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
ENST00000374279 [[114659045, 114659593], [114676884, 114677026], [114685128, 114685231], [114687056, 114687158], [114688663, 114688776], [114691779, 114691958], [114693550, 114693637], [114694449, 114694639], [114695106, 114697649]] [[114659495, 114659593], [114676884, 114677026], [114685128, 114685231], [114687056, 114687158], [114688663, 114688776], [114691779, 114691958], [114693550, 114693637], [114694449, 114694639], [114695106, 114695277]]
ENST00000490110 [[114659480, 114659593], [114676884, 114677026], [114678038, 114678116], [114685128, 114685231], [114687056, 114687158], [114688663, 114688706]] None
ENST00000495085 [[114659480, 114659593], [114676884, 114677026], [114685096, 114685231], [114687056, 114687158], [114688663, 114688776], [114691779, 114691946]] None
ENST00000489355 [[114659456, 114659593], [114676884, 114677273]] None
ENST00000474306 [[114691528, 114691958], [114693550, 114693588]] None
NM_003358 [[114659045, 114659593], [114676884, 114677026], [114685128, 114685231], [114687056, 114687158], [114688663, 114688776], [114691779, 114691958], [114693550, 114693637], [114694449, 114694639], [114695106, 114697654]] [[114659495, 114659593], [114676884, 114677026], [114685128, 114685231], [114687056, 114687158], [114688663, 114688776], [114691779, 114691958], [114693550, 114693637], [114694449, 114694639], [114695106, 114695277]]
Promoter
Chrom Start End Description
chr9 114659084 114659102 CAGE_peak_1_at_UGCG_5end
chr9 114659336 114659458 CAGE_peak_2_at_UGCG_5end
chr9 114695499 114695529 CAGE_peak_4_at_UGCG_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr9 GH09I112376 112376964 112381725 2.07 [{'connected_gene': 'HSDL2', 'score': 595.2}, {'connected_gene': 'GC09M112376', 'score': 550.77}, {'connected_gene': 'PTBP3', 'score': 15.79}, {'connected_gene': 'PRPF4', 'score': 13.36}, {'connected_gene': 'UGCG', 'score': 11.07}, {'connected_gene': 'FKBP15', 'score': 11.05}, {'connected_gene': 'SUSD1', 'score': 6.4}, {'connected_gene': 'RPL32P22', 'score': 0.37}]
chr9 GH09I111923 111923908 111930976 1.21 [{'connected_gene': 'UGCG', 'score': 17.95}, {'connected_gene': 'GNG10', 'score': 7.19}, {'connected_gene': 'MIR4668', 'score': 0.77}]
chr9 GH09I111895 111895081 111905616 2.48 [{'connected_gene': 'UGCG', 'score': 550.77}, {'connected_gene': 'RNU6-1013P', 'score': 11.05}, {'connected_gene': 'GNG10', 'score': 6.87}, {'connected_gene': 'ENSG00000224067', 'score': 4.92}, {'connected_gene': 'C9orf84', 'score': 4.87}, {'connected_gene': 'PTGR1', 'score': 4.74}, {'connected_gene': 'MIR4668', 'score': 0.29}]
chr9 GH09I111942 111942522 111946384 1.09 [{'connected_gene': 'UGCG', 'score': 12.12}, {'connected_gene': 'RNU6-710P', 'score': 10.94}, {'connected_gene': 'RNU6-1013P', 'score': 10.79}, {'connected_gene': 'GNG10', 'score': 6.45}, {'connected_gene': 'DNAJC25', 'score': 4.84}, {'connected_gene': 'MIR4668', 'score': 0.39}]
chr9 GH09I111972 111972360 111976139 1.22 [{'connected_gene': 'UGCG', 'score': 12.27}, {'connected_gene': 'RNU6-710P', 'score': 12.19}, {'connected_gene': 'RNU6-1013P', 'score': 10.78}, {'connected_gene': 'MIR4668', 'score': 0.26}]
chr9 GH09I111906 111906577 111907744 0.43 [{'connected_gene': 'UGCG', 'score': 0.39}, {'connected_gene': 'MIR4668', 'score': 0.34}]
chr9 GH09I111919 111919745 111920174 0.52 [{'connected_gene': 'RPL32P22', 'score': 9.83}, {'connected_gene': 'GNG10', 'score': 5.67}, {'connected_gene': 'MIR4668', 'score': 0.39}, {'connected_gene': 'UGCG', 'score': 0.34}]
chr9 GH09I111876 111876788 111877218 0.2 [{'connected_gene': 'GNG10', 'score': 7.46}, {'connected_gene': 'UGCG', 'score': 0.37}, {'connected_gene': 'RNU6-1013P', 'score': 0.28}]
chr9 GH09I111866 111866887 111867816 1.15 [{'connected_gene': 'GNG10', 'score': 4.06}, {'connected_gene': 'RNU6-1013P', 'score': 0.31}, {'connected_gene': 'UGCG', 'score': 0.31}]
chr9 GH09I111921 111921831 111923505 0.46 [{'connected_gene': 'GNG10', 'score': 5.84}, {'connected_gene': 'MIR4668', 'score': 0.44}, {'connected_gene': 'UGCG', 'score': 0.31}]
chr9 GH09I111851 111851048 111852425 1.18 [{'connected_gene': 'PTGR1', 'score': 4.59}, {'connected_gene': 'GNG10', 'score': 4.23}, {'connected_gene': 'RNU6-1013P', 'score': 0.39}, {'connected_gene': 'UGCG', 'score': 0.25}]
chr9 GH09I111854 111854504 111855948 0.31 [{'connected_gene': 'C9orf84', 'score': 7.38}, {'connected_gene': 'PTGR1', 'score': 5.97}, {'connected_gene': 'GNG10', 'score': 4.96}, {'connected_gene': 'RNU6-1013P', 'score': 0.37}, {'connected_gene': 'UGCG', 'score': 0.26}]
chr9 GH09I111844 111844081 111844230 0.66 [{'connected_gene': 'C9orf84', 'score': 19.07}, {'connected_gene': 'ENSG00000224067', 'score': 11.74}, {'connected_gene': 'RNU6-1013P', 'score': 0.77}, {'connected_gene': 'UGCG', 'score': 0.23}]
chr9 GH09I112072 112072180 112076211 1.65 [{'connected_gene': 'C9orf84', 'score': 11.01}, {'connected_gene': 'ENSG00000224067', 'score': 11.01}, {'connected_gene': 'RNU6-1013P', 'score': 10.88}, {'connected_gene': 'SUSD1', 'score': 5.25}, {'connected_gene': 'UGCG', 'score': 3.98}, {'connected_gene': 'GNG10', 'score': 1.69}, {'connected_gene': 'PTGR1', 'score': 1.61}, {'connected_gene': 'ENSG00000259953', 'score': 0.28}, {'connected_gene': 'RNU6-855P', 'score': 0.21}]
chr9 GH09I112068 112068522 112071400 1.55 [{'connected_gene': 'RNU6-1013P', 'score': 10.88}, {'connected_gene': 'UGCG', 'score': 5.79}, {'connected_gene': 'GNG10', 'score': 3.7}, {'connected_gene': 'SUSD1', 'score': 2.36}, {'connected_gene': 'ENSG00000259953', 'score': 0.29}, {'connected_gene': 'RNU6-855P', 'score': 0.2}]
chr9 GH09I112064 112064418 112067709 1.52 [{'connected_gene': 'RNU6-1013P', 'score': 10.88}, {'connected_gene': 'ENSG00000259953', 'score': 5.42}, {'connected_gene': 'UGCG', 'score': 2.71}, {'connected_gene': 'RNU6-855P', 'score': 0.19}, {'connected_gene': 'SUSD1', 'score': 0.14}]
chr9 GH09I111913 111913601 111913800 0.51 [{'connected_gene': 'RNU6-1013P', 'score': 10.66}, {'connected_gene': 'UGCG', 'score': 0.37}, {'connected_gene': 'MIR4668', 'score': 0.37}]
chr9 GH09I111907 111907922 111909810 1.02 [{'connected_gene': 'RNU6-1013P', 'score': 11.12}, {'connected_gene': 'UGCG', 'score': 0.39}, {'connected_gene': 'MIR4668', 'score': 0.34}]
chr9 GH09I111868 111868581 111868730 0.38 [{'connected_gene': 'RNU6-1013P', 'score': 0.31}, {'connected_gene': 'UGCG', 'score': 0.31}]
chr9 GH09I111857 111857621 111857830 0.93 [{'connected_gene': 'RNU6-1013P', 'score': 0.37}, {'connected_gene': 'UGCG', 'score': 0.28}]
chr9 GH09I111910 111910607 111911871 0.68 [{'connected_gene': 'RNU6-1013P', 'score': 10.66}, {'connected_gene': 'GNG10', 'score': 5.46}, {'connected_gene': 'UGCG', 'score': 0.39}, {'connected_gene': 'MIR4668', 'score': 0.34}]
chr9 GH09I111914 111914113 111917990 1.2 [{'connected_gene': 'RNU6-1013P', 'score': 10.65}, {'connected_gene': 'GNG10', 'score': 7.42}, {'connected_gene': 'UGCG', 'score': 0.37}, {'connected_gene': 'MIR4668', 'score': 0.37}]
chr9 GH09I112048 112048302 112052690 1.46 [{'connected_gene': 'RNU6-710P', 'score': 10.59}, {'connected_gene': 'ENSG00000259953', 'score': 6.0}, {'connected_gene': 'UGCG', 'score': 2.51}, {'connected_gene': 'RNU6-855P', 'score': 0.17}, {'connected_gene': 'SUSD1', 'score': 0.13}]
chr9 GH09I111957 111957323 111963168 1.75 [{'connected_gene': 'RNU6-710P', 'score': 11.31}, {'connected_gene': 'ENSG00000224067', 'score': 10.85}, {'connected_gene': 'C9orf84', 'score': 10.85}, {'connected_gene': 'RNU6-1013P', 'score': 10.82}, {'connected_gene': 'GNG10', 'score': 7.07}, {'connected_gene': 'UGCG', 'score': 3.38}, {'connected_gene': 'MIR4668', 'score': 0.31}]
chr9 GH09I111888 111888645 111893314 1.3 [{'connected_gene': 'RNU6-710P', 'score': 11.68}, {'connected_gene': 'RNU6-1013P', 'score': 11.42}, {'connected_gene': 'GNG10', 'score': 8.61}, {'connected_gene': 'C9orf84', 'score': 5.09}, {'connected_gene': 'PTGR1', 'score': 4.39}, {'connected_gene': 'UGCG', 'score': 0.44}]
chr9 GH09I112010 112010081 112014534 1.56 [{'connected_gene': 'ENSG00000259953', 'score': 4.73}, {'connected_gene': 'SUSD1', 'score': 2.5}, {'connected_gene': 'UGCG', 'score': 1.79}, {'connected_gene': 'LOC105376220', 'score': 0.37}, {'connected_gene': 'RNU6-710P', 'score': 0.37}]
chr9 GH09I112749 112749502 112752250 2.26 [{'connected_gene': 'ENSG00000226609', 'score': 556.57}, {'connected_gene': 'SNX30', 'score': 550.77}, {'connected_gene': 'PRPF4', 'score': 13.37}, {'connected_gene': 'PTBP3', 'score': 12.12}, {'connected_gene': 'FKBP15', 'score': 11.07}, {'connected_gene': 'UGCG', 'score': 11.06}, {'connected_gene': 'ENSG00000271631', 'score': 5.09}, {'connected_gene': 'PIR49803', 'score': 0.13}]
chr9 GH09I112045 112045269 112048200 1.3 [{'connected_gene': 'ENSG00000259953', 'score': 7.09}, {'connected_gene': 'GNG10', 'score': 2.24}, {'connected_gene': 'UGCG', 'score': 2.14}, {'connected_gene': 'PTGR1', 'score': 1.33}, {'connected_gene': 'RNU6-855P', 'score': 0.16}, {'connected_gene': 'SUSD1', 'score': 0.13}]
chr9 GH09I111877 111877971 111878553 0.2 [{'connected_gene': 'ENSG00000224067', 'score': 6.15}, {'connected_gene': 'GNG10', 'score': 5.13}, {'connected_gene': 'UGCG', 'score': 0.37}, {'connected_gene': 'RNU6-1013P', 'score': 0.28}]