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
ENST00000355690 [[10103914, 10103955], [10124175, 10124286], [10131564, 10131663], [10131934, 10132123], [10133180, 10133332], [10134618, 10134728], [10137468, 10138194]] [[10103945, 10103955], [10124175, 10124286], [10131564, 10131663], [10131934, 10132123], [10133180, 10133332], [10134618, 10134728], [10137468, 10137625]]
ENST00000396507 [[10124013, 10124068], [10124175, 10124286], [10131564, 10131663], [10131934, 10132123], [10133180, 10133296]] [[10124195, 10124286], [10131564, 10131663], [10131934, 10132123], [10133180, 10133296]]
ENST00000304361 [[10124013, 10124286], [10131564, 10131663], [10131934, 10132123], [10133180, 10133332], [10134618, 10134728], [10137468, 10138194]] [[10124195, 10124286], [10131564, 10131663], [10131934, 10132123], [10133180, 10133332], [10134618, 10134728], [10137468, 10137625]]
ENST00000434319 [[10124033, 10124286], [10131564, 10131663], [10131934, 10132123], [10133180, 10133332], [10134618, 10134728], [10136128, 10136840]] [[10124195, 10124286], [10131564, 10131663], [10131934, 10132123], [10133180, 10133332], [10134618, 10134728], [10136128, 10136129]]
ENST00000449959 [[10124103, 10124286], [10131564, 10132123], [10133180, 10133332], [10134618, 10134728], [10147616, 10148293]] None
ENST00000350667 [[10124195, 10124286], [10131934, 10132123], [10133180, 10133332], [10134618, 10134728], [10137468, 10137625]] [[10124195, 10124286], [10131934, 10132123], [10133180, 10133332], [10134618, 10134728], [10137468, 10137625]]
ENST00000543839 [[10124195, 10124286], [10131564, 10132123], [10133180, 10133332], [10134618, 10134728], [10137468, 10137625]] None
NM_001207010 [[10103914, 10103955], [10124175, 10124286], [10131564, 10131663], [10131934, 10132123], [10133180, 10133332], [10134618, 10134728], [10137468, 10138194]] [[10103945, 10103955], [10124175, 10124286], [10131564, 10131663], [10131934, 10132123], [10133180, 10133332], [10134618, 10134728], [10137468, 10137625]]
NM_001300730 [[10124007, 10124286], [10131564, 10131663], [10131934, 10132123], [10133180, 10133332], [10134618, 10134728], [10136128, 10136840]] [[10124195, 10124286], [10131564, 10131663], [10131934, 10132123], [10133180, 10133332], [10134618, 10134728], [10136128, 10136129]]
NM_201623 [[10124007, 10124286], [10131934, 10132123], [10133180, 10133332], [10134618, 10134728], [10137468, 10138194]] [[10124195, 10124286], [10131934, 10132123], [10133180, 10133332], [10134618, 10134728], [10137468, 10137625]]
NM_138337 [[10124007, 10124286], [10131564, 10131663], [10131934, 10132123], [10133180, 10133332], [10134618, 10134728], [10137468, 10138194]] [[10124195, 10124286], [10131564, 10131663], [10131934, 10132123], [10133180, 10133332], [10134618, 10134728], [10137468, 10137625]]
Promoter
Chrom Start End Description
chr12 10103859 10103869 CAGE_peak_4_at_CLEC12A_5end
chr12 10103893 10103900 CAGE_peak_5_at_CLEC12A_5end
chr12 10124001 10124023 CAGE_peak_1_at_CLEC12A_5end
chr12 10124071 10124082 CAGE_peak_3_at_CLEC12A_5end
chr12 10124110 10124121 CAGE_peak_2_at_CLEC12A_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
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 GH12I010035 10035859 10036879 0.2 [{'connected_gene': 'CLEC7A', 'score': 12.28}, {'connected_gene': 'CLEC12A-AS1', 'score': 10.09}, {'connected_gene': 'CLEC12A', 'score': 10.08}, {'connected_gene': 'ENSG00000255958', 'score': 9.38}, {'connected_gene': 'GABARAPL1', 'score': 9.38}, {'connected_gene': 'LOC100421202', 'score': 0.77}, {'connected_gene': 'CLEC9A', 'score': 0.44}]
chr12 GH12I010040 10040601 10045158 0.31 [{'connected_gene': 'CLEC7A', 'score': 12.38}, {'connected_gene': 'CLEC12A-AS1', 'score': 12.36}, {'connected_gene': 'CLEC12A', 'score': 12.35}, {'connected_gene': 'TMEM52B', 'score': 10.99}, {'connected_gene': 'GABARAPL1', 'score': 10.4}, {'connected_gene': 'ENSG00000255958', 'score': 10.39}, {'connected_gene': 'CLEC1B', 'score': 9.98}, {'connected_gene': 'LINC02470', 'score': 6.86}, {'connected_gene': 'LOC100421202', 'score': 0.77}, {'connected_gene': 'ENSG00000256626', 'score': 0.77}, {'connected_gene': 'CLEC9A', 'score': 0.39}, {'connected_gene': 'RN7SKP161', 'score': 0.26}]
chr12 GH12I010027 10027201 10028400 0.63 [{'connected_gene': 'CLEC7A', 'score': 11.63}, {'connected_gene': 'CLEC12A-AS1', 'score': 10.61}, {'connected_gene': 'CLEC12A', 'score': 10.6}, {'connected_gene': 'TMEM52B', 'score': 9.89}, {'connected_gene': 'LINC02470', 'score': 6.76}, {'connected_gene': 'LOC728715', 'score': 4.42}, {'connected_gene': 'LOC102724020', 'score': 0.77}, {'connected_gene': 'GC12P010023', 'score': 0.77}]
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 GH12I009991 9991801 9992600 0.4 [{'connected_gene': 'CLEC7A', 'score': 11.07}, {'connected_gene': 'CLEC9A', 'score': 10.47}, {'connected_gene': 'LOC102724020', 'score': 10.47}, {'connected_gene': 'CLEC12B', 'score': 0.37}, {'connected_gene': 'CLEC1B', 'score': 0.34}, {'connected_gene': 'CLEC12A-AS1', 'score': 0.28}, {'connected_gene': 'CLEC12A', 'score': 0.26}]
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 GH12I009829 9829897 9830209 0.69 [{'connected_gene': 'KLRF1', 'score': 34.83}, {'connected_gene': 'KLRD1', 'score': 26.67}, {'connected_gene': 'MAGOHB', 'score': 13.08}, {'connected_gene': 'TAS2R10', 'score': 11.48}, {'connected_gene': 'CLEC12A', 'score': 10.71}, {'connected_gene': 'CLEC12A-AS1', 'score': 10.71}, {'connected_gene': 'KLRB1', 'score': 8.76}, {'connected_gene': 'CD69', 'score': 4.6}, {'connected_gene': 'ENSG00000255882', 'score': 0.28}]
chr12 GH12I010000 9999211 9999270 0.68 [{'connected_gene': 'CLEC1B', 'score': 550.39}, {'connected_gene': 'CLEC12A', 'score': 11.62}, {'connected_gene': 'CLEC12A-AS1', 'score': 11.62}, {'connected_gene': 'CLEC9A', 'score': 10.33}, {'connected_gene': 'LOC102724020', 'score': 10.33}, {'connected_gene': 'CLEC12B', 'score': 0.44}]
chr12 GH12I009999 9999341 9999400 0.5 [{'connected_gene': 'CLEC1B', 'score': 550.39}, {'connected_gene': 'CLEC12A', 'score': 11.62}, {'connected_gene': 'CLEC12A-AS1', 'score': 11.62}, {'connected_gene': 'CLEC9A', 'score': 10.33}, {'connected_gene': 'LOC102724020', 'score': 10.33}, {'connected_gene': 'CLEC12B', '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 GH12I009966 9966401 9966600 0.2 [{'connected_gene': 'CLEC12A-AS1', 'score': 0.39}, {'connected_gene': 'CLEC12A', 'score': 0.37}, {'connected_gene': 'CLEC12B', 'score': 0.26}]
chr12 GH12I009947 9947802 9947911 0.77 [{'connected_gene': 'CLEC12B', 'score': 11.38}, {'connected_gene': 'CLEC1B', 'score': 10.76}, {'connected_gene': 'CLEC7A', 'score': 10.56}, {'connected_gene': 'CLEC9A', 'score': 10.05}, {'connected_gene': 'LOC102724020', 'score': 10.05}, {'connected_gene': 'LINC02470', 'score': 0.77}, {'connected_gene': 'CLEC12A', 'score': 0.77}]
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 GH12I010016 10016482 10018980 1.02 [{'connected_gene': 'CLEC12A', 'score': 31.42}, {'connected_gene': 'CLEC12A-AS1', 'score': 11.66}, {'connected_gene': 'CLEC7A', 'score': 11.0}, {'connected_gene': 'KLRF1', 'score': 10.35}, {'connected_gene': 'LINC02470', 'score': 4.99}, {'connected_gene': 'CLEC1B', 'score': 0.77}, {'connected_gene': 'GC12P010023', 'score': 0.44}, {'connected_gene': 'CLEC12B', 'score': 0.44}, {'connected_gene': 'LOC102724020', 'score': 0.39}]
chr12 GH12I009967 9967801 9968000 0.4 [{'connected_gene': 'CLEC12A', 'score': 22.45}, {'connected_gene': 'CLEC12A-AS1', 'score': 0.39}, {'connected_gene': 'CLEC12B', 'score': 0.26}]
chr12 GH12I009975 9975001 9975200 0.2 [{'connected_gene': 'CLEC12A', 'score': 0.34}, {'connected_gene': 'CLEC12A-AS1', 'score': 0.34}, {'connected_gene': 'CLEC12B', 'score': 0.29}]
chr12 GH12I009968 9968406 9969631 0.31 [{'connected_gene': 'CLEC12A', 'score': 23.0}, {'connected_gene': 'CLEC12A-AS1', 'score': 0.37}, {'connected_gene': 'CLEC12B', 'score': 0.26}]
chr12 GH12I009950 9950949 9951831 1.21 [{'connected_gene': 'CLEC12A', 'score': 592.1}, {'connected_gene': 'GC12P009952', 'score': 550.77}, {'connected_gene': 'CLEC12A-AS1', 'score': 550.77}]
chr12 GH12I009948 9948401 9949497 1.09 [{'connected_gene': 'CLEC12A', 'score': 17.58}, {'connected_gene': 'CLEC12B', 'score': 11.38}, {'connected_gene': 'CLEC1B', 'score': 10.77}, {'connected_gene': 'CLEC7A', 'score': 10.56}, {'connected_gene': 'CLEC9A', 'score': 10.05}, {'connected_gene': 'LOC102724020', 'score': 10.05}, {'connected_gene': 'CLEC12A-AS1', 'score': 0.77}, {'connected_gene': 'LINC02470', 'score': 0.44}]
chr12 GH12I009636 9636001 9636476 1.03 [{'connected_gene': 'CLEC12A', 'score': 29.12}, {'connected_gene': 'KLRB1', 'score': 11.45}, {'connected_gene': 'CLECL1', 'score': 11.42}, {'connected_gene': 'CLEC7A', 'score': 9.7}, {'connected_gene': 'CLEC2B', 'score': 1.64}, {'connected_gene': 'CD69', 'score': 1.5}, {'connected_gene': 'GOT2P3', 'score': 0.44}, {'connected_gene': 'GC12M011958', 'score': 0.39}, {'connected_gene': 'RNU6-700P', 'score': 0.39}, {'connected_gene': 'LOC374443', 'score': 0.37}, {'connected_gene': 'ENSG00000284634', 'score': 0.09}]
chr12 GH12I009646 9646723 9656743 2.29 [{'connected_gene': 'LOC105369728', 'score': 550.77}, {'connected_gene': 'CLEC2D', 'score': 39.35}, {'connected_gene': 'LOC374443', 'score': 32.68}, {'connected_gene': 'DDX12P', 'score': 18.78}, {'connected_gene': 'KLRB1', 'score': 17.77}, {'connected_gene': 'CLECL1', 'score': 17.05}, {'connected_gene': 'CLEC7A', 'score': 16.86}, {'connected_gene': 'M6PR', 'score': 15.96}, {'connected_gene': 'CLEC12A', 'score': 15.45}, {'connected_gene': 'LOC642846', 'score': 13.69}, {'connected_gene': 'ENSG00000213443', 'score': 12.59}, {'connected_gene': 'ENSG00000214776', 'score': 12.04}, {'connected_gene': 'PHC1', 'score': 11.55}, {'connected_gene': 'EIF2S3B', 'score': 10.79}, {'connected_gene': 'LINC00612', 'score': 9.98}, {'connected_gene': 'RIMKLB', 'score': 9.8}, {'connected_gene': 'CD69', 'score': 9.09}, {'connected_gene': 'CLEC2B', 'score': 6.11}, {'connected_gene': 'KLRA1P', 'score': 5.23}, {'connected_gene': 'KLRF1', 'score': 3.79}, {'connected_gene': 'ENSG00000272917', 'score': 0.44}, {'connected_gene': 'ENSG00000284634', 'score': 0.08}]
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 GH12I009864 9864760 9873120 1.98 [{'connected_gene': 'ENSG00000255882', 'score': 557.62}, {'connected_gene': 'CLEC2B', 'score': 550.77}, {'connected_gene': 'LINC02470', 'score': 18.03}, {'connected_gene': 'CLEC2A', 'score': 8.07}, {'connected_gene': 'CLEC12A', 'score': 4.79}, {'connected_gene': 'ENSG00000214776', 'score': 4.67}]

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