 'score': 33.09}, {'connected_gene': 'COLGALT1', 'score': 30.71}, {'connected_gene': 'SUGP2', 'score': 28.19}, {'connected_gene': 'MVB12A', 'score': 24.22}, {'connected_gene': 'IQCN', 'score': 23.33}, {'connected_gene': 'ENSG00000269191', 'score': 20.26}, {'connected_gene': 'TMEM161A', 'score': 18.98}, {'connected_gene': 'KXD1', 'score': 18.9}, {'connected_gene': 'IFI30', 'score': 17.63}, {'connected_gene': 'PGLS', 'score': 11.89}, {'connected_gene': 'DDX49', 'score': 10.69}, {'connected_gene': 'MAU2', 'score': 10.26}, {'connected_gene': 'RFXANK', 'score': 9.99}, {'connected_gene': 'ENSG00000269481', 'score': 9.96}, {'connected_gene': 'PGPEP1', 'score': 6.93}, {'connected_gene': 'SSBP4', 'score': 5.2}, {'connected_gene': 'KCNN1', 'score': 5.05}, {'connected_gene': 'LRRC25', 'score': 3.32}, {'connected_gene': 'ARRDC2', 'score': 2.44}, {'connected_gene': 'ELL', 'score': 1.93}, {'connected_gene': 'JUND', 'score': 1.44}, {'connected_gene': 'PDE4C', 'score': 1.39}, {'connected_gene': 'MIR3189', 'score': 0.44}]
chr19 GH19I018512 18512572 18523049 2.83 [{'connected_gene': 'ELL', 'score': 569.68}, {'connected_gene': 'SSBP4', 'score': 18.89}, {'connected_gene': 'FKBP8', 'score': 14.22}, {'connected_gene': 'LRRC25', 'score': 6.64}, {'connected_gene': 'PGPEP1', 'score': 5.96}, {'connected_gene': 'IL12RB1', 'score': 5.73}, {'connected_gene': 'JUND', 'score': 5.68}, {'connected_gene': 'KXD1', 'score': 4.75}, {'connected_gene': 'UPF1', 'score': 2.54}, {'connected_gene': 'IFI30', 'score': 1.78}, {'connected_gene': 'UBA52', 'score': 1.3}, {'connected_gene': 'KLHL26', 'score': 1.28}, {'connected_gene': 'GC19M018475', 'score': 0.26}]
chr19 GH19I017552 17552634 17557081 2.36 [{'connected_gene': 'COLGALT1', 'score': 575.84}, {'connected_gene': 'ENSG00000269578', 'score': 42.85}, {'connected_gene': 'ENSG00000267904', 'score': 33.48}, {'connected_gene': 'ENSG00000268087', 'score': 33.44}, {'connected_gene': 'MVB12A', 'score': 31.4}, {'connected_gene': 'ENSG00000268938', 'score': 26.89}, {'connected_gene': 'ENSG00000268743', 'score': 26.8}, {'connected_gene': 'GTPBP3', 'score': 22.56}, {'connected_gene': 'IQCN', 'score': 20.92}, {'connected_gene': 'ENSG00000269191', 'score': 15.07}, {'connected_gene': 'PGLS', 'score': 14.12}, {'connected_gene': 'FAM129C', 'score': 12.68}, {'connected_gene': 'HAUS8', 'score': 12.46}, {'connected_gene': 'BST2', 'score': 11.19}, {'connected_gene': 'PLVAP', 'score': 11.1}, {'connected_gene': 'RPL18A', 'score': 10.53}, {'connected_gene': 'ELL', 'score': 10.26}, {'connected_gene': 'PGPEP1', 'score': 5.55}, {'connected_gene': 'SLC27A1', 'score': 4.5}, {'connected_gene': 'MAP1S', 'score': 1.97}, {'connected_gene': 'ARRDC2', 'score': 1.59}, {'connected_gene': 'MYO9B', 'score': 1.45}, {'connected_gene': 'GC19M017549', 'score': 0.44}]
chr19 GH19I018346 18346024 18346880 0.56 [{'connected_gene': 'PGPEP1', 'score': 42.9}, {'connected_gene': 'GDF15', 'score': 0.31}]
chr19 GH19I018344 18343822 18344979 0.2 [{'connected_gene': 'PGPEP1', 'score': 42.0}, {'connected_gene': 'GDF15', 'score': 0.29}]
chr19 GH19I018349 18349651 18349800 0.71 [{'connected_gene': 'PGPEP1', 'score': 0.44}, {'connected_gene': 'GDF15', 'score': 0.31}]
chr19 GH19I017576 17576437 17577501 0.76 [{'connected_gene': 'PGPEP1', 'score': 5.68}, {'connected_gene': 'GC19M017590', 'score': 0.39}, {'connected_gene': 'COLGALT1', 'score': 0.34}]
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 GH19I018337 18337695 18342799 2.24 [{'connected_gene': 'PGPEP1', 'score': 593.37}, {'connected_gene': 'RN7SL513P', 'score': 0.44}]
chr19 GH19I018019 18019775 18025420 1.79 [{'connected_gene': 'LOC440514', 'score': 550.77}, {'connected_gene': 'ARRDC2', 'score': 19.41}, {'connected_gene': 'IFI30', 'score': 19.24}, {'connected_gene': 'ENSG00000268030', 'score': 12.34}, {'connected_gene': 'GTPBP3', 'score': 11.35}, {'connected_gene': 'COMP', 'score': 6.12}, {'connected_gene': 'UBA52', 'score': 4.76}, {'connected_gene': 'LRRC25', 'score': 4.62}, {'connected_gene': 'JUND', 'score': 2.54}, {'connected_gene': 'FCHO1', 'score': 2.28}, {'connected_gene': 'MAP1S', 'score': 2.22}, {'connected_gene': 'ELL', 'score': 1.64}, {'connected_gene': 'PDE4C', 'score': 1.46}, {'connected_gene': 'IL12RB1', 'score': 1.45}, {'connected_gene': 'MAST3', 'score': 1.38}, {'connected_gene': 'KCNN1', 'score': 1.26}, {'connected_gene': 'FAM129C', 'score': 1.21}, {'connected_gene': 'PGPEP1', 'score': 1.2}, {'connected_gene': 'LOC646666', 'score': 0.37}]
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 GH19I018458 18458949 18461825 1.16 [{'connected_gene': 'SSBP4', 'score': 18.65}, {'connected_gene': 'SUGP2', 'score': 10.49}, {'connected_gene': 'NR2C2AP', 'score': 10.45}, {'connected_gene': 'ENSG00000268030', 'score': 10.09}, {'connected_gene': 'MAU2', 'score': 10.05}, {'connected_gene': 'SUGP1', 'score': 9.71}, {'connected_gene': 'UPF1', 'score': 9.68}, {'connected_gene': 'ELL', 'score': 9.26}, {'connected_gene': 'PGPEP1', 'score': 5.02}, {'connected_gene': 'ENSG00000280121', 'score': 0.39}, {'connected_gene': 'GC19M018475', 'score': 0.37}]
chr19 GH19I018289 18289167 18295305 1.86 [{'connected_gene': 'NR2C2AP', 'score': 74.06}, {'connected_gene': 'ENSG00000268030', 'score': 70.16}, {'connected_gene': 'IQCN', 'score': 52.86}, {'connected_gene': 'SUGP2', 'score': 50.82}, {'connected_gene': 'UPF1', 'score': 46.14}, {'connected_gene': 'COLGALT1', 'score': 38.67}, {'connected_gene': 'ENSG00000268938', 'score': 36.46}, {'connected_gene': 'MVB12A', 'score': 29.85}, {'connected_gene': 'MEF2B', 'score': 28.66}, {'connected_gene': 'ENSG00000269191', 'score': 24.27}, {'connected_gene': 'GTPBP3', 'score': 22.9}, {'connected_gene': 'ELL', 'score': 21.85}, {'connected_gene': 'LOC100507551', 'score': 19.66}, {'connected_gene': 'RPL18A', 'score': 19.4}, {'connected_gene': 'JUND', 'score': 12.78}, {'connected_gene': 'IFI30', 'score': 12.73}, {'connected_gene': 'UBA52', 'score': 11.73}, {'connected_gene': 'TMEM161A', 'score': 11.06}, {'connected_gene': 'ENSG00000269815', 'score': 10.91}, {'connected_gene': 'DDX49', 'score': 10.69}, {'connected_gene': 'ENSG00000269481', 'score': 9.97}, {'connected_gene': 'PGLS', 'score': 9.76}, {'connected_gene': 'IL12RB1', 'score': 7.16}, {'connected_gene': 'ARRDC2', 'score': 5.99}, {'connected_gene': 'JAK3', 'score': 4.94}, {'connected_gene': 'RAB3A', 'score': 4.8}, {'connected_gene': 'LRRC25', 'score': 4.05}, {'connected_gene': 'KCNN1', 'score': 2.58}, {'connected_gene': 'KLHL26', 'score': 2.35}, {'connected_gene': 'PGPEP1', 'score': 2.12}, {'connected_gene': 'REX1BD', 'score': 1.39}, {'connected_gene': 'SSBP4', 'score': 1.31}, {'connected_gene': 'CRTC1', 'score': 1.28}, {'connected_gene': 'MAST3', 'score': 1.21}, {'connected_gene': 'GC19P020225', 'score': 0.77}, {'connected_gene': 'RPL39P38', 'score': 0.44}]
chr19 GH19I018361 18361443 18368002 1.52 [{'connected_gene': 'NR2C2AP', 'score': 35.9}, {'connected_gene': 'ENSG00000268030', 'score': 31.1}, {'connected_gene': 'SUGP2', 'score': 13.41}, {'connected_gene': 'COLGALT1', 'score': 12.35}, {'connected_gene': 'TMEM161A', 'score': 10.71}, {'connected_gene': 'UPF1', 'score': 10.41}, {'connected_gene': 'MAU2', 'score': 10.26}, {'connected_gene': 'PGPEP1', 'score': 8.7}, {'connected_gene': 'GDF15', 'score': 0.39}]
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 GH19I018391 18390111 18390320 0.77 [{'connected_gene': 'GC19P020281', 'score': 550.77}, {'connected_gene': 'GDF15', 'score': 6.71}, {'connected_gene': 'PGPEP1', 'score': 4.65}, {'connected_gene': 'MIR3189', 'score': 0.77}]
chr19 GH19I017579 17579292 17580701 1.08 [{'connected_gene': 'ENSG00000267904', 'score': 20.23}, {'connected_gene': 'ENSG00000269578', 'score': 19.24}, {'connected_gene': 'ENSG00000268030', 'score': 18.9}, {'connected_gene': 'COLGALT1', 'score': 15.53}, {'connected_gene': 'ENSG00000268938', 'score': 13.85}, {'connected_gene': 'ENSG00000268743', 'score': 12.96}, {'connected_gene': 'ENSG00000268087', 'score': 12.73}, {'connected_gene': 'MVB12A', 'score': 12.67}, {'connected_gene': 'ENSG00000269191', 'score': 12.52}, {'connected_gene': 'GTPBP3', 'score': 11.02}, {'connected_gene': 'RPL18A', 'score': 10.64}, {'connected_gene': 'IQCN', 'score': 10.23}, {'connected_gene': 'PGPEP1', 'score': 5.27}, {'connected_gene': 'GC19M017590', 'score': 0.39}]
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 GH19I018298 18298353 18299997 0.31 [{'connected_gene': 'GC19P020234', 'score': 550.77}, {'connected_gene': 'PGPEP1', 'score': 10.45}, {'connected_gene': 'PIR51292', 'score': 0.39}]

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