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
ENST00000333371 [[91541645, 91542284], [91542906, 91543023], [91543129, 91543205], [91543719, 91543821], [91544618, 91544692], [91545279, 91545412], [91546314, 91546361], [91548106, 91548161], [91548284, 91548349], [91548609, 91548684], [91548923, 91549014], [91549202, 91549289], [91549601, 91549675], [91549881, 91549959], [91550179, 91550276], [91550698, 91550803], [91551099, 91551194], [91553030, 91553076], [91557033, 91557101], [91557613, 91557663], [91560192, 91560254], [91561034, 91561115], [91565383, 91565833]] [[91542204, 91542284], [91542906, 91543023], [91543129, 91543205], [91543719, 91543821], [91544618, 91544692], [91545279, 91545412], [91546314, 91546361], [91548106, 91548161], [91548284, 91548349], [91548609, 91548684], [91548923, 91549014], [91549202, 91549289], [91549601, 91549675], [91549881, 91549959], [91550179, 91550276], [91550698, 91550803], [91551099, 91551194], [91553030, 91553076], [91557033, 91557101], [91557613, 91557663], [91560192, 91560254], [91561034, 91561115], [91565383, 91565479]]
ENST00000557470 [[91541902, 91542284], [91543719, 91543821], [91544618, 91544663]] None
ENST00000535843 [[91541904, 91542284], [91542906, 91543023], [91543129, 91543205], [91543719, 91543821], [91544618, 91544692], [91545279, 91545412], [91546314, 91546361], [91548106, 91548161], [91548284, 91548349], [91548609, 91548684], [91548923, 91549014], [91549202, 91549289], [91549601, 91549675], [91549881, 91549959], [91550179, 91550276], [91550698, 91550803], [91551099, 91551194], [91553030, 91553076], [91557033, 91557101], [91557613, 91557663], [91561034, 91561115], [91565383, 91565743]] [[91542204, 91542284], [91542906, 91543023], [91543129, 91543205], [91543719, 91543821], [91544618, 91544692], [91545279, 91545412], [91546314, 91546361], [91548106, 91548161], [91548284, 91548349], [91548609, 91548684], [91548923, 91549014], [91549202, 91549289], [91549601, 91549675], [91549881, 91549959], [91550179, 91550276], [91550698, 91550803], [91551099, 91551194], [91553030, 91553076], [91557033, 91557101], [91557613, 91557629]]
ENST00000574755 [[91541904, 91542284], [91542906, 91543023], [91543129, 91543205], [91543719, 91543821], [91544618, 91544692], [91545279, 91545412], [91546314, 91546361], [91548106, 91548161], [91548284, 91548349], [91548609, 91548684], [91548923, 91549014], [91549202, 91549289], [91549601, 91549675], [91549881, 91549959], [91550179, 91550276], [91550698, 91550803], [91551099, 91551194], [91553030, 91553076], [91557033, 91557101], [91557613, 91557663], [91561034, 91561115], [91565383, 91565743]] [[91557085, 91557101], [91557613, 91557663], [91561034, 91561115], [91565383, 91565479]]
ENST00000535906 [[91541904, 91542284], [91542906, 91543023], [91543129, 91543205], [91543719, 91543821], [91544618, 91544692], [91545279, 91545412], [91546314, 91546361], [91548106, 91548161], [91548284, 91548349], [91548609, 91548684], [91548923, 91549014], [91549202, 91549289], [91549601, 91549675], [91549881, 91549959], [91550179, 91550276], [91550698, 91550803], [91551099, 91551194], [91553030, 91553076], [91557033, 91557101], [91557613, 91557663], [91560192, 91560254], [91565383, 91565826]] [[91542204, 91542284], [91542906, 91543023], [91543129, 91543205], [91543719, 91543821], [91544618, 91544692], [91545279, 91545412], [91546314, 91546361], [91548106, 91548161], [91548284, 91548349], [91548609, 91548684], [91548923, 91549014], [91549202, 91549289], [91549601, 91549675], [91549881, 91549959], [91550179, 91550276], [91550698, 91550803], [91551099, 91551194], [91553030, 91553076], [91557033, 91557101], [91557613, 91557663], [91560192, 91560254], [91565383, 91565479]]
ENST00000554660 [[91542560, 91543023], [91543129, 91543205], [91543719, 91544235]] None
ENST00000556096 [[91549230, 91549289], [91549601, 91550276], [91550698, 91550803], [91551099, 91551194], [91553030, 91553076], [91557033, 91557101], [91557613, 91557663], [91560192, 91560294], [91561034, 91561115], [91565383, 91565833]] None
ENST00000554264 [[91551131, 91551194], [91553030, 91553076], [91557033, 91557101], [91557613, 91557663], [91560192, 91560254], [91561034, 91561115], [91561247, 91561266]] None
ENST00000557358 [[91557033, 91557101], [91557613, 91557663], [91565383, 91565826]] None
NM_018668 [[91541645, 91542284], [91542906, 91543023], [91543129, 91543205], [91543719, 91543821], [91544618, 91544692], [91545279, 91545412], [91546314, 91546361], [91548106, 91548161], [91548284, 91548349], [91548609, 91548684], [91548923, 91549014], [91549202, 91549289], [91549601, 91549675], [91549881, 91549959], [91550179, 91550276], [91550698, 91550803], [91551099, 91551194], [91553030, 91553076], [91557033, 91557101], [91557613, 91557663], [91560192, 91560254], [91561034, 91561115], [91565383, 91565851]] [[91542204, 91542284], [91542906, 91543023], [91543129, 91543205], [91543719, 91543821], [91544618, 91544692], [91545279, 91545412], [91546314, 91546361], [91548106, 91548161], [91548284, 91548349], [91548609, 91548684], [91548923, 91549014], [91549202, 91549289], [91549601, 91549675], [91549881, 91549959], [91550179, 91550276], [91550698, 91550803], [91551099, 91551194], [91553030, 91553076], [91557033, 91557101], [91557613, 91557663], [91560192, 91560254], [91561034, 91561115], [91565383, 91565479]]
NM_001289149 [[91541645, 91542284], [91542906, 91543023], [91543129, 91543205], [91543719, 91543821], [91544618, 91544692], [91545279, 91545412], [91546314, 91546361], [91548106, 91548161], [91548284, 91548349], [91548609, 91548684], [91548923, 91549014], [91549202, 91549289], [91549601, 91549675], [91549881, 91549959], [91550179, 91550276], [91550698, 91550803], [91551099, 91551194], [91553030, 91553076], [91557033, 91557101], [91557613, 91557663], [91561034, 91561115], [91565383, 91565851]] [[91542204, 91542284], [91542906, 91543023], [91543129, 91543205], [91543719, 91543821], [91544618, 91544692], [91545279, 91545412], [91546314, 91546361], [91548106, 91548161], [91548284, 91548349], [91548609, 91548684], [91548923, 91549014], [91549202, 91549289], [91549601, 91549675], [91549881, 91549959], [91550179, 91550276], [91550698, 91550803], [91551099, 91551194], [91553030, 91553076], [91557033, 91557101], [91557613, 91557629]]
NM_001289148 [[91541645, 91542284], [91542906, 91543023], [91543129, 91543205], [91543719, 91543821], [91544618, 91544692], [91545279, 91545412], [91546314, 91546361], [91548106, 91548161], [91548284, 91548349], [91548609, 91548684], [91548923, 91549014], [91549202, 91549289], [91549601, 91549675], [91549881, 91549959], [91550179, 91550276], [91550698, 91550803], [91551099, 91551194], [91553030, 91553076], [91557033, 91557101], [91557613, 91557663], [91560192, 91560254], [91565383, 91565851]] [[91542204, 91542284], [91542906, 91543023], [91543129, 91543205], [91543719, 91543821], [91544618, 91544692], [91545279, 91545412], [91546314, 91546361], [91548106, 91548161], [91548284, 91548349], [91548609, 91548684], [91548923, 91549014], [91549202, 91549289], [91549601, 91549675], [91549881, 91549959], [91550179, 91550276], [91550698, 91550803], [91551099, 91551194], [91553030, 91553076], [91557033, 91557101], [91557613, 91557663], [91560192, 91560254], [91565383, 91565479]]
Promoter
Chrom Start End Description
chr15 91565751 91565764 CAGE_peak_2_at_VPS33B_5end
chr15 91565770 91565840 CAGE_peak_1_at_VPS33B_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr15 GH15I090981 90981579 90982552 0.65 [{'connected_gene': 'RCCD1', 'score': 13.11}, {'connected_gene': 'VPS33B', 'score': 7.0}, {'connected_gene': 'GC15M090978', 'score': 0.77}, {'connected_gene': 'ENSG00000200142', 'score': 0.77}, {'connected_gene': 'PRC1', 'score': 0.39}, {'connected_gene': 'PRC1-AS1', 'score': 0.37}, {'connected_gene': 'GC15P090938', 'score': 0.26}]
chr15 GH15I090989 90989201 90989400 0.43 [{'connected_gene': 'RCCD1', 'score': 27.87}, {'connected_gene': 'VPS33B', 'score': 12.3}, {'connected_gene': 'VPS33B-DT', 'score': 12.3}, {'connected_gene': 'PRC1', 'score': 0.44}, {'connected_gene': 'GC15M090978', 'score': 0.39}, {'connected_gene': 'ENSG00000200142', 'score': 0.39}, {'connected_gene': 'GC15P090938', 'score': 0.23}]
chr15 GH15I090988 90988202 90989000 0.79 [{'connected_gene': 'RCCD1', 'score': 46.73}, {'connected_gene': 'VPS33B-DT', 'score': 17.13}, {'connected_gene': 'VPS33B', 'score': 12.3}, {'connected_gene': 'PRC1', 'score': 0.44}, {'connected_gene': 'GC15M090978', 'score': 0.39}, {'connected_gene': 'ENSG00000200142', 'score': 0.39}, {'connected_gene': 'PRC1-AS1', 'score': 0.34}, {'connected_gene': 'GC15P090938', 'score': 0.23}]
chr15 GH15I090991 90991504 90995844 2.3 [{'connected_gene': 'PRC1', 'score': 550.77}, {'connected_gene': 'RCCD1', 'score': 46.84}, {'connected_gene': 'UNC45A', 'score': 25.72}, {'connected_gene': 'VPS33B', 'score': 23.6}, {'connected_gene': 'VPS33B-DT', 'score': 17.75}, {'connected_gene': 'ENSG00000259212', 'score': 13.85}, {'connected_gene': 'ENSG00000259314', 'score': 10.75}, {'connected_gene': 'FES', 'score': 5.49}, {'connected_gene': 'GC15M090978', 'score': 0.37}, {'connected_gene': 'ENSG00000200142', 'score': 0.37}, {'connected_gene': 'GC15P090938', 'score': 0.22}]
chr15 GH15I090398 90398202 90409399 1.77 [{'connected_gene': 'IQGAP1', 'score': 35.3}, {'connected_gene': 'ZNF774', 'score': 24.07}, {'connected_gene': 'CRTC3', 'score': 16.89}, {'connected_gene': 'RPL36AP43', 'score': 12.02}, {'connected_gene': 'ENSG00000259212', 'score': 11.41}, {'connected_gene': 'GABARAPL3', 'score': 11.23}, {'connected_gene': 'VPS33B', 'score': 10.59}, {'connected_gene': 'ARPIN', 'score': 10.45}, {'connected_gene': 'CIB1', 'score': 4.43}, {'connected_gene': 'ZNF710', 'score': 3.98}, {'connected_gene': 'FES', 'score': 2.29}, {'connected_gene': 'GDPGP1', 'score': 1.14}, {'connected_gene': 'ENSG00000259177', 'score': 0.44}, {'connected_gene': 'GC15P090381', 'score': 0.34}, {'connected_gene': 'GC15P090443', 'score': 0.28}]
chr15 GH15I090392 90392107 90395200 0.94 [{'connected_gene': 'IQGAP1', 'score': 30.84}, {'connected_gene': 'ZNF774', 'score': 25.74}, {'connected_gene': 'ENSG00000259212', 'score': 11.41}, {'connected_gene': 'GABARAPL3', 'score': 10.7}, {'connected_gene': 'VPS33B', 'score': 10.6}, {'connected_gene': 'NGRN', 'score': 9.6}, {'connected_gene': 'ENSG00000259177', 'score': 0.77}, {'connected_gene': 'GC15P090381', 'score': 0.39}]
chr15 GH15I091750 91750231 91750405 0.51 [{'connected_gene': 'HMGN1P38', 'score': 14.94}, {'connected_gene': 'UNC45A', 'score': 13.68}, {'connected_gene': 'VPS33B', 'score': 10.59}, {'connected_gene': 'LOC100421632', 'score': 0.44}, {'connected_gene': 'SLCO3A1', 'score': 0.15}]
chr15 GH15I090901 90901159 90904377 2.31 [{'connected_gene': 'MAN2A2', 'score': 559.23}, {'connected_gene': 'GC15P090903', 'score': 550.77}, {'connected_gene': 'UNC45A', 'score': 21.21}, {'connected_gene': 'NIFKP5', 'score': 13.93}, {'connected_gene': 'ENSG00000228998', 'score': 10.96}, {'connected_gene': 'VPS33B', 'score': 10.76}, {'connected_gene': 'RCCD1', 'score': 7.62}, {'connected_gene': 'CIB1', 'score': 4.53}, {'connected_gene': 'GC15M090902', 'score': 0.39}]
chr15 GH15I091468 91468660 91470916 1.2 [{'connected_gene': 'MAN2A2', 'score': 4.36}, {'connected_gene': 'VPS33B', 'score': 1.92}, {'connected_gene': 'SLCO3A1', 'score': 1.87}, {'connected_gene': 'GC15P091451', 'score': 0.37}, {'connected_gene': 'CRAT37', 'score': 0.21}, {'connected_gene': 'ENSG00000258954', 'score': 0.21}]
chr15 GH15I090028 90028134 90041799 1.75 [{'connected_gene': 'ZNF710', 'score': 19.95}, {'connected_gene': 'IQGAP1', 'score': 18.89}, {'connected_gene': 'VPS33B', 'score': 10.66}, {'connected_gene': 'AP3S2', 'score': 3.37}, {'connected_gene': 'SEMA4B', 'score': 2.22}, {'connected_gene': 'ANPEP', 'score': 1.46}, {'connected_gene': 'ENSG00000273691', 'score': 0.39}, {'connected_gene': 'PIR55871', 'score': 0.29}]
chr15 GH15I090851 90851213 90851424 0.67 [{'connected_gene': 'VPS33B', 'score': 2.18}, {'connected_gene': 'CRTC3', 'score': 2.11}, {'connected_gene': 'UNC45A', 'score': 1.32}, {'connected_gene': 'GC15P090858', 'score': 0.77}, {'connected_gene': 'RN7SL363P', 'score': 0.77}, {'connected_gene': 'LOC105370969', 'score': 0.39}]
chr15 GH15I091021 91021360 91023342 2.04 [{'connected_gene': 'VPS33B', 'score': 562.13}, {'connected_gene': 'VPS33B-DT', 'score': 550.77}, {'connected_gene': 'ENSG00000278514', 'score': 550.77}, {'connected_gene': 'UNC45A', 'score': 31.76}, {'connected_gene': 'ENSG00000259314', 'score': 23.79}, {'connected_gene': 'RCCD1', 'score': 18.07}, {'connected_gene': 'CRTC3', 'score': 10.32}, {'connected_gene': 'LOC105370970', 'score': 0.39}, {'connected_gene': 'GC15P090938', 'score': 0.18}]
chr15 GH15I090986 90986931 90987080 0.6 [{'connected_gene': 'VPS33B', 'score': 12.3}, {'connected_gene': 'VPS33B-DT', 'score': 12.3}, {'connected_gene': 'HDDC3', 'score': 10.95}, {'connected_gene': 'ENSG00000224441', 'score': 10.95}, {'connected_gene': 'UNC45A', 'score': 10.94}, {'connected_gene': 'GC15M090978', 'score': 0.44}, {'connected_gene': 'PRC1', 'score': 0.44}, {'connected_gene': 'ENSG00000200142', 'score': 0.44}, {'connected_gene': 'PRC1-AS1', 'score': 0.34}, {'connected_gene': 'GC15P090938', 'score': 0.25}]
chr15 GH15I090774 90774894 90776036 0.69 [{'connected_gene': 'FES', 'score': 12.45}, {'connected_gene': 'BLM', 'score': 10.84}, {'connected_gene': 'CRTC3', 'score': 10.58}, {'connected_gene': 'VPS33B', 'score': 5.66}, {'connected_gene': 'GC15M090790', 'score': 0.37}, {'connected_gene': 'ENSG00000200677', 'score': 0.34}, {'connected_gene': 'GC15M090756', 'score': 0.34}]
chr15 GH15I090855 90855948 90858200 1.3 [{'connected_gene': 'RN7SL363P', 'score': 550.77}, {'connected_gene': 'ENSG00000259314', 'score': 11.35}, {'connected_gene': 'RCCD1', 'score': 11.21}, {'connected_gene': 'ENSG00000259212', 'score': 10.62}, {'connected_gene': 'FES', 'score': 9.79}, {'connected_gene': 'VPS33B', 'score': 3.3}, {'connected_gene': 'CRTC3', 'score': 2.46}, {'connected_gene': 'GC15P090862', 'score': 0.44}]
chr15 GH15I090835 90835911 90842736 1.71 [{'connected_gene': 'LOC105370969', 'score': 559.05}, {'connected_gene': 'UNC45A', 'score': 24.0}, {'connected_gene': 'FES', 'score': 20.55}, {'connected_gene': 'BLM', 'score': 17.98}, {'connected_gene': 'FURIN', 'score': 13.79}, {'connected_gene': 'VPS33B-DT', 'score': 13.57}, {'connected_gene': 'LOC100631255', 'score': 12.19}, {'connected_gene': 'MAN2A2', 'score': 11.75}, {'connected_gene': 'HDDC3', 'score': 11.42}, {'connected_gene': 'ENSG00000259314', 'score': 11.27}, {'connected_gene': 'ENSG00000200677', 'score': 11.01}, {'connected_gene': 'VPS33B', 'score': 10.72}, {'connected_gene': 'CRTC3', 'score': 1.97}, {'connected_gene': 'IQGAP1', 'score': 1.32}, {'connected_gene': 'GC15M090794', 'score': 0.37}]

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