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
ENST00000372836 [[42896937, 42897459], [42902212, 42902336], [42903311, 42903408], [42905454, 42905577], [42905827, 42905945], [42906305, 42907025]] [[42897308, 42897459], [42902212, 42902336], [42903311, 42903408], [42905454, 42905577], [42905827, 42905945], [42906305, 42906529]]
ENST00000394142 [[42896981, 42897459], [42903311, 42903408], [42905454, 42905577], [42905827, 42905945], [42906305, 42907007]] [[42897308, 42897459], [42903311, 42903325]]
NR_134881 [[42895739, 42897459], [42897584, 42897649], [42902212, 42902336], [42903149, 42903211], [42903311, 42903408], [42905454, 42905577], [42905827, 42905945], [42906305, 42907025]] None
NR_134886 [[42896867, 42897459], [42903311, 42904103]] None
NM_001318848 [[42896867, 42897459], [42902212, 42902336], [42903311, 42904103]] [[42897308, 42897459], [42902212, 42902336], [42903311, 42903492]]
NM_001318847 [[42896867, 42897459], [42902212, 42902336], [42903149, 42903211], [42903311, 42904103]] [[42897308, 42897459], [42902212, 42902336], [42903149, 42903211], [42903311, 42903325]]
NR_134885 [[42896867, 42897459], [42902115, 42902336], [42903311, 42904103]] None
NR_134888 [[42896867, 42897459], [42903311, 42903408], [42905827, 42905945], [42906305, 42907025]] None
NM_001318845 [[42896867, 42897459], [42903311, 42903408], [42905454, 42905577], [42905827, 42905945], [42906305, 42907025]] [[42897451, 42897459], [42903311, 42903408], [42905454, 42905577], [42905827, 42905945], [42906305, 42906529]]
NR_134882 [[42896867, 42897459], [42903149, 42903211], [42903311, 42903408], [42905454, 42905577], [42905827, 42905945], [42906305, 42907025]] None
NM_006586 [[42896867, 42897459], [42902212, 42902336], [42903311, 42903408], [42905454, 42905577], [42905827, 42905945], [42906305, 42907025]] [[42897308, 42897459], [42902212, 42902336], [42903311, 42903408], [42905454, 42905577], [42905827, 42905945], [42906305, 42906529]]
NR_134880 [[42896867, 42897459], [42902212, 42902336], [42903149, 42903211], [42903311, 42903408], [42905454, 42905577], [42905827, 42905945], [42906305, 42907025]] None
NM_001318842 [[42896867, 42897459], [42902212, 42902336], [42903149, 42903211], [42903274, 42903408], [42905454, 42905577], [42905827, 42905945], [42906305, 42907025]] [[42897308, 42897459], [42902212, 42902336], [42903149, 42903211], [42903274, 42903408], [42905454, 42905577], [42905827, 42905945], [42906305, 42906529]]
Promoter
Chrom Start End Description
chr6 42896865 42896939 CAGE_peak_3_at_CNPY3_5end
chr6 42897132 42897149 CAGE_peak_4_at_CNPY3_5end
chr6 42897180 42897256 CAGE_peak_1_at_CNPY3_5end
chr6 42897260 42897305 CAGE_peak_2_at_CNPY3_5end
chr6 42897306 42897321 CAGE_peak_5_at_CNPY3_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr6 GH06I043119 43119030 43127749 1.18 [{'connected_gene': 'CUL7', 'score': 28.32}, {'connected_gene': 'PTK7', 'score': 11.9}, {'connected_gene': 'KLC4', 'score': 11.69}, {'connected_gene': 'RN7SL403P', 'score': 11.38}, {'connected_gene': 'PPP2R5D', 'score': 10.99}, {'connected_gene': 'ENSG00000231113', 'score': 10.88}, {'connected_gene': 'CNPY3', 'score': 10.88}, {'connected_gene': 'DNPH1', 'score': 10.53}, {'connected_gene': 'MEA1', 'score': 10.48}, {'connected_gene': 'KLHDC3', 'score': 10.48}, {'connected_gene': 'RPL7L1', 'score': 10.02}, {'connected_gene': 'PEX6', 'score': 4.93}, {'connected_gene': 'PIR51341', 'score': 0.28}, {'connected_gene': 'SRF', 'score': 0.25}]
chr6 GH06I042769 42769930 42772897 1.53 [{'connected_gene': 'TBCC', 'score': 22.04}, {'connected_gene': 'CUL7', 'score': 11.86}, {'connected_gene': 'RPL7L1', 'score': 11.13}, {'connected_gene': 'CUL9', 'score': 10.91}, {'connected_gene': 'ABCC10', 'score': 10.37}, {'connected_gene': 'TRERF1', 'score': 9.15}, {'connected_gene': 'C6orf226', 'score': 6.24}, {'connected_gene': 'PRPH2', 'score': 5.91}, {'connected_gene': 'BICRAL', 'score': 4.95}, {'connected_gene': 'GNMT', 'score': 4.72}, {'connected_gene': 'UBR2', 'score': 3.23}, {'connected_gene': 'CNPY3', 'score': 1.61}, {'connected_gene': 'LOC401261', 'score': 0.39}, {'connected_gene': 'PIR49302', 'score': 0.34}]
chr6 GH06I042520 42520265 42521657 1.23 [{'connected_gene': 'PRPH2', 'score': 4.59}, {'connected_gene': 'CNPY3', 'score': 1.21}, {'connected_gene': 'GC06P042499', 'score': 0.34}, {'connected_gene': 'UBR2', 'score': 0.26}]
chr6 GH06I043129 43129103 43129252 0.4 [{'connected_gene': 'PTK7', 'score': 11.88}, {'connected_gene': 'KLC4', 'score': 11.68}, {'connected_gene': 'CUL7', 'score': 11.4}, {'connected_gene': 'RN7SL403P', 'score': 11.38}, {'connected_gene': 'PPP2R5D', 'score': 10.98}, {'connected_gene': 'ENSG00000231113', 'score': 10.88}, {'connected_gene': 'CNPY3', 'score': 10.87}, {'connected_gene': 'MEA1', 'score': 10.47}, {'connected_gene': 'KLHDC3', 'score': 10.46}, {'connected_gene': 'RPL7L1', 'score': 10.02}, {'connected_gene': 'SRF', 'score': 0.26}, {'connected_gene': 'PIR51341', 'score': 0.26}]
chr6 GH06I043127 43127903 43128052 0.31 [{'connected_gene': 'PTK7', 'score': 11.88}, {'connected_gene': 'KLC4', 'score': 11.68}, {'connected_gene': 'CUL7', 'score': 11.41}, {'connected_gene': 'RN7SL403P', 'score': 11.38}, {'connected_gene': 'PPP2R5D', 'score': 10.98}, {'connected_gene': 'ENSG00000231113', 'score': 10.88}, {'connected_gene': 'CNPY3', 'score': 10.87}, {'connected_gene': 'MEA1', 'score': 10.47}, {'connected_gene': 'KLHDC3', 'score': 10.47}, {'connected_gene': 'RPL7L1', 'score': 10.02}, {'connected_gene': 'SRF', 'score': 0.26}, {'connected_gene': 'PIR51341', 'score': 0.26}]
chr6 GH06I042799 42799264 42801462 0.78 [{'connected_gene': 'PEX6', 'score': 21.82}, {'connected_gene': 'RPL7L1', 'score': 11.24}, {'connected_gene': 'RNU6-890P', 'score': 11.21}, {'connected_gene': 'CNPY3', 'score': 10.57}, {'connected_gene': 'ENSG00000231113', 'score': 10.55}, {'connected_gene': 'KLC4', 'score': 9.89}, {'connected_gene': 'CUL7', 'score': 9.89}, {'connected_gene': 'RN7SL403P', 'score': 9.89}, {'connected_gene': 'PPP2R5D', 'score': 9.52}, {'connected_gene': 'MEA1', 'score': 9.51}, {'connected_gene': 'KLHDC3', 'score': 9.51}, {'connected_gene': 'DLK2', 'score': 9.5}, {'connected_gene': 'BICRAL', 'score': 5.54}, {'connected_gene': 'LOC401261', 'score': 0.37}]
chr6 GH06I042898 42898801 42899201 0.9 [{'connected_gene': 'RPL7L1', 'score': 22.13}, {'connected_gene': 'CNPY3', 'score': 11.35}, {'connected_gene': 'ENSG00000231113', 'score': 11.32}, {'connected_gene': 'PPP2R5D', 'score': 11.23}, {'connected_gene': 'PEX6', 'score': 10.87}, {'connected_gene': 'CUL7', 'score': 10.58}, {'connected_gene': 'MEA1', 'score': 10.46}, {'connected_gene': 'KLHDC3', 'score': 10.46}, {'connected_gene': 'RN7SL403P', 'score': 10.39}, {'connected_gene': 'KLC4', 'score': 10.38}, {'connected_gene': 'RNU6-890P', 'score': 10.28}, {'connected_gene': 'LOC105375063', 'score': 0.77}, {'connected_gene': 'GC06P042892', 'score': 0.44}]
chr6 GH06I042938 42938977 42940380 1.12 [{'connected_gene': 'GNMT', 'score': 557.52}, {'connected_gene': 'ENSG00000231113', 'score': 550.77}, {'connected_gene': 'PEX6', 'score': 22.47}, {'connected_gene': 'CNPY3', 'score': 0.39}]
chr6 GH06I042935 42935423 42935572 0.82 [{'connected_gene': 'GNMT', 'score': 0.77}, {'connected_gene': 'PIR33684', 'score': 0.44}, {'connected_gene': 'CNPY3', 'score': 0.44}, {'connected_gene': 'GC06M042930', 'score': 0.44}]
chr6 GH06I042934 42934151 42934709 0.2 [{'connected_gene': 'GNMT', 'score': 0.77}, {'connected_gene': 'PIR33684', 'score': 0.44}, {'connected_gene': 'CNPY3', 'score': 0.44}, {'connected_gene': 'GC06M042930', 'score': 0.44}]
chr6 GH06I042568 42568743 42570599 1.35 [{'connected_gene': 'UBR2', 'score': 24.9}, {'connected_gene': 'PRPH2', 'score': 15.21}, {'connected_gene': 'ZNF318', 'score': 13.51}, {'connected_gene': 'CUL7', 'score': 12.12}, {'connected_gene': 'ABCC10', 'score': 11.22}, {'connected_gene': 'RPL24P4', 'score': 10.97}, {'connected_gene': 'RNU6-890P', 'score': 10.61}, {'connected_gene': 'MED20', 'score': 10.28}, {'connected_gene': 'RPS2P29', 'score': 10.21}, {'connected_gene': 'BICRAL', 'score': 10.12}, {'connected_gene': 'POLR1C', 'score': 10.1}, {'connected_gene': 'RPL34P14', 'score': 10.0}, {'connected_gene': 'CNPY3', 'score': 6.28}, {'connected_gene': 'TRERF1', 'score': 4.63}, {'connected_gene': 'GC06P042664', 'score': 0.16}]
chr6 GH06I042618 42618803 42618972 0.2 [{'connected_gene': 'RNU6-890P', 'score': 11.9}, {'connected_gene': 'RPL7L1', 'score': 10.76}, {'connected_gene': 'CNPY3', 'score': 10.0}, {'connected_gene': 'ENSG00000231113', 'score': 10.0}, {'connected_gene': 'PEX6', 'score': 9.76}, {'connected_gene': 'KLC4', 'score': 9.55}, {'connected_gene': 'RN7SL403P', 'score': 9.55}, {'connected_gene': 'CUL7', 'score': 9.55}, {'connected_gene': 'GC06P042664', 'score': 0.25}, {'connected_gene': 'UBR2', 'score': 0.23}]
chr6 GH06I042901 42901401 42904700 1.37 [{'connected_gene': 'LOC105375063', 'score': 550.77}, {'connected_gene': 'RPL7L1', 'score': 33.13}, {'connected_gene': 'PEX6', 'score': 15.2}, {'connected_gene': 'CNPY3', 'score': 12.31}, {'connected_gene': 'ENSG00000231113', 'score': 12.28}, {'connected_gene': 'PPP2R5D', 'score': 11.92}, {'connected_gene': 'KLC4', 'score': 11.2}, {'connected_gene': 'RN7SL403P', 'score': 11.19}, {'connected_gene': 'CUL7', 'score': 11.18}, {'connected_gene': 'MEA1', 'score': 10.78}, {'connected_gene': 'KLHDC3', 'score': 10.78}, {'connected_gene': 'RNU6-890P', 'score': 10.27}, {'connected_gene': 'PTCRA', 'score': 0.39}]
chr6 GH06I042893 42893402 42894400 1.08 [{'connected_gene': 'GC06P042892', 'score': 550.77}, {'connected_gene': 'RPL7L1', 'score': 24.51}, {'connected_gene': 'CNPY3', 'score': 11.3}, {'connected_gene': 'ENSG00000231113', 'score': 11.27}, {'connected_gene': 'RNU6-890P', 'score': 10.97}, {'connected_gene': 'PPP2R5D', 'score': 10.91}, {'connected_gene': 'MEA1', 'score': 10.88}, {'connected_gene': 'KLHDC3', 'score': 10.88}, {'connected_gene': 'PEX6', 'score': 10.4}, {'connected_gene': 'KLC4', 'score': 10.36}, {'connected_gene': 'RN7SL403P', 'score': 10.36}, {'connected_gene': 'CUL7', 'score': 10.34}, {'connected_gene': 'LOC105375063', 'score': 0.44}]
chr6 GH06I042928 42927970 42933607 2.32 [{'connected_gene': 'GC06M042930', 'score': 550.77}, {'connected_gene': 'PIR33684', 'score': 550.77}, {'connected_gene': 'CNPY3', 'score': 550.77}, {'connected_gene': 'PEX6', 'score': 75.59}, {'connected_gene': 'ZNF318', 'score': 63.02}, {'connected_gene': 'POLH', 'score': 62.12}, {'connected_gene': 'GTPBP2', 'score': 42.88}, {'connected_gene': 'XPO5', 'score': 35.39}, {'connected_gene': 'RRP36', 'score': 34.37}, {'connected_gene': 'CUL7', 'score': 30.93}, {'connected_gene': 'ABCC10', 'score': 27.35}, {'connected_gene': 'RPS2P29', 'score': 23.38}, {'connected_gene': 'UBR2', 'score': 16.2}, {'connected_gene': 'PPP2R5D', 'score': 15.43}, {'connected_gene': 'POLR1C', 'score': 13.45}, {'connected_gene': 'RPL24P4', 'score': 12.16}, {'connected_gene': 'TAF8', 'score': 11.79}, {'connected_gene': 'BICRAL', 'score': 11.49}, {'connected_gene': 'RPL34P14', 'score': 11.06}, {'connected_gene': 'KLHDC3', 'score': 10.8}, {'connected_gene': 'MEA1', 'score': 10.8}, {'connected_gene': 'KLC4', 'score': 10.75}, {'connected_gene': 'RN7SL403P', 'score': 10.5}, {'connected_gene': 'ENSG00000271754', 'score': 10.49}, {'connected_gene': 'DNPH1', 'score': 10.46}, {'connected_gene': 'RPL7L1', 'score': 10.06}, {'connected_gene': 'CUL9', 'score': 9.86}, {'connected_gene': 'DLK2', 'score': 9.2}, {'connected_gene': 'GNMT', 'score': 0.44}]
chr6 GH06I042927 42927190 42927791 0.2 [{'connected_gene': 'PIR33684', 'score': 550.77}, {'connected_gene': 'GC06P042927', 'score': 550.77}, {'connected_gene': 'CNPY3', 'score': 550.77}, {'connected_gene': 'GC06M042930', 'score': 550.77}, {'connected_gene': 'RPL24P4', 'score': 12.16}, {'connected_gene': 'PEX6', 'score': 11.29}, {'connected_gene': 'PPP2R5D', 'score': 11.14}, {'connected_gene': 'MEA1', 'score': 10.8}, {'connected_gene': 'KLHDC3', 'score': 10.8}, {'connected_gene': 'KLC4', 'score': 10.74}, {'connected_gene': 'CUL7', 'score': 10.56}, {'connected_gene': 'RN7SL403P', 'score': 10.5}, {'connected_gene': 'DNPH1', 'score': 10.46}, {'connected_gene': 'RPL7L1', 'score': 10.07}, {'connected_gene': 'DLK2', 'score': 9.2}]

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