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
ENST00000309539 [[10310901, 10312620], [10312945, 10313061], [10313384, 10313524], [10319310, 10319556], [10321672, 10321774], [10324600, 10324737]] [[10312478, 10312620], [10312945, 10313061], [10313384, 10313524], [10319310, 10319556], [10321672, 10321774], [10324600, 10324676]]
ENST00000544577 [[10312113, 10312552], [10319310, 10319556], [10321672, 10321774], [10324600, 10324737]] [[10312478, 10312552], [10319310, 10319556], [10321672, 10321774], [10324600, 10324676]]
ENST00000543993 [[10312182, 10312620], [10312945, 10313061], [10319310, 10319556], [10320176, 10320198]] [[10312614, 10312620], [10312945, 10313061], [10319310, 10319422]]
ENST00000545927 [[10312216, 10312620], [10313384, 10313524], [10319310, 10319556], [10321672, 10321774], [10324600, 10324716]] [[10312614, 10312620], [10313384, 10313524], [10319310, 10319556], [10321672, 10321774], [10324600, 10324676]]
ENST00000432556 [[10312265, 10312620], [10312945, 10313061], [10319310, 10319556], [10321672, 10321774], [10324600, 10324731]] [[10312614, 10312620], [10312945, 10313061], [10319310, 10319556], [10321672, 10321774], [10324600, 10324676]]
ENST00000536989 [[10312266, 10312620], [10312945, 10313160]] None
ENST00000539518 [[10312499, 10312620], [10312945, 10313061], [10313384, 10313524], [10319310, 10319556], [10321672, 10321781]] [[10312499, 10312620], [10312945, 10313061], [10313384, 10313524], [10319310, 10319556], [10321672, 10321691]]
ENST00000538745 [[10312617, 10312620], [10312945, 10313061], [10313384, 10313524], [10319310, 10319548], [10320176, 10320262]] [[10312617, 10312620], [10312945, 10313061], [10313384, 10313524], [10319310, 10319422]]
ENST00000339968 [[10313000, 10313061], [10313384, 10313524], [10319310, 10319556], [10319785, 10319907], [10320176, 10320198]] [[10313000, 10313061], [10313384, 10313524], [10319310, 10319422]]
ENST00000538873 [[10313465, 10313524], [10319310, 10319767]] [[10313465, 10313524], [10319310, 10319422]]
ENST00000543414 [[10313476, 10313524], [10319310, 10319556], [10321672, 10321774], [10322916, 10322986]] [[10313476, 10313524], [10319310, 10319556], [10321672, 10321691]]
NM_002543 [[10310898, 10312620], [10312945, 10313061], [10313384, 10313524], [10319310, 10319556], [10321672, 10321774], [10324600, 10324790]] [[10312478, 10312620], [10312945, 10313061], [10313384, 10313524], [10319310, 10319556], [10321672, 10321774], [10324600, 10324676]]
NM_001172633 [[10310898, 10312620], [10313384, 10313524], [10319310, 10319556], [10321672, 10321774], [10324600, 10324790]] [[10312614, 10312620], [10313384, 10313524], [10319310, 10319556], [10321672, 10321774], [10324600, 10324676]]
NM_001172632 [[10310898, 10312620], [10312945, 10313061], [10319310, 10319556], [10321672, 10321774], [10324600, 10324790]] [[10312614, 10312620], [10312945, 10313061], [10319310, 10319556], [10321672, 10321774], [10324600, 10324676]]
Promoter
Chrom Start End Description
chr12 10320190 10320205 CAGE_peak_2_at_OLR1_5end
chr12 10320256 10320267 CAGE_peak_8_at_OLR1_5end
chr12 10321754 10321774 CAGE_peak_4_at_OLR1_5end
chr12 10321791 10321810 CAGE_peak_5_at_OLR1_5end
chr12 10324717 10324742 CAGE_peak_1_at_OLR1_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr12 GH12I009792 9792509 9798774 1.56 [{'connected_gene': 'CD69', 'score': 16.51}, {'connected_gene': 'CLEC7A', 'score': 7.19}, {'connected_gene': 'LOC728715', 'score': 4.39}, {'connected_gene': 'CLEC2B', 'score': 2.38}, {'connected_gene': 'OLR1', 'score': 1.29}, {'connected_gene': 'LOC100419929', 'score': 0.34}, {'connected_gene': 'LOC105369653', 'score': 0.31}]
chr12 GH12I009756 9756259 9766298 2.69 [{'connected_gene': 'CD69', 'score': 576.83}, {'connected_gene': 'CLECL1', 'score': 22.54}, {'connected_gene': 'KLRF1', 'score': 17.17}, {'connected_gene': 'CLEC7A', 'score': 15.09}, {'connected_gene': 'OLR1', 'score': 10.55}, {'connected_gene': 'KLRB1', 'score': 8.76}, {'connected_gene': 'CLEC12A', 'score': 8.02}, {'connected_gene': 'ENSG00000213443', 'score': 6.47}, {'connected_gene': 'DDX12P', 'score': 5.72}, {'connected_gene': 'PZP', 'score': 5.15}, {'connected_gene': 'CLEC2B', 'score': 5.09}, {'connected_gene': 'KLRF2', 'score': 4.52}, {'connected_gene': 'GABARAPL1', 'score': 3.49}, {'connected_gene': 'CLEC2D', 'score': 2.99}, {'connected_gene': 'LOC105369653', 'score': 0.44}]
chr12 GH12I010131 10131149 10131477 0.4 [{'connected_gene': 'CLEC7A', 'score': 581.17}, {'connected_gene': 'OLR1', 'score': 11.67}, {'connected_gene': 'CLEC12A', 'score': 10.72}, {'connected_gene': 'CLEC2B', 'score': 5.47}, {'connected_gene': 'GABARAPL1', 'score': 3.05}, {'connected_gene': 'CD69', 'score': 2.18}, {'connected_gene': 'LOC105369655', 'score': 0.37}, {'connected_gene': 'TMEM52B', 'score': 0.28}]
chr12 GH12I010127 10127401 10130871 2.3 [{'connected_gene': 'CLEC7A', 'score': 595.35}, {'connected_gene': 'OLR1', 'score': 11.29}, {'connected_gene': 'CLEC12A', 'score': 10.27}, {'connected_gene': 'CLEC2B', 'score': 9.92}, {'connected_gene': 'GABARAPL1', 'score': 4.91}, {'connected_gene': 'CD69', 'score': 1.41}, {'connected_gene': 'LOC105369655', 'score': 0.39}]
chr12 GH12I010033 10033533 10034938 0.49 [{'connected_gene': 'CLEC7A', 'score': 12.71}, {'connected_gene': 'CLEC12B', 'score': 10.97}, {'connected_gene': 'TMEM52B', 'score': 10.34}, {'connected_gene': 'CLEC12A', 'score': 10.19}, {'connected_gene': 'CLEC12A-AS1', 'score': 10.19}, {'connected_gene': 'OLR1', 'score': 10.14}, {'connected_gene': 'GABARAPL1', 'score': 9.3}, {'connected_gene': 'ENSG00000255958', 'score': 9.3}, {'connected_gene': 'CLEC9A', 'score': 0.77}, {'connected_gene': 'LOC100421202', 'score': 0.44}]
chr12 GH12I010119 10119029 10122000 0.73 [{'connected_gene': 'CLEC7A', 'score': 25.98}, {'connected_gene': 'CLEC12A', 'score': 7.83}, {'connected_gene': 'CLEC2B', 'score': 7.64}, {'connected_gene': 'CLEC9A', 'score': 5.62}, {'connected_gene': 'OLR1', 'score': 3.85}, {'connected_gene': 'GABARAPL1', 'score': 3.6}, {'connected_gene': 'KLRD1', 'score': 1.37}, {'connected_gene': 'CLEC1B', 'score': 1.32}, {'connected_gene': 'LOC105369655', 'score': 0.44}]
chr12 GH12I010066 10066125 10070288 1.24 [{'connected_gene': 'CLEC7A', 'score': 24.97}, {'connected_gene': 'LINC02470', 'score': 6.13}, {'connected_gene': 'CLEC2B', 'score': 5.12}, {'connected_gene': 'CLEC12A', 'score': 1.31}, {'connected_gene': 'OLR1', 'score': 1.25}, {'connected_gene': 'RN7SKP161', 'score': 0.37}, {'connected_gene': 'ENSG00000256626', 'score': 0.31}, {'connected_gene': 'CLEC1A', 'score': 0.26}]
chr12 GH12I010204 10204790 10206378 0.56 [{'connected_gene': 'OLR1', 'score': 12.39}, {'connected_gene': 'KLRD1', 'score': 4.97}, {'connected_gene': 'TAS2R50', 'score': 4.41}, {'connected_gene': 'GABARAPL1', 'score': 0.44}]
chr12 GH12I010174 10174859 10177278 0.43 [{'connected_gene': 'OLR1', 'score': 550.77}, {'connected_gene': 'ENSG00000255958', 'score': 11.77}, {'connected_gene': 'GABARAPL1', 'score': 11.77}, {'connected_gene': 'TMEM52B', 'score': 0.44}]
chr12 GH12I009978 9978026 9978290 0.54 [{'connected_gene': 'OLR1', 'score': 26.14}, {'connected_gene': 'CLEC12A', 'score': 20.06}, {'connected_gene': 'CLEC7A', 'score': 12.69}, {'connected_gene': 'GABARAPL1', 'score': 2.4}, {'connected_gene': 'CLEC2B', 'score': 2.13}, {'connected_gene': 'CD69', 'score': 1.73}, {'connected_gene': 'CLEC12A-AS1', 'score': 0.34}, {'connected_gene': 'CLEC12B', 'score': 0.29}]
chr12 GH12I010183 10183727 10187400 0.92 [{'connected_gene': 'OLR1', 'score': 36.26}, {'connected_gene': 'CLEC12A', 'score': 10.74}, {'connected_gene': 'CLEC7A', 'score': 5.43}, {'connected_gene': 'GABARAPL1', 'score': 2.02}, {'connected_gene': 'TMEM52B', 'score': 0.37}]
chr12 GH12I010168 10168915 10172413 1.34 [{'connected_gene': 'OLR1', 'score': 558.18}, {'connected_gene': 'TMEM52B', 'score': 550.77}, {'connected_gene': 'ENSG00000255958', 'score': 10.65}, {'connected_gene': 'GABARAPL1', 'score': 10.65}, {'connected_gene': 'CLEC7A', 'score': 10.04}]
chr12 GH12I010190 10190800 10192637 0.92 [{'connected_gene': 'OLR1', 'score': 23.45}, {'connected_gene': 'TMEM52B', 'score': 0.34}, {'connected_gene': 'GABARAPL1', 'score': 0.34}]
chr12 GH12I010182 10182050 10183400 0.79 [{'connected_gene': 'OLR1', 'score': 23.52}, {'connected_gene': 'TMEM52B', 'score': 7.88}, {'connected_gene': 'GABARAPL1', 'score': 0.31}]
chr12 GH12I010030 10030231 10032906 1.47 [{'connected_gene': 'CLEC9A', 'score': 550.77}, {'connected_gene': 'LOC102724020', 'score': 550.77}, {'connected_gene': 'CLEC7A', 'score': 12.71}, {'connected_gene': 'CLEC12B', 'score': 10.99}, {'connected_gene': 'TMEM52B', 'score': 10.21}, {'connected_gene': 'OLR1', 'score': 10.14}, {'connected_gene': 'CLEC1A', 'score': 6.81}, {'connected_gene': 'STYK1', 'score': 6.44}, {'connected_gene': 'LOC100421202', 'score': 0.44}]
chr12 GH12I010166 10166601 10168321 0.84 [{'connected_gene': 'GABARAPL1', 'score': 10.85}, {'connected_gene': 'ENSG00000255958', 'score': 10.83}, {'connected_gene': 'CLEC7A', 'score': 10.78}, {'connected_gene': 'OLR1', 'score': 10.17}, {'connected_gene': 'TMEM52B', 'score': 0.77}]
chr12 GH12I010196 10196322 10196471 0.43 [{'connected_gene': 'GABARAPL1', 'score': 0.37}, {'connected_gene': 'OLR1', 'score': 0.34}]
chr12 GH12I010207 10207282 10207424 0.2 [{'connected_gene': 'GABARAPL1', 'score': 0.44}, {'connected_gene': 'OLR1', 'score': 0.29}]
chr12 GH12I009720 9720669 9733754 2.06 [{'connected_gene': 'CLECL1', 'score': 588.58}, {'connected_gene': 'KLRB1', 'score': 13.39}, {'connected_gene': 'ENSG00000213443', 'score': 12.73}, {'connected_gene': 'ENSG00000257027', 'score': 10.26}, {'connected_gene': 'OLR1', 'score': 9.4}, {'connected_gene': 'CLEC12A', 'score': 8.41}, {'connected_gene': 'CD69', 'score': 6.52}, {'connected_gene': 'CLEC7A', 'score': 6.28}, {'connected_gene': 'LINC02367', 'score': 5.41}, {'connected_gene': 'LOC374443', 'score': 5.01}, {'connected_gene': 'LOC642846', 'score': 4.61}, {'connected_gene': 'CLEC2D', 'score': 3.69}, {'connected_gene': 'CLEC2B', 'score': 1.98}, {'connected_gene': 'CLEC2A', 'score': 1.71}, {'connected_gene': 'LINC02390', 'score': 0.34}, {'connected_gene': 'GC12P009754', 'score': 0.29}]
chr12 GH12I009964 9964801 9965317 0.42 [{'connected_gene': 'CLEC12A', 'score': 97.46}, {'connected_gene': 'CLEC7A', 'score': 5.04}, {'connected_gene': 'CLEC2B', 'score': 4.17}, {'connected_gene': 'OLR1', 'score': 1.21}, {'connected_gene': 'CLEC12A-AS1', 'score': 0.39}, {'connected_gene': 'CLEC12B', 'score': 0.26}]
chr12 GH12I009960 9960475 9960904 0.66 [{'connected_gene': 'CLEC12A', 'score': 86.3}, {'connected_gene': 'OLR1', 'score': 23.07}, {'connected_gene': 'CLEC7A', 'score': 8.93}, {'connected_gene': 'GABARAPL1', 'score': 1.54}, {'connected_gene': 'CLEC2B', 'score': 1.46}, {'connected_gene': 'CD69', 'score': 1.35}, {'connected_gene': 'CLEC12A-AS1', 'score': 0.44}, {'connected_gene': 'CLEC12B', 'score': 0.25}]
chr12 GH12I009970 9970401 9974600 1.64 [{'connected_gene': 'CLEC12A', 'score': 649.14}, {'connected_gene': 'OLR1', 'score': 35.7}, {'connected_gene': 'CLEC12B', 'score': 33.77}, {'connected_gene': 'CLEC7A', 'score': 12.11}, {'connected_gene': 'CLEC1B', 'score': 4.66}, {'connected_gene': 'GABARAPL1', 'score': 1.94}, {'connected_gene': 'CLEC2B', 'score': 1.6}, {'connected_gene': 'CLEC12A-AS1', 'score': 0.37}]
chr12 GH12I010178 10178850 10180569 1.09 [{'connected_gene': 'TMEM52B', 'score': 550.44}, {'connected_gene': 'OLR1', 'score': 0.77}, {'connected_gene': 'GABARAPL1', 'score': 0.29}]
chr12 GH12I010189 10189642 10190228 0.2 [{'connected_gene': 'TMEM52B', 'score': 7.85}, {'connected_gene': 'DDX12P', 'score': 4.38}, {'connected_gene': 'OLR1', 'score': 0.39}, {'connected_gene': 'GABARAPL1', 'score': 0.34}]
chr12 GH12I010152 10152822 10154600 1 [{'connected_gene': 'KLRA1P', 'score': 17.41}, {'connected_gene': 'LOC642846', 'score': 14.33}, {'connected_gene': 'TAS2R20', 'score': 13.12}, {'connected_gene': 'GABARAPL1', 'score': 11.4}, {'connected_gene': 'ENSG00000255958', 'score': 11.39}, {'connected_gene': 'TAS2R50', 'score': 11.14}, {'connected_gene': 'ENSG00000256682', 'score': 10.96}, {'connected_gene': 'DDX12P', 'score': 10.84}, {'connected_gene': 'TAS2R43', 'score': 10.56}, {'connected_gene': 'TAS2R46', 'score': 10.55}, {'connected_gene': 'CLEC9A', 'score': 10.01}, {'connected_gene': 'LOC102724020', 'score': 10.01}, {'connected_gene': 'OLR1', 'score': 7.96}, {'connected_gene': 'TMEM52B', 'score': 0.37}, {'connected_gene': 'CLEC7A', 'score': 0.34}]
chr12 GH12I009942 9942601 9944797 1.25 [{'connected_gene': 'LINC02470', 'score': 583.17}, {'connected_gene': 'OLR1', 'score': 41.23}, {'connected_gene': 'CLEC12A', 'score': 29.28}, {'connected_gene': 'CLEC7A', 'score': 18.64}, {'connected_gene': 'CLEC1B', 'score': 10.52}, {'connected_gene': 'GABARAPL1', 'score': 1.47}, {'connected_gene': 'CD69', 'score': 1.32}]
chr12 GH12I009965 9964372 9964642 0.22 [{'connected_gene': 'LINC02470', 'score': 19.01}, {'connected_gene': 'CLEC12A', 'score': 3.87}, {'connected_gene': 'OLR1', 'score': 2.11}, {'connected_gene': 'CLEC12A-AS1', 'score': 0.39}, {'connected_gene': 'CLEC12B', 'score': 0.26}]
chr12 GH12I010165 10165801 10166000 0.2 [{'connected_gene': 'ENSG00000255958', 'score': 11.27}, {'connected_gene': 'GABARAPL1', 'score': 11.27}, {'connected_gene': 'CLEC7A', 'score': 11.04}, {'connected_gene': 'OLR1', 'score': 7.25}, {'connected_gene': 'TMEM52B', 'score': 0.77}]
chr12 GH12I010160 10160801 10161200 0.2 [{'connected_gene': 'ENSG00000255958', 'score': 11.16}, {'connected_gene': 'GABARAPL1', 'score': 11.16}, {'connected_gene': 'TMEM52B', 'score': 5.21}, {'connected_gene': 'OLR1', 'score': 0.37}, {'connected_gene': 'CLEC7A', 'score': 0.29}]

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