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
ENST00000564878 [[89884586, 89884946], [89911729, 89911773], [89916711, 89916970]] None
ENST00000393062 [[89894906, 89895202], [89911729, 89911773], [89916711, 89917068], [89920693, 89920774], [89920894, 89921059], [89922007, 89922094], [89922520, 89922644], [89924745, 89924915], [89925572, 89925762], [89927090, 89927203], [89929883, 89930018], [89930201, 89930269], [89936457, 89936799]] [[89894958, 89895202], [89911729, 89911773], [89916711, 89917068], [89920693, 89920774], [89920894, 89921059], [89922007, 89922094], [89922520, 89922644], [89924745, 89924915], [89925572, 89925762], [89927090, 89927203], [89929883, 89930018], [89930201, 89930269], [89936457, 89936680]]
ENST00000378247 [[89894915, 89895202], [89911729, 89911773], [89916711, 89917068], [89920693, 89920774], [89920894, 89921059], [89922007, 89922094], [89922520, 89922644], [89924745, 89924915], [89925572, 89925762], [89927090, 89927203], [89929883, 89930018], [89930201, 89930269], [89934596, 89934624], [89935974, 89936090], [89936457, 89937727]] [[89894958, 89895202], [89911729, 89911773], [89916711, 89917068], [89920693, 89920774], [89920894, 89921059], [89922007, 89922094], [89922520, 89922644], [89924745, 89924915], [89925572, 89925762], [89927090, 89927203], [89929883, 89930018], [89930201, 89930269], [89934596, 89934624], [89935974, 89936090], [89936457, 89936680]]
ENST00000566337 [[89895105, 89895202], [89902622, 89902841], [89911729, 89911773], [89916711, 89917068], [89920693, 89920774], [89920894, 89921059], [89922007, 89922094], [89922520, 89922644], [89924745, 89924915], [89925572, 89925597]] [[89895105, 89895202], [89902622, 89902648]]
ENST00000565103 [[89884657, 89884946], [89888640, 89888938]] None
ENST00000563972 [[89894954, 89895202], [89911729, 89911773], [89912033, 89913564]] [[89894958, 89895202], [89911729, 89911773], [89912033, 89912045]]
ENST00000569108 [[89916273, 89917068], [89920693, 89920774], [89920894, 89921059], [89922007, 89922094], [89922520, 89922644], [89924745, 89924915], [89925572, 89925762], [89927090, 89927203], [89929883, 89930018], [89930201, 89930269], [89934596, 89934624], [89935974, 89936090], [89936457, 89936794]] None
ENST00000561883 [[89920729, 89920774], [89920894, 89921059], [89922007, 89922469]] None
ENST00000562029 [[89928373, 89930018], [89930201, 89930269], [89934596, 89934624], [89935974, 89936090], [89936457, 89936815]] None
ENST00000565628 [[89929849, 89930018], [89930201, 89930269], [89935974, 89936090], [89936457, 89936609]] None
NM_032451 [[89894906, 89895202], [89911729, 89911773], [89916711, 89917068], [89920693, 89920774], [89920894, 89921059], [89922007, 89922094], [89922520, 89922644], [89924745, 89924915], [89925572, 89925762], [89927090, 89927203], [89929883, 89930018], [89930201, 89930269], [89934596, 89934624], [89935974, 89936090], [89936457, 89937727]] [[89894958, 89895202], [89911729, 89911773], [89916711, 89917068], [89920693, 89920774], [89920894, 89921059], [89922007, 89922094], [89922520, 89922644], [89924745, 89924915], [89925572, 89925762], [89927090, 89927203], [89929883, 89930018], [89930201, 89930269], [89934596, 89934624], [89935974, 89936090], [89936457, 89936680]]
Promoter
Chrom Start End Description
chr16 89894845 89894856 CAGE_peak_2_at_SPIRE2_5end
chr16 89894875 89894905 CAGE_peak_1_at_SPIRE2_5end
chr16 89894911 89894920 CAGE_peak_3_at_SPIRE2_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr16 GH16I089841 89841373 89841522 0.54 [{'connected_gene': 'VPS9D1', 'score': 11.83}, {'connected_gene': 'ZNF276', 'score': 11.83}, {'connected_gene': 'LOC105371419', 'score': 0.39}, {'connected_gene': 'SPIRE2', 'score': 0.34}]
chr16 GH16I089839 89839573 89839800 0.86 [{'connected_gene': 'VPS9D1', 'score': 11.83}, {'connected_gene': 'ZNF276', 'score': 11.83}, {'connected_gene': 'LOC105371419', 'score': 0.39}, {'connected_gene': 'SPIRE2', 'score': 0.34}]
chr16 GH16I089971 89971052 89975874 2.06 [{'connected_gene': 'CENPBD1', 'score': 562.12}, {'connected_gene': 'AFG3L1P', 'score': 560.77}, {'connected_gene': 'DEF8', 'score': 21.21}, {'connected_gene': 'ACSF3', 'score': 13.22}, {'connected_gene': 'ANKRD11', 'score': 12.97}, {'connected_gene': 'TUBB3', 'score': 12.25}, {'connected_gene': 'ENSG00000198211', 'score': 12.25}, {'connected_gene': 'ZNF778', 'score': 12.21}, {'connected_gene': 'URAHP', 'score': 11.15}, {'connected_gene': 'TCF25', 'score': 11.13}, {'connected_gene': 'ENSG00000268218', 'score': 10.71}, {'connected_gene': 'SNORD68', 'score': 10.67}, {'connected_gene': 'LOC101927863', 'score': 10.57}, {'connected_gene': 'MC1R', 'score': 10.43}, {'connected_gene': 'CHMP1A', 'score': 10.22}, {'connected_gene': 'CDK10', 'score': 9.61}, {'connected_gene': 'DBNDD1', 'score': 8.91}, {'connected_gene': 'GAS8', 'score': 7.13}, {'connected_gene': 'SPIRE2', 'score': 6.15}, {'connected_gene': 'RPL13', 'score': 4.63}, {'connected_gene': 'ENSG00000261317', 'score': 0.77}, {'connected_gene': 'PIR34106', 'score': 0.37}, {'connected_gene': 'GC16P089993', 'score': 0.37}]
chr16 GH16I089639 89639921 89642296 1.13 [{'connected_gene': 'CDK10', 'score': 49.34}, {'connected_gene': 'SPIRE2', 'score': 13.58}, {'connected_gene': 'GAS8-AS1', 'score': 13.36}, {'connected_gene': 'CHMP1A', 'score': 12.2}, {'connected_gene': 'DPEP1', 'score': 10.1}, {'connected_gene': 'RPL13', 'score': 5.49}, {'connected_gene': 'PIR44959', 'score': 0.77}]
chr16 GH16I089832 89832519 89839078 1.71 [{'connected_gene': 'CDK10', 'score': 25.41}, {'connected_gene': 'SPIRE2', 'score': 18.8}, {'connected_gene': 'ACSF3', 'score': 16.23}, {'connected_gene': 'TUBB3', 'score': 14.51}, {'connected_gene': 'GALNS', 'score': 13.07}, {'connected_gene': 'VPS9D1', 'score': 11.84}, {'connected_gene': 'ZNF276', 'score': 11.83}, {'connected_gene': 'ANKRD11', 'score': 11.82}, {'connected_gene': 'SNORD68', 'score': 11.67}, {'connected_gene': 'FANCA', 'score': 5.4}, {'connected_gene': 'RPL13', 'score': 4.68}, {'connected_gene': 'MC1R', 'score': 3.53}, {'connected_gene': 'LOC105371419', 'score': 0.37}]
chr16 GH16I089668 89668601 89668800 0.2 [{'connected_gene': 'CDK10', 'score': 33.02}, {'connected_gene': 'SPIRE2', 'score': 11.51}, {'connected_gene': 'SPATA33', 'score': 0.39}, {'connected_gene': 'CHMP1A', 'score': 0.39}]
chr16 GH16I089862 89862809 89865649 1.09 [{'connected_gene': 'CDK10', 'score': 28.33}, {'connected_gene': 'SPIRE2', 'score': 17.28}, {'connected_gene': 'TUBB3', 'score': 14.86}, {'connected_gene': 'TCF25', 'score': 0.44}, {'connected_gene': 'LOC105371419', 'score': 0.44}]
chr16 GH16I089607 89607354 89609242 0.66 [{'connected_gene': 'CDK10', 'score': 15.88}, {'connected_gene': 'DBNDD1', 'score': 13.68}, {'connected_gene': 'SPIRE2', 'score': 7.92}, {'connected_gene': 'GAS8', 'score': 7.66}, {'connected_gene': 'FANCA', 'score': 7.55}, {'connected_gene': 'RPL13', 'score': 4.77}, {'connected_gene': 'PIR32438', 'score': 0.77}, {'connected_gene': 'CPNE7', 'score': 0.29}]
chr16 GH16I089705 89705916 89706925 1.09 [{'connected_gene': 'CDK10', 'score': 23.21}, {'connected_gene': 'GAS8-AS1', 'score': 11.91}, {'connected_gene': 'SPIRE2', 'score': 7.18}, {'connected_gene': 'SPATA2L', 'score': 0.77}, {'connected_gene': 'VPS9D1-AS1', 'score': 0.44}]
chr16 GH16I089848 89848979 89849755 0.2 [{'connected_gene': 'CDK10', 'score': 13.9}, {'connected_gene': 'FANCA', 'score': 12.49}, {'connected_gene': 'SPATA2L', 'score': 11.99}, {'connected_gene': 'VPS9D1', 'score': 11.72}, {'connected_gene': 'ZNF276', 'score': 11.72}, {'connected_gene': 'LOC105371419', 'score': 0.77}, {'connected_gene': 'SPIRE2', 'score': 0.29}]
chr16 GH16I089844 89844769 89845322 0.31 [{'connected_gene': 'CDK10', 'score': 13.84}, {'connected_gene': 'FANCA', 'score': 12.51}, {'connected_gene': 'SPATA2L', 'score': 11.99}, {'connected_gene': 'VPS9D1', 'score': 11.72}, {'connected_gene': 'ZNF276', 'score': 11.72}, {'connected_gene': 'LOC105371419', 'score': 0.44}, {'connected_gene': 'SPIRE2', 'score': 0.31}]
chr16 GH16I089749 89749601 89750075 0.43 [{'connected_gene': 'SPIRE2', 'score': 17.91}, {'connected_gene': 'VPS9D1', 'score': 13.42}, {'connected_gene': 'ZNF276', 'score': 13.42}, {'connected_gene': 'PIR55781', 'score': 0.44}, {'connected_gene': 'FANCA', 'score': 0.2}]
chr16 GH16I089825 89825687 89830930 2.45 [{'connected_gene': 'SPIRE2', 'score': 568.01}, {'connected_gene': 'CDK10', 'score': 34.03}, {'connected_gene': 'FANCA', 'score': 20.53}, {'connected_gene': 'AFG3L1P', 'score': 17.73}, {'connected_gene': 'SPG7', 'score': 16.18}, {'connected_gene': 'MC1R', 'score': 15.63}, {'connected_gene': 'ZNF778', 'score': 15.2}, {'connected_gene': 'ENSG00000268218', 'score': 12.44}, {'connected_gene': 'ENSG00000260279', 'score': 11.12}, {'connected_gene': 'LOC101927863', 'score': 9.83}, {'connected_gene': 'LOC105371419', 'score': 0.31}]
chr16 GH16I089821 89821385 89824114 1.13 [{'connected_gene': 'SPIRE2', 'score': 18.36}, {'connected_gene': 'ENSG00000259877', 'score': 17.19}, {'connected_gene': 'CDK10', 'score': 12.45}, {'connected_gene': 'AFG3L1P', 'score': 11.23}, {'connected_gene': 'GAS8', 'score': 10.56}, {'connected_gene': 'MC1R', 'score': 10.09}, {'connected_gene': 'TCF25', 'score': 9.95}, {'connected_gene': 'FANCA', 'score': 4.89}, {'connected_gene': 'LOC105371419', 'score': 0.29}]
chr16 GH16I089824 89824694 89825539 0.31 [{'connected_gene': 'SPIRE2', 'score': 18.36}, {'connected_gene': 'CDK10', 'score': 10.03}, {'connected_gene': 'LOC105371419', 'score': 0.31}]
chr16 GH16I089831 89831904 89832310 0.2 [{'connected_gene': 'SPIRE2', 'score': 17.86}, {'connected_gene': 'CDK10', 'score': 11.06}, {'connected_gene': 'LOC105371419', 'score': 0.34}]
chr16 GH16I089793 89793233 89793382 0.69 [{'connected_gene': 'SPIRE2', 'score': 18.07}, {'connected_gene': 'DBNDD1', 'score': 11.32}, {'connected_gene': 'FANCA', 'score': 0.34}, {'connected_gene': 'PIR55781', 'score': 0.23}]
chr16 GH16I089815 89815377 89819664 2.49 [{'connected_gene': 'SPIRE2', 'score': 605.19}, {'connected_gene': 'FANCA', 'score': 550.77}, {'connected_gene': 'CDK10', 'score': 36.75}, {'connected_gene': 'ACSF3', 'score': 13.24}, {'connected_gene': 'GALNS', 'score': 13.07}, {'connected_gene': 'ANKRD11', 'score': 11.82}, {'connected_gene': 'SNORD68', 'score': 11.68}, {'connected_gene': 'GAS8', 'score': 5.08}, {'connected_gene': 'VPS9D1', 'score': 4.69}, {'connected_gene': 'LOC105371419', 'score': 0.28}]
chr16 GH16I089784 89784493 89784642 0.31 [{'connected_gene': 'SPIRE2', 'score': 18.0}, {'connected_gene': 'FANCA', 'score': 4.95}, {'connected_gene': 'PIR55781', 'score': 0.26}]
chr16 GH16I089785 89785693 89785822 0.2 [{'connected_gene': 'SPIRE2', 'score': 23.22}, {'connected_gene': 'FANCA', 'score': 0.29}, {'connected_gene': 'PIR55781', 'score': 0.25}]
chr16 GH16I089804 89804566 89806322 0.43 [{'connected_gene': 'SPIRE2', 'score': 23.75}, {'connected_gene': 'SPATA2L', 'score': 12.59}, {'connected_gene': 'VPS9D1', 'score': 11.48}, {'connected_gene': 'ZNF276', 'score': 11.47}, {'connected_gene': 'CDK10', 'score': 11.13}, {'connected_gene': 'FANCA', 'score': 7.38}, {'connected_gene': 'RPL13', 'score': 6.76}, {'connected_gene': 'VPS9D1-AS1', 'score': 5.97}, {'connected_gene': 'PIR55781', 'score': 0.2}]
chr16 GH16I089850 89850087 89850834 0.31 [{'connected_gene': 'SPIRE2', 'score': 17.54}, {'connected_gene': 'TUBB3', 'score': 15.0}, {'connected_gene': 'LOC105371419', 'score': 0.77}]
chr16 GH16I090044 90044193 90044382 0.74 [{'connected_gene': 'DEF8', 'score': 13.44}, {'connected_gene': 'SPIRE2', 'score': 4.71}, {'connected_gene': 'GC16P090043', 'score': 0.77}, {'connected_gene': 'URAHP', 'score': 0.77}, {'connected_gene': 'GAS8', 'score': 0.34}]
chr16 GH16I089615 89615673 89615822 0.64 [{'connected_gene': 'CHMP1A', 'score': 14.26}, {'connected_gene': 'DBNDD1', 'score': 13.33}, {'connected_gene': 'CDK10', 'score': 12.06}, {'connected_gene': 'SPIRE2', 'score': 7.58}, {'connected_gene': 'DPEP1', 'score': 0.77}, {'connected_gene': 'PIR44959', 'score': 0.31}]
chr16 GH16I089656 89656451 89659078 2.02 [{'connected_gene': 'CHMP1A', 'score': 565.17}, {'connected_gene': 'SPATA33', 'score': 550.77}, {'connected_gene': 'CDK10', 'score': 20.76}, {'connected_gene': 'AFG3L1P', 'score': 19.47}, {'connected_gene': 'TCF25', 'score': 19.08}, {'connected_gene': 'MC1R', 'score': 18.54}, {'connected_gene': 'ENSG00000259877', 'score': 17.2}, {'connected_gene': 'GAS8-AS1', 'score': 13.38}, {'connected_gene': 'ACSF3', 'score': 13.22}, {'connected_gene': 'DBNDD1', 'score': 13.12}, {'connected_gene': 'ANKRD11', 'score': 13.02}, {'connected_gene': 'ZNF778', 'score': 12.23}, {'connected_gene': 'GALNS', 'score': 11.89}, {'connected_gene': 'CTU2', 'score': 11.32}, {'connected_gene': 'SNORD68', 'score': 10.78}, {'connected_gene': 'ENSG00000268218', 'score': 10.74}, {'connected_gene': 'LOC101927863', 'score': 10.64}, {'connected_gene': 'GAS8', 'score': 10.53}, {'connected_gene': 'SPIRE2', 'score': 6.37}]
chr16 GH16I089871 89871819 89875221 2.07 [{'connected_gene': 'TCF25', 'score': 560.49}, {'connected_gene': 'TUBB3', 'score': 18.67}, {'connected_gene': 'ENSG00000259877', 'score': 17.19}, {'connected_gene': 'MC1R', 'score': 15.2}, {'connected_gene': 'AFG3L1P', 'score': 11.27}, {'connected_gene': 'GAS8', 'score': 10.59}, {'connected_gene': 'SPIRE2', 'score': 10.57}, {'connected_gene': 'VPS9D1', 'score': 5.72}, {'connected_gene': 'LOC105371419', 'score': 0.37}]
chr16 GH16I089763 89763236 89766107 1.02 [{'connected_gene': 'FANCA', 'score': 28.94}, {'connected_gene': 'CDK10', 'score': 23.89}, {'connected_gene': 'SPIRE2', 'score': 18.48}, {'connected_gene': 'VPS9D1', 'score': 12.89}, {'connected_gene': 'ZNF276', 'score': 12.89}, {'connected_gene': 'SPATA2L', 'score': 12.06}, {'connected_gene': 'GAS8', 'score': 7.15}, {'connected_gene': 'PIR55781', 'score': 0.34}]
chr16 GH16I089760 89760462 89762711 0.58 [{'connected_gene': 'FANCA', 'score': 26.06}, {'connected_gene': 'CDK10', 'score': 23.87}, {'connected_gene': 'SPIRE2', 'score': 20.51}, {'connected_gene': 'GALNS', 'score': 12.9}, {'connected_gene': 'VPS9D1', 'score': 12.89}, {'connected_gene': 'ZNF276', 'score': 12.89}, {'connected_gene': 'CHMP1A', 'score': 12.28}, {'connected_gene': 'LOC101927863', 'score': 12.17}, {'connected_gene': 'SPATA2L', 'score': 12.08}, {'connected_gene': 'TCF25', 'score': 11.05}, {'connected_gene': 'ANKRD11', 'score': 9.94}, {'connected_gene': 'DBNDD1', 'score': 7.98}, {'connected_gene': 'PIR55781', 'score': 0.34}]
chr16 GH16I089846 89846783 89848310 0.83 [{'connected_gene': 'FANCA', 'score': 25.06}, {'connected_gene': 'SPIRE2', 'score': 17.61}, {'connected_gene': 'DBNDD1', 'score': 16.14}, {'connected_gene': 'CDK10', 'score': 13.72}, {'connected_gene': 'SPATA2L', 'score': 11.99}, {'connected_gene': 'VPS9D1', 'score': 11.72}, {'connected_gene': 'ZNF276', 'score': 11.72}, {'connected_gene': 'LOC105371419', 'score': 0.44}]
chr16 GH16I089845 89845453 89845840 0.6 [{'connected_gene': 'FANCA', 'score': 22.65}, {'connected_gene': 'SPIRE2', 'score': 17.72}, {'connected_gene': 'SPATA2L', 'score': 11.99}, {'connected_gene': 'ZNF276', 'score': 11.72}, {'connected_gene': 'VPS9D1', 'score': 11.72}, {'connected_gene': 'LOC105371419', 'score': 0.44}]
chr16 GH16I089025 89025780 89026962 1.12 [{'connected_gene': 'ACSF3', 'score': 6.65}, {'connected_gene': 'SPIRE2', 'score': 6.52}, {'connected_gene': 'ENSG00000256982', 'score': 0.31}, {'connected_gene': 'PIR32035', 'score': 0.28}]
chr16 GH16I089842 89842362 89843842 1.25 [{'connected_gene': 'SPATA2L', 'score': 17.89}, {'connected_gene': 'SPIRE2', 'score': 17.79}, {'connected_gene': 'CDK10', 'score': 13.99}, {'connected_gene': 'FANCA', 'score': 12.51}, {'connected_gene': 'VPS9D1', 'score': 11.83}, {'connected_gene': 'ZNF276', 'score': 11.83}, {'connected_gene': 'LOC105371419', 'score': 0.39}]
chr16 GH16I089328 89328943 89336965 1.38 [{'connected_gene': 'RNU6-430P', 'score': 12.42}, {'connected_gene': 'SPG7', 'score': 12.27}, {'connected_gene': 'DBNDD1', 'score': 11.41}, {'connected_gene': 'ANKRD11', 'score': 6.72}, {'connected_gene': 'LOC100287036', 'score': 6.15}, {'connected_gene': 'SPIRE2', 'score': 5.25}, {'connected_gene': 'RNF166', 'score': 4.91}, {'connected_gene': 'PIR55522', 'score': 0.28}]
chr16 GH16I089855 89855215 89856326 0.2 [{'connected_gene': 'LOC105371419', 'score': 550.77}, {'connected_gene': 'CDK10', 'score': 19.43}, {'connected_gene': 'TCF25', 'score': 0.37}, {'connected_gene': 'SPIRE2', 'score': 0.28}]
chr16 GH16I089853 89853455 89853548 0.59 [{'connected_gene': 'LOC105371419', 'score': 550.77}, {'connected_gene': 'GAS8-AS1', 'score': 7.14}, {'connected_gene': 'DBNDD1', 'score': 4.24}, {'connected_gene': 'PRDM7', 'score': 3.42}, {'connected_gene': 'DPEP1', 'score': 1.43}, {'connected_gene': 'SPIRE2', 'score': 0.28}]
chr16 GH16I089860 89860913 89861082 1.1 [{'connected_gene': 'LOC105371419', 'score': 0.44}, {'connected_gene': 'TCF25', 'score': 0.39}, {'connected_gene': 'SPIRE2', 'score': 0.26}]
chr16 GH16I088981 88981574 88984721 1.18 [{'connected_gene': 'ENSG00000259989', 'score': 550.77}, {'connected_gene': 'CDK10', 'score': 5.65}, {'connected_gene': 'RNF166', 'score': 5.65}, {'connected_gene': 'ACSF3', 'score': 5.2}, {'connected_gene': 'SNAI3-AS1', 'score': 5.08}, {'connected_gene': 'SPATA2L', 'score': 4.32}, {'connected_gene': 'SPIRE2', 'score': 4.32}, {'connected_gene': 'CBFA2T3', 'score': 3.76}]
chr16 GH16I089736 89736909 89738025 0.49 [{'connected_gene': 'PIR35457', 'score': 550.77}, {'connected_gene': 'GC16M089739', 'score': 550.77}, {'connected_gene': 'SPIRE2', 'score': 22.01}, {'connected_gene': 'CDK10', 'score': 12.4}, {'connected_gene': 'FANCA', 'score': 11.85}, {'connected_gene': 'VPS9D1', 'score': 0.37}, {'connected_gene': 'ZNF276', 'score': 0.37}]
chr16 GH16I088985 88985025 88986540 0.49 [{'connected_gene': 'ENSG00000259989', 'score': 550.77}, {'connected_gene': 'PIR32035', 'score': 550.77}, {'connected_gene': 'ACSF3', 'score': 12.16}, {'connected_gene': 'CDK10', 'score': 5.92}, {'connected_gene': 'SPIRE2', 'score': 4.56}]
chr16 GH16I089612 89612437 89614540 0.54 [{'connected_gene': 'PIR32438', 'score': 550.77}, {'connected_gene': 'DPEP1', 'score': 550.77}, {'connected_gene': 'CHMP1A', 'score': 10.09}, {'connected_gene': 'CDK10', 'score': 7.83}, {'connected_gene': 'SPIRE2', 'score': 7.09}, {'connected_gene': 'GAS8-AS1', 'score': 7.04}, {'connected_gene': 'PIR44959', 'score': 0.29}]

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