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
ENST00000344442 [[113558119, 113558395], [113565823, 113566027], [113567506, 113567607], [113567743, 113567827], [113567946, 113568111], [113568189, 113568283], [113568354, 113568705], [113568845, 113568990], [113570690, 113570842], [113571616, 113571738], [113574232, 113574392], [113575223, 113575315], [113578402, 113578742]] [[113565825, 113566027], [113567506, 113567607], [113567743, 113567827], [113567946, 113568111], [113568189, 113568283], [113568354, 113568705], [113568845, 113568990], [113570690, 113570842], [113571616, 113571738], [113574232, 113574392], [113575223, 113575315], [113578402, 113578483]]
ENST00000512589 [[113558262, 113558395], [113565823, 113566027], [113566706, 113566818], [113567506, 113567607], [113567743, 113567749]] [[113565825, 113566027], [113566706, 113566810]]
ENST00000509061 [[113558281, 113558395], [113558799, 113558943], [113565580, 113565644], [113565823, 113566027], [113567506, 113567607], [113567743, 113567827], [113567946, 113568111], [113568189, 113568283], [113568354, 113568705], [113568845, 113568990], [113570690, 113570842], [113571616, 113571738], [113574232, 113574392], [113575223, 113575315], [113578402, 113578742]] [[113565625, 113565644], [113565823, 113566027], [113567506, 113567607], [113567743, 113567827], [113567946, 113568111], [113568189, 113568283], [113568354, 113568705], [113568845, 113568990], [113570690, 113570842], [113571616, 113571738], [113574232, 113574392], [113575223, 113575315], [113578402, 113578483]]
ENST00000509622 [[113558282, 113558395], [113565823, 113565924], [113567506, 113567607], [113567743, 113567827], [113567946, 113568111], [113568189, 113568283], [113568354, 113568705], [113568845, 113568990], [113570690, 113570842], [113571616, 113571738], [113574232, 113574392], [113575223, 113575315], [113578402, 113578742]] [[113565825, 113565924], [113567506, 113567545]]
ENST00000508577 [[113558320, 113558395], [113558799, 113558943], [113565823, 113566027], [113567506, 113567607], [113567743, 113567798]] [[113565825, 113566027], [113567506, 113567607], [113567743, 113567798]]
ENST00000513553 [[113558336, 113558395], [113565823, 113565855], [113568874, 113568990], [113570690, 113570842], [113571616, 113571738], [113574232, 113574279]] [[113565825, 113565855], [113568874, 113568990], [113570690, 113570842], [113571616, 113571738], [113574232, 113574279]]
ENST00000504079 [[113558348, 113558395], [113558799, 113559176]] None
ENST00000505034 [[113558611, 113558759], [113565823, 113566027], [113567506, 113567607], [113567743, 113567827], [113567946, 113568111], [113568189, 113568283], [113568354, 113568605]] [[113565825, 113566027], [113567506, 113567607], [113567743, 113567827], [113567946, 113568111], [113568189, 113568283], [113568354, 113568605]]
ENST00000324052 [[113558611, 113558759], [113565823, 113566027], [113567506, 113567607], [113567743, 113567827], [113567946, 113568111], [113568189, 113568283], [113568354, 113568705], [113568845, 113568990], [113570690, 113570842], [113571616, 113571738], [113574232, 113574392], [113575223, 113575315], [113578402, 113578741]] [[113565825, 113566027], [113567506, 113567607], [113567743, 113567827], [113567946, 113568111], [113568189, 113568283], [113568354, 113568705], [113568845, 113568990], [113570690, 113570842], [113571616, 113571738], [113574232, 113574392], [113575223, 113575315], [113578402, 113578483]]
ENST00000505216 [[113558680, 113558759], [113565823, 113565924], [113567506, 113567607], [113567743, 113567827], [113567946, 113568058]] [[113565825, 113565924], [113567506, 113567545]]
ENST00000507443 [[113565459, 113566027], [113567506, 113567607], [113567743, 113567827]] [[113565825, 113566027], [113567506, 113567607], [113567743, 113567827]]
ENST00000503316 [[113568045, 113568111], [113568208, 113568283], [113568357, 113568494]] None
ENST00000511529 [[113568366, 113568705], [113568806, 113568990], [113570690, 113570842], [113571616, 113571738], [113574232, 113574392], [113575223, 113575269]] [[113568366, 113568705], [113568806, 113568990], [113570690, 113570842], [113571616, 113571738], [113574232, 113574392], [113575223, 113575269]]
ENST00000512361 [[113574253, 113574392], [113575223, 113575918]] None
ENST00000503898 [[113576518, 113576666], [113578402, 113578748]] None
NR_049768 [[113558119, 113558395], [113565823, 113565924], [113567506, 113567607], [113567743, 113567827], [113567946, 113568111], [113568189, 113568283], [113568354, 113568705], [113568845, 113568990], [113570690, 113570842], [113571616, 113571738], [113574232, 113574392], [113575223, 113575315], [113578402, 113578748]] None
NM_016648 [[113558119, 113558395], [113565823, 113566027], [113567506, 113567607], [113567743, 113567827], [113567946, 113568111], [113568189, 113568283], [113568354, 113568705], [113568845, 113568990], [113570690, 113570842], [113571616, 113571738], [113574232, 113574392], [113575223, 113575315], [113578402, 113578748]] [[113565825, 113566027], [113567506, 113567607], [113567743, 113567827], [113567946, 113568111], [113568189, 113568283], [113568354, 113568705], [113568845, 113568990], [113570690, 113570842], [113571616, 113571738], [113574232, 113574392], [113575223, 113575315], [113578402, 113578483]]
NM_001267039 [[113558119, 113558395], [113558799, 113558943], [113565580, 113565644], [113565823, 113566027], [113567506, 113567607], [113567743, 113567827], [113567946, 113568111], [113568189, 113568283], [113568354, 113568705], [113568845, 113568990], [113570690, 113570842], [113571616, 113571738], [113574232, 113574392], [113575223, 113575315], [113578402, 113578748]] [[113565625, 113565644], [113565823, 113566027], [113567506, 113567607], [113567743, 113567827], [113567946, 113568111], [113568189, 113568283], [113568354, 113568705], [113568845, 113568990], [113570690, 113570842], [113571616, 113571738], [113574232, 113574392], [113575223, 113575315], [113578402, 113578483]]
NM_015454 [[113558611, 113558759], [113565823, 113566027], [113567506, 113567607], [113567743, 113567827], [113567946, 113568111], [113568189, 113568283], [113568354, 113568705], [113568845, 113568990], [113570690, 113570842], [113571616, 113571738], [113574232, 113574392], [113575223, 113575315], [113578402, 113578748]] [[113565825, 113566027], [113567506, 113567607], [113567743, 113567827], [113567946, 113568111], [113568189, 113568283], [113568354, 113568705], [113568845, 113568990], [113570690, 113570842], [113571616, 113571738], [113574232, 113574392], [113575223, 113575315], [113578402, 113578483]]
Promoter
Chrom Start End Description
chr4 113558272 113558356 CAGE_peak_1_at_LARP7_5end
chr4 113558649 113558669 CAGE_peak_3_at_LARP7_5end
chr4 113558670 113558729 CAGE_peak_2_at_LARP7_5end
chr4 113568207 113568240 CAGE_peak_4_at_LARP7_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr4 GH04I112282 112282560 112290146 2.5 [{'connected_gene': 'TIFA', 'score': 576.63}, {'connected_gene': 'ALPK1', 'score': 552.4}, {'connected_gene': 'FAM241A', 'score': 14.45}, {'connected_gene': 'AP1AR', 'score': 14.02}, {'connected_gene': 'LOC109864269', 'score': 13.4}, {'connected_gene': 'ENSG00000250966', 'score': 11.17}, {'connected_gene': 'RTEL1P1', 'score': 5.38}, {'connected_gene': 'LARP7', 'score': 2.98}, {'connected_gene': 'ZGRF1', 'score': 1.4}, {'connected_gene': 'GC04P112321', 'score': 0.28}]
chr4 GH04I112311 112311929 112313782 1.44 [{'connected_gene': 'TIFA', 'score': 12.72}, {'connected_gene': 'AP1AR', 'score': 6.38}, {'connected_gene': 'ALPK1', 'score': 4.04}, {'connected_gene': 'LARP7', 'score': 2.31}, {'connected_gene': 'GC04P112321', 'score': 0.44}]
chr4 GH04I112230 112230178 112233893 2.29 [{'connected_gene': 'AP1AR', 'score': 550.77}, {'connected_gene': 'ENSG00000260526', 'score': 550.77}, {'connected_gene': 'TIFA', 'score': 17.09}, {'connected_gene': 'LOC109864269', 'score': 13.39}, {'connected_gene': 'ZGRF1', 'score': 11.59}, {'connected_gene': 'LARP7', 'score': 11.08}, {'connected_gene': 'ENSG00000272567', 'score': 0.26}]
chr4 GH04I112746 112746645 112753870 0.79 [{'connected_gene': 'ZGRF1', 'score': 16.33}, {'connected_gene': 'LARP7', 'score': 11.47}, {'connected_gene': 'MIR367', 'score': 11.07}, {'connected_gene': 'MIR302D', 'score': 11.07}, {'connected_gene': 'MIR302A', 'score': 11.07}, {'connected_gene': 'MIR302C', 'score': 11.07}, {'connected_gene': 'LOC109864269', 'score': 11.06}, {'connected_gene': 'GC04M112739', 'score': 0.77}, {'connected_gene': 'GC04M112756', 'score': 0.44}, {'connected_gene': 'ENSG00000202536', 'score': 0.44}]
chr4 GH04I112636 112635743 112638648 2.05 [{'connected_gene': 'ZGRF1', 'score': 573.22}, {'connected_gene': 'LARP7', 'score': 556.68}, {'connected_gene': 'LOC105377372', 'score': 15.17}, {'connected_gene': 'LOC109864269', 'score': 13.74}, {'connected_gene': 'ENSG00000250966', 'score': 11.3}, {'connected_gene': 'MIR367', 'score': 0.39}, {'connected_gene': 'GC04M112615', 'score': 0.31}]
chr4 GH04I112328 112328045 112328114 0.72 [{'connected_gene': 'LARP7', 'score': 12.02}, {'connected_gene': 'ZGRF1', 'score': 12.02}, {'connected_gene': 'LOC105377372', 'score': 11.71}, {'connected_gene': 'NEUROG2', 'score': 11.71}, {'connected_gene': 'GC04P112321', 'score': 0.44}, {'connected_gene': 'GC04P112341', 'score': 0.39}, {'connected_gene': 'ALPK1', 'score': 0.26}]
chr4 GH04I112756 112756683 112760502 0.69 [{'connected_gene': 'LARP7', 'score': 11.78}, {'connected_gene': 'ZGRF1', 'score': 11.78}, {'connected_gene': 'LOC105377372', 'score': 5.63}, {'connected_gene': 'ENSG00000202536', 'score': 0.77}, {'connected_gene': 'GC04M112756', 'score': 0.77}, {'connected_gene': 'GC04M112789', 'score': 0.29}]
chr4 GH04I112635 112635201 112635400 0.31 [{'connected_gene': 'LARP7', 'score': 550.77}, {'connected_gene': 'ZGRF1', 'score': 550.77}, {'connected_gene': 'GC04M112615', 'score': 0.31}, {'connected_gene': 'GC04P112588', 'score': 0.25}]
chr4 GH04I112633 112633525 112633674 0.59 [{'connected_gene': 'LARP7', 'score': 0.77}, {'connected_gene': 'ZGRF1', 'score': 0.77}, {'connected_gene': 'GC04M112615', 'score': 0.31}, {'connected_gene': 'GC04P112588', 'score': 0.26}]
chr4 GH04I112761 112761806 112763918 1.04 [{'connected_gene': 'LARP7', 'score': 11.79}, {'connected_gene': 'ZGRF1', 'score': 11.79}, {'connected_gene': 'ENSG00000202536', 'score': 0.44}, {'connected_gene': 'GC04M112756', 'score': 0.44}, {'connected_gene': 'GC04M112789', 'score': 0.31}]
chr4 GH04I112859 112859441 112862307 0.62 [{'connected_gene': 'LARP7', 'score': 12.45}, {'connected_gene': 'ENSG00000228814', 'score': 0.34}, {'connected_gene': 'LOC100422627', 'score': 0.29}, {'connected_gene': 'ANK2', 'score': 0.26}]
chr4 GH04I112646 112645185 112645254 0.31 [{'connected_gene': 'MIR367', 'score': 0.77}, {'connected_gene': 'LARP7', 'score': 0.44}, {'connected_gene': 'ZGRF1', 'score': 0.44}, {'connected_gene': 'GC04M112615', 'score': 0.37}]
chr4 GH04I112144 112144807 112148138 2.19 [{'connected_gene': 'FAM241A', 'score': 578.8}, {'connected_gene': 'ZGRF1', 'score': 5.53}, {'connected_gene': 'TIFA', 'score': 4.23}, {'connected_gene': 'LARP7', 'score': 3.26}, {'connected_gene': 'AP1AR', 'score': 3.23}, {'connected_gene': 'RPL36AP19', 'score': 0.34}]
chr4 GH04I112645 112645423 112656612 1.09 [{'connected_gene': 'LOC109864269', 'score': 550.77}, {'connected_gene': 'LOC105377372', 'score': 9.28}, {'connected_gene': 'LARP7', 'score': 6.51}, {'connected_gene': 'ZGRF1', 'score': 4.8}, {'connected_gene': 'MIR367', 'score': 0.77}, {'connected_gene': 'MIR302D', 'score': 0.77}, {'connected_gene': 'MIR302A', 'score': 0.77}, {'connected_gene': 'MIR302C', 'score': 0.77}, {'connected_gene': 'MIR302B', 'score': 0.77}, {'connected_gene': 'GC04M112615', 'score': 0.39}]
chr4 GH04I112514 112514088 112517681 1.64 [{'connected_gene': 'LOC105377372', 'score': 569.42}, {'connected_gene': 'NEUROG2', 'score': 550.77}, {'connected_gene': 'ZGRF1', 'score': 5.05}, {'connected_gene': 'ENSG00000272567', 'score': 4.68}, {'connected_gene': 'LARP7', 'score': 4.48}]
chr4 GH04I112754 112754163 112755460 0.2 [{'connected_gene': 'GC04M112756', 'score': 550.77}, {'connected_gene': 'ENSG00000202536', 'score': 550.77}, {'connected_gene': 'LARP7', 'score': 11.46}, {'connected_gene': 'ZGRF1', 'score': 11.46}, {'connected_gene': 'MIR367', 'score': 11.06}, {'connected_gene': 'MIR302D', 'score': 11.06}, {'connected_gene': 'MIR302A', 'score': 11.06}, {'connected_gene': 'MIR302C', 'score': 11.06}, {'connected_gene': 'LOC109864269', 'score': 10.86}, {'connected_gene': 'GC04M112739', 'score': 0.44}]
chr4 GH04I112321 112321742 112322200 0.88 [{'connected_gene': 'GC04P112321', 'score': 550.77}, {'connected_gene': 'LARP7', 'score': 12.02}, {'connected_gene': 'ZGRF1', 'score': 12.02}, {'connected_gene': 'LOC105377372', 'score': 11.7}, {'connected_gene': 'NEUROG2', 'score': 11.7}, {'connected_gene': 'GC04P112341', 'score': 0.37}, {'connected_gene': 'ALPK1', 'score': 0.28}]
chr4 GH04I112709 112709649 112710489 0.2 [{'connected_gene': 'GC04P112709', 'score': 550.77}, {'connected_gene': 'LARP7', 'score': 11.02}, {'connected_gene': 'ZGRF1', 'score': 11.02}, {'connected_gene': 'GC04P112725', 'score': 0.37}]
chr4 GH04I112707 112707719 112709235 0.52 [{'connected_gene': 'GC04P112709', 'score': 550.77}, {'connected_gene': 'ENSG00000250046', 'score': 550.77}, {'connected_gene': 'LARP7', 'score': 11.02}, {'connected_gene': 'ZGRF1', 'score': 11.02}]
chr4 GH04I112704 112704606 112707466 1.59 [{'connected_gene': 'ENSG00000250046', 'score': 550.77}, {'connected_gene': 'LOC109864269', 'score': 24.64}, {'connected_gene': 'MIR367', 'score': 11.26}, {'connected_gene': 'MIR302D', 'score': 11.26}, {'connected_gene': 'MIR302A', 'score': 11.26}, {'connected_gene': 'MIR302C', 'score': 11.26}, {'connected_gene': 'LARP7', 'score': 11.24}, {'connected_gene': 'RPL7AP30', 'score': 10.82}, {'connected_gene': 'ZGRF1', 'score': 4.59}, {'connected_gene': 'WRBP1', 'score': 0.39}]

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