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
ENST00000533632 [[118889141, 118889680], [118889852, 118890027], [118890859, 118890963], [118892469, 118892596], [118894030, 118894844]] [[118889505, 118889680], [118889852, 118890027], [118890859, 118890963], [118892469, 118892596], [118894030, 118894109]]
ENST00000527680 [[118889472, 118889680], [118889852, 118890213]] None
ENST00000447216 [[118889475, 118889680], [118889852, 118890027], [118890859, 118891459]] None
ENST00000528230 [[118889475, 118889680], [118889852, 118889898], [118890859, 118890963], [118892469, 118892596], [118894030, 118894131]] [[118889505, 118889680], [118889852, 118889898], [118890859, 118890963], [118892469, 118892596], [118894030, 118894109]]
ENST00000525303 [[118889475, 118889680], [118892469, 118892596], [118894030, 118894352]] [[118889505, 118889680], [118892469, 118892596], [118894030, 118894109]]
ENST00000434101 [[118889475, 118889680], [118889852, 118889920], [118890914, 118890963], [118892469, 118892596], [118894030, 118894375]] [[118889505, 118889680], [118889852, 118889920], [118890914, 118890963], [118892469, 118892596], [118894030, 118894109]]
ENST00000531290 [[118889475, 118890027], [118890859, 118890963], [118892469, 118892596], [118894030, 118894382]] None
ENST00000359005 [[118889475, 118889680], [118889852, 118890027], [118890859, 118890963], [118892583, 118892596], [118894030, 118894382]] [[118889505, 118889680], [118889852, 118890027], [118890859, 118890963], [118892583, 118892596], [118894030, 118894109]]
ENST00000533058 [[118889475, 118889680], [118889852, 118890027], [118890859, 118890963], [118892469, 118892596], [118895566, 118896164]] [[118889505, 118889680], [118889852, 118890027], [118890859, 118890963], [118892469, 118892596], [118895566, 118895759]]
ENST00000525079 [[118889499, 118889680], [118889852, 118890134], [118890859, 118890963], [118892469, 118892596], [118894030, 118894104]] [[118889505, 118889680], [118889852, 118890031]]
ENST00000533012 [[118889504, 118889680], [118889852, 118890027], [118892469, 118892596], [118894030, 118894369]] [[118889505, 118889680], [118889852, 118890027], [118892469, 118892500]]
ENST00000533149 [[118890101, 118890963], [118892469, 118892596], [118894030, 118894381]] None
ENST00000524797 [[118891026, 118892596], [118894030, 118894384]] None
ENST00000526141 [[118892477, 118892596], [118893719, 118893992]] None
NM_001318494 [[118889178, 118889680], [118892469, 118892596], [118894030, 118894384]] [[118889505, 118889680], [118892469, 118892596], [118894030, 118894109]]
NM_001318490 [[118889178, 118889680], [118889852, 118889898], [118890859, 118890963], [118892469, 118892596], [118894030, 118894384]] [[118889505, 118889680], [118889852, 118889898], [118890859, 118890963], [118892469, 118892596], [118894030, 118894109]]
NM_001318489 [[118889178, 118889680], [118889852, 118889920], [118890914, 118890963], [118892469, 118892596], [118894030, 118894384]] [[118889505, 118889680], [118889852, 118889920], [118890914, 118890963], [118892469, 118892596], [118894030, 118894109]]
NM_001318486 [[118889178, 118889680], [118889852, 118890027], [118892469, 118892596], [118894030, 118894384]] [[118889891, 118890027], [118892469, 118892596], [118894030, 118894109]]
NM_001318488 [[118889178, 118889680], [118889852, 118890027], [118890859, 118890963], [118892583, 118892596], [118894030, 118894384]] [[118889505, 118889680], [118889852, 118890027], [118890859, 118890963], [118892583, 118892596], [118894030, 118894109]]
NM_016146 [[118889178, 118889680], [118889852, 118890027], [118890859, 118890963], [118892469, 118892596], [118894030, 118894384]] [[118889505, 118889680], [118889852, 118890027], [118890859, 118890963], [118892469, 118892596], [118894030, 118894109]]
NM_001318492 [[118889178, 118889680], [118889852, 118890134], [118890859, 118890963], [118892469, 118892596], [118894030, 118894384]] [[118890099, 118890134], [118890859, 118890963], [118892469, 118892596], [118894030, 118894109]]
Promoter
Chrom Start End Description
chr11 118889153 118889232 CAGE_peak_2_at_TRAPPC4_5end
chr11 118889456 118889507 CAGE_peak_1_at_TRAPPC4_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr11 GH11I118904 118904309 118905535 0.2 [{'connected_gene': 'UPK2', 'score': 12.33}, {'connected_gene': 'FOXR1', 'score': 12.19}, {'connected_gene': 'ENSG00000222529', 'score': 12.19}, {'connected_gene': 'CCDC84', 'score': 11.35}, {'connected_gene': 'ENSG00000255121', 'score': 11.34}, {'connected_gene': 'HMBS', 'score': 10.18}, {'connected_gene': 'H2AFX', 'score': 10.17}, {'connected_gene': 'C2CD2L', 'score': 10.16}, {'connected_gene': 'DPAGT1', 'score': 10.16}, {'connected_gene': 'TRAPPC4', 'score': 4.79}, {'connected_gene': 'GC11P118898', 'score': 0.44}, {'connected_gene': 'MIR4492', 'score': 0.44}, {'connected_gene': 'BCL9L', 'score': 0.34}]
chr11 GH11I119076 119076663 119079195 0.2 [{'connected_gene': 'VPS11', 'score': 30.51}, {'connected_gene': 'HMBS', 'score': 16.07}, {'connected_gene': 'C2CD2L', 'score': 13.16}, {'connected_gene': 'DPAGT1', 'score': 13.12}, {'connected_gene': 'HYOU1', 'score': 12.66}, {'connected_gene': 'ENSG00000255114', 'score': 12.62}, {'connected_gene': 'SLC37A4', 'score': 12.05}, {'connected_gene': 'RPS25', 'score': 12.03}, {'connected_gene': 'TRAPPC4', 'score': 12.03}, {'connected_gene': 'HINFP', 'score': 10.86}, {'connected_gene': 'NLRX1', 'score': 10.74}, {'connected_gene': 'UPK2', 'score': 9.68}, {'connected_gene': 'RN7SL688P', 'score': 9.3}, {'connected_gene': 'BCL9L', 'score': 9.29}, {'connected_gene': 'ENSG00000271751', 'score': 6.46}, {'connected_gene': 'ENSG00000272186', 'score': 0.39}]
chr11 GH11I119066 119066571 119068801 2.06 [{'connected_gene': 'VPS11', 'score': 587.92}, {'connected_gene': 'ENSG00000272186', 'score': 550.77}, {'connected_gene': 'DPAGT1', 'score': 24.02}, {'connected_gene': 'HMBS', 'score': 16.77}, {'connected_gene': 'ARCN1', 'score': 13.31}, {'connected_gene': 'H2AFX', 'score': 12.96}, {'connected_gene': 'C2CD2L', 'score': 12.94}, {'connected_gene': 'KMT2A', 'score': 12.53}, {'connected_gene': 'ENSG00000254909', 'score': 12.38}, {'connected_gene': 'SLC37A4', 'score': 12.37}, {'connected_gene': 'RPS25', 'score': 12.34}, {'connected_gene': 'TRAPPC4', 'score': 12.34}, {'connected_gene': 'UBE4A', 'score': 11.86}, {'connected_gene': 'RPL5P30', 'score': 11.19}, {'connected_gene': 'RNF26', 'score': 11.13}, {'connected_gene': 'RPL23AP64', 'score': 11.11}, {'connected_gene': 'HINFP', 'score': 10.95}, {'connected_gene': 'BCL9L', 'score': 10.64}, {'connected_gene': 'NLRX1', 'score': 10.4}, {'connected_gene': 'FOXR1', 'score': 10.18}, {'connected_gene': 'ENSG00000222529', 'score': 10.18}, {'connected_gene': 'UPK2', 'score': 10.13}, {'connected_gene': 'ENSG00000271751', 'score': 5.71}]
chr11 GH11I119015 119015746 119020375 2.06 [{'connected_gene': 'TRAPPC4', 'score': 622.84}, {'connected_gene': 'RPS25', 'score': 550.77}, {'connected_gene': 'MIR3656', 'score': 550.77}, {'connected_gene': 'PIR32149', 'score': 550.77}, {'connected_gene': 'PIR60932', 'score': 550.77}, {'connected_gene': 'GC11P119045', 'score': 550.77}, {'connected_gene': 'BCL9L', 'score': 22.3}, {'connected_gene': 'ARCN1', 'score': 19.32}, {'connected_gene': 'ENSG00000254909', 'score': 14.9}, {'connected_gene': 'UBE4A', 'score': 13.17}, {'connected_gene': 'RPL23AP64', 'score': 12.93}, {'connected_gene': 'ENSG00000254428', 'score': 11.42}, {'connected_gene': 'FOXR1', 'score': 11.2}, {'connected_gene': 'ENSG00000222529', 'score': 11.2}, {'connected_gene': 'UPK2', 'score': 11.11}, {'connected_gene': 'RNF26', 'score': 10.29}, {'connected_gene': 'RN7SL688P', 'score': 10.24}, {'connected_gene': 'CXCR5', 'score': 10.19}, {'connected_gene': 'ENSG00000245869', 'score': 10.19}, {'connected_gene': 'CCDC84', 'score': 0.34}]
chr11 GH11I119020 119020739 119022596 0.79 [{'connected_gene': 'TRAPPC4', 'score': 98.13}, {'connected_gene': 'RPS25', 'score': 4.86}, {'connected_gene': 'MIR3656', 'score': 0.77}, {'connected_gene': 'SLC37A4', 'score': 0.44}]
chr11 GH11I119016 119015391 119015540 0.57 [{'connected_gene': 'TRAPPC4', 'score': 73.38}, {'connected_gene': 'ENSG00000254909', 'score': 0.44}, {'connected_gene': 'CCDC84', 'score': 0.34}]
chr11 GH11I118933 118933008 118934321 0.86 [{'connected_gene': 'TRAPPC4', 'score': 5.62}, {'connected_gene': 'RN7SL688P', 'score': 0.77}, {'connected_gene': 'PIR46957', 'score': 0.44}, {'connected_gene': 'UPK2', 'score': 0.44}]
chr11 GH11I118938 118938532 118938821 0.82 [{'connected_gene': 'TRAPPC4', 'score': 9.33}, {'connected_gene': 'PIR46957', 'score': 0.77}, {'connected_gene': 'RN7SL688P', 'score': 0.44}, {'connected_gene': 'UPK2', 'score': 0.39}]
chr11 GH11I118996 118996434 118999681 2.03 [{'connected_gene': 'CCDC84', 'score': 550.77}, {'connected_gene': 'ENSG00000255121', 'score': 550.77}, {'connected_gene': 'TRAPPC4', 'score': 63.51}, {'connected_gene': 'GC11P119002', 'score': 0.77}]
chr11 GH11I119062 119062930 119063059 0.74 [{'connected_gene': 'HMBS', 'score': 12.99}, {'connected_gene': 'H2AFX', 'score': 12.94}, {'connected_gene': 'C2CD2L', 'score': 12.93}, {'connected_gene': 'DPAGT1', 'score': 12.9}, {'connected_gene': 'SLC37A4', 'score': 12.39}, {'connected_gene': 'RPS25', 'score': 12.36}, {'connected_gene': 'TRAPPC4', 'score': 12.36}, {'connected_gene': 'HINFP', 'score': 10.94}, {'connected_gene': 'NLRX1', 'score': 10.4}, {'connected_gene': 'FOXR1', 'score': 10.18}, {'connected_gene': 'ENSG00000222529', 'score': 10.18}, {'connected_gene': 'UPK2', 'score': 10.14}, {'connected_gene': 'ENSG00000271751', 'score': 0.77}, {'connected_gene': 'GC11P119057', 'score': 0.44}]
chr11 GH11I118979 118979871 118981027 1.13 [{'connected_gene': 'BCL9L', 'score': 21.9}, {'connected_gene': 'TRAPPC4', 'score': 18.42}, {'connected_gene': 'ARCN1', 'score': 13.32}, {'connected_gene': 'KMT2A', 'score': 12.53}, {'connected_gene': 'ENSG00000254909', 'score': 12.48}, {'connected_gene': 'UBE4A', 'score': 11.86}, {'connected_gene': 'RN7SL688P', 'score': 11.39}, {'connected_gene': 'UPK2', 'score': 11.36}, {'connected_gene': 'RPL23AP64', 'score': 11.24}, {'connected_gene': 'DPAGT1', 'score': 11.23}, {'connected_gene': 'RPL5P30', 'score': 11.2}, {'connected_gene': 'RNF26', 'score': 11.12}, {'connected_gene': 'TREH', 'score': 10.6}, {'connected_gene': 'ENSG00000245869', 'score': 10.59}, {'connected_gene': 'CXCR5', 'score': 10.59}, {'connected_gene': 'NLRX1', 'score': 9.52}, {'connected_gene': 'FOXR1', 'score': 0.44}, {'connected_gene': 'ENSG00000280502', 'score': 0.39}]
chr11 GH11I118906 118906480 118931105 2.88 [{'connected_gene': 'BCL9L', 'score': 577.01}, {'connected_gene': 'DPAGT1', 'score': 32.47}, {'connected_gene': 'UBE4A', 'score': 28.16}, {'connected_gene': 'ENSG00000254909', 'score': 28.08}, {'connected_gene': 'RPL23AP64', 'score': 25.24}, {'connected_gene': 'ARCN1', 'score': 24.99}, {'connected_gene': 'ENSG00000254428', 'score': 23.08}, {'connected_gene': 'RNF26', 'score': 19.84}, {'connected_gene': 'CCDC84', 'score': 16.8}, {'connected_gene': 'KMT2A', 'score': 15.66}, {'connected_gene': 'CXCR5', 'score': 15.27}, {'connected_gene': 'MPZL2', 'score': 13.97}, {'connected_gene': 'DDX6', 'score': 13.42}, {'connected_gene': 'RPS25', 'score': 13.01}, {'connected_gene': 'VPS11', 'score': 12.54}, {'connected_gene': 'HMBS', 'score': 12.4}, {'connected_gene': 'ENSG00000222529', 'score': 12.22}, {'connected_gene': 'FOXR1', 'score': 12.22}, {'connected_gene': 'C2CD2L', 'score': 12.12}, {'connected_gene': 'ENSG00000255121', 'score': 11.37}, {'connected_gene': 'ENSG00000245869', 'score': 11.36}, {'connected_gene': 'JAML', 'score': 10.87}, {'connected_gene': 'HINFP', 'score': 10.27}, {'connected_gene': 'H2AFX', 'score': 10.24}, {'connected_gene': 'TRAPPC4', 'score': 9.9}, {'connected_gene': 'RPL5P30', 'score': 9.78}, {'connected_gene': 'UPK2', 'score': 3.43}, {'connected_gene': 'HYOU1', 'score': 2.91}, {'connected_gene': 'SLC37A4', 'score': 2.67}, {'connected_gene': 'PHLDB1', 'score': 2.39}, {'connected_gene': 'CBL', 'score': 2.38}, {'connected_gene': 'CCDC153', 'score': 1.67}, {'connected_gene': 'MIR4492', 'score': 0.44}, {'connected_gene': 'GC11P118898', 'score': 0.34}]
chr11 GH11I118874 118874824 118879867 1.58 [{'connected_gene': 'BCL9L', 'score': 28.47}, {'connected_gene': 'DDX6', 'score': 18.49}, {'connected_gene': 'ENSG00000254909', 'score': 18.27}, {'connected_gene': 'UBE4A', 'score': 17.44}, {'connected_gene': 'ARCN1', 'score': 16.84}, {'connected_gene': 'RPL23AP64', 'score': 16.82}, {'connected_gene': 'ENSG00000254428', 'score': 14.53}, {'connected_gene': 'MPZL2', 'score': 13.97}, {'connected_gene': 'DPAGT1', 'score': 13.42}, {'connected_gene': 'RPS25', 'score': 12.44}, {'connected_gene': 'TREHP1', 'score': 11.89}, {'connected_gene': 'UPK2', 'score': 11.28}, {'connected_gene': 'RN7SL688P', 'score': 11.03}, {'connected_gene': 'RNF26', 'score': 10.41}, {'connected_gene': 'PHLDB1', 'score': 9.36}, {'connected_gene': 'LOC105369519', 'score': 7.75}, {'connected_gene': 'TREH', 'score': 7.72}, {'connected_gene': 'CXCR5', 'score': 6.42}, {'connected_gene': 'CCDC84', 'score': 5.87}, {'connected_gene': 'IFT46', 'score': 4.71}, {'connected_gene': 'TRAPPC4', 'score': 4.54}, {'connected_gene': 'CBL', 'score': 4.45}, {'connected_gene': 'KMT2A', 'score': 4.01}, {'connected_gene': 'VPS11', 'score': 2.82}, {'connected_gene': 'CCDC153', 'score': 1.72}, {'connected_gene': 'ENSG00000201535', 'score': 0.26}]
chr11 GH11I119024 119024284 119031580 2.06 [{'connected_gene': 'SLC37A4', 'score': 560.37}, {'connected_gene': 'TRAPPC4', 'score': 97.79}, {'connected_gene': 'VPS11', 'score': 15.88}, {'connected_gene': 'MIR3656', 'score': 0.44}]
chr11 GH11I118603 118603661 118613594 2.79 [{'connected_gene': 'PHLDB1', 'score': 557.84}, {'connected_gene': 'IFT46', 'score': 35.41}, {'connected_gene': 'TREHP1', 'score': 34.71}, {'connected_gene': 'LOC105369519', 'score': 22.22}, {'connected_gene': 'KMT2A', 'score': 19.99}, {'connected_gene': 'TREH', 'score': 19.54}, {'connected_gene': 'TRAPPC4', 'score': 12.18}, {'connected_gene': 'ENSG00000255176', 'score': 11.7}, {'connected_gene': 'ARCN1', 'score': 10.74}, {'connected_gene': 'VPS11', 'score': 10.69}, {'connected_gene': 'CCDC84', 'score': 10.19}, {'connected_gene': 'HINFP', 'score': 10.16}, {'connected_gene': 'DPAGT1', 'score': 9.99}, {'connected_gene': 'TTC36', 'score': 9.84}, {'connected_gene': 'ENSG00000255384', 'score': 9.7}, {'connected_gene': 'ENSG00000254873', 'score': 9.41}, {'connected_gene': 'ATP5MG', 'score': 9.41}]
chr11 GH11I118200 118200481 118204187 1.11 [{'connected_gene': 'JAML', 'score': 17.61}, {'connected_gene': 'MPZL3', 'score': 15.37}, {'connected_gene': 'MPZL2', 'score': 6.28}, {'connected_gene': 'TRAPPC4', 'score': 4.36}, {'connected_gene': 'HSPE1P18', 'score': 0.44}, {'connected_gene': 'GC11M118201', 'score': 0.39}, {'connected_gene': 'SCN2B', 'score': 0.31}]
chr11 GH11I119023 119023891 119024040 0.46 [{'connected_gene': 'MIR3656', 'score': 0.44}, {'connected_gene': 'SLC37A4', 'score': 0.44}, {'connected_gene': 'TRAPPC4', 'score': 0.44}]
chr11 GH11I119065 119065530 119065679 0.75 [{'connected_gene': 'ENSG00000271751', 'score': 550.77}, {'connected_gene': 'H2AFX', 'score': 12.96}, {'connected_gene': 'C2CD2L', 'score': 12.93}, {'connected_gene': 'DPAGT1', 'score': 12.91}, {'connected_gene': 'SLC37A4', 'score': 12.39}, {'connected_gene': 'RPS25', 'score': 12.34}, {'connected_gene': 'TRAPPC4', 'score': 12.34}, {'connected_gene': 'HINFP', 'score': 10.94}, {'connected_gene': 'NLRX1', 'score': 10.4}, {'connected_gene': 'FOXR1', 'score': 10.18}, {'connected_gene': 'ENSG00000222529', 'score': 10.18}, {'connected_gene': 'UPK2', 'score': 10.13}, {'connected_gene': 'GC11P119057', 'score': 0.44}]
chr11 GH11I118886 118886402 118891273 1.33 [{'connected_gene': 'ENSG00000245869', 'score': 550.77}, {'connected_gene': 'BCL9L', 'score': 11.44}, {'connected_gene': 'UPK2', 'score': 11.44}, {'connected_gene': 'RN7SL688P', 'score': 11.42}, {'connected_gene': 'DDX6', 'score': 11.08}, {'connected_gene': 'FOXR1', 'score': 10.82}, {'connected_gene': 'ENSG00000222529', 'score': 10.82}, {'connected_gene': 'TRAPPC4', 'score': 4.88}, {'connected_gene': 'LOC105369519', 'score': 4.45}, {'connected_gene': 'GC11P118898', 'score': 0.44}, {'connected_gene': 'CXCR5', 'score': 0.44}]

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