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
ENST00000546084 [[123664670, 123667516], [123671507, 123671656], [123673613, 123673791], [123675605, 123676016], [123676512, 123676578], [123676785, 123676850]] [[123667297, 123667516], [123671507, 123671656], [123673613, 123673791], [123675605, 123675944]]
ENST00000373887 [[123664670, 123667516], [123671507, 123671656], [123673613, 123673791], [123675605, 123676016], [123676512, 123676578], [123685982, 123686070], [123688213, 123688579], [123688827, 123691047]] [[123667297, 123667516], [123671507, 123671656], [123673613, 123673791], [123675605, 123676016], [123676512, 123676578], [123685982, 123686070], [123688213, 123688353]]
ENST00000540010 [[123664670, 123667516], [123671507, 123671656], [123673613, 123673791], [123675605, 123676016], [123676512, 123676578], [123685982, 123686070], [123688213, 123688579], [123688827, 123688966], [123691391, 123691451]] [[123667297, 123667516], [123671507, 123671656], [123673613, 123673791], [123675605, 123676016], [123676512, 123676578], [123685982, 123686070], [123688213, 123688353]]
NM_001190947 [[123664670, 123667516], [123671507, 123671656], [123673613, 123673791], [123675605, 123676016], [123676512, 123676578], [123676785, 123676850]] [[123667297, 123667516], [123671507, 123671656], [123673613, 123673791], [123675605, 123675944]]
NM_005658 [[123664670, 123667516], [123671507, 123671656], [123673613, 123673791], [123675605, 123676016], [123676512, 123676578], [123685982, 123686070], [123688213, 123688579], [123688827, 123689173]] [[123667297, 123667516], [123671507, 123671656], [123673613, 123673791], [123675605, 123676016], [123676512, 123676578], [123685982, 123686070], [123688213, 123688353]]
NM_001190945 [[123664670, 123667516], [123671507, 123671656], [123673613, 123673791], [123675605, 123676016], [123676512, 123676578], [123685982, 123686070], [123688213, 123688579], [123688827, 123688966], [123691391, 123691451]] [[123667297, 123667516], [123671507, 123671656], [123673613, 123673791], [123675605, 123676016], [123676512, 123676578], [123685982, 123686070], [123688213, 123688353]]
Promoter
Chrom Start End Description
chr9 123676827 123676865 CAGE_peak_7_at_TRAF1_5end
chr9 123688431 123688465 CAGE_peak_1_at_TRAF1_5end
chr9 123688678 123688689 CAGE_peak_9_at_TRAF1_5end
chr9 123689030 123689103 CAGE_peak_4_at_TRAF1_5end
chr9 123691186 123691188 CAGE_peak_8_at_TRAF1_5end
chr9 123691281 123691362 CAGE_peak_2_at_TRAF1_5end
chr9 123691373 123691438 CAGE_peak_3_at_TRAF1_5end
chr9 123691439 123691456 CAGE_peak_5_at_TRAF1_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr9 GH09I121020 121020395 121022205 0.31 [{'connected_gene': 'C5', 'score': 17.99}, {'connected_gene': 'CUTALP', 'score': 6.95}, {'connected_gene': 'CNTRL', 'score': 0.23}, {'connected_gene': 'TRAF1', 'score': 0.16}]
chr9 GH09I121055 121055703 121055932 0.74 [{'connected_gene': 'C5', 'score': 0.37}, {'connected_gene': 'CNTRL', 'score': 0.37}, {'connected_gene': 'TRAF1', 'score': 0.13}]
chr9 GH09I121038 121038054 121039354 0.43 [{'connected_gene': 'C5', 'score': 12.35}, {'connected_gene': 'CNTRL', 'score': 12.35}, {'connected_gene': 'TRAF1', 'score': 0.14}]
chr9 GH09I121050 121050041 121050726 1.32 [{'connected_gene': 'C5', 'score': 562.43}, {'connected_gene': 'CNTRL', 'score': 12.43}, {'connected_gene': 'TRAF1', 'score': 0.13}]
chr9 GH09I121060 121060163 121060312 0.69 [{'connected_gene': 'C5', 'score': 9.67}, {'connected_gene': 'CNTRL', 'score': 0.39}, {'connected_gene': 'TRAF1', 'score': 0.12}]
chr9 GH09I120951 120951833 120952585 0.2 [{'connected_gene': 'TRAF1', 'score': 11.26}, {'connected_gene': 'C5', 'score': 0.13}, {'connected_gene': 'CNTRL', 'score': 0.13}]
chr9 GH09I120981 120981783 120981912 0.46 [{'connected_gene': 'TRAF1', 'score': 0.23}, {'connected_gene': 'C5', 'score': 0.16}, {'connected_gene': 'CNTRL', 'score': 0.16}]
chr9 GH09I120970 120970341 120970472 0.43 [{'connected_gene': 'TRAF1', 'score': 0.26}, {'connected_gene': 'C5', 'score': 0.15}, {'connected_gene': 'CNTRL', 'score': 0.15}]
chr9 GH09I120948 120948257 120949607 0.31 [{'connected_gene': 'TRAF1', 'score': 12.77}, {'connected_gene': 'PSMD5', 'score': 5.28}, {'connected_gene': 'CNTRL', 'score': 0.13}]
chr9 GH09I120723 120723336 120724264 0.77 [{'connected_gene': 'TRAF1', 'score': 10.17}, {'connected_gene': 'CDK5RAP2', 'score': 9.84}, {'connected_gene': 'AHCYP2', 'score': 0.77}, {'connected_gene': 'PIR59216', 'score': 0.2}]
chr9 GH09I120914 120914547 120914606 0.81 [{'connected_gene': 'TRAF1', 'score': 550.39}, {'connected_gene': 'PHF19', 'score': 0.37}]
chr9 GH09I120899 120899570 120900026 0.63 [{'connected_gene': 'TRAF1', 'score': 12.12}, {'connected_gene': 'PHF19', 'score': 0.77}]
chr9 GH09I120856 120856843 120856992 0.66 [{'connected_gene': 'TRAF1', 'score': 11.18}, {'connected_gene': 'PIR42449', 'score': 0.77}, {'connected_gene': 'PHF19', 'score': 0.28}]
chr9 GH09I120913 120913903 120914052 0.94 [{'connected_gene': 'TRAF1', 'score': 0.37}, {'connected_gene': 'PHF19', 'score': 0.37}]
chr9 GH09I120860 120860262 120861179 0.2 [{'connected_gene': 'TRAF1', 'score': 11.68}, {'connected_gene': 'PIR42449', 'score': 0.44}, {'connected_gene': 'PHF19', 'score': 0.29}]
chr9 GH09I120888 120888373 120895365 1.51 [{'connected_gene': 'TRAF1', 'score': 36.29}, {'connected_gene': 'CUTALP', 'score': 27.21}, {'connected_gene': 'PSMD5', 'score': 20.77}, {'connected_gene': 'FBXW2', 'score': 16.2}, {'connected_gene': 'CNTRL', 'score': 9.71}, {'connected_gene': 'PHF19', 'score': 0.77}, {'connected_gene': 'PIR42449', 'score': 0.28}]
chr9 GH09I120923 120923211 120938455 2.74 [{'connected_gene': 'TRAF1', 'score': 572.95}, {'connected_gene': 'CUTALP', 'score': 42.09}, {'connected_gene': 'PSMD5', 'score': 16.86}, {'connected_gene': 'FBXW2', 'score': 12.03}, {'connected_gene': 'B3GNT10', 'score': 10.83}, {'connected_gene': 'CNTRL', 'score': 0.11}]
chr9 GH09I120950 120950801 120951000 0.58 [{'connected_gene': 'TRAF1', 'score': 18.55}, {'connected_gene': 'CNTRL', 'score': 0.13}]
chr9 GH09I120938 120938714 120939318 0.2 [{'connected_gene': 'TRAF1', 'score': 7.48}, {'connected_gene': 'CNTRL', 'score': 0.12}]
chr9 GH09I120949 120949678 120950076 0.2 [{'connected_gene': 'TRAF1', 'score': 11.26}, {'connected_gene': 'CNTRL', 'score': 0.13}]
chr9 GH09I120941 120941183 120941312 0.72 [{'connected_gene': 'TRAF1', 'score': 0.39}, {'connected_gene': 'CNTRL', 'score': 0.12}]
chr9 GH09I120940 120940582 120941052 0.43 [{'connected_gene': 'TRAF1', 'score': 10.83}, {'connected_gene': 'CNTRL', 'score': 0.12}]
chr9 GH09I120952 120951143 120951292 0.58 [{'connected_gene': 'TRAF1', 'score': 11.26}, {'connected_gene': 'CNTRL', 'score': 0.13}]
chr9 GH09I121307 121307347 121311488 0.6 [{'connected_gene': 'PSMD5', 'score': 13.31}, {'connected_gene': 'ENSG00000270917', 'score': 12.38}, {'connected_gene': 'STOM', 'score': 12.15}, {'connected_gene': 'LOC102723324', 'score': 12.15}, {'connected_gene': 'GSN-AS1', 'score': 11.72}, {'connected_gene': 'ENSG00000239593', 'score': 11.69}, {'connected_gene': 'GSN', 'score': 11.53}, {'connected_gene': 'C5', 'score': 10.13}, {'connected_gene': 'GGTA1P', 'score': 10.13}, {'connected_gene': 'DAB2IP', 'score': 10.04}, {'connected_gene': 'TRAF1', 'score': 4.28}, {'connected_gene': 'PIR41790', 'score': 0.37}]
chr9 GH09I120965 120965306 120966960 0.89 [{'connected_gene': 'PSMD5', 'score': 27.51}, {'connected_gene': 'CNTRL', 'score': 18.23}, {'connected_gene': 'FBXW2', 'score': 15.65}, {'connected_gene': 'CUTALP', 'score': 14.6}, {'connected_gene': 'TRAF1', 'score': 13.1}, {'connected_gene': 'C5', 'score': 0.14}]
chr9 GH09I121192 121192502 121202800 2.45 [{'connected_gene': 'RAB14', 'score': 550.31}, {'connected_gene': 'CUTALP', 'score': 24.55}, {'connected_gene': 'C5', 'score': 18.57}, {'connected_gene': 'CNTRL', 'score': 13.19}, {'connected_gene': 'GSN-AS1', 'score': 11.43}, {'connected_gene': 'ENSG00000239593', 'score': 11.43}, {'connected_gene': 'FBXW2', 'score': 11.22}, {'connected_gene': 'LOC102723324', 'score': 11.05}, {'connected_gene': 'STOM', 'score': 10.57}, {'connected_gene': 'GGTA1P', 'score': 7.2}, {'connected_gene': 'TRAF1', 'score': 6.35}, {'connected_gene': 'DAB2IP', 'score': 5.42}, {'connected_gene': 'RN7SL181P', 'score': 0.44}, {'connected_gene': 'PIR40575', 'score': 0.39}]
chr9 GH09I121220 121220752 121222076 1.15 [{'connected_gene': 'RAB14', 'score': 550.77}, {'connected_gene': 'CUTALP', 'score': 4.39}, {'connected_gene': 'TRAF1', 'score': 3.67}, {'connected_gene': 'GSN', 'score': 1.89}]
chr9 GH09I121350 121349917 121366199 1.57 [{'connected_gene': 'RAB14', 'score': 11.77}, {'connected_gene': 'GGTA1P', 'score': 11.5}, {'connected_gene': 'GSN', 'score': 11.05}, {'connected_gene': 'GSN-AS1', 'score': 10.64}, {'connected_gene': 'ENSG00000239593', 'score': 10.63}, {'connected_gene': 'CUTALP', 'score': 8.55}, {'connected_gene': 'TRAF1', 'score': 5.01}, {'connected_gene': 'STOM', 'score': 0.39}, {'connected_gene': 'LOC102723324', 'score': 0.39}, {'connected_gene': 'PIR41790', 'score': 0.29}]
chr9 GH09I120895 120895462 120895725 0.31 [{'connected_gene': 'PHF19', 'score': 550.77}, {'connected_gene': 'TRAF1', 'score': 0.29}]
chr9 GH09I120871 120871883 120880008 2.19 [{'connected_gene': 'PHF19', 'score': 550.37}, {'connected_gene': 'CUTALP', 'score': 28.24}, {'connected_gene': 'TRAF1', 'score': 24.22}, {'connected_gene': 'PSMD5', 'score': 6.17}, {'connected_gene': 'PIR42449', 'score': 0.34}]
chr9 GH09I120867 120867756 120870861 2.1 [{'connected_gene': 'PHF19', 'score': 550.31}, {'connected_gene': 'CUTALP', 'score': 79.6}, {'connected_gene': 'TRAF1', 'score': 11.76}, {'connected_gene': 'PIR42449', 'score': 0.37}]
chr9 GH09I120897 120896193 120896406 0.7 [{'connected_gene': 'PHF19', 'score': 550.77}, {'connected_gene': 'CUTALP', 'score': 27.2}, {'connected_gene': 'TRAF1', 'score': 18.48}]
chr9 GH09I120985 120985801 120986200 0.77 [{'connected_gene': 'CUTALP', 'score': 6.8}, {'connected_gene': 'TRAF1', 'score': 0.22}, {'connected_gene': 'C5', 'score': 0.17}, {'connected_gene': 'CNTRL', 'score': 0.17}]
chr9 GH09I120865 120865075 120867385 0.31 [{'connected_gene': 'CUTALP', 'score': 12.0}, {'connected_gene': 'TRAF1', 'score': 11.68}, {'connected_gene': 'PSMD5', 'score': 8.27}, {'connected_gene': 'PIR42449', 'score': 0.39}, {'connected_gene': 'PHF19', 'score': 0.31}]
chr9 GH09I120729 120729401 120732235 1.56 [{'connected_gene': 'CUTALP', 'score': 35.42}, {'connected_gene': 'TRAF1', 'score': 13.94}, {'connected_gene': 'CDK5RAP2', 'score': 9.61}, {'connected_gene': 'AHCYP2', 'score': 0.39}, {'connected_gene': 'PIR59216', 'score': 0.21}]
chr9 GH09I120909 120909434 120910468 1 [{'connected_gene': 'CUTALP', 'score': 27.17}, {'connected_gene': 'TRAF1', 'score': 13.53}, {'connected_gene': 'FBXW2', 'score': 1.37}, {'connected_gene': 'PHF19', 'score': 0.37}]
chr9 GH09I120918 120918712 120921228 1.51 [{'connected_gene': 'CUTALP', 'score': 27.33}, {'connected_gene': 'TRAF1', 'score': 21.27}, {'connected_gene': 'FBXW2', 'score': 1.26}, {'connected_gene': 'PHF19', 'score': 0.31}]
chr9 GH09I120900 120900283 120900432 0.63 [{'connected_gene': 'CUTALP', 'score': 24.61}, {'connected_gene': 'TRAF1', 'score': 12.12}, {'connected_gene': 'PHF19', 'score': 0.44}]
chr9 GH09I120921 120921601 120922000 0.83 [{'connected_gene': 'CUTALP', 'score': 27.06}, {'connected_gene': 'TRAF1', 'score': 0.44}, {'connected_gene': 'PHF19', 'score': 0.31}]
chr9 GH09I120885 120885000 120887228 1.06 [{'connected_gene': 'CUTALP', 'score': 27.21}, {'connected_gene': 'TRAF1', 'score': 23.47}, {'connected_gene': 'PHF19', 'score': 0.44}, {'connected_gene': 'PIR42449', 'score': 0.29}]
chr9 GH09I120911 120911258 120912392 0.46 [{'connected_gene': 'CUTALP', 'score': 23.44}, {'connected_gene': 'TRAF1', 'score': 0.37}, {'connected_gene': 'PHF19', 'score': 0.37}]
chr9 GH09I120915 120915163 120915312 0.63 [{'connected_gene': 'CUTALP', 'score': 23.55}, {'connected_gene': 'TRAF1', 'score': 0.39}, {'connected_gene': 'PHF19', 'score': 0.34}]
chr9 GH09I120901 120900825 120907061 0.83 [{'connected_gene': 'CUTALP', 'score': 27.19}, {'connected_gene': 'TRAF1', 'score': 21.17}, {'connected_gene': 'PHF19', 'score': 0.44}]
chr9 GH09I120683 120683763 120685413 1.56 [{'connected_gene': 'CUTALP', 'score': 28.46}, {'connected_gene': 'TRAF1', 'score': 11.98}, {'connected_gene': 'MEGF9', 'score': 0.31}, {'connected_gene': 'PIR45570', 'score': 0.21}]
chr9 GH09I120944 120944088 120945000 1.12 [{'connected_gene': 'CUTALP', 'score': 26.89}, {'connected_gene': 'TRAF1', 'score': 14.03}, {'connected_gene': 'CNTRL', 'score': 0.12}]
chr9 GH09I120942 120942363 120943001 1.02 [{'connected_gene': 'CUTALP', 'score': 24.17}, {'connected_gene': 'TRAF1', 'score': 0.39}, {'connected_gene': 'CNTRL', 'score': 0.12}]
chr9 GH09I120939 120939658 120940343 0.2 [{'connected_gene': 'CUTALP', 'score': 25.01}, {'connected_gene': 'TRAF1', 'score': 14.04}, {'connected_gene': 'CNTRL', 'score': 0.12}]
chr9 GH09I120896 120896675 120898259 1.25 [{'connected_gene': 'CUTALP', 'score': 27.2}, {'connected_gene': 'FBXW2', 'score': 14.49}, {'connected_gene': 'PSMD5', 'score': 14.0}, {'connected_gene': 'TRAF1', 'score': 12.67}, {'connected_gene': 'CNTRL', 'score': 12.38}, {'connected_gene': 'ENSG00000239593', 'score': 10.21}, {'connected_gene': 'PHF19', 'score': 0.77}]
chr9 GH09I120916 120915636 120918255 1.08 [{'connected_gene': 'CUTALP', 'score': 27.46}, {'connected_gene': 'FBXW2', 'score': 22.61}, {'connected_gene': 'PSMD5', 'score': 17.42}, {'connected_gene': 'CNTRL', 'score': 12.66}, {'connected_gene': 'TRAF1', 'score': 7.43}, {'connected_gene': 'PHF19', 'score': 0.34}]
chr9 GH09I120898 120898420 120898936 0.43 [{'connected_gene': 'CUTALP', 'score': 26.51}, {'connected_gene': 'PHF19', 'score': 0.77}, {'connected_gene': 'TRAF1', 'score': 0.29}]
chr9 GH09I120734 120734402 120736800 1.28 [{'connected_gene': 'CUTALP', 'score': 31.19}, {'connected_gene': 'MEGF9', 'score': 12.83}, {'connected_gene': 'TRAF1', 'score': 10.93}, {'connected_gene': 'PSMD5', 'score': 8.36}, {'connected_gene': 'AHCYP2', 'score': 0.37}, {'connected_gene': 'PIR59216', 'score': 0.22}]
chr9 GH09I121026 121026623 121026772 0.67 [{'connected_gene': 'MEGF9', 'score': 10.14}, {'connected_gene': 'C5', 'score': 0.25}, {'connected_gene': 'CNTRL', 'score': 0.25}, {'connected_gene': 'TRAF1', 'score': 0.15}]
chr9 GH09I120783 120783401 120784392 1.24 [{'connected_gene': 'MEGF9', 'score': 12.5}, {'connected_gene': 'TRAF1', 'score': 7.52}, {'connected_gene': 'FBXW2', 'score': 2.27}, {'connected_gene': 'PIR59216', 'score': 0.44}, {'connected_gene': 'AHCYP2', 'score': 0.21}]
chr9 GH09I120630 120630881 120631070 0.43 [{'connected_gene': 'MEGF9', 'score': 13.33}, {'connected_gene': 'CDK5RAP2', 'score': 11.17}, {'connected_gene': 'TRAF1', 'score': 1.45}, {'connected_gene': 'PIR45570', 'score': 0.44}]
chr9 GH09I120583 120583243 120585058 1.26 [{'connected_gene': 'GGTA1P', 'score': 4.65}, {'connected_gene': 'MEGF9', 'score': 4.53}, {'connected_gene': 'CUTALP', 'score': 4.14}, {'connected_gene': 'TRAF1', 'score': 1.91}, {'connected_gene': 'CDK5RAP2', 'score': 0.77}, {'connected_gene': 'PIR45570', 'score': 0.28}]
chr9 GH09I121070 121070930 121076212 1.89 [{'connected_gene': 'CNTRL', 'score': 574.88}, {'connected_gene': 'C5', 'score': 570.4}, {'connected_gene': 'PSMD5', 'score': 66.58}, {'connected_gene': 'FBXW2', 'score': 46.83}, {'connected_gene': 'CUTALP', 'score': 13.69}, {'connected_gene': 'ENSG00000270917', 'score': 12.4}, {'connected_gene': 'TRAF1', 'score': 10.57}, {'connected_gene': 'DAB2IP', 'score': 10.01}]
chr9 GH09I121338 121338243 121342109 0.59 [{'connected_gene': 'LOC102723324', 'score': 12.6}, {'connected_gene': 'STOM', 'score': 12.58}, {'connected_gene': 'GSN', 'score': 11.23}, {'connected_gene': 'GSN-AS1', 'score': 11.11}, {'connected_gene': 'ENSG00000239593', 'score': 11.1}, {'connected_gene': 'CUTALP', 'score': 9.87}, {'connected_gene': 'GGTA1P', 'score': 6.19}, {'connected_gene': 'TRAF1', 'score': 4.74}, {'connected_gene': 'PIR41790', 'score': 0.39}]
chr9 GH09I120852 120851443 120851592 0.51 [{'connected_gene': 'PIR56908', 'score': 550.77}, {'connected_gene': 'GC09P120852', 'score': 550.77}, {'connected_gene': 'TRAF1', 'score': 10.88}, {'connected_gene': 'PIR34779', 'score': 0.44}, {'connected_gene': 'GC09P120844', 'score': 0.44}, {'connected_gene': 'CUTALP', 'score': 0.31}]
chr9 GH09I120851 120851594 120852945 0.51 [{'connected_gene': 'PIR56908', 'score': 550.77}, {'connected_gene': 'GC09P120852', 'score': 550.77}, {'connected_gene': 'PSMD5', 'score': 11.18}, {'connected_gene': 'TRAF1', 'score': 10.88}, {'connected_gene': 'PIR42449', 'score': 0.77}, {'connected_gene': 'CUTALP', 'score': 0.31}]
chr9 GH09I121606 121606957 121610942 1.35 [{'connected_gene': 'ENSG00000229854', 'score': 12.29}, {'connected_gene': 'DAB2IP', 'score': 11.94}, {'connected_gene': 'PSMD5', 'score': 10.72}, {'connected_gene': 'MRRF', 'score': 10.45}, {'connected_gene': 'TRAF1', 'score': 4.17}, {'connected_gene': 'LOC105376257', 'score': 0.13}]

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