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
ENST00000495842 [[101498045, 101498168], [101498577, 101498744], [101500953, 101501134], [101501503, 101501624], [101504245, 101504450]] [[101504440, 101504450]]
ENST00000273347 [[101498073, 101498168], [101500953, 101501134], [101501503, 101501624], [101504245, 101504533], [101520078, 101520833], [101525896, 101525970], [101535638, 101535845], [101540247, 101542467]] [[101504440, 101504533], [101520078, 101520833], [101525896, 101525970], [101535638, 101535845], [101540247, 101540798]]
ENST00000474165 [[101498089, 101498168], [101498577, 101498778], [101500953, 101501134], [101501503, 101501624], [101504245, 101504533], [101520078, 101520144]] [[101504440, 101504533], [101520078, 101520144]]
ENST00000491511 [[101498285, 101498744], [101500953, 101501134], [101501503, 101501624], [101504245, 101504533], [101520078, 101520833], [101525896, 101525970], [101535638, 101535845], [101540247, 101546236]] [[101504440, 101504533], [101520078, 101520833], [101525896, 101525970], [101535638, 101535845], [101540247, 101540798]]
ENST00000487830 [[101498338, 101498778], [101500953, 101501133]] None
ENST00000477909 [[101500549, 101501134], [101501503, 101501624], [101504245, 101504533], [101520078, 101520833], [101525896, 101525970], [101535638, 101535845], [101540247, 101541667]] [[101504440, 101504533], [101520078, 101520833], [101525896, 101525970], [101535638, 101535845], [101540247, 101540798]]
ENST00000422132 [[101504243, 101504533], [101520078, 101520833], [101525896, 101525970], [101535638, 101535845], [101540247, 101547073]] [[101504440, 101504533], [101520078, 101520833], [101525896, 101525970], [101535638, 101535845], [101540247, 101540798]]
NM_145037 [[101498028, 101498168], [101500953, 101501134], [101501503, 101501624], [101504245, 101504533], [101520078, 101520833], [101525896, 101525970], [101535638, 101535845], [101540247, 101547075]] [[101504440, 101504533], [101520078, 101520833], [101525896, 101525970], [101535638, 101535845], [101540247, 101540798]]
NM_001134456 [[101498285, 101498744], [101500953, 101501134], [101501503, 101501624], [101504245, 101504533], [101520078, 101520833], [101525896, 101525970], [101535638, 101535845], [101540247, 101547075]] [[101504440, 101504533], [101520078, 101520833], [101525896, 101525970], [101535638, 101535845], [101540247, 101540798]]
Promoter
Chrom Start End Description
chr3 101498026 101498067 CAGE_peak_1_at_FAM55C_5end
chr3 101498075 101498102 CAGE_peak_3_at_FAM55C_5end
chr3 101498269 101498341 CAGE_peak_4_at_FAM55C_5end
chr3 101498482 101498540 CAGE_peak_2_at_FAM55C_5end
chr3 101504030 101504047 CAGE_peak_12_at_FAM55C_5end
chr3 101504175 101504196 CAGE_peak_7_at_FAM55C_5end
chr3 101504200 101504211 CAGE_peak_13_at_FAM55C_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr3 GH03I101778 101778309 101781742 2.17 [{'connected_gene': 'NXPE3', 'score': 577.24}, {'connected_gene': 'CEP97', 'score': 11.22}, {'connected_gene': 'RPL24', 'score': 10.89}, {'connected_gene': 'SENP7', 'score': 5.53}, {'connected_gene': 'ENSG00000249474', 'score': 0.26}]
chr3 GH03I101767 101767337 101770404 0.31 [{'connected_gene': 'NXPE3', 'score': 19.91}, {'connected_gene': 'CEP97', 'score': 11.93}, {'connected_gene': 'RPL24', 'score': 10.99}, {'connected_gene': 'ABI3BP', 'score': 4.33}]
chr3 GH03I101800 101800871 101802192 0.46 [{'connected_gene': 'NXPE3', 'score': 11.96}, {'connected_gene': 'CEP97', 'score': 10.87}, {'connected_gene': 'RPL24', 'score': 10.86}, {'connected_gene': 'ENSG00000249474', 'score': 0.34}]
chr3 GH03I101793 101793883 101795110 0.2 [{'connected_gene': 'NXPE3', 'score': 19.03}, {'connected_gene': 'CEP97', 'score': 10.88}, {'connected_gene': 'RPL24', 'score': 10.87}, {'connected_gene': 'ENSG00000249474', 'score': 0.29}]
chr3 GH03I101641 101641677 101641826 1.12 [{'connected_gene': 'NXPE3', 'score': 18.47}, {'connected_gene': 'RPL24', 'score': 10.58}, {'connected_gene': 'GC03P101648', 'score': 0.44}, {'connected_gene': 'PIR36650', 'score': 0.44}]
chr3 GH03I101809 101809001 101810917 1.06 [{'connected_gene': 'NXPE3', 'score': 18.98}, {'connected_gene': 'RPL24', 'score': 10.84}, {'connected_gene': 'ENSG00000249474', 'score': 0.37}]
chr3 GH03I101784 101784314 101785915 0.78 [{'connected_gene': 'NXPE3', 'score': 18.2}, {'connected_gene': 'PDCL3P4', 'score': 5.29}, {'connected_gene': 'ENSG00000249474', 'score': 0.28}]
chr3 GH03I102229 102229001 102229600 0.9 [{'connected_gene': 'NXPE3', 'score': 10.25}, {'connected_gene': 'GC03P102210', 'score': 0.34}, {'connected_gene': 'PIR36108', 'score': 0.34}, {'connected_gene': 'GC03P102209', 'score': 0.34}, {'connected_gene': 'ZPLD1', 'score': 0.12}, {'connected_gene': 'GC03M102416', 'score': 0.09}]
chr3 GH03I101813 101813967 101815726 1.15 [{'connected_gene': 'NXPE3', 'score': 18.16}, {'connected_gene': 'ZBTB11-AS1', 'score': 11.76}, {'connected_gene': 'PDCL3P4', 'score': 5.2}, {'connected_gene': 'ENSG00000249474', 'score': 0.39}]
chr3 GH03I101803 101803297 101803526 0.79 [{'connected_gene': 'NXPE3', 'score': 10.98}, {'connected_gene': 'ZBTB11-AS1', 'score': 10.47}, {'connected_gene': 'ZBTB11', 'score': 10.47}, {'connected_gene': 'RPL24', 'score': 10.47}, {'connected_gene': 'ENSG00000249474', 'score': 0.34}]
chr3 GH03I101926 101926388 101927499 0.78 [{'connected_gene': 'NXPE3', 'score': 4.87}, {'connected_gene': 'GC03M101929', 'score': 0.77}, {'connected_gene': 'GC03P101864', 'score': 0.21}]
chr3 GH03I101918 101918892 101919080 0.27 [{'connected_gene': 'NXPE3', 'score': 5.98}, {'connected_gene': 'GC03M101929', 'score': 0.39}, {'connected_gene': 'GC03P101864', 'score': 0.23}]
chr3 GH03I101792 101792037 101792146 0.93 [{'connected_gene': 'NXPE3', 'score': 0.39}, {'connected_gene': 'ENSG00000249474', 'score': 0.29}]
chr3 GH03I101791 101791997 101792030 0.93 [{'connected_gene': 'NXPE3', 'score': 0.39}, {'connected_gene': 'ENSG00000249474', 'score': 0.29}]
chr3 GH03I101819 101819957 101820106 0.83 [{'connected_gene': 'NXPE3', 'score': 17.43}, {'connected_gene': 'ENSG00000249474', 'score': 0.77}]
chr3 GH03I101795 101795601 101796636 0.2 [{'connected_gene': 'CEP97', 'score': 10.88}, {'connected_gene': 'RPL24', 'score': 10.87}, {'connected_gene': 'NXPE3', 'score': 0.37}, {'connected_gene': 'ENSG00000249474', 'score': 0.31}]
chr3 GH03I101723 101723801 101726786 2.48 [{'connected_gene': 'CEP97', 'score': 554.72}, {'connected_gene': 'ZBTB11-AS1', 'score': 21.57}, {'connected_gene': 'NXPE3', 'score': 19.45}, {'connected_gene': 'ZNF90P1', 'score': 10.3}]
chr3 GH03I101825 101825605 101830571 2.5 [{'connected_gene': 'NFKBIZ', 'score': 566.83}, {'connected_gene': 'GC03P101828', 'score': 550.77}, {'connected_gene': 'NXPE3', 'score': 16.12}, {'connected_gene': 'ABI3BP', 'score': 4.74}, {'connected_gene': 'ZBTB11', 'score': 2.19}]
chr3 GH03I101900 101900455 101900571 0.45 [{'connected_gene': 'NFKBIZ', 'score': 19.33}, {'connected_gene': 'ZPLD1', 'score': 10.37}, {'connected_gene': 'NXPE3', 'score': 5.65}, {'connected_gene': 'GC03M101929', 'score': 0.29}, {'connected_gene': 'GC03P101864', 'score': 0.28}]
chr3 GH03I101901 101901589 101903924 1.53 [{'connected_gene': 'NFKBIZ', 'score': 24.45}, {'connected_gene': 'ZPLD1', 'score': 11.24}, {'connected_gene': 'NXPE3', 'score': 5.75}, {'connected_gene': 'GC03M101929', 'score': 0.31}, {'connected_gene': 'GC03P101864', 'score': 0.28}]
chr3 GH03I101898 101898351 101900098 1.48 [{'connected_gene': 'NFKBIZ', 'score': 23.86}, {'connected_gene': 'ZPLD1', 'score': 10.37}, {'connected_gene': 'ZBTB11-AS1', 'score': 5.69}, {'connected_gene': 'NXPE3', 'score': 5.66}, {'connected_gene': 'ZBTB11', 'score': 1.34}, {'connected_gene': 'GC03M101929', 'score': 0.29}, {'connected_gene': 'GC03P101864', 'score': 0.28}]
chr3 GH03I101466 101466601 101467626 1 [{'connected_gene': 'SENP7', 'score': 26.59}, {'connected_gene': 'NXPE3', 'score': 4.5}, {'connected_gene': 'ENSG00000201554', 'score': 0.44}, {'connected_gene': 'GC03M101474', 'score': 0.37}]
chr3 GH03I101511 101511066 101514394 2.41 [{'connected_gene': 'SENP7', 'score': 566.62}, {'connected_gene': 'ZBTB11', 'score': 11.67}, {'connected_gene': 'ZBTB11-AS1', 'score': 7.08}, {'connected_gene': 'NXPE3', 'score': 5.05}, {'connected_gene': 'GC03M101474', 'score': 0.31}]
chr3 GH03I101572 101572698 101576125 2.08 [{'connected_gene': 'PCNP', 'score': 561.62}, {'connected_gene': 'NXPE3', 'score': 13.97}, {'connected_gene': 'SENP7', 'score': 13.41}, {'connected_gene': 'ZBTB11-AS1', 'score': 11.49}, {'connected_gene': 'RPS18P5', 'score': 0.77}]
chr3 GH03I101560 101560917 101563207 2.03 [{'connected_gene': 'TRMT10C', 'score': 550.77}, {'connected_gene': 'SENP7', 'score': 24.84}, {'connected_gene': 'NXPE3', 'score': 12.77}, {'connected_gene': 'RPL24', 'score': 10.09}, {'connected_gene': 'ZBTB11-AS1', 'score': 9.68}, {'connected_gene': 'IMPG2', 'score': 5.85}, {'connected_gene': 'PDCL3P4', 'score': 5.1}, {'connected_gene': 'PCNP', 'score': 0.39}]
chr3 GH03I101683 101683221 101688387 2.37 [{'connected_gene': 'RPL24', 'score': 574.35}, {'connected_gene': 'LOC105374013', 'score': 550.77}, {'connected_gene': 'GC03P101686', 'score': 550.77}, {'connected_gene': 'ZBTB11-AS1', 'score': 42.56}, {'connected_gene': 'SENP7', 'score': 34.15}, {'connected_gene': 'RPS18P5', 'score': 26.94}, {'connected_gene': 'ZNF90P1', 'score': 19.03}, {'connected_gene': 'ZBTB11', 'score': 16.4}, {'connected_gene': 'TFG', 'score': 10.71}, {'connected_gene': 'PDCL3P4', 'score': 10.62}, {'connected_gene': 'NXPE3', 'score': 10.2}, {'connected_gene': 'PCNP', 'score': 2.81}, {'connected_gene': 'TRMT10C', 'score': 1.36}, {'connected_gene': 'NFKBIZ', 'score': 1.32}]
chr3 GH03I101674 101674894 101678546 2.07 [{'connected_gene': 'ZBTB11', 'score': 571.62}, {'connected_gene': 'ZBTB11-AS1', 'score': 556.05}, {'connected_gene': 'NXPE3', 'score': 18.06}, {'connected_gene': 'SENP7', 'score': 17.91}, {'connected_gene': 'CEP97', 'score': 14.78}]
chr3 GH03I101821 101821518 101823146 0.31 [{'connected_gene': 'ABI3BP', 'score': 4.6}, {'connected_gene': 'ENSG00000249474', 'score': 0.77}, {'connected_gene': 'NXPE3', 'score': 0.26}]
chr3 GH03I101818 101818201 101818600 0.51 [{'connected_gene': 'ABI3BP', 'score': 4.76}, {'connected_gene': 'ENSG00000249474', 'score': 0.44}, {'connected_gene': 'NXPE3', 'score': 0.28}]
chr3 GH03I100991 100991413 100994191 1.88 [{'connected_gene': 'ABI3BP', 'score': 556.11}, {'connected_gene': 'PDCL3P4', 'score': 4.65}, {'connected_gene': 'NXPE3', 'score': 4.21}, {'connected_gene': 'RNU6-865P', 'score': 0.26}]
chr3 GH03I101935 101935143 101943250 1.71 [{'connected_gene': 'LINC02085', 'score': 550.77}, {'connected_gene': 'NFKBIZ', 'score': 33.06}, {'connected_gene': 'ZPLD1', 'score': 10.2}, {'connected_gene': 'NXPE3', 'score': 7.55}, {'connected_gene': 'SENP7', 'score': 5.95}, {'connected_gene': 'ZBTB11-AS1', 'score': 5.62}, {'connected_gene': 'ZBTB11', 'score': 1.51}, {'connected_gene': 'GC03M101929', 'score': 0.44}]
chr3 GH03I101613 101613304 101614494 0.38 [{'connected_gene': 'RNU6-1256P', 'score': 550.77}, {'connected_gene': 'NXPE3', 'score': 15.14}, {'connected_gene': 'ZBTB11-AS1', 'score': 10.22}, {'connected_gene': 'RPL32P7', 'score': 0.39}]
chr3 GH03I101195 101195404 101196826 0.85 [{'connected_gene': 'RNU6-865P', 'score': 9.65}, {'connected_gene': 'ZBTB11-AS1', 'score': 9.62}, {'connected_gene': 'SENP7', 'score': 9.24}, {'connected_gene': 'NXPE3', 'score': 4.25}, {'connected_gene': 'ACTR3P3', 'score': 0.29}, {'connected_gene': 'GC03P101264', 'score': 0.2}]
chr3 GH03I101643 101643269 101645033 1.28 [{'connected_gene': 'ZBTB11-AS1', 'score': 24.26}, {'connected_gene': 'RPL24', 'score': 22.97}, {'connected_gene': 'NXPE3', 'score': 17.86}, {'connected_gene': 'SENP7', 'score': 17.15}, {'connected_gene': 'TFG', 'score': 12.43}, {'connected_gene': 'PDCL3P4', 'score': 6.06}, {'connected_gene': 'GC03P101648', 'score': 0.77}, {'connected_gene': 'PIR36650', 'score': 0.44}]
chr3 GH03I101636 101636201 101636401 0.92 [{'connected_gene': 'PIR36650', 'score': 550.77}, {'connected_gene': 'NXPE3', 'score': 18.4}, {'connected_gene': 'SENP7', 'score': 10.01}, {'connected_gene': 'GC03P101648', 'score': 0.39}]
chr3 GH03I101705 101705551 101705872 0.22 [{'connected_gene': 'GC03P101704', 'score': 550.77}, {'connected_gene': 'NXPE3', 'score': 19.45}, {'connected_gene': 'PDCL3P4', 'score': 0.44}, {'connected_gene': 'LOC105374013', 'score': 0.37}]
chr3 GH03I101720 101720639 101723000 0.99 [{'connected_gene': 'GC03P101720', 'score': 550.77}, {'connected_gene': 'GC03P101721', 'score': 550.77}, {'connected_gene': 'NXPE3', 'score': 29.62}, {'connected_gene': 'ZBTB11', 'score': 22.35}, {'connected_gene': 'ZBTB11-AS1', 'score': 15.44}, {'connected_gene': 'RPL24', 'score': 11.62}, {'connected_gene': 'CEP97', 'score': 0.77}]
chr3 GH03I101630 101630525 101631334 0.2 [{'connected_gene': 'PIR53925', 'score': 550.77}, {'connected_gene': 'NXPE3', 'score': 17.58}, {'connected_gene': 'ZBTB11-AS1', 'score': 11.12}, {'connected_gene': 'TRMT10C', 'score': 10.84}, {'connected_gene': 'RPL24', 'score': 10.57}, {'connected_gene': 'ENSG00000212319', 'score': 0.77}, {'connected_gene': 'GC03M101629', 'score': 0.77}]
chr3 GH03I101865 101865718 101866528 0.88 [{'connected_gene': 'GC03P101864', 'score': 550.77}, {'connected_gene': 'NXPE3', 'score': 8.37}, {'connected_gene': 'GC03M101929', 'score': 0.21}]

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