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
ENST00000300291 [[56463044, 56466645], [56468242, 56468357], [56468665, 56468741], [56473568, 56473658], [56480537, 56480601], [56481700, 56481901], [56484998, 56485287]] [[56466623, 56466645], [56468242, 56468357], [56468665, 56468741], [56473568, 56473658], [56480537, 56480601], [56481700, 56481901], [56484998, 56485114]]
ENST00000563860 [[56468238, 56468357], [56468665, 56469124]] None
ENST00000566340 [[56468257, 56468357], [56468665, 56468741], [56473568, 56473658], [56480537, 56480601], [56481700, 56481901], [56486061, 56486111]] [[56468257, 56468357], [56468665, 56468741], [56473568, 56473658], [56480537, 56480601], [56481700, 56481819]]
ENST00000563362 [[56473038, 56473408], [56473568, 56473647]] None
ENST00000568822 [[56473628, 56473658], [56480537, 56480601], [56481700, 56481901], [56483081, 56483171]] [[56473628, 56473658], [56480537, 56480601], [56481700, 56481819]]
ENST00000567110 [[56481559, 56481901], [56484998, 56485263]] None
NM_007006 [[56463047, 56466645], [56468242, 56468357], [56468665, 56468741], [56473568, 56473658], [56480537, 56480601], [56481700, 56481901], [56484998, 56485261]] [[56466623, 56466645], [56468242, 56468357], [56468665, 56468741], [56473568, 56473658], [56480537, 56480601], [56481700, 56481901], [56484998, 56485114]]
Promoter
Chrom Start End Description
chr16 56485228 56485251 CAGE_peak_1_at_NUDT21_5end
chr16 56485257 56485268 CAGE_peak_2_at_NUDT21_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr16 GH16I056930 56930491 56940546 2.32 [{'connected_gene': 'HERPUD1', 'score': 559.75}, {'connected_gene': 'RSPRY1', 'score': 58.79}, {'connected_gene': 'NUDT21', 'score': 40.3}, {'connected_gene': 'NUP93', 'score': 36.46}, {'connected_gene': 'POLR2C', 'score': 21.24}, {'connected_gene': 'CETP', 'score': 11.83}, {'connected_gene': 'SLC12A3', 'score': 11.45}, {'connected_gene': 'LOC105371286', 'score': 11.14}, {'connected_gene': 'ENSG00000261270', 'score': 11.1}, {'connected_gene': 'NLRC5', 'score': 10.96}, {'connected_gene': 'ENSG00000272372', 'score': 10.75}, {'connected_gene': 'ARL2BP', 'score': 10.1}, {'connected_gene': 'FAM192A', 'score': 9.51}]
chr16 GH16I056964 56964149 56966639 1.22 [{'connected_gene': 'RSPRY1', 'score': 98.79}, {'connected_gene': 'NLRC5', 'score': 39.87}, {'connected_gene': 'NUDT21', 'score': 24.9}, {'connected_gene': 'POLR2C', 'score': 18.23}, {'connected_gene': 'HERPUD1', 'score': 11.4}, {'connected_gene': 'LOC105371286', 'score': 10.83}, {'connected_gene': 'FAM192A', 'score': 10.2}, {'connected_gene': 'BBS2', 'score': 10.12}, {'connected_gene': 'CETP', 'score': 0.77}, {'connected_gene': 'GC16M056955', 'score': 0.77}, {'connected_gene': 'GC16M056973', 'score': 0.39}]
chr16 GH16I057184 57184496 57189131 2.27 [{'connected_gene': 'RSPRY1', 'score': 573.78}, {'connected_gene': 'FAM192A', 'score': 571.47}, {'connected_gene': 'NUP93', 'score': 18.42}, {'connected_gene': 'PLLP', 'score': 16.23}, {'connected_gene': 'NUDT21', 'score': 9.76}, {'connected_gene': 'ARL2BP', 'score': 0.22}]
chr16 GH16I057049 57049863 57050623 0.74 [{'connected_gene': 'NLRC5', 'score': 15.58}, {'connected_gene': 'RSPRY1', 'score': 12.19}, {'connected_gene': 'HERPUD1', 'score': 10.43}, {'connected_gene': 'NUDT21', 'score': 10.14}, {'connected_gene': 'POLR2C', 'score': 10.09}, {'connected_gene': 'MIR138-2', 'score': 9.75}, {'connected_gene': 'GC16P057053', 'score': 0.77}, {'connected_gene': 'GC16P057038', 'score': 0.39}]
chr16 GH16I056988 56988138 56992398 1.71 [{'connected_gene': 'NLRC5', 'score': 565.9}, {'connected_gene': 'NUDT21', 'score': 22.09}, {'connected_gene': 'GC16M057013', 'score': 0.34}]
chr16 GH16I057136 57136719 57139032 0.38 [{'connected_gene': 'FAM192A', 'score': 21.52}, {'connected_gene': 'NUDT21', 'score': 12.22}, {'connected_gene': 'PLLP', 'score': 11.95}, {'connected_gene': 'RSPRY1', 'score': 11.19}, {'connected_gene': 'LOC105371289', 'score': 0.77}, {'connected_gene': 'ENSG00000279803', 'score': 0.77}, {'connected_gene': 'CPNE2', 'score': 0.25}]
chr16 GH16I057394 57394169 57395019 0.92 [{'connected_gene': 'CCL17', 'score': 555.98}, {'connected_gene': 'NUDT21', 'score': 20.29}, {'connected_gene': 'CX3CL1', 'score': 12.76}, {'connected_gene': 'CCL22', 'score': 12.7}, {'connected_gene': 'PLLP', 'score': 11.12}, {'connected_gene': 'CNGB1', 'score': 9.37}, {'connected_gene': 'ADGRG1', 'score': 1.35}, {'connected_gene': 'GC16M057389', 'score': 0.77}]
chr16 GH16I056383 56382760 56383604 0.8 [{'connected_gene': 'BBS2', 'score': 36.16}, {'connected_gene': 'OGFOD1', 'score': 32.6}, {'connected_gene': 'RSPRY1', 'score': 12.88}, {'connected_gene': 'NUP93', 'score': 11.05}, {'connected_gene': 'NUDT21', 'score': 10.52}, {'connected_gene': 'MT4', 'score': 6.97}, {'connected_gene': 'GC16M056362', 'score': 0.37}, {'connected_gene': 'PIR40925', 'score': 0.37}, {'connected_gene': 'AMFR', 'score': 0.26}]
chr16 GH16I056518 56518089 56521014 2.15 [{'connected_gene': 'BBS2', 'score': 588.38}, {'connected_gene': 'OGFOD1', 'score': 19.88}, {'connected_gene': 'MT3', 'score': 11.27}, {'connected_gene': 'MT1G', 'score': 10.5}, {'connected_gene': 'MT1H', 'score': 10.49}, {'connected_gene': 'MT1A', 'score': 10.47}, {'connected_gene': 'NUDT21', 'score': 10.28}, {'connected_gene': 'MT4', 'score': 7.56}, {'connected_gene': 'ENSG00000274031', 'score': 0.23}]
chr16 GH16I056476 56476101 56477967 0.66 [{'connected_gene': 'BBS2', 'score': 38.89}, {'connected_gene': 'OGFOD1', 'score': 31.4}, {'connected_gene': 'NUDT21', 'score': 11.32}, {'connected_gene': 'MT4', 'score': 7.48}, {'connected_gene': 'ENSG00000274031', 'score': 0.39}]
chr16 GH16I056341 56341408 56342675 0.2 [{'connected_gene': 'BBS2', 'score': 19.85}, {'connected_gene': 'OGFOD1', 'score': 9.97}, {'connected_gene': 'NUDT21', 'score': 9.97}, {'connected_gene': 'ENSG00000272372', 'score': 0.39}, {'connected_gene': 'GC16M056301', 'score': 0.34}, {'connected_gene': 'GNAO1', 'score': 0.1}]
chr16 GH16I056539 56539544 56541368 0.89 [{'connected_gene': 'BBS2', 'score': 24.91}, {'connected_gene': 'MT3', 'score': 11.49}, {'connected_gene': 'MT1X', 'score': 10.54}, {'connected_gene': 'MT1A', 'score': 10.18}, {'connected_gene': 'MT1G', 'score': 9.99}, {'connected_gene': 'MT1H', 'score': 9.99}, {'connected_gene': 'MT1F', 'score': 9.85}, {'connected_gene': 'OGFOD1', 'score': 8.65}, {'connected_gene': 'MT4', 'score': 8.44}, {'connected_gene': 'NUDT21', 'score': 8.33}]
chr16 GH16I057416 57416107 57419785 1.18 [{'connected_gene': 'CIAPIN1', 'score': 15.43}, {'connected_gene': 'NUDT21', 'score': 12.22}, {'connected_gene': 'CX3CL1', 'score': 11.84}, {'connected_gene': 'CCL22', 'score': 11.81}, {'connected_gene': 'PLLP', 'score': 11.76}, {'connected_gene': 'POLR2C', 'score': 11.37}, {'connected_gene': 'ARL2BP', 'score': 10.87}, {'connected_gene': 'GC16P057430', 'score': 0.39}, {'connected_gene': 'CCL17', 'score': 0.34}]
chr16 GH16I056509 56509463 56511951 0.31 [{'connected_gene': 'OGFOD1', 'score': 30.19}, {'connected_gene': 'MT3', 'score': 11.25}, {'connected_gene': 'NUDT21', 'score': 10.57}, {'connected_gene': 'MT1G', 'score': 10.49}, {'connected_gene': 'MT1H', 'score': 10.49}, {'connected_gene': 'MT1A', 'score': 10.47}, {'connected_gene': 'MT1X', 'score': 10.36}, {'connected_gene': 'BBS2', 'score': 6.87}, {'connected_gene': 'ENSG00000274031', 'score': 0.26}]
chr16 GH16I056355 56355989 56358399 1.42 [{'connected_gene': 'OGFOD1', 'score': 21.94}, {'connected_gene': 'NUDT21', 'score': 10.13}, {'connected_gene': 'MT4', 'score': 4.5}, {'connected_gene': 'ENSG00000272372', 'score': 0.77}, {'connected_gene': 'GC16M056362', 'score': 0.44}, {'connected_gene': 'GNAO1', 'score': 0.1}]
chr16 GH16I056350 56350842 56352006 0.49 [{'connected_gene': 'OGFOD1', 'score': 9.98}, {'connected_gene': 'NUDT21', 'score': 9.98}, {'connected_gene': 'MT4', 'score': 6.39}, {'connected_gene': 'ENSG00000272372', 'score': 0.77}, {'connected_gene': 'GC16M056301', 'score': 0.29}, {'connected_gene': 'GNAO1', 'score': 0.1}]
chr16 GH16I056370 56370310 56371845 0.73 [{'connected_gene': 'OGFOD1', 'score': 31.6}, {'connected_gene': 'NUDT21', 'score': 9.95}, {'connected_gene': 'MT4', 'score': 6.79}, {'connected_gene': 'GC16M056362', 'score': 0.44}, {'connected_gene': 'PIR40925', 'score': 0.29}, {'connected_gene': 'AMFR', 'score': 0.23}]
chr16 GH16I056475 56475349 56475498 0.38 [{'connected_gene': 'OGFOD1', 'score': 11.32}, {'connected_gene': 'NUDT21', 'score': 11.32}, {'connected_gene': 'ENSG00000274031', 'score': 0.44}, {'connected_gene': 'BBS2', 'score': 0.26}]
chr16 GH16I056344 56344149 56344298 0.76 [{'connected_gene': 'OGFOD1', 'score': 9.97}, {'connected_gene': 'NUDT21', 'score': 9.97}, {'connected_gene': 'ENSG00000272372', 'score': 0.44}, {'connected_gene': 'GC16M056301', 'score': 0.31}, {'connected_gene': 'GNAO1', 'score': 0.1}]
chr16 GH16I056346 56346444 56350610 0.43 [{'connected_gene': 'OGFOD1', 'score': 16.87}, {'connected_gene': 'NUDT21', 'score': 9.98}, {'connected_gene': 'AMFR', 'score': 7.47}, {'connected_gene': 'MT4', 'score': 7.39}, {'connected_gene': 'BBS2', 'score': 5.14}, {'connected_gene': 'ENSG00000272372', 'score': 0.77}, {'connected_gene': 'GC16M056301', 'score': 0.29}, {'connected_gene': 'GNAO1', 'score': 0.1}]
chr16 GH16I056382 56382619 56382738 0.73 [{'connected_gene': 'OGFOD1', 'score': 10.52}, {'connected_gene': 'NUDT21', 'score': 10.52}, {'connected_gene': 'PIR40925', 'score': 0.37}, {'connected_gene': 'GC16M056362', 'score': 0.37}, {'connected_gene': 'AMFR', 'score': 0.26}]
chr16 GH16I056388 56388689 56390649 0.43 [{'connected_gene': 'OGFOD1', 'score': 10.16}, {'connected_gene': 'NUDT21', 'score': 10.16}, {'connected_gene': 'PIR40925', 'score': 0.39}, {'connected_gene': 'GC16M056362', 'score': 0.31}, {'connected_gene': 'AMFR', 'score': 0.28}]
chr16 GH16I056419 56419389 56419538 0.43 [{'connected_gene': 'OGFOD1', 'score': 11.69}, {'connected_gene': 'NUDT21', 'score': 11.69}, {'connected_gene': 'GC16M056424', 'score': 0.77}, {'connected_gene': 'PIR43832', 'score': 0.77}, {'connected_gene': 'PIR52158', 'score': 0.44}, {'connected_gene': 'AMFR', 'score': 0.44}]
chr16 GH16I056359 56359681 56361212 0.43 [{'connected_gene': 'OGFOD1', 'score': 34.91}, {'connected_gene': 'NUDT21', 'score': 10.13}, {'connected_gene': 'GC16M056362', 'score': 0.77}, {'connected_gene': 'ENSG00000272372', 'score': 0.44}]
chr16 GH16I056514 56514009 56514178 0.89 [{'connected_gene': 'MT3', 'score': 11.26}, {'connected_gene': 'MT1G', 'score': 10.49}, {'connected_gene': 'MT1H', 'score': 10.49}, {'connected_gene': 'MT1A', 'score': 10.47}, {'connected_gene': 'OGFOD1', 'score': 10.29}, {'connected_gene': 'NUDT21', 'score': 10.29}, {'connected_gene': 'BBS2', 'score': 0.44}, {'connected_gene': 'ENSG00000274031', 'score': 0.25}]
chr16 GH16I056516 56516148 56516335 0.57 [{'connected_gene': 'MT3', 'score': 27.63}, {'connected_gene': 'GNAO1', 'score': 12.35}, {'connected_gene': 'MT1G', 'score': 10.49}, {'connected_gene': 'MT1H', 'score': 10.49}, {'connected_gene': 'MT1A', 'score': 10.47}, {'connected_gene': 'OGFOD1', 'score': 10.29}, {'connected_gene': 'NUDT21', 'score': 10.29}, {'connected_gene': 'BBS2', 'score': 8.38}, {'connected_gene': 'MT1M', 'score': 1.45}, {'connected_gene': 'ENSG00000274031', 'score': 0.23}]
chr16 GH16I056345 56344771 56345528 0.91 [{'connected_gene': 'MMP2', 'score': 10.4}, {'connected_gene': 'OGFOD1', 'score': 9.97}, {'connected_gene': 'NUDT21', 'score': 9.97}, {'connected_gene': 'ENSG00000272372', 'score': 0.44}, {'connected_gene': 'GC16M056301', 'score': 0.31}, {'connected_gene': 'GNAO1', 'score': 0.1}]
chr16 GH16I057349 57349001 57349800 0.94 [{'connected_gene': 'NUDT21', 'score': 13.62}, {'connected_gene': 'CX3CL1', 'score': 5.4}, {'connected_gene': 'CCL22', 'score': 0.44}, {'connected_gene': 'ENSG00000271456', 'score': 0.37}, {'connected_gene': 'GC16M057308', 'score': 0.28}]
chr16 GH16I056450 56450019 56453010 2.04 [{'connected_gene': 'NUDT21', 'score': 584.31}, {'connected_gene': 'OGFOD1', 'score': 572.68}, {'connected_gene': 'BBS2', 'score': 38.85}, {'connected_gene': 'RSPRY1', 'score': 19.54}, {'connected_gene': 'NUP93', 'score': 18.44}, {'connected_gene': 'MT4', 'score': 7.01}]
chr16 GH16I056480 56480688 56482489 0.72 [{'connected_gene': 'NUDT21', 'score': 11.33}, {'connected_gene': 'OGFOD1', 'score': 11.31}, {'connected_gene': 'ENSG00000272372', 'score': 10.97}, {'connected_gene': 'LOC283856', 'score': 10.45}, {'connected_gene': 'MT4', 'score': 7.49}, {'connected_gene': 'ENSG00000274031', 'score': 0.37}, {'connected_gene': 'BBS2', 'score': 0.28}]
chr16 GH16I055672 55672669 55672818 0.38 [{'connected_gene': 'NUDT21', 'score': 16.58}, {'connected_gene': 'MMP2', 'score': 10.33}, {'connected_gene': 'LPCAT2', 'score': 10.33}, {'connected_gene': 'BBS2', 'score': 10.1}, {'connected_gene': 'SLC6A2', 'score': 0.37}, {'connected_gene': 'ENSG00000278928', 'score': 0.29}]
chr16 GH16I057132 57132022 57136616 1 [{'connected_gene': 'LOC105371289', 'score': 550.77}, {'connected_gene': 'FAM192A', 'score': 24.58}, {'connected_gene': 'NUDT21', 'score': 24.04}, {'connected_gene': 'RSPRY1', 'score': 22.5}, {'connected_gene': 'CPNE2', 'score': 13.29}, {'connected_gene': 'POLR2C', 'score': 10.56}, {'connected_gene': 'PLLP', 'score': 8.03}, {'connected_gene': 'GC16P057096', 'score': 0.28}]
chr16 GH16I057298 57298675 57301483 1.52 [{'connected_gene': 'TRL-CAG2-2', 'score': 550.77}, {'connected_gene': 'TRL-CAG2-1', 'score': 550.77}, {'connected_gene': 'RSPRY1', 'score': 26.99}, {'connected_gene': 'POLR2C', 'score': 22.24}, {'connected_gene': 'FAM192A', 'score': 14.45}, {'connected_gene': 'CSNK2A2', 'score': 12.03}, {'connected_gene': 'CCL22', 'score': 11.83}, {'connected_gene': 'CX3CL1', 'score': 11.8}, {'connected_gene': 'ARL2BP', 'score': 11.65}, {'connected_gene': 'CIAPIN1', 'score': 10.87}, {'connected_gene': 'COQ9', 'score': 10.87}, {'connected_gene': 'NUDT21', 'score': 10.59}, {'connected_gene': 'LOC101927556', 'score': 9.73}, {'connected_gene': 'PLLP', 'score': 6.74}, {'connected_gene': 'MT1F', 'score': 5.12}, {'connected_gene': 'GINS3', 'score': 4.98}]
chr16 GH16I056353 56353289 56353438 0.66 [{'connected_gene': 'ENSG00000272372', 'score': 550.77}, {'connected_gene': 'OGFOD1', 'score': 10.13}, {'connected_gene': 'NUDT21', 'score': 10.13}, {'connected_gene': 'AMFR', 'score': 6.21}, {'connected_gene': 'GC16M056301', 'score': 0.28}, {'connected_gene': 'GNAO1', 'score': 0.1}]
chr16 GH16I056407 56407195 56410174 0.77 [{'connected_gene': 'PIR52158', 'score': 550.77}, {'connected_gene': 'ENSG00000260621', 'score': 550.77}, {'connected_gene': 'OGFOD1', 'score': 35.03}, {'connected_gene': 'NUDT21', 'score': 11.56}, {'connected_gene': 'PIR40925', 'score': 0.44}, {'connected_gene': 'AMFR', 'score': 0.37}]
chr16 GH16I057387 57387571 57388833 1.08 [{'connected_gene': 'GC16M057308', 'score': 550.77}, {'connected_gene': 'NUDT21', 'score': 24.01}, {'connected_gene': 'RSPRY1', 'score': 23.16}, {'connected_gene': 'LOC105371286', 'score': 22.41}, {'connected_gene': 'CCL22', 'score': 13.33}, {'connected_gene': 'LOC101927556', 'score': 13.2}, {'connected_gene': 'CIAPIN1', 'score': 11.77}, {'connected_gene': 'POLR2C', 'score': 10.01}, {'connected_gene': 'CFAP20', 'score': 9.93}, {'connected_gene': 'CCL17', 'score': 3.5}, {'connected_gene': 'CX3CL1', 'score': 0.37}]

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