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
ENST00000345365 [[33426810, 33428055], [33428219, 33428384], [33430272, 33430343], [33430472, 33430563], [33433404, 33433500], [33434006, 33434141], [33434384, 33434466], [33445519, 33445638], [33446129, 33446191], [33446550, 33446888]] [[33427971, 33428055], [33428219, 33428384], [33430272, 33430343], [33430472, 33430563], [33433404, 33433500], [33434006, 33434141], [33434384, 33434466], [33445519, 33445638], [33446129, 33446191], [33446550, 33446632]]
ENST00000394589 [[33426810, 33428055], [33428219, 33428384], [33430272, 33430343], [33430472, 33430563], [33433404, 33433500], [33434006, 33434141], [33434384, 33434466], [33445519, 33445638], [33446129, 33446191], [33446550, 33446748], [33447040, 33447063]] [[33427971, 33428055], [33428219, 33428384], [33430272, 33430343], [33430472, 33430563], [33433404, 33433500], [33434006, 33434141], [33434384, 33434466], [33445519, 33445638], [33446129, 33446191], [33446550, 33446632]]
ENST00000588372 [[33426810, 33428055], [33428219, 33428384], [33430272, 33430343], [33430472, 33430563], [33433146, 33433268], [33433404, 33433500], [33434006, 33434141], [33434384, 33434466], [33448309, 33448516]] [[33433205, 33433268], [33433404, 33433500], [33434006, 33434129]]
ENST00000360276 [[33426815, 33428055], [33428219, 33428384], [33430272, 33430343], [33430472, 33430563], [33433404, 33433500], [33434384, 33434466], [33445519, 33445638], [33446129, 33446191], [33446550, 33446888]] [[33427971, 33428055], [33428219, 33428384], [33430272, 33430343], [33430472, 33430563], [33433404, 33433500], [33434384, 33434466], [33445519, 33445638], [33446129, 33446191], [33446550, 33446632]]
ENST00000588594 [[33427401, 33428055], [33428219, 33428384], [33430272, 33430343], [33430472, 33430563], [33433404, 33433500], [33434384, 33434466], [33446129, 33446191], [33446550, 33446738]] [[33434460, 33434466], [33446129, 33446191], [33446550, 33446632]]
ENST00000335858 [[33427401, 33428055], [33428219, 33428384], [33430272, 33430343], [33430472, 33430563], [33433404, 33433500], [33446129, 33446191], [33446550, 33446764]] [[33427971, 33428055], [33428219, 33428384], [33430272, 33430343], [33430472, 33430563], [33433404, 33433500], [33446129, 33446191], [33446550, 33446632]]
ENST00000586044 [[33427401, 33428055], [33428219, 33428384], [33430272, 33430343], [33430472, 33430563], [33433404, 33433500], [33434006, 33434141], [33434384, 33434466], [33446129, 33446191], [33446550, 33446765]] [[33434460, 33434466], [33446129, 33446191], [33446550, 33446632]]
ENST00000587977 [[33427548, 33428055], [33428219, 33428384], [33430272, 33430343], [33430472, 33430563], [33433404, 33433500], [33434006, 33434141], [33443877, 33444056], [33445519, 33445638], [33446129, 33446191], [33446550, 33446857]] [[33443962, 33444056], [33445519, 33445638], [33446129, 33446191], [33446550, 33446632]]
ENST00000590016 [[33427690, 33428055], [33428219, 33428384], [33430272, 33430343], [33430472, 33430563], [33433404, 33433500], [33434006, 33434141], [33434384, 33434466], [33443877, 33444056], [33446129, 33446191], [33446550, 33446832]] [[33427971, 33428055], [33428219, 33428384], [33430272, 33430343], [33430472, 33430563], [33433404, 33433500], [33434006, 33434141], [33434384, 33434466], [33443877, 33444056], [33446129, 33446191], [33446550, 33446632]]
ENST00000586210 [[33427785, 33428055], [33428219, 33428384], [33430272, 33430343], [33430472, 33430563], [33433404, 33433500], [33434006, 33434141], [33445519, 33445638], [33446129, 33446191], [33446550, 33446735]] [[33434080, 33434141], [33445519, 33445638], [33446129, 33446191], [33446550, 33446632]]
ENST00000460118 [[33427786, 33428055], [33428219, 33428384], [33430272, 33430343], [33430472, 33430563], [33433404, 33433500], [33434006, 33434141], [33445519, 33445638], [33446129, 33446191], [33446550, 33446735]] [[33427971, 33428055], [33428219, 33428384], [33430272, 33430343], [33430472, 33430563], [33433404, 33433500], [33434006, 33434129]]
ENST00000590380 [[33427845, 33428055], [33428219, 33428384], [33430272, 33430343], [33430472, 33430563], [33433404, 33433500], [33434006, 33434080], [33434384, 33434466], [33446129, 33446191], [33446550, 33446763]] None
ENST00000587405 [[33428342, 33428384], [33430272, 33430343], [33430472, 33430563], [33433404, 33433500], [33434006, 33434141], [33434384, 33434466], [33448309, 33448468]] [[33428342, 33428384], [33430272, 33430343], [33430472, 33430563], [33433404, 33433500], [33434006, 33434129]]
ENST00000592577 [[33428380, 33428384], [33430272, 33430343], [33430472, 33430563], [33433404, 33433500], [33434006, 33434141], [33434384, 33434466], [33445519, 33445638], [33446129, 33446191], [33446718, 33446820]] [[33428380, 33428384], [33430272, 33430343], [33430472, 33430563], [33433404, 33433500], [33434006, 33434141], [33434384, 33434466], [33445519, 33445638], [33446129, 33446191], [33446718, 33446806]]
ENST00000590631 [[33430534, 33430563], [33433404, 33433500], [33446129, 33446565]] [[33430534, 33430563], [33433404, 33433449]]
ENST00000415064 [[33431871, 33432009], [33433146, 33433268], [33433404, 33433500], [33434006, 33434141], [33434384, 33434466], [33445519, 33445638], [33446129, 33446191], [33448309, 33448541]] None
ENST00000587982 [[33431954, 33432009], [33433146, 33433500], [33434384, 33434466], [33448309, 33448500]] None
ENST00000592430 [[33433156, 33433309], [33433404, 33433500], [33434006, 33434141], [33434384, 33434466], [33448309, 33448541]] None
ENST00000585947 [[33433204, 33433500], [33434006, 33434141], [33434384, 33434466], [33448309, 33448468]] None
ENST00000585982 [[33433404, 33433500], [33434384, 33434466], [33443877, 33444056], [33446129, 33446191], [33448309, 33448486]] None
ENST00000585343 [[33433459, 33433500], [33434006, 33434141], [33434384, 33434466], [33443877, 33444056], [33445519, 33445638], [33446129, 33446176]] [[33443962, 33444056], [33445519, 33445638], [33446129, 33446176]]
ENST00000592850 [[33433459, 33433500], [33443877, 33444056], [33445519, 33445638], [33446129, 33446176]] [[33443962, 33444056], [33445519, 33445638], [33446129, 33446176]]
ENST00000586186 [[33433459, 33433500], [33434384, 33434466], [33445519, 33445638], [33446129, 33446176]] [[33445573, 33445638], [33446129, 33446176]]
ENST00000592928 [[33433459, 33433500], [33445519, 33445638], [33446129, 33446176]] [[33445573, 33445638], [33446129, 33446176]]
ENST00000589506 [[33434257, 33434466], [33446129, 33446191], [33446550, 33446843]] None
ENST00000357906 [[33443962, 33444056], [33445519, 33445638], [33446129, 33446191], [33446550, 33446888]] [[33443962, 33444056], [33445519, 33445638], [33446129, 33446191], [33446550, 33446632]]
NM_002878 [[33426810, 33428055], [33428219, 33428384], [33430272, 33430343], [33430472, 33430563], [33433404, 33433500], [33434006, 33434141], [33434384, 33434466], [33445519, 33445638], [33446129, 33446191], [33446550, 33446888]] [[33427971, 33428055], [33428219, 33428384], [33430272, 33430343], [33430472, 33430563], [33433404, 33433500], [33434006, 33434141], [33434384, 33434466], [33445519, 33445638], [33446129, 33446191], [33446550, 33446632]]
NM_001142571 [[33426810, 33428055], [33428219, 33428384], [33430272, 33430343], [33430472, 33430563], [33433404, 33433500], [33434006, 33434141], [33434384, 33434466], [33443877, 33444056], [33446129, 33446191], [33446550, 33446888]] [[33427971, 33428055], [33428219, 33428384], [33430272, 33430343], [33430472, 33430563], [33433404, 33433500], [33434006, 33434141], [33434384, 33434466], [33443877, 33444056], [33446129, 33446191], [33446550, 33446632]]
NR_037711 [[33426810, 33428055], [33428219, 33428384], [33430272, 33430343], [33430472, 33430563], [33433404, 33433500], [33434006, 33434141], [33434384, 33434466], [33446129, 33446191], [33446550, 33446888]] None
NR_037712 [[33426810, 33428055], [33428219, 33428384], [33430272, 33430343], [33430472, 33430563], [33433404, 33433500], [33434384, 33434466], [33446129, 33446191], [33446550, 33446888]] None
NM_133629 [[33426810, 33428055], [33428219, 33428384], [33430272, 33430343], [33430472, 33430563], [33433404, 33433500], [33446129, 33446191], [33446550, 33446888]] [[33427971, 33428055], [33428219, 33428384], [33430272, 33430343], [33430472, 33430563], [33433404, 33433500], [33446129, 33446191], [33446550, 33446632]]
Promoter
Chrom Start End Description
chr17 33446752 33446785 CAGE_peak_2_at_RAD51D_5end
chr17 33446826 33446899 CAGE_peak_1_at_RAD51D_5end
chr17 33448495 33448513 CAGE_peak_10_at_RFFL_5end,CAGE_peak_8_at_RAD51D_5end
chr17 33448525 33448533 CAGE_peak_10_at_RAD51D_5end,CAGE_peak_12_at_RFFL_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr17 GH17I035119 35118442 35120471 2.02 [{'connected_gene': 'RAD51D', 'score': 550.77}, {'connected_gene': 'GC17M035118', 'score': 550.77}, {'connected_gene': 'LIG3', 'score': 16.16}, {'connected_gene': 'ZNF830', 'score': 10.86}, {'connected_gene': 'ENSG00000267618', 'score': 0.77}, {'connected_gene': 'RAD51L3-RFFL', 'score': 0.77}, {'connected_gene': 'ENSG00000252328', 'score': 0.34}]
chr17 GH17I035121 35121582 35121641 0.5 [{'connected_gene': 'FNDC8', 'score': 550.77}, {'connected_gene': 'ENSG00000267618', 'score': 550.77}, {'connected_gene': 'RAD51L3-RFFL', 'score': 550.77}, {'connected_gene': 'RAD51D', 'score': 550.77}, {'connected_gene': 'GC17M035118', 'score': 550.77}, {'connected_gene': 'PIR40636', 'score': 0.44}]
chr17 GH17I035256 35256121 35257951 1.31 [{'connected_gene': 'SLFN5', 'score': 24.98}, {'connected_gene': 'RAD51D', 'score': 13.95}, {'connected_gene': 'NLE1', 'score': 9.99}, {'connected_gene': 'SLFN12L', 'score': 9.9}, {'connected_gene': 'ENSG00000267074', 'score': 5.83}, {'connected_gene': 'LOC105371932', 'score': 0.39}, {'connected_gene': 'ENSG00000267364', 'score': 0.22}]
chr17 GH17I035763 35763762 35767323 1.26 [{'connected_gene': 'LIG3', 'score': 135.81}, {'connected_gene': 'ZNF830', 'score': 119.6}, {'connected_gene': 'LINC02001', 'score': 30.04}, {'connected_gene': 'PEX12', 'score': 21.16}, {'connected_gene': 'AP2B1', 'score': 19.59}, {'connected_gene': 'C17orf50', 'score': 19.01}, {'connected_gene': 'GAS2L2', 'score': 11.76}, {'connected_gene': 'CCT6B', 'score': 10.45}, {'connected_gene': 'RAD51D', 'score': 9.96}, {'connected_gene': 'GC17P035762', 'score': 0.77}, {'connected_gene': 'MMP28', 'score': 0.29}, {'connected_gene': 'TAF15', 'score': 0.23}]
chr17 GH17I035116 35116000 35116400 0.51 [{'connected_gene': 'LIG3', 'score': 5.57}, {'connected_gene': 'ENSG00000267618', 'score': 0.44}, {'connected_gene': 'RAD51L3-RFFL', 'score': 0.44}, {'connected_gene': 'RAD51D', 'score': 0.44}, {'connected_gene': 'GC17M035118', 'score': 0.44}, {'connected_gene': 'ENSG00000252328', 'score': 0.37}]
chr17 GH17I035094 35094617 35095802 0.94 [{'connected_gene': 'RNU6-840P', 'score': 550.77}, {'connected_gene': 'ENSG00000252328', 'score': 0.77}, {'connected_gene': 'ENSG00000267618', 'score': 0.31}, {'connected_gene': 'RAD51L3-RFFL', 'score': 0.31}, {'connected_gene': 'RAD51D', 'score': 0.31}]
chr17 GH17I035567 35567033 35569911 1.59 [{'connected_gene': 'LINC02001', 'score': 588.71}, {'connected_gene': 'LIG3', 'score': 169.86}, {'connected_gene': 'ZNF830', 'score': 142.95}, {'connected_gene': 'PEX12', 'score': 39.22}, {'connected_gene': 'AP2B1', 'score': 36.41}, {'connected_gene': 'RAD51D', 'score': 18.22}, {'connected_gene': 'LOC100420062', 'score': 5.56}, {'connected_gene': 'GAS2L2', 'score': 4.92}, {'connected_gene': 'GC17P035574', 'score': 0.44}, {'connected_gene': 'GC17P035575', 'score': 0.44}]
chr17 GH17I034613 34613262 34613686 1.33 [{'connected_gene': 'ENSG00000278860', 'score': 550.77}, {'connected_gene': 'ZNF830', 'score': 29.09}, {'connected_gene': 'LINC02001', 'score': 27.42}, {'connected_gene': 'PEX12', 'score': 19.6}, {'connected_gene': 'LIG3', 'score': 19.2}, {'connected_gene': 'AP2B1', 'score': 18.92}, {'connected_gene': 'RAD51D', 'score': 18.2}, {'connected_gene': 'ASIC2', 'score': 12.7}, {'connected_gene': 'TMEM132E', 'score': 1.95}, {'connected_gene': 'GC17M034595', 'score': 0.37}]
chr17 GH17I035056 35056197 35056346 0.68 [{'connected_gene': 'GC17M035054', 'score': 550.77}, {'connected_gene': 'GC17M035056', 'score': 550.77}, {'connected_gene': 'RAD51D', 'score': 11.27}, {'connected_gene': 'RFFL', 'score': 6.28}, {'connected_gene': 'SLFN5', 'score': 2.13}, {'connected_gene': 'GC17P035052', 'score': 0.77}, {'connected_gene': 'ENSG00000267618', 'score': 0.2}, {'connected_gene': 'RAD51L3-RFFL', 'score': 0.2}]
chr17 GH17I035117 35117002 35117071 0.2 [{'connected_gene': 'ENSG00000267618', 'score': 0.77}, {'connected_gene': 'RAD51L3-RFFL', 'score': 0.77}, {'connected_gene': 'RAD51D', 'score': 0.77}, {'connected_gene': 'GC17M035118', 'score': 0.77}, {'connected_gene': 'ENSG00000252328', 'score': 0.37}]
chr17 GH17I035118 35118145 35118271 0.56 [{'connected_gene': 'ENSG00000267618', 'score': 0.77}, {'connected_gene': 'RAD51L3-RFFL', 'score': 0.77}, {'connected_gene': 'RAD51D', 'score': 0.77}, {'connected_gene': 'GC17M035118', 'score': 0.77}, {'connected_gene': 'ENSG00000252328', 'score': 0.34}]

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