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
ENST00000366930 [[218519576, 218520389], [218578510, 218578674], [218607423, 218607556], [218607679, 218607790], [218609311, 218609489], [218610684, 218610838], [218614545, 218617961]] [[218520043, 218520389], [218578510, 218578674], [218607423, 218607556], [218607679, 218607790], [218609311, 218609489], [218610684, 218610838], [218614545, 218614704]]
ENST00000366929 [[218519576, 218520389], [218536675, 218536759], [218578510, 218578674], [218607423, 218607556], [218607679, 218607790], [218609311, 218609489], [218610684, 218610838], [218614545, 218617961]] [[218520043, 218520389], [218536675, 218536759], [218578510, 218578674], [218607423, 218607556], [218607679, 218607790], [218609311, 218609489], [218610684, 218610838], [218614545, 218614704]]
ENST00000488793 [[218520379, 218520389], [218578510, 218578674], [218607423, 218607654]] None
ENST00000479322 [[218607467, 218607594], [218607679, 218607790], [218609311, 218609489], [218610684, 218610838], [218614545, 218615483]] None
NR_138148 [[218518625, 218520389], [218578510, 218578674], [218607423, 218607556], [218607679, 218607790], [218609426, 218609489], [218610684, 218610838], [218614545, 218617961]] None
NM_003238 [[218518625, 218520389], [218578510, 218578674], [218607423, 218607556], [218607679, 218607790], [218609311, 218609489], [218610684, 218610838], [218614545, 218617961]] [[218520043, 218520389], [218578510, 218578674], [218607423, 218607556], [218607679, 218607790], [218609311, 218609489], [218610684, 218610838], [218614545, 218614704]]
NR_138149 [[218518625, 218520389], [218536675, 218536759], [218578510, 218578674], [218607423, 218607556], [218607679, 218607790], [218609426, 218609489], [218610684, 218610838], [218614545, 218617961]] None
NM_001135599 [[218518625, 218520389], [218536675, 218536759], [218578510, 218578674], [218607423, 218607556], [218607679, 218607790], [218609311, 218609489], [218610684, 218610838], [218614545, 218617961]] [[218520043, 218520389], [218536675, 218536759], [218578510, 218578674], [218607423, 218607556], [218607679, 218607790], [218609311, 218609489], [218610684, 218610838], [218614545, 218614704]]
Promoter
Chrom Start End Description
chr1 218518669 218518689 CAGE_peak_1_at_TGFB2_5end
chr1 218518858 218518869 CAGE_peak_21_at_TGFB2_5end
chr1 218518942 218518953 CAGE_peak_28_at_TGFB2_5end
chr1 218519057 218519070 CAGE_peak_11_at_TGFB2_5end
chr1 218519119 218519130 CAGE_peak_16_at_TGFB2_5end
chr1 218519150 218519159 CAGE_peak_20_at_TGFB2_5end
chr1 218519166 218519227 CAGE_peak_4_at_TGFB2_5end
chr1 218519267 218519282 CAGE_peak_10_at_TGFB2_5end
chr1 218519393 218519489 CAGE_peak_2_at_TGFB2_5end
chr1 218519541 218519558 CAGE_peak_14_at_TGFB2_5end
chr1 218519582 218519594 CAGE_peak_8_at_TGFB2_5end
chr1 218519607 218519630 CAGE_peak_5_at_TGFB2_5end
chr1 218519642 218519668 CAGE_peak_3_at_TGFB2_5end
chr1 218520129 218520145 CAGE_peak_12_at_TGFB2_5end
chr1 218615509 218615516 CAGE_peak_13_at_TGFB2_5end
chr1 218616018 218616033 CAGE_peak_19_at_TGFB2_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr1 GH01I218299 218299400 218299800 0.82 [{'connected_gene': 'TGFB2-AS1', 'score': 10.73}, {'connected_gene': 'TGFB2', 'score': 10.73}, {'connected_gene': 'GC01M218293', 'score': 0.77}, {'connected_gene': 'ENSG00000229016', 'score': 0.77}, {'connected_gene': 'RRP15', 'score': 0.39}]
chr1 GH01I218273 218273713 218275096 0.38 [{'connected_gene': 'TGFB2-AS1', 'score': 9.73}, {'connected_gene': 'TGFB2', 'score': 9.73}, {'connected_gene': 'RRP15', 'score': 0.39}, {'connected_gene': 'GC01P218234', 'score': 0.28}]
chr1 GH01I218367 218366719 218366868 0.96 [{'connected_gene': 'TGFB2-AS1', 'score': 11.91}, {'connected_gene': 'TGFB2', 'score': 11.91}, {'connected_gene': 'C1orf143', 'score': 10.59}, {'connected_gene': 'RRP15', 'score': 10.06}, {'connected_gene': 'GC01M218380', 'score': 0.37}]
chr1 GH01I218366 218366876 218367912 1 [{'connected_gene': 'TGFB2-AS1', 'score': 11.91}, {'connected_gene': 'TGFB2', 'score': 11.91}, {'connected_gene': 'C1orf143', 'score': 10.59}, {'connected_gene': 'RRP15', 'score': 10.06}, {'connected_gene': 'GC01M218380', 'score': 0.37}]
chr1 GH01I218368 218368799 218368948 0.4 [{'connected_gene': 'TGFB2-AS1', 'score': 11.91}, {'connected_gene': 'TGFB2', 'score': 11.91}, {'connected_gene': 'C1orf143', 'score': 10.59}, {'connected_gene': 'RRP15', 'score': 10.06}, {'connected_gene': 'GC01M218380', 'score': 0.39}]
chr1 GH01I218400 218400600 218403623 1.13 [{'connected_gene': 'TGFB2-AS1', 'score': 10.97}, {'connected_gene': 'TGFB2', 'score': 10.97}, {'connected_gene': 'C1orf143', 'score': 10.32}, {'connected_gene': 'GC01P218405', 'score': 0.77}, {'connected_gene': 'GC01M218380', 'score': 0.37}]
chr1 GH01I218390 218390739 218390888 0.8 [{'connected_gene': 'TGFB2-AS1', 'score': 10.36}, {'connected_gene': 'TGFB2', 'score': 10.36}, {'connected_gene': 'GC01M218380', 'score': 0.44}, {'connected_gene': 'GC01P218405', 'score': 0.39}]
chr1 GH01I218383 218383391 218385565 0.94 [{'connected_gene': 'TGFB2-AS1', 'score': 11.45}, {'connected_gene': 'TGFB2', 'score': 11.45}, {'connected_gene': 'GC01M218380', 'score': 0.77}, {'connected_gene': 'GC01P218405', 'score': 0.34}]
chr1 GH01I218388 218388735 218389563 0.31 [{'connected_gene': 'TGFB2-AS1', 'score': 10.89}, {'connected_gene': 'TGFB2', 'score': 10.89}, {'connected_gene': 'GC01M218380', 'score': 0.44}, {'connected_gene': 'GC01P218405', 'score': 0.37}]
chr1 GH01I218397 218397615 218398510 0.84 [{'connected_gene': 'TGFB2-AS1', 'score': 10.56}, {'connected_gene': 'TGFB2', 'score': 10.56}, {'connected_gene': 'GC01P218405', 'score': 0.44}, {'connected_gene': 'GC01M218380', 'score': 0.37}]
chr1 GH01I218357 218357201 218357801 0.71 [{'connected_gene': 'TGFB2-AS1', 'score': 0.39}, {'connected_gene': 'TGFB2', 'score': 0.39}, {'connected_gene': 'GC01M218380', 'score': 0.34}]
chr1 GH01I218355 218355262 218356124 0.2 [{'connected_gene': 'TGFB2-AS1', 'score': 0.39}, {'connected_gene': 'TGFB2', 'score': 0.39}, {'connected_gene': 'GC01M218380', 'score': 0.31}]
chr1 GH01I218361 218361192 218362000 1.07 [{'connected_gene': 'TGFB2-AS1', 'score': 0.37}, {'connected_gene': 'TGFB2', 'score': 0.37}, {'connected_gene': 'GC01M218380', 'score': 0.34}]
chr1 GH01I218529 218529311 218530473 0.43 [{'connected_gene': 'TGFB2', 'score': 15.62}, {'connected_gene': 'TGFB2-AS1', 'score': 10.38}, {'connected_gene': 'GC01M218542', 'score': 0.39}, {'connected_gene': 'ENSG00000212610', 'score': 0.39}, {'connected_gene': 'C1orf143', 'score': 0.37}]
chr1 GH01I218394 218394106 218395322 0.4 [{'connected_gene': 'TGFB2', 'score': 16.42}, {'connected_gene': 'TGFB2-AS1', 'score': 10.1}, {'connected_gene': 'GC01M218380', 'score': 0.39}, {'connected_gene': 'GC01P218405', 'score': 0.39}]
chr1 GH01I218344 218344523 218354398 2.86 [{'connected_gene': 'TGFB2', 'score': 550.77}, {'connected_gene': 'RRP15', 'score': 20.6}, {'connected_gene': 'TGFB2-AS1', 'score': 7.44}, {'connected_gene': 'GC01M218380', 'score': 0.29}]
chr1 GH01I218472 218472967 218483446 1.49 [{'connected_gene': 'TGFB2', 'score': 24.93}, {'connected_gene': 'C1orf143', 'score': 11.24}, {'connected_gene': 'TGFB2-AS1', 'score': 10.81}, {'connected_gene': 'RRP15', 'score': 9.86}, {'connected_gene': 'GC01P218475', 'score': 0.77}, {'connected_gene': 'GC01P218504', 'score': 0.31}]
chr1 GH01I218465 218465992 218468069 0.6 [{'connected_gene': 'TGFB2', 'score': 22.57}, {'connected_gene': 'C1orf143', 'score': 11.04}, {'connected_gene': 'TGFB2-AS1', 'score': 10.45}, {'connected_gene': 'GC01P218475', 'score': 0.44}, {'connected_gene': 'TGFB2-OT1', 'score': 0.34}]
chr1 GH01I218487 218487049 218490668 1.32 [{'connected_gene': 'TGFB2', 'score': 24.95}, {'connected_gene': 'C1orf143', 'score': 12.81}, {'connected_gene': 'TGFB2-AS1', 'score': 10.45}, {'connected_gene': 'GC01P218475', 'score': 0.39}, {'connected_gene': 'GC01P218504', 'score': 0.37}]
chr1 GH01I218710 218710612 218713410 0.82 [{'connected_gene': 'TGFB2', 'score': 4.33}, {'connected_gene': 'LOC105372924', 'score': 0.44}, {'connected_gene': 'GC01P218626', 'score': 0.17}]
chr1 GH01I218657 218657526 218662081 1.2 [{'connected_gene': 'TGFB2', 'score': 5.0}, {'connected_gene': 'GC01P218626', 'score': 0.29}, {'connected_gene': 'LOC105372924', 'score': 0.21}]
chr1 GH01I218413 218413789 218415186 0.31 [{'connected_gene': 'TGFB2', 'score': 5.35}, {'connected_gene': 'GC01P218405', 'score': 0.44}, {'connected_gene': 'TGFB2-OT1', 'score': 0.31}]
chr1 GH01I218461 218461986 218465368 1.31 [{'connected_gene': 'TGFB2', 'score': 9.1}, {'connected_gene': 'GC01P218475', 'score': 0.39}, {'connected_gene': 'TGFB2-OT1', 'score': 0.34}]
chr1 GH01I218430 218430919 218431068 0.38 [{'connected_gene': 'TGFB2', 'score': 4.58}, {'connected_gene': 'TGFB2-OT1', 'score': 0.39}, {'connected_gene': 'GC01P218405', 'score': 0.31}]
chr1 GH01I218421 218421308 218422193 0.63 [{'connected_gene': 'TGFB2', 'score': 4.74}, {'connected_gene': 'GC01P218405', 'score': 0.37}, {'connected_gene': 'TGFB2-OT1', 'score': 0.34}]
chr1 GH01I218415 218415511 218416573 0.2 [{'connected_gene': 'TGFB2', 'score': 6.93}, {'connected_gene': 'GC01P218405', 'score': 0.39}, {'connected_gene': 'TGFB2-OT1', 'score': 0.31}]
chr1 GH01I218458 218458981 218461289 1.51 [{'connected_gene': 'TGFB2', 'score': 5.86}, {'connected_gene': 'GC01P218475', 'score': 0.37}, {'connected_gene': 'TGFB2-OT1', 'score': 0.37}]
chr1 GH01I218493 218493816 218500399 1.47 [{'connected_gene': 'TGFB2', 'score': 9.75}, {'connected_gene': 'GC01P218504', 'score': 0.44}, {'connected_gene': 'GC01P218475', 'score': 0.34}]
chr1 GH01I218369 218369292 218373171 1.09 [{'connected_gene': 'RRP15', 'score': 18.49}, {'connected_gene': 'TGFB2-AS1', 'score': 11.89}, {'connected_gene': 'TGFB2', 'score': 11.89}, {'connected_gene': 'C1orf143', 'score': 10.6}, {'connected_gene': 'GC01M218380', 'score': 0.39}]
chr1 GH01I218373 218373573 218378133 1.63 [{'connected_gene': 'RRP15', 'score': 17.06}, {'connected_gene': 'TGFB2-AS1', 'score': 11.59}, {'connected_gene': 'TGFB2', 'score': 11.59}, {'connected_gene': 'C1orf143', 'score': 10.84}, {'connected_gene': 'GC01M218380', 'score': 0.44}]
chr1 GH01I218363 218363459 218365601 1 [{'connected_gene': 'RRP15', 'score': 11.2}, {'connected_gene': 'C1orf143', 'score': 10.71}, {'connected_gene': 'GC01M218380', 'score': 0.37}, {'connected_gene': 'TGFB2-AS1', 'score': 0.37}, {'connected_gene': 'TGFB2', 'score': 0.37}]
chr1 GH01I218439 218439121 218440264 0.78 [{'connected_gene': 'C1orf143', 'score': 11.06}, {'connected_gene': 'TGFB2-AS1', 'score': 10.31}, {'connected_gene': 'TGFB2', 'score': 10.31}, {'connected_gene': 'TGFB2-OT1', 'score': 0.77}, {'connected_gene': 'GC01P218405', 'score': 0.29}]
chr1 GH01I218469 218468379 218468593 0.2 [{'connected_gene': 'C1orf143', 'score': 11.25}, {'connected_gene': 'TGFB2-AS1', 'score': 10.45}, {'connected_gene': 'TGFB2', 'score': 10.45}, {'connected_gene': 'GC01P218475', 'score': 0.44}, {'connected_gene': 'TGFB2-OT1', 'score': 0.31}]
chr1 GH01I218468 218468828 218469024 0.28 [{'connected_gene': 'C1orf143', 'score': 11.25}, {'connected_gene': 'TGFB2-AS1', 'score': 10.2}, {'connected_gene': 'TGFB2', 'score': 10.2}, {'connected_gene': 'GC01P218475', 'score': 0.44}, {'connected_gene': 'TGFB2-OT1', 'score': 0.31}]
chr1 GH01I218537 218537180 218538131 0.74 [{'connected_gene': 'C1orf143', 'score': 11.64}, {'connected_gene': 'TGFB2-AS1', 'score': 10.38}, {'connected_gene': 'TGFB2', 'score': 10.38}, {'connected_gene': 'GC01M218542', 'score': 0.77}, {'connected_gene': 'ENSG00000212610', 'score': 0.77}]
chr1 GH01I218425 218425639 218427008 0.97 [{'connected_gene': 'TGFB2-OT1', 'score': 0.37}, {'connected_gene': 'GC01P218405', 'score': 0.34}, {'connected_gene': 'TGFB2', 'score': 0.18}]
chr1 GH01I218302 218302504 218303212 0.6 [{'connected_gene': 'ENSG00000229016', 'score': 550.77}, {'connected_gene': 'TGFB2-AS1', 'score': 10.74}, {'connected_gene': 'TGFB2', 'score': 10.74}, {'connected_gene': 'GC01P218307', 'score': 0.77}, {'connected_gene': 'RRP15', 'score': 0.37}]
chr1 GH01I218379 218379567 218382393 1.26 [{'connected_gene': 'GC01M218380', 'score': 550.77}, {'connected_gene': 'TGFB2-AS1', 'score': 11.52}, {'connected_gene': 'TGFB2', 'score': 11.52}, {'connected_gene': 'RRP15', 'score': 4.52}]
chr1 GH01I218295 218295243 218295772 0.31 [{'connected_gene': 'GC01M218293', 'score': 550.77}, {'connected_gene': 'TGFB2', 'score': 10.09}, {'connected_gene': 'TGFB2-AS1', 'score': 10.08}, {'connected_gene': 'ENSG00000229016', 'score': 0.44}, {'connected_gene': 'RRP15', 'score': 0.39}]
chr1 GH01I218301 218301414 218302322 0.6 [{'connected_gene': 'ENSG00000229016', 'score': 550.77}, {'connected_gene': 'RRP15', 'score': 15.57}, {'connected_gene': 'TGFB2-AS1', 'score': 10.74}, {'connected_gene': 'TGFB2', 'score': 10.74}, {'connected_gene': 'GC01M218293', 'score': 0.44}]
chr1 GH01I218409 218409455 218410613 0.51 [{'connected_gene': 'GC01P218405', 'score': 0.77}, {'connected_gene': 'TGFB2-OT1', 'score': 0.29}, {'connected_gene': 'TGFB2', 'score': 0.21}]

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