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
ENST00000354393 [[69865911, 69865940], [69866296, 69866558], [69902696, 69902872], [69905231, 69905283], [69908109, 69908224], [69909796, 69909868], [69918242, 69918384], [69921485, 69921509], [69925458, 69925575], [69926050, 69926423], [69933822, 69934413], [69935079, 69935218], [69948661, 69948883], [69954119, 69954269], [69955206, 69955289], [69957108, 69957235], [69959124, 69959332], [69961585, 69961751], [69966526, 69966660], [69970042, 69971456]] [[69866481, 69866558], [69902696, 69902872], [69905231, 69905283], [69908109, 69908224], [69909796, 69909868], [69918242, 69918384], [69921485, 69921509], [69925458, 69925575], [69926050, 69926423], [69933822, 69934413], [69935079, 69935218], [69948661, 69948883], [69954119, 69954269], [69955206, 69955289], [69957108, 69957235], [69959124, 69959332], [69961585, 69961751], [69966526, 69966660], [69970042, 69970212]]
ENST00000540630 [[69868993, 69869480], [69881194, 69882097], [69902696, 69902872], [69905231, 69905283], [69908109, 69908224], [69909796, 69909868], [69918242, 69918384], [69925239, 69925255], [69925450, 69925575], [69926050, 69926423], [69933822, 69934413], [69935079, 69935218], [69948661, 69948883], [69954119, 69954269], [69955206, 69955289], [69957108, 69957235], [69959124, 69959332], [69961585, 69961751], [69966526, 69966660], [69970042, 69971458]] [[69881195, 69882097], [69902696, 69902872], [69905231, 69905283], [69908109, 69908224], [69909796, 69909868], [69918242, 69918384], [69925239, 69925255], [69925450, 69925575], [69926050, 69926423], [69933822, 69934413], [69935079, 69935218], [69948661, 69948883], [69954119, 69954269], [69955206, 69955289], [69957108, 69957235], [69959124, 69959332], [69961585, 69961751], [69966526, 69966660], [69970042, 69970212]]
ENST00000358913 [[69868993, 69869480], [69881194, 69882097], [69902696, 69902872], [69905231, 69905283], [69908109, 69908224], [69909796, 69909868], [69918242, 69918384], [69921485, 69921509], [69925458, 69925575], [69926050, 69926423], [69933822, 69934413], [69935079, 69935218], [69948661, 69948883], [69954119, 69954269], [69955206, 69955289], [69957108, 69957235], [69959124, 69959332], [69961585, 69961751], [69966526, 69966660], [69970042, 69971774]] [[69881195, 69882097], [69902696, 69902872], [69905231, 69905283], [69908109, 69908224], [69909796, 69909868], [69918242, 69918384], [69921485, 69921509], [69925458, 69925575], [69926050, 69926423], [69933822, 69934413], [69935079, 69935218], [69948661, 69948883], [69954119, 69954269], [69955206, 69955289], [69957108, 69957235], [69959124, 69959332], [69961585, 69961751], [69966526, 69966660], [69970042, 69970212]]
ENST00000373675 [[69869252, 69869480], [69881194, 69882097], [69902696, 69902872], [69905231, 69905283], [69908109, 69908224], [69909796, 69909868], [69918242, 69918384], [69921485, 69921923]] [[69881195, 69882097], [69902696, 69902872], [69905231, 69905283], [69908109, 69908224], [69909796, 69909868], [69918242, 69918384], [69921485, 69921550]]
NM_001256267 [[69865873, 69865940], [69869361, 69869480], [69881194, 69882097], [69902696, 69902872], [69905231, 69905283], [69908109, 69908224], [69909796, 69909868], [69918242, 69918384], [69921485, 69921509], [69925458, 69925575], [69926050, 69926423], [69933822, 69934413], [69935079, 69935218], [69948661, 69948883], [69954119, 69954269], [69955206, 69955289], [69957108, 69957235], [69959124, 69959332], [69961585, 69961751], [69966526, 69966660], [69970042, 69971774]] [[69881195, 69882097], [69902696, 69902872], [69905231, 69905283], [69908109, 69908224], [69909796, 69909868], [69918242, 69918384], [69921485, 69921509], [69925458, 69925575], [69926050, 69926423], [69933822, 69934413], [69935079, 69935218], [69948661, 69948883], [69954119, 69954269], [69955206, 69955289], [69957108, 69957235], [69959124, 69959332], [69961585, 69961751], [69966526, 69966660], [69970042, 69970212]]
NR_045662 [[69865873, 69865940], [69866296, 69866558], [69902696, 69902872], [69905231, 69905283], [69908109, 69908224], [69909796, 69909868], [69918242, 69918384], [69921485, 69921509], [69925458, 69925575], [69926050, 69926423], [69933822, 69934413], [69935079, 69935218], [69948661, 69948883], [69954119, 69954269], [69955206, 69955289], [69957108, 69957235], [69959124, 69959332], [69961585, 69961751], [69966526, 69966660], [69970042, 69971774]] None
NR_045663 [[69869189, 69869480], [69881194, 69882097], [69902696, 69902872], [69905231, 69905283], [69908109, 69908224], [69909796, 69909868], [69918242, 69918384], [69925458, 69925575], [69926050, 69926423], [69933822, 69934413], [69948661, 69948883], [69954119, 69954269], [69955206, 69955289], [69957108, 69957235], [69959124, 69959332], [69961585, 69961751], [69966526, 69966660], [69970042, 69971774]] None
NM_032578 [[69869189, 69869480], [69881194, 69882097], [69902696, 69902872], [69905231, 69905283], [69908109, 69908224], [69909796, 69909868], [69918242, 69918384], [69921485, 69921509], [69925458, 69925575], [69926050, 69926423], [69933822, 69934413], [69935079, 69935218], [69948661, 69948883], [69954119, 69954269], [69955206, 69955289], [69957108, 69957235], [69959124, 69959332], [69961585, 69961751], [69966526, 69966660], [69970042, 69971774]] [[69881195, 69882097], [69902696, 69902872], [69905231, 69905283], [69908109, 69908224], [69909796, 69909868], [69918242, 69918384], [69921485, 69921509], [69925458, 69925575], [69926050, 69926423], [69933822, 69934413], [69935079, 69935218], [69948661, 69948883], [69954119, 69954269], [69955206, 69955289], [69957108, 69957235], [69959124, 69959332], [69961585, 69961751], [69966526, 69966660], [69970042, 69970212]]
NM_001256268 [[69869189, 69869480], [69873989, 69874053], [69881194, 69882097], [69895215, 69895269], [69895966, 69896020], [69896356, 69896488], [69902696, 69902872], [69905231, 69905283], [69908109, 69908224], [69909796, 69909868], [69918242, 69918384], [69921485, 69921509], [69925458, 69925575], [69926050, 69926423], [69933822, 69934413], [69935079, 69935218], [69948661, 69948883], [69954119, 69954269], [69955206, 69955289], [69957108, 69957235], [69959124, 69959332], [69961585, 69961751], [69966526, 69966660], [69970042, 69971774]] [[69896468, 69896488], [69902696, 69902872], [69905231, 69905283], [69908109, 69908224], [69909796, 69909868], [69918242, 69918384], [69921485, 69921509], [69925458, 69925575], [69926050, 69926423], [69933822, 69934413], [69935079, 69935218], [69948661, 69948883], [69954119, 69954269], [69955206, 69955289], [69957108, 69957235], [69959124, 69959332], [69961585, 69961751], [69966526, 69966660], [69970042, 69970212]]
Promoter
Chrom Start End Description
chr10 69865755 69865771 CAGE_peak_4_at_MYPN_5end
chr10 69865822 69865860 CAGE_peak_3_at_MYPN_5end
chr10 69865866 69865898 CAGE_peak_2_at_MYPN_5end
chr10 69869237 69869264 CAGE_peak_1_at_MYPN_5end
chr10 69869275 69869291 CAGE_peak_5_at_MYPN_5end
chr10 69869304 69869314 CAGE_peak_9_at_MYPN_5end
chr10 69869315 69869334 CAGE_peak_6_at_MYPN_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr10 GH10I068144 68144469 68149366 0.52 [{'connected_gene': 'MYPN', 'score': 10.9}, {'connected_gene': 'HERC4', 'score': 10.78}, {'connected_gene': 'SIRT1', 'score': 10.7}, {'connected_gene': 'ATOH7', 'score': 10.6}, {'connected_gene': 'ENSG00000233590', 'score': 10.59}, {'connected_gene': 'RUFY2', 'score': 9.8}, {'connected_gene': 'RN7SKP202', 'score': 0.39}]
chr10 GH10I068102 68102865 68112107 1.76 [{'connected_gene': 'MYPN', 'score': 561.37}, {'connected_gene': 'HERC4', 'score': 11.38}, {'connected_gene': 'ATOH7', 'score': 5.15}, {'connected_gene': 'RN7SKP202', 'score': 0.23}]
chr10 GH10I068150 68150878 68158393 1.68 [{'connected_gene': 'MYPN', 'score': 23.23}, {'connected_gene': 'SIRT1', 'score': 16.98}, {'connected_gene': 'HERC4', 'score': 10.77}, {'connected_gene': 'ATOH7', 'score': 10.54}, {'connected_gene': 'ENSG00000233590', 'score': 10.52}, {'connected_gene': 'RN7SKP202', 'score': 6.89}, {'connected_gene': 'DNA2', 'score': 5.97}, {'connected_gene': 'PBLD', 'score': 1.68}, {'connected_gene': 'HNRNPH3', 'score': 1.46}]
chr10 GH10I068133 68133078 68138667 1.29 [{'connected_gene': 'MYPN', 'score': 5.3}, {'connected_gene': 'SIRT1', 'score': 4.17}, {'connected_gene': 'RN7SKP202', 'score': 0.34}]
chr10 GH10I068163 68163628 68164460 0.75 [{'connected_gene': 'MYPN', 'score': 12.7}, {'connected_gene': 'ATOH7', 'score': 11.15}, {'connected_gene': 'ENSG00000233590', 'score': 11.13}, {'connected_gene': 'HERC4', 'score': 10.34}, {'connected_gene': 'RN7SKP202', 'score': 0.44}, {'connected_gene': 'GC10M068220', 'score': 0.22}]
chr10 GH10I068161 68160750 68161367 0.31 [{'connected_gene': 'MYPN', 'score': 12.36}, {'connected_gene': 'DNA2', 'score': 7.81}, {'connected_gene': 'RN7SKP202', 'score': 0.77}, {'connected_gene': 'GC10M068220', 'score': 0.22}]
chr10 GH10I068139 68139004 68140637 1 [{'connected_gene': 'MYPN', 'score': 1.92}, {'connected_gene': 'RN7SKP202', 'score': 0.37}]
chr10 GH10I068173 68173062 68174013 0.7 [{'connected_gene': 'CCAR1', 'score': 17.48}, {'connected_gene': 'MYPN', 'score': 12.9}, {'connected_gene': 'HERC4', 'score': 12.05}, {'connected_gene': 'HNRNPH3', 'score': 11.15}, {'connected_gene': 'DDX50', 'score': 11.1}, {'connected_gene': 'SIRT1', 'score': 10.29}, {'connected_gene': 'DNA2', 'score': 4.69}, {'connected_gene': 'RN7SKP202', 'score': 0.37}, {'connected_gene': 'GC10M068220', 'score': 0.25}]
chr10 GH10I068119 68119294 68120402 0.77 [{'connected_gene': 'CCAR1', 'score': 120.4}, {'connected_gene': 'HNRNPH3', 'score': 90.09}, {'connected_gene': 'DDX50', 'score': 71.64}, {'connected_gene': 'SIRT1', 'score': 63.64}, {'connected_gene': 'HERC4', 'score': 60.42}, {'connected_gene': 'TET1', 'score': 20.33}, {'connected_gene': 'KIF1BP', 'score': 19.78}, {'connected_gene': 'RUFY2', 'score': 13.61}, {'connected_gene': 'ENSG00000260400', 'score': 11.11}, {'connected_gene': 'RPL26P27', 'score': 10.1}, {'connected_gene': 'RPS3AP38', 'score': 9.98}, {'connected_gene': 'RPL12P8', 'score': 9.84}, {'connected_gene': 'MYPN', 'score': 0.39}, {'connected_gene': 'RN7SKP202', 'score': 0.28}]
chr10 GH10I068096 68096608 68098877 1.21 [{'connected_gene': 'HERC4', 'score': 11.13}, {'connected_gene': 'ATOH7', 'score': 10.76}, {'connected_gene': 'ENSG00000233590', 'score': 10.76}, {'connected_gene': 'HNRNPH3', 'score': 9.77}, {'connected_gene': 'PBLD', 'score': 9.76}, {'connected_gene': 'MYPN', 'score': 6.29}, {'connected_gene': 'SIRT1', 'score': 5.78}, {'connected_gene': 'PIR62804', 'score': 0.37}]
chr10 GH10I068077 68077293 68078575 0.2 [{'connected_gene': 'SIRT1', 'score': 16.5}, {'connected_gene': 'MYPN', 'score': 10.74}, {'connected_gene': 'PBLD', 'score': 10.34}, {'connected_gene': 'HNRNPH3', 'score': 10.34}, {'connected_gene': 'PIR62804', 'score': 0.77}, {'connected_gene': 'HERC4', 'score': 0.77}]
chr10 GH10I068082 68082466 68084959 0.77 [{'connected_gene': 'SIRT1', 'score': 13.25}, {'connected_gene': 'MYPN', 'score': 10.76}, {'connected_gene': 'ATOH7', 'score': 10.71}, {'connected_gene': 'ENSG00000233590', 'score': 10.7}, {'connected_gene': 'PBLD', 'score': 10.34}, {'connected_gene': 'HNRNPH3', 'score': 10.34}, {'connected_gene': 'PIR62804', 'score': 0.77}]
chr10 GH10I068113 68113983 68115360 0.31 [{'connected_gene': 'SIRT1', 'score': 6.61}, {'connected_gene': 'MYPN', 'score': 0.44}, {'connected_gene': 'RN7SKP202', 'score': 0.26}]
chr10 GH10I068125 68125864 68126213 0.77 [{'connected_gene': 'SIRT1', 'score': 10.52}, {'connected_gene': 'MYPN', 'score': 0.37}, {'connected_gene': 'RN7SKP202', 'score': 0.29}]
chr10 GH10I068124 68124484 68125144 0.2 [{'connected_gene': 'SIRT1', 'score': 15.7}, {'connected_gene': 'MYPN', 'score': 0.37}, {'connected_gene': 'RN7SKP202', 'score': 0.29}]
chr10 GH10I068121 68121357 68122864 0.86 [{'connected_gene': 'SIRT1', 'score': 10.52}, {'connected_gene': 'MYPN', 'score': 0.37}, {'connected_gene': 'RN7SKP202', 'score': 0.28}]
chr10 GH10I068127 68127294 68130277 0.46 [{'connected_gene': 'SIRT1', 'score': 10.52}, {'connected_gene': 'MYPN', 'score': 5.58}, {'connected_gene': 'RN7SKP202', 'score': 0.31}]
chr10 GH10I067815 67815072 67819347 0.9 [{'connected_gene': 'SIRT1', 'score': 14.5}, {'connected_gene': 'DNAJC12', 'score': 12.43}, {'connected_gene': 'MYPN', 'score': 5.12}, {'connected_gene': 'RNU6-1250P', 'score': 0.44}, {'connected_gene': 'RN7SL394P', 'score': 0.44}, {'connected_gene': 'GC10M067826', 'score': 0.44}]
chr10 GH10I068091 68091814 68096422 1.48 [{'connected_gene': 'SIRT1', 'score': 24.61}, {'connected_gene': 'HNRNPH3', 'score': 21.51}, {'connected_gene': 'CCAR1', 'score': 18.16}, {'connected_gene': 'HERC4', 'score': 16.31}, {'connected_gene': 'DDX50', 'score': 15.81}, {'connected_gene': 'ATOH7', 'score': 10.77}, {'connected_gene': 'ENSG00000233590', 'score': 10.76}, {'connected_gene': 'PBLD', 'score': 9.87}, {'connected_gene': 'MYPN', 'score': 6.36}, {'connected_gene': 'PIR62804', 'score': 0.39}]
chr10 GH10I068116 68116407 68117853 0.2 [{'connected_gene': 'SIRT1', 'score': 5.81}, {'connected_gene': 'HERC4', 'score': 5.11}, {'connected_gene': 'MYPN', 'score': 0.39}, {'connected_gene': 'RN7SKP202', 'score': 0.26}]
chr10 GH10I067883 67883524 67886988 2.12 [{'connected_gene': 'SIRT1', 'score': 592.45}, {'connected_gene': 'HERC4', 'score': 33.72}, {'connected_gene': 'CCAR1', 'score': 23.43}, {'connected_gene': 'HNRNPH3', 'score': 14.32}, {'connected_gene': 'RPL12P8', 'score': 12.08}, {'connected_gene': 'TET1', 'score': 11.0}, {'connected_gene': 'RPS3AP38', 'score': 10.7}, {'connected_gene': 'RPL26P27', 'score': 9.8}, {'connected_gene': 'MYPN', 'score': 4.31}, {'connected_gene': 'GC10M067961', 'score': 0.18}]
chr10 GH10I068188 68188103 68188428 0.24 [{'connected_gene': 'ATOH7', 'score': 11.27}, {'connected_gene': 'ENSG00000233590', 'score': 11.24}, {'connected_gene': 'PBLD', 'score': 9.78}, {'connected_gene': 'HNRNPH3', 'score': 9.78}, {'connected_gene': 'DNA2', 'score': 9.16}, {'connected_gene': 'MYPN', 'score': 3.38}, {'connected_gene': 'RUFY2', 'score': 1.42}, {'connected_gene': 'GC10M068220', 'score': 0.29}, {'connected_gene': 'RN7SKP202', 'score': 0.29}]
chr10 GH10I068208 68208259 68209075 0.78 [{'connected_gene': 'ATOH7', 'score': 12.07}, {'connected_gene': 'ENSG00000233590', 'score': 12.02}, {'connected_gene': 'PBLD', 'score': 10.83}, {'connected_gene': 'HNRNPH3', 'score': 10.83}, {'connected_gene': 'GC10M068220', 'score': 0.39}, {'connected_gene': 'RN7SKP202', 'score': 0.23}, {'connected_gene': 'MYPN', 'score': 0.15}]
chr10 GH10I068099 68099248 68100941 0.51 [{'connected_gene': 'ATOH7', 'score': 15.08}, {'connected_gene': 'HERC4', 'score': 11.09}, {'connected_gene': 'ENSG00000233590', 'score': 10.05}, {'connected_gene': 'MYPN', 'score': 0.44}, {'connected_gene': 'PIR62804', 'score': 0.37}]
chr10 GH10I068085 68085200 68089906 1.16 [{'connected_gene': 'ATOH7', 'score': 15.71}, {'connected_gene': 'SIRT1', 'score': 15.59}, {'connected_gene': 'ENSG00000233590', 'score': 10.7}, {'connected_gene': 'PIR62804', 'score': 0.44}, {'connected_gene': 'MYPN', 'score': 0.37}]
chr10 GH10I068090 68090392 68091490 0.31 [{'connected_gene': 'ATOH7', 'score': 10.71}, {'connected_gene': 'ENSG00000233590', 'score': 10.7}, {'connected_gene': 'SIRT1', 'score': 6.13}, {'connected_gene': 'PIR62804', 'score': 0.39}, {'connected_gene': 'MYPN', 'score': 0.37}]
chr10 GH10I068158 68158821 68159628 0.2 [{'connected_gene': 'RN7SKP202', 'score': 550.77}, {'connected_gene': 'MYPN', 'score': 8.2}, {'connected_gene': 'GC10M068220', 'score': 0.21}]
chr10 GH10I068160 68160484 68160633 0.58 [{'connected_gene': 'RN7SKP202', 'score': 0.77}, {'connected_gene': 'MYPN', 'score': 0.23}, {'connected_gene': 'GC10M068220', 'score': 0.22}]
chr10 GH10I068141 68141245 68144088 0.43 [{'connected_gene': 'RN7SKP202', 'score': 0.37}, {'connected_gene': 'MYPN', 'score': 0.28}]
chr10 GH10I068184 68184282 68185000 0.38 [{'connected_gene': 'ENSG00000233590', 'score': 18.42}, {'connected_gene': 'ATOH7', 'score': 10.95}, {'connected_gene': 'MYPN', 'score': 8.52}, {'connected_gene': 'RN7SKP202', 'score': 0.31}, {'connected_gene': 'GC10M068220', 'score': 0.28}]
chr10 GH10I068202 68202601 68203399 0.58 [{'connected_gene': 'ENSG00000233590', 'score': 21.18}, {'connected_gene': 'ATOH7', 'score': 12.04}, {'connected_gene': 'HNRNPH3', 'score': 10.83}, {'connected_gene': 'PBLD', 'score': 10.82}, {'connected_gene': 'MYPN', 'score': 8.55}, {'connected_gene': 'GC10M068220', 'score': 0.37}, {'connected_gene': 'RN7SKP202', 'score': 0.26}]
chr10 GH10I068630 68630552 68632542 0.57 [{'connected_gene': 'GC10P068633', 'score': 550.77}, {'connected_gene': 'COX20P1', 'score': 550.77}, {'connected_gene': 'CCAR1', 'score': 18.3}, {'connected_gene': 'STOX1', 'score': 16.74}, {'connected_gene': 'DDX50', 'score': 15.85}, {'connected_gene': 'SIRT1', 'score': 12.16}, {'connected_gene': 'HNRNPH3', 'score': 11.69}, {'connected_gene': 'HERC4', 'score': 11.29}, {'connected_gene': 'KIF1BP', 'score': 10.05}, {'connected_gene': 'ATOH7', 'score': 5.23}, {'connected_gene': 'MYPN', 'score': 4.95}, {'connected_gene': 'GC10P068600', 'score': 0.29}, {'connected_gene': 'TET1', 'score': 0.19}]

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