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
ENST00000357085 [[25963029, 25963083], [25963276, 25963510], [25966562, 25967161], [25969552, 25969648], [25972096, 25972327], [25973281, 25973304], [25973400, 25973513], [25983391, 25987384]] [[25966750, 25967161], [25969552, 25969648], [25972096, 25972327], [25973281, 25973304], [25973400, 25973513], [25983391, 25983915]]
ENST00000349458 [[25963274, 25963510], [25966562, 25967161], [25969552, 25969648], [25972096, 25972327], [25973281, 25973304], [25973400, 25973513], [25983391, 25985348]] [[25966750, 25967161], [25969552, 25969648], [25972096, 25972327], [25973281, 25973304], [25973400, 25973513], [25983391, 25983915]]
NM_006355 [[25962916, 25963083], [25963276, 25963510], [25966562, 25967161], [25969552, 25969648], [25972096, 25972327], [25973281, 25973304], [25973400, 25973513], [25983391, 25987557]] [[25966750, 25967161], [25969552, 25969648], [25972096, 25972327], [25973281, 25973304], [25973400, 25973513], [25983391, 25983915]]
Promoter
Chrom Start End Description
chr6 25963000 25963012 CAGE_peak_3_at_TRIM38_5end
chr6 25963020 25963051 CAGE_peak_1_at_TRIM38_5end
chr6 25963052 25963067 CAGE_peak_2_at_TRIM38_5end
chr6 25966448 25966461 CAGE_peak_7_at_TRIM38_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr6 GH06I025025 25025898 25028820 1.31 [{'connected_gene': 'CMAHP', 'score': 10.88}, {'connected_gene': 'TRIM38', 'score': 9.93}, {'connected_gene': 'RIPOR2', 'score': 6.92}, {'connected_gene': 'RN7SL334P', 'score': 0.77}, {'connected_gene': 'ASS1P1', 'score': 0.77}, {'connected_gene': 'LOC102724765', 'score': 0.44}, {'connected_gene': 'ENSG00000272053', 'score': 0.39}]
chr6 GH06I025974 25974053 25974202 1.09 [{'connected_gene': 'HIST1H4C', 'score': 9.28}, {'connected_gene': 'GC06P025976', 'score': 0.77}, {'connected_gene': 'TRIM38', 'score': 0.39}, {'connected_gene': 'GC06P025915', 'score': 0.22}]
chr6 GH06I026019 26019466 26035706 2.69 [{'connected_gene': 'HIST1H3A', 'score': 552.19}, {'connected_gene': 'HIST1H3B', 'score': 550.77}, {'connected_gene': 'HIST1H4B', 'score': 550.77}, {'connected_gene': 'HIST1H2AB', 'score': 550.44}, {'connected_gene': 'HIST1H4A', 'score': 550.44}, {'connected_gene': 'ABT1', 'score': 79.41}, {'connected_gene': 'HMGN4', 'score': 60.22}, {'connected_gene': 'BTN2A1', 'score': 59.84}, {'connected_gene': 'BTN2A3P', 'score': 52.04}, {'connected_gene': 'BTN2A2', 'score': 39.7}, {'connected_gene': 'ENSG00000272462', 'score': 31.49}, {'connected_gene': 'BTN3A2', 'score': 27.46}, {'connected_gene': 'NUP50P2', 'score': 22.38}, {'connected_gene': 'BTN3A1', 'score': 22.22}, {'connected_gene': 'HIST1H1C', 'score': 21.11}, {'connected_gene': 'BTN3A3', 'score': 19.26}, {'connected_gene': 'ZNF322', 'score': 12.22}, {'connected_gene': 'HIST1H2APS5', 'score': 11.61}, {'connected_gene': 'LINC00240', 'score': 10.54}, {'connected_gene': 'HIST1H1D', 'score': 10.37}, {'connected_gene': 'HIST1H4C', 'score': 10.02}, {'connected_gene': 'TRIM38', 'score': 9.12}, {'connected_gene': 'HFE', 'score': 7.17}, {'connected_gene': 'HIST1H1E', 'score': 2.13}, {'connected_gene': 'HIST1H2BD', 'score': 1.38}, {'connected_gene': 'GC06P026025', 'score': 0.44}, {'connected_gene': 'GC06P026024', 'score': 0.44}, {'connected_gene': 'GC06M026034', 'score': 0.44}, {'connected_gene': 'GC06P025915', 'score': 0.14}]
chr6 GH06I026341 26341401 26342979 1.51 [{'connected_gene': 'ABT1', 'score': 66.99}, {'connected_gene': 'BTN2A3P', 'score': 51.11}, {'connected_gene': 'ZNF322', 'score': 48.49}, {'connected_gene': 'BTN2A2', 'score': 41.14}, {'connected_gene': 'HMGN4', 'score': 40.75}, {'connected_gene': 'BTN3A2', 'score': 33.33}, {'connected_gene': 'BTN2A1', 'score': 30.29}, {'connected_gene': 'GUSBP2', 'score': 20.57}, {'connected_gene': 'TRIM38', 'score': 19.66}, {'connected_gene': 'HIST1H1D', 'score': 14.44}, {'connected_gene': 'HCG11', 'score': 9.99}, {'connected_gene': 'BTN3A1', 'score': 7.12}, {'connected_gene': 'HIST1H2AH', 'score': 6.43}, {'connected_gene': 'LOC101928743', 'score': 0.39}]
chr6 GH06I026594 26594201 26598459 2.14 [{'connected_gene': 'ABT1', 'score': 590.02}, {'connected_gene': 'TRY-GTA6-1', 'score': 550.77}, {'connected_gene': 'BTN3A2', 'score': 27.71}, {'connected_gene': 'BTN2A3P', 'score': 25.6}, {'connected_gene': 'ZNF322', 'score': 24.26}, {'connected_gene': 'LINC00240', 'score': 23.52}, {'connected_gene': 'BTN2A2', 'score': 22.59}, {'connected_gene': 'HMGN4', 'score': 21.06}, {'connected_gene': 'BTN2A1', 'score': 20.99}, {'connected_gene': 'LOC102724851', 'score': 11.51}, {'connected_gene': 'TRIM38', 'score': 11.09}, {'connected_gene': 'BTN3A1', 'score': 10.87}, {'connected_gene': 'BTN3A3', 'score': 10.58}, {'connected_gene': 'GC06M026670', 'score': 0.44}]
chr6 GH06I025958 25958667 25965176 2.24 [{'connected_gene': 'TRIM38', 'score': 561.52}, {'connected_gene': 'ENSG00000272462', 'score': 29.55}, {'connected_gene': 'ABT1', 'score': 15.98}, {'connected_gene': 'NUP50P2', 'score': 12.25}, {'connected_gene': 'HMGN4', 'score': 10.87}, {'connected_gene': 'BTN2A3P', 'score': 10.28}, {'connected_gene': 'BTN3A2', 'score': 9.99}, {'connected_gene': 'BTN2A1', 'score': 9.8}, {'connected_gene': 'SLC17A4', 'score': 9.54}, {'connected_gene': 'SLC17A2', 'score': 0.29}, {'connected_gene': 'GC06P025915', 'score': 0.25}]
chr6 GH06I025968 25968853 25969002 0.57 [{'connected_gene': 'TRIM38', 'score': 0.44}, {'connected_gene': 'GC06P025976', 'score': 0.44}, {'connected_gene': 'GC06P025915', 'score': 0.23}]
chr6 GH06I026534 26534559 26539589 2.55 [{'connected_gene': 'HMGN4', 'score': 568.4}, {'connected_gene': 'TRR-ACG1-2', 'score': 550.77}, {'connected_gene': 'PIR54163', 'score': 550.77}, {'connected_gene': 'TRV-CAC1-6', 'score': 550.77}, {'connected_gene': 'LOC102724851', 'score': 30.85}, {'connected_gene': 'BTN3A2', 'score': 28.84}, {'connected_gene': 'ZNF391', 'score': 21.88}, {'connected_gene': 'BTN2A1', 'score': 13.13}, {'connected_gene': 'ZNF322', 'score': 12.96}, {'connected_gene': 'ENSG00000271755', 'score': 11.65}, {'connected_gene': 'TRIM38', 'score': 11.09}, {'connected_gene': 'ZNF204P', 'score': 11.07}, {'connected_gene': 'LINC00240', 'score': 5.25}, {'connected_gene': 'BTN3A3', 'score': 4.45}, {'connected_gene': 'TRT-AGT2-1', 'score': 0.77}, {'connected_gene': 'GC06M026657', 'score': 0.77}]
chr6 GH06I026382 26382283 26384450 2.03 [{'connected_gene': 'BTN2A2', 'score': 626.52}, {'connected_gene': 'ABT1', 'score': 66.98}, {'connected_gene': 'HMGN4', 'score': 38.4}, {'connected_gene': 'BTN2A1', 'score': 35.43}, {'connected_gene': 'BTN2A3P', 'score': 32.58}, {'connected_gene': 'BTN3A1', 'score': 22.02}, {'connected_gene': 'TRIM38', 'score': 19.66}, {'connected_gene': 'GUSBP2', 'score': 19.18}, {'connected_gene': 'BTN3A2', 'score': 10.52}, {'connected_gene': 'ZNF391', 'score': 10.22}, {'connected_gene': 'HIST1H1D', 'score': 10.18}]
chr6 GH06I026042 26042477 26047182 2.2 [{'connected_gene': 'HIST1H2APS5', 'score': 560.12}, {'connected_gene': 'GC06P026043', 'score': 550.77}, {'connected_gene': 'HIST1H2BB', 'score': 550.77}, {'connected_gene': 'HIST1H3C', 'score': 550.77}, {'connected_gene': 'GC06P026059', 'score': 550.77}, {'connected_gene': 'ENSG00000272462', 'score': 70.35}, {'connected_gene': 'HMGN4', 'score': 22.17}, {'connected_gene': 'ABT1', 'score': 19.55}, {'connected_gene': 'BTN3A2', 'score': 15.42}, {'connected_gene': 'BTN2A1', 'score': 14.33}, {'connected_gene': 'BTN2A3P', 'score': 12.15}, {'connected_gene': 'ZNF322', 'score': 11.71}, {'connected_gene': 'BTN2A2', 'score': 10.26}, {'connected_gene': 'HIST1H1C', 'score': 9.67}, {'connected_gene': 'HFE', 'score': 7.37}, {'connected_gene': 'TRIM38', 'score': 4.26}, {'connected_gene': 'GC06P025915', 'score': 0.13}]
chr6 GH06I025980 25980681 25982601 0.77 [{'connected_gene': 'SLC17A4', 'score': 9.23}, {'connected_gene': 'HIST1H4C', 'score': 9.11}, {'connected_gene': 'GC06P025976', 'score': 0.44}, {'connected_gene': 'ENSG00000272462', 'score': 0.39}, {'connected_gene': 'TRIM38', 'score': 0.37}, {'connected_gene': 'GC06P025915', 'score': 0.2}]
chr6 GH06I026593 26593653 26594000 1.13 [{'connected_gene': 'TRY-GTA6-1', 'score': 550.77}, {'connected_gene': 'LOC102724851', 'score': 25.08}, {'connected_gene': 'ZNF322', 'score': 16.01}, {'connected_gene': 'GUSBP2', 'score': 11.06}, {'connected_gene': 'TRIM38', 'score': 9.93}, {'connected_gene': 'BTN2A3P', 'score': 9.9}, {'connected_gene': 'GC06M026670', 'score': 0.44}, {'connected_gene': 'PIR38028', 'score': 0.37}]
chr6 GH06I026303 26303339 26306153 1.46 [{'connected_gene': 'TRS-GCT6-1', 'score': 550.77}, {'connected_gene': 'ABT1', 'score': 21.11}, {'connected_gene': 'HIST1H3E', 'score': 17.52}, {'connected_gene': 'ZNF322', 'score': 15.05}, {'connected_gene': 'HIST1H2APS4', 'score': 11.94}, {'connected_gene': 'HIST1H3G', 'score': 11.94}, {'connected_gene': 'BTN2A2', 'score': 11.56}, {'connected_gene': 'TRIM38', 'score': 11.11}, {'connected_gene': 'HIST1H2APS3', 'score': 10.95}, {'connected_gene': 'HIST1H4G', 'score': 10.34}, {'connected_gene': 'BTN2A1', 'score': 10.33}, {'connected_gene': 'HMGN4', 'score': 10.3}, {'connected_gene': 'HIST1H2BE', 'score': 10.24}, {'connected_gene': 'LARP1P1', 'score': 10.23}, {'connected_gene': 'BTN2A3P', 'score': 10.08}, {'connected_gene': 'BTN1A1', 'score': 9.56}, {'connected_gene': 'HIST1H4H', 'score': 8.26}, {'connected_gene': 'HIST1H1D', 'score': 4.89}, {'connected_gene': 'BTN3A2', 'score': 4.89}, {'connected_gene': 'TRR-TCG4-1', 'score': 0.44}]
chr6 GH06I026170 26169332 26174630 1.74 [{'connected_gene': 'ENSG00000283064', 'score': 550.77}, {'connected_gene': 'HIST1H2BE', 'score': 550.77}, {'connected_gene': 'BTN3A2', 'score': 11.79}, {'connected_gene': 'TRIM38', 'score': 11.14}, {'connected_gene': 'HIST1H2BD', 'score': 9.6}, {'connected_gene': 'ENSG00000272462', 'score': 9.28}, {'connected_gene': 'HIST1H2AE', 'score': 5.46}, {'connected_gene': 'HIST1H3E', 'score': 4.95}, {'connected_gene': 'LOC102724851', 'score': 4.16}, {'connected_gene': 'GC06P027078', 'score': 0.44}]
chr6 GH06I025498 25497490 25497599 0.34 [{'connected_gene': 'GC06M025494', 'score': 550.77}, {'connected_gene': 'CARMIL1', 'score': 11.03}, {'connected_gene': 'RPL21P68', 'score': 10.78}, {'connected_gene': 'LOC101928663', 'score': 10.78}, {'connected_gene': 'TRIM38', 'score': 1.86}, {'connected_gene': 'GC06M025592', 'score': 0.15}]
chr6 GH06I025991 25991157 25994068 2.16 [{'connected_gene': 'ENSG00000272462', 'score': 622.4}, {'connected_gene': 'BTN3A2', 'score': 15.84}, {'connected_gene': 'HIST1H1C', 'score': 9.56}, {'connected_gene': 'ENSG00000272558', 'score': 0.44}, {'connected_gene': 'GC06P025976', 'score': 0.37}, {'connected_gene': 'TRIM38', 'score': 0.31}, {'connected_gene': 'GC06P025915', 'score': 0.18}]
chr6 GH06I025983 25983729 25986911 0.58 [{'connected_gene': 'ENSG00000272462', 'score': 30.07}, {'connected_gene': 'BTN3A2', 'score': 15.83}, {'connected_gene': 'GC06P025976', 'score': 0.44}, {'connected_gene': 'ENSG00000272558', 'score': 0.39}, {'connected_gene': 'TRIM38', 'score': 0.34}, {'connected_gene': 'GC06P025915', 'score': 0.19}]
chr6 GH06I025952 25952004 25953845 0.66 [{'connected_gene': 'ENSG00000272462', 'score': 26.87}, {'connected_gene': 'TRIM38', 'score': 11.19}, {'connected_gene': 'SLC17A2', 'score': 0.34}, {'connected_gene': 'GC06P025915', 'score': 0.28}]
chr6 GH06I025970 25970425 25972590 1.31 [{'connected_gene': 'ENSG00000272462', 'score': 10.44}, {'connected_gene': 'TRIM38', 'score': 0.44}, {'connected_gene': 'GC06P025976', 'score': 0.44}, {'connected_gene': 'GC06P025915', 'score': 0.22}]
chr6 GH06I026309 26309392 26314289 1.53 [{'connected_gene': 'GC06M026658', 'score': 550.77}, {'connected_gene': 'TRX-CAT1-3', 'score': 550.77}, {'connected_gene': 'TRS-TGA3-1', 'score': 550.77}, {'connected_gene': 'TRQ-TTG3-1', 'score': 550.77}, {'connected_gene': 'TRQ-TTG3-2', 'score': 550.77}, {'connected_gene': 'ABT1', 'score': 30.66}, {'connected_gene': 'ZNF322', 'score': 24.36}, {'connected_gene': 'BTN2A2', 'score': 21.35}, {'connected_gene': 'BTN2A1', 'score': 20.61}, {'connected_gene': 'BTN3A2', 'score': 20.01}, {'connected_gene': 'HIST1H4H', 'score': 19.68}, {'connected_gene': 'HIST1H3E', 'score': 17.09}, {'connected_gene': 'GUSBP2', 'score': 13.89}, {'connected_gene': 'LOC102724851', 'score': 12.04}, {'connected_gene': 'HIST1H2APS4', 'score': 11.51}, {'connected_gene': 'HIST1H3G', 'score': 11.49}, {'connected_gene': 'TRIM38', 'score': 11.12}, {'connected_gene': 'HIST1H2APS3', 'score': 10.75}, {'connected_gene': 'RPS10P1', 'score': 10.51}, {'connected_gene': 'HIST1H2AD', 'score': 10.5}, {'connected_gene': 'HIST1H3D', 'score': 10.5}, {'connected_gene': 'HIST1H2BF', 'score': 10.5}, {'connected_gene': 'HIST1H2BE', 'score': 10.42}, {'connected_gene': 'LARP1P1', 'score': 10.41}, {'connected_gene': 'HMGN4', 'score': 10.3}, {'connected_gene': 'BTN2A3P', 'score': 10.1}, {'connected_gene': 'HIST1H4G', 'score': 10.05}, {'connected_gene': 'BTN1A1', 'score': 9.95}, {'connected_gene': 'BTN3A1', 'score': 7.31}]

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