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
ENST00000296456 [[49711434, 49711846], [49711921, 49712054], [49712615, 49712742], [49713126, 49713220], [49713323, 49713399], [49713488, 49713652], [49713810, 49713948], [49714041, 49714133], [49714209, 49714250], [49714335, 49714457], [49715005, 49715066], [49716284, 49716382], [49717025, 49717077], [49717973, 49718062], [49718533, 49718672], [49719154, 49719238], [49719319, 49719400], [49719780, 49719869], [49719978, 49720169], [49720275, 49720378], [49720472, 49720579], [49720669, 49721396]] [[49711834, 49711846], [49711921, 49712054], [49712615, 49712742], [49713126, 49713220], [49713323, 49713399], [49713488, 49713652], [49713810, 49713948], [49714041, 49714133], [49714209, 49714250], [49714335, 49714457], [49715005, 49715066], [49716284, 49716382], [49717025, 49717077], [49717973, 49718062], [49718533, 49718672], [49719154, 49719238], [49719319, 49719400], [49719780, 49719869], [49719978, 49720169], [49720275, 49720378], [49720472, 49720579], [49720669, 49720775]]
ENST00000449966 [[49711446, 49711543], [49713126, 49713220], [49713323, 49713399], [49713488, 49713652], [49713810, 49713948], [49714041, 49714133], [49714209, 49714250], [49714335, 49714458]] [[49713157, 49713220], [49713323, 49713399], [49713488, 49713652], [49713810, 49713948], [49714041, 49714133], [49714209, 49714250], [49714335, 49714458]]
ENST00000483715 [[49711466, 49711543], [49712615, 49713220], [49713323, 49713399], [49713488, 49713785]] None
ENST00000446089 [[49711792, 49711846], [49713126, 49713220], [49713323, 49713399], [49713488, 49713652], [49714041, 49714133], [49714209, 49714250], [49714335, 49714457], [49715005, 49715066], [49716284, 49716382], [49717025, 49717078]] [[49711834, 49711846], [49713126, 49713220], [49713323, 49713394]]
ENST00000491799 [[49711794, 49712054], [49713126, 49713220], [49713323, 49713399], [49713488, 49713652], [49713810, 49713949]] None
ENST00000442186 [[49711799, 49711846], [49713126, 49713220], [49713323, 49713399], [49713488, 49713652], [49713810, 49713948], [49714041, 49714133], [49714209, 49714250], [49714335, 49714457], [49715005, 49715066], [49716284, 49716373]] [[49711799, 49711846], [49713126, 49713220], [49713323, 49713399], [49713488, 49713652], [49713810, 49713948], [49714041, 49714133], [49714209, 49714250], [49714335, 49714457], [49715005, 49715066], [49716284, 49716373]]
ENST00000438011 [[49711799, 49711846], [49711921, 49712054], [49712615, 49712742], [49713126, 49713220], [49713323, 49713399], [49713488, 49713652], [49713810, 49713948], [49714041, 49714133], [49714209, 49714250], [49714335, 49714457], [49715005, 49715066], [49716284, 49716382], [49717025, 49717077], [49717973, 49718062], [49718533, 49718672], [49719154, 49719238], [49719319, 49719400], [49719780, 49719869], [49719978, 49720169], [49720260, 49720378], [49720472, 49720579], [49720669, 49720775]] [[49711834, 49711846], [49711921, 49712054], [49712615, 49712742], [49713126, 49713220], [49713323, 49713399], [49713488, 49713652], [49713810, 49713948], [49714041, 49714133], [49714209, 49714250], [49714335, 49714457], [49715005, 49715066], [49716284, 49716382], [49717025, 49717077], [49717973, 49718062], [49718533, 49718672], [49719154, 49719238], [49719319, 49719400], [49719780, 49719869], [49719978, 49720169], [49720260, 49720378], [49720472, 49720579], [49720669, 49720775]]
ENST00000463995 [[49711811, 49711846], [49711921, 49712054], [49713126, 49713220], [49713323, 49713399], [49713488, 49713948], [49714041, 49714133], [49714209, 49714250], [49714335, 49714428]] None
ENST00000462439 [[49711815, 49712054], [49712615, 49712742], [49713126, 49713220], [49713323, 49713399], [49713488, 49713652], [49713810, 49713939]] None
ENST00000447436 [[49711817, 49711846], [49711921, 49712054], [49713126, 49713220], [49713323, 49713399], [49713488, 49713652], [49714041, 49714133], [49714209, 49714250], [49714335, 49714457], [49715005, 49715066], [49716284, 49716382], [49717025, 49717078]] [[49711834, 49711846], [49711921, 49712054], [49713126, 49713134]]
ENST00000463616 [[49711918, 49712054], [49712615, 49712742], [49713126, 49713220], [49713323, 49713665]] None
ENST00000457042 [[49711918, 49712054], [49712615, 49712742], [49713126, 49713220], [49713323, 49713399], [49713488, 49713652], [49714041, 49714133], [49714209, 49714250], [49714335, 49714458]] [[49711918, 49712054], [49712615, 49712742], [49713126, 49713220], [49713323, 49713399], [49713488, 49713652], [49714041, 49714133], [49714209, 49714250], [49714335, 49714458]]
ENST00000447541 [[49713126, 49713220], [49713323, 49713399], [49713810, 49713948], [49714041, 49714133], [49714209, 49714250], [49714335, 49714457], [49715005, 49715066], [49716284, 49716368]] [[49713126, 49713220], [49713323, 49713394]]
ENST00000482301 [[49714102, 49714133], [49714209, 49714250], [49714335, 49714457], [49715005, 49715066], [49716284, 49716382], [49717025, 49717713]] None
ENST00000469362 [[49716343, 49716382], [49717025, 49717049], [49717982, 49718062], [49718533, 49718672], [49719154, 49719238], [49719319, 49719400], [49719780, 49719869], [49719978, 49720169], [49720275, 49720378]] [[49716343, 49716382], [49717025, 49717049], [49717982, 49718062], [49718533, 49718534]]
ENST00000480772 [[49720033, 49720169], [49720275, 49720378], [49720472, 49720936]] None
NM_001640 [[49711434, 49711846], [49711921, 49712054], [49712615, 49712742], [49713126, 49713220], [49713323, 49713399], [49713488, 49713652], [49713810, 49713948], [49714041, 49714133], [49714209, 49714250], [49714335, 49714457], [49715005, 49715066], [49716284, 49716382], [49717025, 49717077], [49717973, 49718062], [49718533, 49718672], [49719154, 49719238], [49719319, 49719400], [49719780, 49719869], [49719978, 49720169], [49720275, 49720378], [49720472, 49720579], [49720669, 49720934]] [[49711834, 49711846], [49711921, 49712054], [49712615, 49712742], [49713126, 49713220], [49713323, 49713399], [49713488, 49713652], [49713810, 49713948], [49714041, 49714133], [49714209, 49714250], [49714335, 49714457], [49715005, 49715066], [49716284, 49716382], [49717025, 49717077], [49717973, 49718062], [49718533, 49718672], [49719154, 49719238], [49719319, 49719400], [49719780, 49719869], [49719978, 49720169], [49720275, 49720378], [49720472, 49720579], [49720669, 49720775]]
Promoter
Chrom Start End Description
chr3 49711250 49711279 CAGE_peak_5_at_APEH_5end
chr3 49711286 49711296 CAGE_peak_7_at_APEH_5end
chr3 49711391 49711456 CAGE_peak_2_at_APEH_5end
chr3 49711777 49711834 CAGE_peak_1_at_APEH_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr3 GH03I049553 49553271 49555001 1.92 [{'connected_gene': 'BSN', 'score': 550.77}, {'connected_gene': 'BSN-AS2', 'score': 550.77}, {'connected_gene': 'APEH', 'score': 11.73}, {'connected_gene': 'PIR41851', 'score': 0.34}, {'connected_gene': 'GC03P049421', 'score': 0.12}]
chr3 GH03I049520 49519468 49519617 0.51 [{'connected_gene': 'BSN', 'score': 11.71}, {'connected_gene': 'BSN-AS2', 'score': 11.71}, {'connected_gene': 'BSN-AS1', 'score': 11.01}, {'connected_gene': 'APEH', 'score': 10.89}, {'connected_gene': 'PIR41851', 'score': 0.39}, {'connected_gene': 'DAG1', 'score': 0.23}, {'connected_gene': 'GC03P049421', 'score': 0.15}]
chr3 GH03I049524 49524228 49524377 0.58 [{'connected_gene': 'BSN', 'score': 11.71}, {'connected_gene': 'BSN-AS2', 'score': 11.71}, {'connected_gene': 'BSN-AS1', 'score': 11.01}, {'connected_gene': 'APEH', 'score': 10.9}, {'connected_gene': 'PIR41851', 'score': 0.44}, {'connected_gene': 'DAG1', 'score': 0.22}, {'connected_gene': 'GC03P049421', 'score': 0.15}]
chr3 GH03I049338 49338697 49353402 2.66 [{'connected_gene': 'USP4', 'score': 565.03}, {'connected_gene': 'AMT', 'score': 71.69}, {'connected_gene': 'QRICH1', 'score': 41.08}, {'connected_gene': 'ENSG00000235236', 'score': 38.82}, {'connected_gene': 'RBM6', 'score': 32.91}, {'connected_gene': 'ATRIP', 'score': 29.45}, {'connected_gene': 'RBM5', 'score': 29.3}, {'connected_gene': 'WDR6', 'score': 28.82}, {'connected_gene': 'IP6K2', 'score': 27.4}, {'connected_gene': 'ENSG00000230454', 'score': 23.04}, {'connected_gene': 'DALRD3', 'score': 17.18}, {'connected_gene': 'RHOA', 'score': 16.73}, {'connected_gene': 'NICN1', 'score': 15.66}, {'connected_gene': 'SEMA3F-AS1', 'score': 14.61}, {'connected_gene': 'USP19', 'score': 14.04}, {'connected_gene': 'TCTA', 'score': 12.02}, {'connected_gene': 'FAM212A', 'score': 11.68}, {'connected_gene': 'APEH', 'score': 11.53}, {'connected_gene': 'ENSG00000223343', 'score': 11.11}, {'connected_gene': 'RHOA-IT1', 'score': 11.06}, {'connected_gene': 'NAT6', 'score': 11.0}, {'connected_gene': 'C3orf62', 'score': 10.9}, {'connected_gene': 'IMPDH2', 'score': 10.5}, {'connected_gene': 'NDUFAF3', 'score': 10.5}, {'connected_gene': 'MIR191', 'score': 10.5}, {'connected_gene': 'MIR425', 'score': 10.5}, {'connected_gene': 'P4HTM', 'score': 10.45}, {'connected_gene': 'QARS', 'score': 9.64}, {'connected_gene': 'CDHR4', 'score': 5.64}, {'connected_gene': 'ARIH2', 'score': 3.95}, {'connected_gene': 'MST1', 'score': 3.73}, {'connected_gene': 'IP6K1', 'score': 3.52}, {'connected_gene': 'UBA7', 'score': 2.45}, {'connected_gene': 'GC03M049358', 'score': 0.39}]
chr3 GH03I049686 49686242 49690453 2.25 [{'connected_gene': 'MST1', 'score': 559.59}, {'connected_gene': 'PIR39139', 'score': 550.77}, {'connected_gene': 'RNF123', 'score': 550.77}, {'connected_gene': 'AMT', 'score': 19.19}, {'connected_gene': 'RBM6', 'score': 15.08}, {'connected_gene': 'QRICH1', 'score': 13.66}, {'connected_gene': 'CDHR4', 'score': 12.75}, {'connected_gene': 'AMIGO3', 'score': 12.64}, {'connected_gene': 'GMPPB', 'score': 12.63}, {'connected_gene': 'IMPDH2', 'score': 12.17}, {'connected_gene': 'USP19', 'score': 11.55}, {'connected_gene': 'PHF5EP', 'score': 11.1}, {'connected_gene': 'IP6K1', 'score': 11.08}, {'connected_gene': 'TMEM115', 'score': 10.21}, {'connected_gene': 'APEH', 'score': 7.85}, {'connected_gene': 'PIR43040', 'score': 0.77}, {'connected_gene': 'GC03P049421', 'score': 0.06}]
chr3 GH03I049519 49519800 49520891 0.7 [{'connected_gene': 'IP6K2', 'score': 11.88}, {'connected_gene': 'BSN', 'score': 11.71}, {'connected_gene': 'BSN-AS2', 'score': 11.71}, {'connected_gene': 'BSN-AS1', 'score': 11.01}, {'connected_gene': 'APEH', 'score': 10.89}, {'connected_gene': 'PIR41851', 'score': 0.39}, {'connected_gene': 'DAG1', 'score': 0.23}, {'connected_gene': 'GC03P049421', 'score': 0.15}]
chr3 GH03I049898 49898118 49907283 2.09 [{'connected_gene': 'MST1R', 'score': 559.86}, {'connected_gene': 'GC03P049904', 'score': 550.77}, {'connected_gene': 'ENSG00000228008', 'score': 550.77}, {'connected_gene': 'RBM6', 'score': 45.84}, {'connected_gene': 'GMPPB', 'score': 6.98}, {'connected_gene': 'IFRD2', 'score': 3.88}, {'connected_gene': 'SEMA3F', 'score': 3.25}, {'connected_gene': 'MON1A', 'score': 2.83}, {'connected_gene': 'APEH', 'score': 2.78}, {'connected_gene': 'TUSC2', 'score': 1.82}, {'connected_gene': 'FAM212A', 'score': 1.41}, {'connected_gene': 'ENSG00000230698', 'score': 0.77}, {'connected_gene': 'LOC102724438', 'score': 0.77}, {'connected_gene': 'GC03P049762', 'score': 0.12}, {'connected_gene': 'GC03P049763', 'score': 0.12}, {'connected_gene': 'GC03P049421', 'score': 0.04}]
chr3 GH03I049409 49409349 49418264 2.46 [{'connected_gene': 'RHOA', 'score': 550.77}, {'connected_gene': 'TCTA', 'score': 550.77}, {'connected_gene': 'AMT', 'score': 45.15}, {'connected_gene': 'CCDC71', 'score': 22.23}, {'connected_gene': 'WDR6', 'score': 15.54}, {'connected_gene': 'SEMA3F-AS1', 'score': 15.38}, {'connected_gene': 'QRICH1', 'score': 12.91}, {'connected_gene': 'FAM212A', 'score': 11.87}, {'connected_gene': 'RBM5', 'score': 11.82}, {'connected_gene': 'RNA5SP130', 'score': 11.64}, {'connected_gene': 'DAG1', 'score': 11.64}, {'connected_gene': 'TMEM115', 'score': 11.6}, {'connected_gene': 'USP4', 'score': 11.39}, {'connected_gene': 'KLHDC8B', 'score': 10.49}, {'connected_gene': 'C3orf62', 'score': 10.38}, {'connected_gene': 'LAMB2', 'score': 9.92}, {'connected_gene': 'APEH', 'score': 7.28}, {'connected_gene': 'NICN1', 'score': 6.0}, {'connected_gene': 'MST1', 'score': 3.69}, {'connected_gene': 'GC03P049421', 'score': 0.44}, {'connected_gene': 'ENSG00000283189', 'score': 0.37}]
chr3 GH03I049673 49673059 49675816 2.03 [{'connected_gene': 'APEH', 'score': 550.77}, {'connected_gene': 'FAM212A', 'score': 13.54}, {'connected_gene': 'CDHR4', 'score': 10.42}, {'connected_gene': 'SEMA3B-AS1', 'score': 6.33}, {'connected_gene': 'ENSG00000259970', 'score': 0.39}, {'connected_gene': 'GC03P049421', 'score': 0.07}]
chr3 GH03I049454 49454292 49456850 1.15 [{'connected_gene': 'APEH', 'score': 11.81}, {'connected_gene': 'FAM212A', 'score': 11.73}, {'connected_gene': 'RNA5SP130', 'score': 0.39}, {'connected_gene': 'GC03M049467', 'score': 0.39}, {'connected_gene': 'NICN1', 'score': 0.31}, {'connected_gene': 'GC03P049421', 'score': 0.29}]
chr3 GH03I049670 49670641 49672400 1.08 [{'connected_gene': 'APEH', 'score': 550.77}, {'connected_gene': 'AMT', 'score': 25.67}, {'connected_gene': 'BSN-AS1', 'score': 10.98}, {'connected_gene': 'BSN', 'score': 10.81}, {'connected_gene': 'BSN-AS2', 'score': 10.81}, {'connected_gene': 'CDHR4', 'score': 10.71}, {'connected_gene': 'UBA7', 'score': 8.58}, {'connected_gene': 'MST1', 'score': 7.83}, {'connected_gene': 'PIR32155', 'score': 0.44}, {'connected_gene': 'GC03P049421', 'score': 0.07}]
chr3 GH03I049602 49602752 49603937 0.43 [{'connected_gene': 'APEH', 'score': 8.4}, {'connected_gene': 'BSN-AS1', 'score': 0.28}, {'connected_gene': 'BSN', 'score': 0.25}, {'connected_gene': 'GC03P049421', 'score': 0.09}]
chr3 GH03I049332 49332481 49333762 0.6 [{'connected_gene': 'AMT', 'score': 19.99}, {'connected_gene': 'APEH', 'score': 5.93}, {'connected_gene': 'USP4', 'score': 0.44}, {'connected_gene': 'C3orf62', 'score': 0.22}]
chr3 GH03I049694 49694586 49695885 0.63 [{'connected_gene': 'WDR6', 'score': 42.37}, {'connected_gene': 'AMIGO3', 'score': 13.3}, {'connected_gene': 'GMPPB', 'score': 13.27}, {'connected_gene': 'APEH', 'score': 12.2}, {'connected_gene': 'BSN-AS1', 'score': 11.18}, {'connected_gene': 'BSN', 'score': 11.06}, {'connected_gene': 'AMT', 'score': 9.56}, {'connected_gene': 'C3orf18', 'score': 5.48}, {'connected_gene': 'RNF123', 'score': 0.44}, {'connected_gene': 'MST1', 'score': 0.44}, {'connected_gene': 'GC03P049421', 'score': 0.06}]
chr3 GH03I049237 49237729 49240672 1.53 [{'connected_gene': 'WDR6', 'score': 44.54}, {'connected_gene': 'AMT', 'score': 40.62}, {'connected_gene': 'IP6K2', 'score': 11.28}, {'connected_gene': 'TREX1', 'score': 10.46}, {'connected_gene': 'ZNF589', 'score': 9.98}, {'connected_gene': 'USP4', 'score': 7.75}, {'connected_gene': 'APEH', 'score': 6.58}, {'connected_gene': 'DALRD3', 'score': 6.2}, {'connected_gene': 'ENSG00000235236', 'score': 4.08}, {'connected_gene': 'RHOA', 'score': 3.35}, {'connected_gene': 'ARIH2', 'score': 2.49}, {'connected_gene': 'AMIGO3', 'score': 1.23}, {'connected_gene': 'ENSG00000270538', 'score': 0.39}, {'connected_gene': 'PIR41977', 'score': 0.28}, {'connected_gene': 'CCDC36', 'score': 0.26}]
chr3 GH03I049669 49669182 49669457 0.38 [{'connected_gene': 'BSN-AS1', 'score': 10.98}, {'connected_gene': 'BSN', 'score': 10.82}, {'connected_gene': 'BSN-AS2', 'score': 10.82}, {'connected_gene': 'CDHR4', 'score': 10.46}, {'connected_gene': 'GMPPB', 'score': 9.09}, {'connected_gene': 'AMT', 'score': 8.99}, {'connected_gene': 'APEH', 'score': 8.38}, {'connected_gene': 'PIR32155', 'score': 0.44}, {'connected_gene': 'GC03P049421', 'score': 0.07}]
chr3 GH03I049666 49666093 49666920 0.83 [{'connected_gene': 'BSN-AS1', 'score': 12.12}, {'connected_gene': 'BSN', 'score': 11.92}, {'connected_gene': 'BSN-AS2', 'score': 11.45}, {'connected_gene': 'CDHR4', 'score': 10.08}, {'connected_gene': 'AMT', 'score': 9.05}, {'connected_gene': 'PIR32155', 'score': 0.77}, {'connected_gene': 'APEH', 'score': 0.44}, {'connected_gene': 'GC03P049421', 'score': 0.07}]
chr3 GH03I049665 49665908 49666057 0.76 [{'connected_gene': 'BSN-AS1', 'score': 12.12}, {'connected_gene': 'BSN', 'score': 11.92}, {'connected_gene': 'BSN-AS2', 'score': 11.45}, {'connected_gene': 'PIR32155', 'score': 0.77}, {'connected_gene': 'APEH', 'score': 0.44}, {'connected_gene': 'GC03P049421', 'score': 0.07}]
chr3 GH03I050364 50364335 50366336 1.16 [{'connected_gene': 'ENSG00000271858', 'score': 550.77}, {'connected_gene': 'CYB561D2', 'score': 11.91}, {'connected_gene': 'APEH', 'score': 5.48}, {'connected_gene': 'ENSG00000230454', 'score': 3.94}, {'connected_gene': 'ENSG00000272104', 'score': 0.39}, {'connected_gene': 'GC03P050405', 'score': 0.28}, {'connected_gene': 'CACNA2D2', 'score': 0.12}]

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