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
ENST00000527031 [[17935588, 17936119], [17947535, 17948022], [17948740, 17948872], [17949071, 17949199], [17950285, 17950472], [17951038, 17951150], [17952197, 17952355], [17952448, 17952571], [17953124, 17953419], [17953835, 17953981], [17954188, 17954300], [17954585, 17954709], [17955042, 17955270], [17958754, 17958800]] None
ENST00000458235 [[17935594, 17937719], [17940916, 17941027], [17941311, 17941429], [17942036, 17942209], [17942482, 17942607], [17943327, 17943517], [17943598, 17943738], [17945379, 17945530], [17945660, 17945812], [17945891, 17946024], [17946732, 17946860], [17947937, 17948022], [17948740, 17948872], [17949071, 17949199], [17950285, 17950472], [17951038, 17951150], [17952197, 17952355], [17952448, 17952571], [17953124, 17953419], [17953835, 17953981], [17954188, 17954300], [17954585, 17954709], [17955042, 17955239], [17958754, 17958841]] [[17937551, 17937719], [17940916, 17941027], [17941311, 17941429], [17942036, 17942209], [17942482, 17942607], [17943327, 17943517], [17943598, 17943738], [17945379, 17945530], [17945660, 17945812], [17945891, 17946024], [17946732, 17946860], [17947937, 17948022], [17948740, 17948872], [17949071, 17949199], [17950285, 17950472], [17951038, 17951150], [17952197, 17952355], [17952448, 17952571], [17953124, 17953419], [17953835, 17953981], [17954188, 17954300], [17954585, 17954709], [17955042, 17955226]]
ENST00000534444 [[17940596, 17941027], [17941311, 17941429], [17942036, 17942209], [17942482, 17942607], [17943327, 17943517], [17943598, 17943738], [17945379, 17945530], [17945660, 17945812], [17945891, 17946024], [17946732, 17946860], [17947937, 17948022], [17948740, 17948872], [17949071, 17949199], [17950285, 17950472], [17951038, 17951150], [17952197, 17952355], [17952448, 17952571], [17953124, 17953419], [17953835, 17953981], [17954188, 17954300], [17954585, 17954709], [17955042, 17955239], [17958754, 17958826]] [[17940838, 17941027], [17941311, 17941429], [17942036, 17942209], [17942482, 17942607], [17943327, 17943517], [17943598, 17943738], [17945379, 17945530], [17945660, 17945812], [17945891, 17946024], [17946732, 17946860], [17947937, 17948022], [17948740, 17948872], [17949071, 17949199], [17950285, 17950472], [17951038, 17951150], [17952197, 17952355], [17952448, 17952571], [17953124, 17953419], [17953835, 17953981], [17954188, 17954300], [17954585, 17954709], [17955042, 17955226]]
ENST00000526008 [[17949078, 17949199], [17949988, 17950102], [17950285, 17950472], [17951038, 17951150], [17952197, 17952355], [17952448, 17952571], [17953124, 17953419], [17953835, 17953981], [17954188, 17954300], [17954585, 17954709], [17955042, 17955239], [17958754, 17958841]] None
ENST00000528293 [[17953243, 17953981], [17954188, 17954300], [17955042, 17955239], [17958754, 17958880]] None
ENST00000527670 [[17936960, 17937719], [17940916, 17941027], [17941311, 17941429], [17942036, 17942209], [17942482, 17942607], [17943327, 17943517], [17943598, 17943738], [17945379, 17945530], [17945660, 17945812], [17945891, 17946024], [17946732, 17946860], [17947937, 17948022], [17948740, 17948872], [17949071, 17949199], [17950285, 17950472], [17951038, 17951150], [17952197, 17952355], [17952448, 17952571], [17953124, 17953419], [17953835, 17953981], [17954188, 17954300], [17954585, 17954709], [17955042, 17955256]] [[17937551, 17937719], [17940916, 17941027], [17941311, 17941429], [17942036, 17942209], [17942482, 17942607], [17943327, 17943517], [17943598, 17943738], [17945379, 17945530], [17945660, 17945812], [17945891, 17946024], [17946732, 17946860], [17947937, 17948022], [17948740, 17948872], [17949071, 17949199], [17950285, 17950472], [17951038, 17951150], [17952197, 17952355], [17952448, 17952571], [17953124, 17953419], [17953835, 17953981], [17954188, 17954300], [17954585, 17954709], [17955042, 17955226]]
ENST00000528705 [[17950232, 17950472], [17951038, 17951150], [17952197, 17952355], [17952448, 17952571], [17953124, 17953334]] None
NM_000215 [[17935590, 17937719], [17940916, 17941027], [17941311, 17941429], [17942036, 17942209], [17942482, 17942607], [17943327, 17943517], [17943598, 17943738], [17945379, 17945530], [17945660, 17945812], [17945891, 17946024], [17946732, 17946860], [17947937, 17948022], [17948740, 17948872], [17949071, 17949199], [17950285, 17950472], [17951038, 17951150], [17952197, 17952355], [17952448, 17952571], [17953124, 17953419], [17953835, 17953981], [17954188, 17954300], [17954585, 17954709], [17955042, 17955239], [17958754, 17958841]] [[17937551, 17937719], [17940916, 17941027], [17941311, 17941429], [17942036, 17942209], [17942482, 17942607], [17943327, 17943517], [17943598, 17943738], [17945379, 17945530], [17945660, 17945812], [17945891, 17946024], [17946732, 17946860], [17947937, 17948022], [17948740, 17948872], [17949071, 17949199], [17950285, 17950472], [17951038, 17951150], [17952197, 17952355], [17952448, 17952571], [17953124, 17953419], [17953835, 17953981], [17954188, 17954300], [17954585, 17954709], [17955042, 17955226]]
Promoter
Chrom Start End Description
chr19 17958771 17958829 CAGE_peak_1_at_JAK3_5end
chr19 17958832 17958861 CAGE_peak_2_at_JAK3_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr19 GH19I017829 17829788 17831997 1.24 [{'connected_gene': 'MVB12A', 'score': 21.2}, {'connected_gene': 'ENSG00000268030', 'score': 21.16}, {'connected_gene': 'ENSG00000268938', 'score': 17.66}, {'connected_gene': 'COLGALT1', 'score': 15.5}, {'connected_gene': 'ENSG00000269191', 'score': 15.08}, {'connected_gene': 'B3GNT3', 'score': 13.06}, {'connected_gene': 'HAUS8', 'score': 12.44}, {'connected_gene': 'IQCN', 'score': 11.3}, {'connected_gene': 'ELL', 'score': 10.26}, {'connected_gene': 'BST2', 'score': 10.14}, {'connected_gene': 'ENSG00000268743', 'score': 9.91}, {'connected_gene': 'INSL3', 'score': 6.15}, {'connected_gene': 'USE1', 'score': 5.26}, {'connected_gene': 'GC19M017837', 'score': 0.44}, {'connected_gene': 'JAK3', 'score': 0.37}]
chr19 GH19I018117 18117201 18121269 1.58 [{'connected_gene': 'PDE4C', 'score': 9.46}, {'connected_gene': 'IL12RB1', 'score': 5.86}, {'connected_gene': 'IQCN', 'score': 5.84}, {'connected_gene': 'FCHO1', 'score': 1.82}, {'connected_gene': 'JAK3', 'score': 1.22}, {'connected_gene': 'PIR61285', 'score': 0.44}, {'connected_gene': 'GC19P019964', 'score': 0.44}, {'connected_gene': 'PIR41371', 'score': 0.44}, {'connected_gene': 'MAST3', 'score': 0.34}]
chr19 GH19I017845 17845797 17851953 2.18 [{'connected_gene': 'JAK3', 'score': 563.67}, {'connected_gene': 'FCHO1', 'score': 13.96}, {'connected_gene': 'B3GNT3', 'score': 12.85}, {'connected_gene': 'INSL3', 'score': 12.75}, {'connected_gene': 'UNC13A', 'score': 11.27}, {'connected_gene': 'RPL18A', 'score': 9.78}, {'connected_gene': 'MAST3', 'score': 5.47}, {'connected_gene': 'FAM129C', 'score': 4.11}, {'connected_gene': 'IL12RB1', 'score': 3.4}, {'connected_gene': 'ARRDC2', 'score': 2.54}, {'connected_gene': 'IFI30', 'score': 1.47}, {'connected_gene': 'PIR41673', 'score': 0.77}]
chr19 GH19I017793 17792632 17792781 0.4 [{'connected_gene': 'JAK3', 'score': 9.24}, {'connected_gene': 'B3GNT3', 'score': 0.77}, {'connected_gene': 'GC19M017755', 'score': 0.31}]
chr19 GH19I018086 18086343 18092287 2.5 [{'connected_gene': 'IL12RB1', 'score': 571.7}, {'connected_gene': 'ENSG00000268030', 'score': 70.21}, {'connected_gene': 'UPF1', 'score': 68.58}, {'connected_gene': 'IQCN', 'score': 52.93}, {'connected_gene': 'GTPBP3', 'score': 47.91}, {'connected_gene': 'SUGP2', 'score': 45.53}, {'connected_gene': 'ENSG00000268938', 'score': 36.98}, {'connected_gene': 'ENSG00000269191', 'score': 24.3}, {'connected_gene': 'LOC100507551', 'score': 20.78}, {'connected_gene': 'ELL', 'score': 20.34}, {'connected_gene': 'COLGALT1', 'score': 15.47}, {'connected_gene': 'FKBP8', 'score': 13.44}, {'connected_gene': 'SLC27A1', 'score': 12.01}, {'connected_gene': 'MVB12A', 'score': 11.09}, {'connected_gene': 'ENSG00000269815', 'score': 10.92}, {'connected_gene': 'FCHO1', 'score': 10.23}, {'connected_gene': 'LRRC25', 'score': 8.89}, {'connected_gene': 'UBA52', 'score': 7.84}, {'connected_gene': 'MAST3', 'score': 6.52}, {'connected_gene': 'ARRDC2', 'score': 6.42}, {'connected_gene': 'JAK3', 'score': 6.19}, {'connected_gene': 'IFI30', 'score': 2.68}, {'connected_gene': 'RPS18P13', 'score': 0.26}]
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 GH19I017778 17778212 17779816 1.89 [{'connected_gene': 'FCHO1', 'score': 17.87}, {'connected_gene': 'ENSG00000268030', 'score': 12.6}, {'connected_gene': 'COLGALT1', 'score': 12.4}, {'connected_gene': 'ENSG00000268743', 'score': 10.39}, {'connected_gene': 'FAM129C', 'score': 5.84}, {'connected_gene': 'JAK3', 'score': 2.57}, {'connected_gene': 'MAST3', 'score': 1.4}, {'connected_gene': 'GC19M017755', 'score': 0.39}, {'connected_gene': 'B3GNT3', '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 GH19I018012 18012894 18019599 1.61 [{'connected_gene': 'IFI30', 'score': 13.75}, {'connected_gene': 'ARRDC2', 'score': 9.91}, {'connected_gene': 'JAK3', 'score': 5.84}, {'connected_gene': 'COMP', 'score': 5.22}, {'connected_gene': 'JUND', 'score': 4.61}, {'connected_gene': 'FCHO1', 'score': 4.24}, {'connected_gene': 'IL12RB1', 'score': 3.99}, {'connected_gene': 'LRRC25', 'score': 2.29}, {'connected_gene': 'MAP1S', 'score': 1.51}, {'connected_gene': 'ENSG00000279172', 'score': 0.44}, {'connected_gene': 'LOC440514', 'score': 0.44}]
chr19 GH19I017827 17827801 17828200 0.51 [{'connected_gene': 'B3GNT3', 'score': 13.08}, {'connected_gene': 'INSL3', 'score': 0.44}, {'connected_gene': 'GC19M017837', 'score': 0.39}, {'connected_gene': 'JAK3', 'score': 0.34}]
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 GH19I017841 17841040 17843588 1.62 [{'connected_gene': 'GC19M017837', 'score': 550.77}, {'connected_gene': 'INSL3', 'score': 13.35}, {'connected_gene': 'RAB3A', 'score': 6.98}, {'connected_gene': 'JAK3', 'score': 4.8}]

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