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
ENST00000513204 [[25656922, 25656979], [25664119, 25664234], [25664329, 25664464], [25665823, 25665952], [25667749, 25667862]] [[25664122, 25664234], [25664329, 25664464], [25665823, 25665952], [25667749, 25667862]]
ENST00000504570 [[25657443, 25657512], [25664119, 25664234], [25664329, 25664464], [25665823, 25665952], [25667749, 25667893], [25669501, 25669613], [25671268, 25671464], [25672359, 25672455], [25673222, 25673343], [25674708, 25674876], [25675917, 25676034], [25676126, 25676251], [25677756, 25678391]] [[25664122, 25664234], [25664329, 25664464], [25665823, 25665952], [25667749, 25667893], [25669501, 25669613], [25671268, 25671464], [25672359, 25672455], [25673222, 25673343], [25674708, 25674876], [25675917, 25676034], [25676126, 25676251], [25677756, 25678371]]
ENST00000382051 [[25657465, 25657512], [25664119, 25664234], [25664326, 25664464], [25665823, 25665952], [25667749, 25667893], [25669501, 25669613], [25671268, 25671464], [25672359, 25672455], [25673222, 25673343], [25674708, 25674876], [25675917, 25676034], [25676126, 25676251], [25677756, 25680370]] [[25664122, 25664234], [25664326, 25664464], [25665823, 25665952], [25667749, 25667893], [25669501, 25669613], [25671268, 25671464], [25672359, 25672455], [25673222, 25673343], [25674708, 25674876], [25675917, 25676034], [25676126, 25676251], [25677756, 25678371]]
ENST00000503434 [[25658085, 25658186], [25664119, 25664234], [25664329, 25664464], [25665823, 25665952], [25667749, 25667893], [25669501, 25669613], [25671268, 25671464], [25672359, 25672455], [25673222, 25673343], [25674708, 25674876], [25675917, 25676034], [25676126, 25676251], [25677756, 25678371]] [[25664122, 25664234], [25664329, 25664464], [25665823, 25665952], [25667749, 25667893], [25669501, 25669613], [25671268, 25671464], [25672359, 25672455], [25673222, 25673343], [25674708, 25674876], [25675917, 25676034], [25676126, 25676251], [25677756, 25678371]]
ENST00000507530 [[25658090, 25658186], [25664119, 25664234], [25664326, 25664464], [25665823, 25665952], [25667749, 25667853]] [[25664122, 25664234], [25664326, 25664464], [25665823, 25665952], [25667749, 25667853]]
ENST00000510033 [[25666515, 25666736], [25667749, 25667893], [25668547, 25668723], [25669501, 25669613], [25671268, 25671315]] None
NM_001177998 [[25657434, 25657512], [25664119, 25664234], [25664329, 25664464], [25665823, 25665952], [25667749, 25667893], [25669501, 25669613], [25671268, 25671464], [25672359, 25672455], [25673222, 25673343], [25674708, 25674876], [25675917, 25676034], [25676126, 25676251], [25677756, 25680370]] [[25664122, 25664234], [25664329, 25664464], [25665823, 25665952], [25667749, 25667893], [25669501, 25669613], [25671268, 25671464], [25672359, 25672455], [25673222, 25673343], [25674708, 25674876], [25675917, 25676034], [25676126, 25676251], [25677756, 25678371]]
NM_006424 [[25657434, 25657512], [25664119, 25664234], [25664326, 25664464], [25665823, 25665952], [25667749, 25667893], [25669501, 25669613], [25671268, 25671464], [25672359, 25672455], [25673222, 25673343], [25674708, 25674876], [25675917, 25676034], [25676126, 25676251], [25677756, 25680370]] [[25664122, 25664234], [25664326, 25664464], [25665823, 25665952], [25667749, 25667893], [25669501, 25669613], [25671268, 25671464], [25672359, 25672455], [25673222, 25673343], [25674708, 25674876], [25675917, 25676034], [25676126, 25676251], [25677756, 25678371]]
NM_001177999 [[25658085, 25658186], [25664119, 25664234], [25664329, 25664464], [25665823, 25665952], [25667749, 25667893], [25669501, 25669613], [25671268, 25671464], [25672359, 25672455], [25673222, 25673343], [25674708, 25674876], [25675917, 25676034], [25676126, 25676251], [25677756, 25680370]] [[25664122, 25664234], [25664329, 25664464], [25665823, 25665952], [25667749, 25667893], [25669501, 25669613], [25671268, 25671464], [25672359, 25672455], [25673222, 25673343], [25674708, 25674876], [25675917, 25676034], [25676126, 25676251], [25677756, 25678371]]
Promoter
Chrom Start End Description
chr4 25656780 25656793 CAGE_peak_2_at_SLC34A2_5end
chr4 25656920 25656927 CAGE_peak_8_at_SLC34A2_5end
chr4 25657354 25657366 CAGE_peak_3_at_SLC34A2_5end
chr4 25657465 25657481 CAGE_peak_1_at_SLC34A2_5end
chr4 25671333 25671346 CAGE_peak_5_at_SLC34A2_5end
chr4 25678518 25678558 CAGE_peak_7_at_SLC34A2_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr4 GH04I026112 26112551 26112569 0.24 [{'connected_gene': 'LOC645481', 'score': 550.77}, {'connected_gene': 'SLC34A2', 'score': 3.66}, {'connected_gene': 'LOC105374541', 'score': 0.25}]
chr4 GH04I025880 25880255 25880546 1 [{'connected_gene': 'SMIM20', 'score': 7.43}, {'connected_gene': 'SEL1L3', 'score': 6.08}, {'connected_gene': 'RBPJ', 'score': 1.37}, {'connected_gene': 'SLC34A2', 'score': 1.33}, {'connected_gene': 'ENSG00000251009', 'score': 0.39}, {'connected_gene': 'LOC102723733', 'score': 0.37}, {'connected_gene': 'GC04M025896', 'score': 0.37}]
chr4 GH04I025858 25858132 25866368 2.62 [{'connected_gene': 'SEL1L3', 'score': 554.01}, {'connected_gene': 'LOC102723733', 'score': 550.77}, {'connected_gene': 'SMIM20', 'score': 550.77}, {'connected_gene': 'RBPJ', 'score': 3.03}, {'connected_gene': 'ANAPC4', 'score': 2.2}, {'connected_gene': 'SLC34A2', 'score': 1.32}, {'connected_gene': 'ENSG00000251009', 'score': 0.44}]
chr4 GH04I025580 25580959 25581108 0.31 [{'connected_gene': 'SLC34A2', 'score': 10.94}, {'connected_gene': 'PIR55027', 'score': 0.77}, {'connected_gene': 'LOC101929161', 'score': 0.39}]
chr4 GH04I025577 25577367 25580763 0.38 [{'connected_gene': 'SLC34A2', 'score': 10.93}, {'connected_gene': 'PIR55027', 'score': 0.44}, {'connected_gene': 'LOC101929161', 'score': 0.44}]
chr4 GH04I025652 25652399 25652548 0.43 [{'connected_gene': 'SLC34A2', 'score': 7.48}, {'connected_gene': 'LOC100288962', 'score': 0.31}]
chr4 GH04I025653 25653944 25655618 0.52 [{'connected_gene': 'SLC34A2', 'score': 564.07}, {'connected_gene': 'LOC100288962', 'score': 0.29}]
chr4 GH04I025655 25655679 25655948 1.09 [{'connected_gene': 'SLC34A2', 'score': 550.77}, {'connected_gene': 'RPS29P11', 'score': 0.34}]
chr4 GH04I025657 25657031 25657401 0.22 [{'connected_gene': 'SLC34A2', 'score': 563.6}, {'connected_gene': 'RPS29P11', 'score': 0.34}]
chr4 GH04I025656 25656420 25656479 0.68 [{'connected_gene': 'SLC34A2', 'score': 550.77}, {'connected_gene': 'RPS29P11', 'score': 0.34}]
chr4 GH04I025568 25568818 25569805 0.2 [{'connected_gene': 'LOC101929161', 'score': 550.77}, {'connected_gene': 'RNU7-126P', 'score': 12.58}, {'connected_gene': 'ENSG00000248545', 'score': 12.54}, {'connected_gene': 'LOC100288962', 'score': 12.5}, {'connected_gene': 'SLC34A2', 'score': 11.39}, {'connected_gene': 'PIR38125', 'score': 0.21}]
chr4 GH04I025569 25568319 25568468 0.57 [{'connected_gene': 'LOC101929161', 'score': 550.77}, {'connected_gene': 'SLC34A2', 'score': 11.39}, {'connected_gene': 'PIR38125', 'score': 0.21}]

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