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
ENST00000378364 [[88875746, 88876248], [88876477, 88876556], [88876830, 88876964], [88877957, 88878064], [88878227, 88878352]] [[88876105, 88876248], [88876477, 88876556], [88876830, 88876964], [88877957, 88878064], [88878227, 88878307]]
ENST00000567713 [[88875818, 88875943], [88876830, 88876964], [88877957, 88878064], [88878227, 88878331]] [[88875818, 88875943], [88876830, 88876964], [88877957, 88878064], [88878227, 88878307]]
ENST00000567057 [[88875876, 88876114], [88876477, 88876676]] None
ENST00000426324 [[88875876, 88876114], [88876477, 88876556], [88876830, 88876964], [88877957, 88878064], [88878227, 88878333]] [[88876109, 88876114], [88876477, 88876556], [88876830, 88876964], [88877957, 88878064], [88878227, 88878307]]
ENST00000567391 [[88875876, 88876248], [88876477, 88876556], [88877957, 88878064], [88878227, 88878336]] [[88876551, 88876556], [88877957, 88878064], [88878227, 88878307]]
ENST00000568319 [[88875876, 88876114], [88876477, 88876556], [88877957, 88878064], [88878227, 88878345]] [[88876551, 88876556], [88877957, 88878064], [88878227, 88878307]]
ENST00000563655 [[88875879, 88876248], [88876477, 88876556], [88877904, 88878064], [88878227, 88878328]] [[88876105, 88876248], [88876477, 88876556], [88877904, 88878064], [88878227, 88878307]]
ENST00000569616 [[88875925, 88876315], [88876477, 88876556], [88876830, 88876964], [88877957, 88878064], [88878227, 88878305]] [[88876226, 88876315], [88876477, 88876556], [88876830, 88876964], [88877957, 88878064], [88878227, 88878305]]
ENST00000568575 [[88876087, 88876248], [88876477, 88876806]] None
ENST00000562464 [[88876143, 88876248], [88876477, 88876556], [88877957, 88878288]] None
ENST00000564858 [[88877581, 88878064], [88878227, 88878328]] None
NM_000485 [[88875876, 88876248], [88876477, 88876556], [88876830, 88876964], [88877957, 88878064], [88878227, 88878342]] [[88876105, 88876248], [88876477, 88876556], [88876830, 88876964], [88877957, 88878064], [88878227, 88878307]]
NM_001030018 [[88875876, 88876114], [88876477, 88876556], [88876830, 88876964], [88877957, 88878064], [88878227, 88878342]] [[88876109, 88876114], [88876477, 88876556], [88876830, 88876964], [88877957, 88878064], [88878227, 88878307]]
Promoter
Chrom Start End Description
chr16 88878309 88878362 CAGE_peak_1_at_APRT_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr16 GH16I088779 88779426 88786087 2.56 [{'connected_gene': 'PIEZO1', 'score': 556.55}, {'connected_gene': 'APRT', 'score': 22.12}, {'connected_gene': 'ANKRD11', 'score': 21.7}, {'connected_gene': 'SNORD68', 'score': 12.56}, {'connected_gene': 'CDT1', 'score': 12.18}, {'connected_gene': 'GALNS', 'score': 11.31}, {'connected_gene': 'TRAPPC2L', 'score': 11.31}, {'connected_gene': 'ENSG00000259877', 'score': 11.3}, {'connected_gene': 'RPL13', 'score': 11.05}, {'connected_gene': 'CTU2', 'score': 10.89}, {'connected_gene': 'ZC3H18', 'score': 10.53}, {'connected_gene': 'ACSF3', 'score': 10.37}, {'connected_gene': 'CHMP1A', 'score': 10.19}, {'connected_gene': 'BANP', 'score': 9.84}, {'connected_gene': 'LINC00304', 'score': 9.73}, {'connected_gene': 'RNF166', 'score': 8.36}, {'connected_gene': 'ENSG00000260121', 'score': 6.84}, {'connected_gene': 'CYBA', 'score': 6.83}, {'connected_gene': 'CDK10', 'score': 6.78}, {'connected_gene': 'LOC100129697', 'score': 4.93}, {'connected_gene': 'SNAI3', 'score': 1.51}, {'connected_gene': 'LOC339059', 'score': 0.28}]
chr16 GH16I088766 88766866 88775391 1.79 [{'connected_gene': 'PIEZO1', 'score': 6.95}, {'connected_gene': 'APRT', 'score': 6.16}, {'connected_gene': 'RNF166', 'score': 5.46}, {'connected_gene': 'VPS9D1-AS1', 'score': 4.52}, {'connected_gene': 'LINC02166', 'score': 4.26}, {'connected_gene': 'LOC339059', 'score': 0.31}]
chr16 GH16I088743 88743309 88748202 1.29 [{'connected_gene': 'PIEZO1', 'score': 10.88}, {'connected_gene': 'RNF166', 'score': 7.66}, {'connected_gene': 'LOC339059', 'score': 7.02}, {'connected_gene': 'SNAI3-AS1', 'score': 6.95}, {'connected_gene': 'LOC100289580', 'score': 6.9}, {'connected_gene': 'CTU2', 'score': 6.57}, {'connected_gene': 'APRT', 'score': 6.08}]
chr16 GH16I088801 88801397 88808082 2.23 [{'connected_gene': 'CDT1', 'score': 550.77}, {'connected_gene': 'GALNS', 'score': 12.16}, {'connected_gene': 'APRT', 'score': 10.26}, {'connected_gene': 'RNF166', 'score': 5.66}, {'connected_gene': 'SNAI3', 'score': 5.18}, {'connected_gene': 'CDH15', 'score': 4.53}, {'connected_gene': 'PIR39293', 'score': 0.77}]
chr16 GH16I089503 89503933 89510033 2.63 [{'connected_gene': 'SPG7', 'score': 585.01}, {'connected_gene': 'LOC101927863', 'score': 571.5}, {'connected_gene': 'AFG3L1P', 'score': 27.51}, {'connected_gene': 'MC1R', 'score': 27.37}, {'connected_gene': 'RPL13', 'score': 26.38}, {'connected_gene': 'ENSG00000268218', 'score': 25.36}, {'connected_gene': 'ANKRD11', 'score': 23.61}, {'connected_gene': 'ZC3H18', 'score': 22.96}, {'connected_gene': 'TCF25', 'score': 21.0}, {'connected_gene': 'ACSF3', 'score': 17.93}, {'connected_gene': 'SNORD68', 'score': 12.77}, {'connected_gene': 'ENSG00000259877', 'score': 12.59}, {'connected_gene': 'RNU6-430P', 'score': 11.79}, {'connected_gene': 'GAS8', 'score': 11.59}, {'connected_gene': 'ENSG00000260279', 'score': 11.17}, {'connected_gene': 'GALNS', 'score': 10.98}, {'connected_gene': 'CHMP1A', 'score': 10.25}, {'connected_gene': 'APRT', 'score': 10.0}, {'connected_gene': 'URAHP', 'score': 9.66}, {'connected_gene': 'DBNDD1', 'score': 7.1}, {'connected_gene': 'ZNF276', 'score': 5.19}, {'connected_gene': 'SPATA2L', 'score': 3.49}, {'connected_gene': 'ENSG00000274627', 'score': 0.44}]
chr16 GH16I088990 88990905 88995527 1.81 [{'connected_gene': 'SNORD68', 'score': 27.74}, {'connected_gene': 'RPL13', 'score': 23.88}, {'connected_gene': 'ANKRD11', 'score': 21.92}, {'connected_gene': 'AFG3L1P', 'score': 21.43}, {'connected_gene': 'ACSF3', 'score': 17.82}, {'connected_gene': 'LOC100129697', 'score': 12.3}, {'connected_gene': 'ZC3H18', 'score': 12.1}, {'connected_gene': 'ENSG00000268218', 'score': 11.99}, {'connected_gene': 'ENSG00000260121', 'score': 11.0}, {'connected_gene': 'LOC101927863', 'score': 10.56}, {'connected_gene': 'CDK10', 'score': 5.65}, {'connected_gene': 'SNAI3-AS1', 'score': 4.89}, {'connected_gene': 'APRT', 'score': 4.43}, {'connected_gene': 'PIR32035', 'score': 0.44}, {'connected_gene': 'ENSG00000259989', 'score': 0.44}, {'connected_gene': 'ENSG00000256982', 'score': 0.22}]
chr16 GH16I087841 87841021 87863965 1.85 [{'connected_gene': 'BANP', 'score': 14.56}, {'connected_gene': 'SLC7A5', 'score': 11.53}, {'connected_gene': 'FBXO31', 'score': 6.14}, {'connected_gene': 'LOC400553', 'score': 6.09}, {'connected_gene': 'ZCCHC14', 'score': 5.21}, {'connected_gene': 'APRT', 'score': 4.94}, {'connected_gene': 'MAP1LC3B', 'score': 3.1}, {'connected_gene': 'CA5A', 'score': 3.1}, {'connected_gene': 'KLHDC4', 'score': 1.74}, {'connected_gene': 'PIR45032', 'score': 0.44}, {'connected_gene': 'ENSG00000260466', 'score': 0.37}]
chr16 GH16I088317 88317221 88318307 0.63 [{'connected_gene': 'APRT', 'score': 4.44}, {'connected_gene': 'GC16P088248', 'score': 0.2}, {'connected_gene': 'ZNF469', 'score': 0.18}, {'connected_gene': 'ZFPM1', 'score': 0.12}]
chr16 GH16I088853 88853249 88853636 0.38 [{'connected_gene': 'APRT', 'score': 12.28}, {'connected_gene': 'CDT1', 'score': 12.25}, {'connected_gene': 'RNF166', 'score': 1.84}, {'connected_gene': 'CBFA2T3', 'score': 1.59}, {'connected_gene': 'SNAI3', 'score': 1.24}, {'connected_gene': 'GALNS', 'score': 0.77}, {'connected_gene': 'TRAPPC2L', 'score': 0.77}, {'connected_gene': 'PIR42461', 'score': 0.31}]
chr16 GH16I088809 88809068 88813486 2.31 [{'connected_gene': 'APRT', 'score': 561.76}, {'connected_gene': 'ENSG00000259877', 'score': 52.86}, {'connected_gene': 'SNORD68', 'score': 37.76}, {'connected_gene': 'GALNS', 'score': 30.9}, {'connected_gene': 'ANKRD11', 'score': 30.21}, {'connected_gene': 'LOC101927863', 'score': 28.59}, {'connected_gene': 'RPL13', 'score': 22.06}, {'connected_gene': 'ENSG00000260121', 'score': 21.2}, {'connected_gene': 'ZC3H18', 'score': 20.84}, {'connected_gene': 'ACSF3', 'score': 20.46}, {'connected_gene': 'CTU2', 'score': 20.26}, {'connected_gene': 'CDK10', 'score': 14.67}, {'connected_gene': 'ENSG00000268218', 'score': 12.99}, {'connected_gene': 'ENSG00000260279', 'score': 10.88}, {'connected_gene': 'SPG7', 'score': 10.77}, {'connected_gene': 'TRAPPC2L', 'score': 10.37}, {'connected_gene': 'BANP', 'score': 10.33}, {'connected_gene': 'LINC00304', 'score': 10.01}, {'connected_gene': 'CDH15', 'score': 4.46}, {'connected_gene': 'PIR39293', 'score': 0.77}, {'connected_gene': 'CDT1', 'score': 0.44}]
chr16 GH16I088162 88161715 88161904 0.4 [{'connected_gene': 'APRT', 'score': 4.48}, {'connected_gene': 'PIR46526', 'score': 0.44}, {'connected_gene': 'ENSG00000260162', 'score': 0.37}, {'connected_gene': 'GC16P088178', 'score': 0.37}]
chr16 GH16I088165 88165286 88167906 0.71 [{'connected_gene': 'APRT', 'score': 4.52}, {'connected_gene': 'ENSG00000260162', 'score': 0.39}, {'connected_gene': 'PIR46526', 'score': 0.39}, {'connected_gene': 'GC16P088178', 'score': 0.39}]
chr16 GH16I089558 89558661 89566590 2.52 [{'connected_gene': 'RPL13', 'score': 602.3}, {'connected_gene': 'SNORD68', 'score': 586.22}, {'connected_gene': 'GC16P089560', 'score': 550.77}, {'connected_gene': 'PIR32702', 'score': 550.77}, {'connected_gene': 'GC16P089561', 'score': 550.77}, {'connected_gene': 'AFG3L1P', 'score': 67.6}, {'connected_gene': 'ANKRD11', 'score': 60.82}, {'connected_gene': 'TCF25', 'score': 55.36}, {'connected_gene': 'ENSG00000268218', 'score': 53.73}, {'connected_gene': 'ENSG00000259877', 'score': 45.33}, {'connected_gene': 'LOC101927863', 'score': 44.44}, {'connected_gene': 'ACSF3', 'score': 43.86}, {'connected_gene': 'ZC3H18', 'score': 42.02}, {'connected_gene': 'MC1R', 'score': 33.73}, {'connected_gene': 'SPG7', 'score': 23.91}, {'connected_gene': 'ENSG00000260121', 'score': 21.61}, {'connected_gene': 'ENSG00000260279', 'score': 20.27}, {'connected_gene': 'LINC00304', 'score': 19.45}, {'connected_gene': 'CTU2', 'score': 19.05}, {'connected_gene': 'CDK10', 'score': 17.66}, {'connected_gene': 'CHMP1A', 'score': 13.23}, {'connected_gene': 'RNU6-430P', 'score': 11.56}, {'connected_gene': 'GALNS', 'score': 10.68}, {'connected_gene': 'PIEZO1', 'score': 10.02}, {'connected_gene': 'GAS8-AS1', 'score': 10.01}, {'connected_gene': 'APRT', 'score': 10.0}, {'connected_gene': 'DBNDD1', 'score': 9.5}, {'connected_gene': 'GC16P089578', 'score': 0.77}, {'connected_gene': 'PIR36548', 'score': 0.77}]
chr16 GH16I088854 88854323 88858502 2.25 [{'connected_gene': 'GALNS', 'score': 560.34}, {'connected_gene': 'TRAPPC2L', 'score': 550.77}, {'connected_gene': 'APRT', 'score': 12.28}, {'connected_gene': 'CDT1', 'score': 12.25}, {'connected_gene': 'CYBA', 'score': 7.23}, {'connected_gene': 'RNF166', 'score': 5.99}, {'connected_gene': 'ZC3H18', 'score': 2.11}, {'connected_gene': 'SNAI3', 'score': 1.76}, {'connected_gene': 'CBFA2T3', 'score': 1.64}]
chr16 GH16I088817 88817680 88819059 0.46 [{'connected_gene': 'GALNS', 'score': 14.31}, {'connected_gene': 'APRT', 'score': 8.48}, {'connected_gene': 'PIR44482', 'score': 0.77}, {'connected_gene': 'PIR42461', 'score': 0.39}]
chr16 GH16I088698 88698126 88707536 2.57 [{'connected_gene': 'RNF166', 'score': 587.49}, {'connected_gene': 'CTU2', 'score': 562.62}, {'connected_gene': 'SNAI3-AS1', 'score': 11.37}, {'connected_gene': 'SNAI3', 'score': 10.2}, {'connected_gene': 'ENSG00000260121', 'score': 7.56}, {'connected_gene': 'PIEZO1', 'score': 7.16}, {'connected_gene': 'CDK10', 'score': 5.44}, {'connected_gene': 'ZC3H18', 'score': 4.71}, {'connected_gene': 'APRT', 'score': 4.68}, {'connected_gene': 'CYBA', 'score': 2.8}, {'connected_gene': 'CBFA2T3', 'score': 2.61}, {'connected_gene': 'ZFPM1', 'score': 2.52}, {'connected_gene': 'GALNS', 'score': 1.5}, {'connected_gene': 'ACSF3', 'score': 1.21}, {'connected_gene': 'ENSG00000259813', 'score': 0.44}]
chr16 GH16I088468 88468341 88474582 1.43 [{'connected_gene': 'RNF166', 'score': 8.69}, {'connected_gene': 'ZFPM1', 'score': 8.45}, {'connected_gene': 'LOC100128882', 'score': 5.5}, {'connected_gene': 'ZC3H18', 'score': 2.72}, {'connected_gene': 'APRT', 'score': 2.04}, {'connected_gene': 'CTU2', 'score': 1.67}, {'connected_gene': 'ZNF469', 'score': 1.49}, {'connected_gene': 'SNAI3', 'score': 1.45}, {'connected_gene': 'PIEZO1', 'score': 1.39}, {'connected_gene': 'MIR5189', 'score': 0.77}]
chr16 GH16I088920 88920402 88929294 1.58 [{'connected_gene': 'LOC105371409', 'score': 550.77}, {'connected_gene': 'CBFA2T3', 'score': 16.0}, {'connected_gene': 'APRT', 'score': 14.56}, {'connected_gene': 'SNORD68', 'score': 13.59}, {'connected_gene': 'ACSF3', 'score': 13.4}, {'connected_gene': 'RPL13', 'score': 13.3}, {'connected_gene': 'ANKRD11', 'score': 9.76}, {'connected_gene': 'LOC100129697', 'score': 6.55}, {'connected_gene': 'CDK10', 'score': 4.86}, {'connected_gene': 'LOC102724632', 'score': 0.34}]
chr16 GH16I088185 88185401 88187983 0.83 [{'connected_gene': 'LOC105371401', 'score': 550.77}, {'connected_gene': 'ACSF3', 'score': 13.33}, {'connected_gene': 'ENSG00000269901', 'score': 11.06}, {'connected_gene': 'APRT', 'score': 9.79}, {'connected_gene': 'ENSG00000260162', 'score': 0.44}, {'connected_gene': 'GC16P088178', 'score': 0.44}]
chr16 GH16I087944 87944795 87947184 1.93 [{'connected_gene': 'ENSG00000260443', 'score': 550.77}, {'connected_gene': 'GC16P087944', 'score': 550.77}, {'connected_gene': 'BANP', 'score': 18.81}, {'connected_gene': 'ENSG00000269901', 'score': 11.07}, {'connected_gene': 'APRT', 'score': 9.79}, {'connected_gene': 'ZCCHC14', 'score': 4.02}]
chr16 GH16I088816 88816113 88816242 0.78 [{'connected_gene': 'PIR44482', 'score': 550.77}, {'connected_gene': 'APRT', 'score': 9.26}, {'connected_gene': 'PIR42461', 'score': 0.39}, {'connected_gene': 'GALNS', 'score': 0.26}]
chr16 GH16I088268 88268337 88272048 0.57 [{'connected_gene': 'ENSG00000259877', 'score': 13.3}, {'connected_gene': 'APRT', 'score': 5.54}, {'connected_gene': 'LOC105371401', 'score': 4.92}, {'connected_gene': 'GC16P088248', 'score': 0.34}, {'connected_gene': 'ENSG00000261273', 'score': 0.28}, {'connected_gene': 'ZNF469', 'score': 0.28}, {'connected_gene': 'ZFPM1', 'score': 0.09}]
chr16 GH16I088685 88685153 88688756 2.04 [{'connected_gene': 'PIR40856', 'score': 550.77}, {'connected_gene': 'SNAI3', 'score': 550.77}, {'connected_gene': 'SNORD68', 'score': 23.55}, {'connected_gene': 'ACSF3', 'score': 22.34}, {'connected_gene': 'RPL13', 'score': 22.16}, {'connected_gene': 'ANKRD11', 'score': 19.63}, {'connected_gene': 'BANP', 'score': 19.37}, {'connected_gene': 'SNAI3-AS1', 'score': 13.47}, {'connected_gene': 'RNF166', 'score': 12.5}, {'connected_gene': 'MVD', 'score': 12.37}, {'connected_gene': 'CYBA', 'score': 12.31}, {'connected_gene': 'ENSG00000268218', 'score': 11.96}, {'connected_gene': 'ENSG00000260121', 'score': 11.23}, {'connected_gene': 'LOC101927863', 'score': 10.55}, {'connected_gene': 'CHMP1A', 'score': 10.19}, {'connected_gene': 'APRT', 'score': 10.1}, {'connected_gene': 'CTU2', 'score': 7.32}, {'connected_gene': 'PIEZO1', 'score': 7.18}, {'connected_gene': 'ENSG00000259813', 'score': 0.44}]
chr16 GH16I088798 88798626 88800929 1.62 [{'connected_gene': 'ENSG00000259877', 'score': 13.99}, {'connected_gene': 'GALNS', 'score': 12.88}, {'connected_gene': 'APRT', 'score': 10.54}, {'connected_gene': 'CBFA2T3', 'score': 4.53}, {'connected_gene': 'ACSF3', 'score': 2.18}, {'connected_gene': 'CDT1', 'score': 0.77}, {'connected_gene': 'PIEZO1', 'score': 0.39}]
chr16 GH16I088329 88329846 88335866 1.75 [{'connected_gene': 'ENSG00000259877', 'score': 59.02}, {'connected_gene': 'ACSF3', 'score': 56.46}, {'connected_gene': 'ZC3H18', 'score': 53.31}, {'connected_gene': 'BANP', 'score': 39.87}, {'connected_gene': 'ENSG00000268218', 'score': 38.26}, {'connected_gene': 'ENSG00000260121', 'score': 31.66}, {'connected_gene': 'ZCCHC14', 'score': 29.05}, {'connected_gene': 'CTU2', 'score': 20.86}, {'connected_gene': 'GALNS', 'score': 20.82}, {'connected_gene': 'PIEZO1', 'score': 19.42}, {'connected_gene': 'LINC00304', 'score': 18.37}, {'connected_gene': 'ZNF778', 'score': 12.21}, {'connected_gene': 'ENSG00000269901', 'score': 11.06}, {'connected_gene': 'KLHDC4', 'score': 11.05}, {'connected_gene': 'APRT', 'score': 9.81}, {'connected_gene': 'ZNF469', 'score': 2.67}, {'connected_gene': 'CYBA', 'score': 2.38}, {'connected_gene': 'GC16P088248', 'score': 0.18}, {'connected_gene': 'ZFPM1', 'score': 0.13}]
chr16 GH16I088502 88502379 88511391 1.68 [{'connected_gene': 'ENSG00000259877', 'score': 28.1}, {'connected_gene': 'LOC101927863', 'score': 28.07}, {'connected_gene': 'SPG7', 'score': 24.09}, {'connected_gene': 'ZC3H18', 'score': 22.24}, {'connected_gene': 'ANKRD11', 'score': 20.14}, {'connected_gene': 'ENSG00000268218', 'score': 12.44}, {'connected_gene': 'ENSG00000260121', 'score': 11.46}, {'connected_gene': 'ACSF3', 'score': 11.31}, {'connected_gene': 'ENSG00000260279', 'score': 11.11}, {'connected_gene': 'GALNS', 'score': 10.73}, {'connected_gene': 'LOC100128882', 'score': 10.39}, {'connected_gene': 'BANP', 'score': 9.65}, {'connected_gene': 'APRT', 'score': 5.79}, {'connected_gene': 'MIR5189', 'score': 0.28}, {'connected_gene': 'ZFPM1', 'score': 0.22}]

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