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
ENST00000376067 [[85566143, 85566627], [85576138, 85576261], [85584253, 85584338], [85593555, 85593718], [85606335, 85606427], [85609989, 85610058], [85622323, 85622445], [85626461, 85626541], [85627073, 85627276], [85630391, 85631051]] [[85584287, 85584338], [85593555, 85593718], [85606335, 85606427], [85609989, 85610058], [85622323, 85622445], [85626461, 85626541], [85627073, 85627276], [85630391, 85630553]]
ENST00000280245 [[85566143, 85566627], [85576138, 85576261], [85584253, 85584338], [85593555, 85593718], [85597242, 85597410], [85606335, 85606427], [85609989, 85610058], [85622323, 85622445], [85623691, 85623784], [85626461, 85626541], [85627070, 85627276], [85630391, 85631064]] [[85576166, 85576261], [85584253, 85584338], [85593555, 85593718], [85597242, 85597410], [85606335, 85606427], [85609989, 85610058], [85622323, 85622445], [85623691, 85623784], [85626461, 85626541], [85627070, 85627276], [85630391, 85630553]]
ENST00000342404 [[85566439, 85566627], [85576138, 85576261], [85584253, 85584338], [85593555, 85593718], [85597242, 85597410], [85606335, 85606427], [85609989, 85610058], [85622323, 85622445], [85626461, 85626541], [85627070, 85627276], [85630391, 85631064]] [[85576166, 85576261], [85584253, 85584338], [85593555, 85593718], [85597242, 85597410], [85606335, 85606427], [85609989, 85610058], [85622323, 85622445], [85626461, 85626541], [85627070, 85627276], [85630391, 85630553]]
ENST00000529676 [[85584252, 85584338], [85606335, 85606427], [85609989, 85610058], [85622323, 85622445], [85626461, 85626485]] None
ENST00000526729 [[85584273, 85584338], [85593555, 85593718], [85606335, 85606427], [85609989, 85610058], [85622323, 85622445], [85626461, 85626541], [85627073, 85627276], [85630391, 85630626]] [[85584273, 85584338], [85593555, 85593718], [85606335, 85606427], [85609989, 85610058], [85622323, 85622445], [85626461, 85626541], [85627073, 85627276], [85630391, 85630553]]
NM_001286159 [[85566143, 85566627], [85576138, 85576261], [85584253, 85584338], [85593555, 85593718], [85597242, 85597410], [85606335, 85606427], [85609989, 85610058], [85622323, 85622445], [85626461, 85626541], [85627070, 85627276], [85630391, 85631064]] [[85576166, 85576261], [85584253, 85584338], [85593555, 85593718], [85597242, 85597410], [85606335, 85606427], [85609989, 85610058], [85622323, 85622445], [85626461, 85626541], [85627070, 85627276], [85630391, 85630553]]
NM_173556 [[85566143, 85566627], [85576138, 85576261], [85584253, 85584338], [85593555, 85593718], [85597242, 85597410], [85606335, 85606427], [85609989, 85610058], [85622323, 85622445], [85623691, 85623784], [85626461, 85626541], [85627070, 85627276], [85630391, 85631064]] [[85576166, 85576261], [85584253, 85584338], [85593555, 85593718], [85597242, 85597410], [85606335, 85606427], [85609989, 85610058], [85622323, 85622445], [85623691, 85623784], [85626461, 85626541], [85627070, 85627276], [85630391, 85630553]]
Promoter
Chrom Start End Description
chr11 85566422 85566455 CAGE_peak_1_at_CCDC83_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr11 GH11I085999 85999117 86000542 0.2 [{'connected_gene': 'EED', 'score': 11.0}, {'connected_gene': 'PICALM', 'score': 10.84}, {'connected_gene': 'HIKESHI', 'score': 10.59}, {'connected_gene': 'CCDC83', 'score': 10.33}, {'connected_gene': 'SLC25A1P1', 'score': 0.2}]
chr11 GH11I086041 86041203 86042899 1.07 [{'connected_gene': 'PICALM', 'score': 17.85}, {'connected_gene': 'EED', 'score': 11.59}, {'connected_gene': 'CCDC83', 'score': 11.41}, {'connected_gene': 'RNU6-560P', 'score': 11.38}, {'connected_gene': 'SLC25A1P1', 'score': 0.14}]
chr11 GH11I086060 86060988 86071370 2.32 [{'connected_gene': 'PICALM', 'score': 558.28}, {'connected_gene': 'CREBZF', 'score': 27.35}, {'connected_gene': 'EED', 'score': 26.48}, {'connected_gene': 'CCDC83', 'score': 10.99}, {'connected_gene': 'SLC25A1P1', 'score': 0.12}]
chr11 GH11I086035 86035959 86037049 0.49 [{'connected_gene': 'PICALM', 'score': 19.08}, {'connected_gene': 'CCDC83', 'score': 11.65}, {'connected_gene': 'EED', 'score': 11.59}, {'connected_gene': 'RNU6-560P', 'score': 11.28}, {'connected_gene': 'SLC25A1P1', 'score': 0.15}]
chr11 GH11I086134 86134339 86135700 1.56 [{'connected_gene': 'PICALM', 'score': 15.38}, {'connected_gene': 'CCDC83', 'score': 6.25}, {'connected_gene': 'EED', 'score': 1.81}, {'connected_gene': 'GC11P086154', 'score': 0.37}]
chr11 GH11I086138 86138274 86146321 1.7 [{'connected_gene': 'PICALM', 'score': 34.84}, {'connected_gene': 'CCDC83', 'score': 5.62}, {'connected_gene': 'SYTL2', 'score': 5.51}, {'connected_gene': 'HIKESHI', 'score': 5.08}, {'connected_gene': 'GC11P086154', 'score': 0.39}]
chr11 GH11I086043 86043231 86043764 0.63 [{'connected_gene': 'PICALM', 'score': 12.06}, {'connected_gene': 'RNU6-560P', 'score': 11.39}, {'connected_gene': 'CCDC83', 'score': 11.13}, {'connected_gene': 'EED', 'score': 11.04}, {'connected_gene': 'SLC25A1P1', 'score': 0.14}]
chr11 GH11I085961 85961182 85963060 0.84 [{'connected_gene': 'CREBZF', 'score': 25.35}, {'connected_gene': 'EED', 'score': 24.55}, {'connected_gene': 'CCDC83', 'score': 11.48}, {'connected_gene': 'LOC100289518', 'score': 10.68}, {'connected_gene': 'HIKESHI', 'score': 10.13}, {'connected_gene': 'CCDC89', 'score': 9.01}, {'connected_gene': 'PICALM', 'score': 7.38}, {'connected_gene': 'SLC25A1P1', 'score': 0.31}]
chr11 GH11I085821 85821218 85825024 0.88 [{'connected_gene': 'CREBZF', 'score': 11.25}, {'connected_gene': 'CCDC83', 'score': 10.78}, {'connected_gene': 'CCDC89', 'score': 9.97}, {'connected_gene': 'TMEM126A', 'score': 4.11}, {'connected_gene': 'SYTL2', 'score': 1.79}, {'connected_gene': 'EED', 'score': 1.73}, {'connected_gene': 'ENSG00000279742', 'score': 0.29}]
chr11 GH11I085786 85786204 85788814 1.09 [{'connected_gene': 'SYTL2', 'score': 14.1}, {'connected_gene': 'TMEM126B', 'score': 13.23}, {'connected_gene': 'CCDC89', 'score': 9.95}, {'connected_gene': 'CCDC83', 'score': 8.99}]
chr11 GH11I085716 85716001 85720953 2.21 [{'connected_gene': 'SYTL2', 'score': 581.65}, {'connected_gene': 'CCDC89', 'score': 10.88}, {'connected_gene': 'CREBZF', 'score': 10.86}, {'connected_gene': 'CCDC83', 'score': 6.55}, {'connected_gene': 'TMEM126A', 'score': 4.07}]
chr11 GH11I085813 85813111 85817761 0.89 [{'connected_gene': 'SYTL2', 'score': 13.63}, {'connected_gene': 'CCDC83', 'score': 9.49}, {'connected_gene': 'PICALM', 'score': 5.45}, {'connected_gene': 'ENSG00000279742', 'score': 0.28}]
chr11 GH11I085694 85694749 85696077 0.38 [{'connected_gene': 'SYTL2', 'score': 18.68}, {'connected_gene': 'CCDC83', 'score': 11.17}, {'connected_gene': 'DLG2', 'score': 10.1}, {'connected_gene': 'TMEM126B', 'score': 10.1}, {'connected_gene': 'HIKESHI', 'score': 9.13}, {'connected_gene': 'CCDC89', 'score': 5.15}]
chr11 GH11I085773 85773885 85775427 0.2 [{'connected_gene': 'SYTL2', 'score': 27.14}, {'connected_gene': 'CCDC83', 'score': 10.99}, {'connected_gene': 'CCDC89', 'score': 10.44}, {'connected_gene': 'CREBZF', 'score': 10.43}]
chr11 GH11I085808 85808872 85812041 2.29 [{'connected_gene': 'SYTL2', 'score': 578.23}, {'connected_gene': 'CCDC83', 'score': 8.54}, {'connected_gene': 'CCDC89', 'score': 6.29}]
chr11 GH11I085986 85986522 85991889 0.62 [{'connected_gene': 'HIKESHI', 'score': 10.37}, {'connected_gene': 'CCDC83', 'score': 10.2}, {'connected_gene': 'PICALM', 'score': 10.1}, {'connected_gene': 'SLC25A1P1', 'score': 0.23}]
chr11 GH11I086030 86030185 86031964 0.38 [{'connected_gene': 'CCDC83', 'score': 11.15}, {'connected_gene': 'EED', 'score': 10.85}, {'connected_gene': 'RNU6-560P', 'score': 10.46}, {'connected_gene': 'HIKESHI', 'score': 9.94}, {'connected_gene': 'PICALM', 'score': 0.28}, {'connected_gene': 'SLC25A1P1', 'score': 0.15}]
chr11 GH11I086021 86021062 86022115 1.15 [{'connected_gene': 'CCDC83', 'score': 10.91}, {'connected_gene': 'PICALM', 'score': 6.75}, {'connected_gene': 'HIKESHI', 'score': 4.5}, {'connected_gene': 'SLC25A1P1', 'score': 0.17}]
chr11 GH11I086053 86052401 86054991 1.2 [{'connected_gene': 'CCDC83', 'score': 11.23}, {'connected_gene': 'PICALM', 'score': 6.83}, {'connected_gene': 'SLC25A1P1', 'score': 0.13}]
chr11 GH11I085973 85973561 85974820 0.63 [{'connected_gene': 'CCDC83', 'score': 11.01}, {'connected_gene': 'PICALM', 'score': 5.67}, {'connected_gene': 'SLC25A1P1', 'score': 0.28}]
chr11 GH11I086047 86046601 86048663 0.99 [{'connected_gene': 'CCDC83', 'score': 11.4}, {'connected_gene': 'PICALM', 'score': 0.34}, {'connected_gene': 'SLC25A1P1', 'score': 0.14}]
chr11 GH11I086058 86058174 86060946 0.38 [{'connected_gene': 'CCDC83', 'score': 10.76}, {'connected_gene': 'PICALM', 'score': 0.39}, {'connected_gene': 'SLC25A1P1', 'score': 0.13}]
chr11 GH11I085825 85825443 85832874 1.29 [{'connected_gene': 'CCDC83', 'score': 25.43}, {'connected_gene': 'CREBZF', 'score': 10.18}, {'connected_gene': 'CCDC89', 'score': 10.18}, {'connected_gene': 'SYTL2', 'score': 6.73}, {'connected_gene': 'ENSG00000279742', 'score': 0.31}]
chr11 GH11I085846 85846930 85847554 0.31 [{'connected_gene': 'CCDC83', 'score': 13.85}, {'connected_gene': 'ENSG00000279742', 'score': 0.44}, {'connected_gene': 'SYTL2', 'score': 0.28}]
chr11 GH11I085843 85843351 85845609 1.24 [{'connected_gene': 'CCDC83', 'score': 13.51}, {'connected_gene': 'ENSG00000279742', 'score': 0.39}, {'connected_gene': 'SYTL2', 'score': 0.29}]
chr11 GH11I086006 86006571 86008646 0.64 [{'connected_gene': 'CCDC83', 'score': 11.42}, {'connected_gene': 'HIKESHI', 'score': 10.31}, {'connected_gene': 'PICALM', 'score': 7.91}, {'connected_gene': 'SLC25A1P1', 'score': 0.19}]
chr11 GH11I085965 85965098 85965793 0.46 [{'connected_gene': 'CCDC83', 'score': 11.11}, {'connected_gene': 'HIKESHI', 'score': 10.12}, {'connected_gene': 'SLC25A1P1', 'score': 0.29}, {'connected_gene': 'PICALM', 'score': 0.15}]
chr11 GH11I085967 85967892 85969467 0.63 [{'connected_gene': 'CCDC83', 'score': 11.06}, {'connected_gene': 'HIKESHI', 'score': 10.12}, {'connected_gene': 'SLC25A1P1', 'score': 0.29}, {'connected_gene': 'PICALM', 'score': 0.15}]
chr11 GH11I085695 85694498 85694627 0.49 [{'connected_gene': 'CCDC83', 'score': 10.81}, {'connected_gene': 'DLG2', 'score': 10.1}, {'connected_gene': 'TMEM126B', 'score': 10.1}, {'connected_gene': 'HIKESHI', 'score': 9.13}, {'connected_gene': 'CCDC89', 'score': 0.44}, {'connected_gene': 'SYTL2', 'score': 0.13}]
chr11 GH11I085854 85854001 85855858 2.04 [{'connected_gene': 'CCDC83', 'score': 566.72}, {'connected_gene': 'ENSG00000279742', 'score': 550.77}, {'connected_gene': 'CCDC89', 'score': 9.75}, {'connected_gene': 'CREBZF', 'score': 9.75}, {'connected_gene': 'SYTL2', 'score': 0.26}]
chr11 GH11I085837 85837243 85837899 0.2 [{'connected_gene': 'CCDC83', 'score': 11.97}, {'connected_gene': 'CCDC89', 'score': 9.92}, {'connected_gene': 'CREBZF', 'score': 9.92}, {'connected_gene': 'HIKESHI', 'score': 9.74}, {'connected_gene': 'ENSG00000279742', 'score': 0.37}, {'connected_gene': 'SYTL2', 'score': 0.31}]
chr11 GH11I085835 85835440 85836299 0.31 [{'connected_gene': 'CCDC83', 'score': 11.97}, {'connected_gene': 'CCDC89', 'score': 9.93}, {'connected_gene': 'CREBZF', 'score': 9.92}, {'connected_gene': 'HIKESHI', 'score': 9.74}, {'connected_gene': 'ENSG00000279742', 'score': 0.37}, {'connected_gene': 'SYTL2', 'score': 0.34}]
chr11 GH11I086155 86155240 86155917 0.82 [{'connected_gene': 'CCDC83', 'score': 5.21}, {'connected_gene': 'RNU6-560P', 'score': 0.77}, {'connected_gene': 'ENSG00000254699', 'score': 0.28}]
chr11 GH11I085889 85889714 85890653 0.7 [{'connected_gene': 'CCDC83', 'score': 25.79}, {'connected_gene': 'ENSG00000255005', 'score': 11.31}, {'connected_gene': 'AHCYP6', 'score': 0.29}]
chr11 GH11I085954 85954979 85956859 0.49 [{'connected_gene': 'CCDC83', 'score': 10.54}, {'connected_gene': 'SLC25A1P1', 'score': 0.34}, {'connected_gene': 'PICALM', 'score': 0.14}]
chr11 GH11I085867 85867562 85867642 0.2 [{'connected_gene': 'AHCYP6', 'score': 0.39}, {'connected_gene': 'CCDC83', 'score': 0.39}, {'connected_gene': 'ENSG00000255005', 'score': 0.22}]
chr11 GH11I086150 86150165 86153252 1.57 [{'connected_gene': 'GC11P086154', 'score': 550.77}, {'connected_gene': 'RNU6-560P', 'score': 550.77}, {'connected_gene': 'CCDC83', 'score': 4.59}, {'connected_gene': 'PICALM', 'score': 0.18}]
chr11 GH11I085875 85875598 85875767 0.6 [{'connected_gene': 'ENSG00000255005', 'score': 11.65}, {'connected_gene': 'AHCYP6', 'score': 0.37}, {'connected_gene': 'CCDC83', 'score': 0.34}]

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