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
ENST00000598810 [[49843851, 49844694], [49845694, 49845847], [49846487, 49846655], [49850446, 49850620], [49851959, 49852102], [49854557, 49854622], [49858404, 49858463], [49858568, 49858676], [49859215, 49859227], [49860508, 49860571], [49862691, 49862756], [49863100, 49863338], [49864652, 49864752]] [[49844580, 49844694], [49845694, 49845847], [49846487, 49846655], [49850446, 49850620], [49851959, 49852102], [49854557, 49854622], [49858404, 49858463], [49858568, 49858676], [49859215, 49859227], [49860508, 49860571], [49862691, 49862756], [49863100, 49863332]]
ENST00000593945 [[49843851, 49844694], [49845694, 49845847], [49846487, 49846655], [49850446, 49850620], [49851959, 49852102], [49854557, 49854622], [49858404, 49858463], [49858568, 49858676], [49859215, 49859227], [49860508, 49860571], [49862691, 49862756], [49863100, 49863338], [49865589, 49865639]] [[49844580, 49844694], [49845694, 49845847], [49846487, 49846655], [49850446, 49850620], [49851959, 49852102], [49854557, 49854622], [49858404, 49858463], [49858568, 49858676], [49859215, 49859227], [49860508, 49860571], [49862691, 49862756], [49863100, 49863332]]
ENST00000601519 [[49843851, 49844694], [49845694, 49845847], [49846487, 49846655], [49850446, 49850620], [49851959, 49852102], [49854557, 49854622], [49858404, 49858463], [49858559, 49858676], [49860508, 49860571], [49862691, 49862756], [49863100, 49863338], [49865585, 49865664]] [[49844580, 49844694], [49845694, 49845847], [49846487, 49846655], [49850446, 49850620], [49851959, 49852102], [49854557, 49854622], [49858404, 49858463], [49858559, 49858676], [49860508, 49860571], [49862691, 49862756], [49863100, 49863332]]
ENST00000311227 [[49843851, 49844694], [49845694, 49845847], [49846487, 49846655], [49850446, 49850620], [49851959, 49852102], [49854557, 49854622], [49858404, 49858463], [49858568, 49858676], [49860508, 49860571], [49862691, 49862756], [49863100, 49863338], [49865629, 49865714]] [[49844580, 49844694], [49845694, 49845847], [49846487, 49846655], [49850446, 49850620], [49851959, 49852102], [49854557, 49854622], [49858404, 49858463], [49858568, 49858676], [49860508, 49860571], [49862691, 49862756], [49863100, 49863332]]
ENST00000377214 [[49843856, 49844694], [49845694, 49845847], [49846487, 49846655], [49850446, 49850620], [49851959, 49852102], [49854557, 49854622], [49858404, 49858463], [49858559, 49858676], [49860508, 49860571], [49862691, 49862756], [49863100, 49863695]] [[49844580, 49844694], [49845694, 49845847], [49846487, 49846655], [49850446, 49850620], [49851959, 49852102], [49854557, 49854622], [49858404, 49858463], [49858559, 49858676], [49860508, 49860571], [49862691, 49862756], [49863100, 49863332]]
ENST00000539846 [[49844338, 49844694], [49845694, 49845847], [49846487, 49846655], [49850446, 49850620], [49851959, 49852102], [49854557, 49854622], [49858404, 49858463], [49858559, 49858676], [49859215, 49859227], [49860508, 49860571], [49862691, 49862756], [49865629, 49865698]] [[49844580, 49844694], [49845694, 49845847], [49846487, 49846655], [49850446, 49850620], [49851959, 49852102], [49854557, 49854622], [49858404, 49858463], [49858559, 49858643]]
ENST00000598823 [[49850480, 49850620], [49851959, 49852102], [49852213, 49852316], [49858404, 49858463], [49858559, 49858676], [49860508, 49860512]] [[49852273, 49852316], [49858404, 49858463], [49858559, 49858676], [49860508, 49860512]]
ENST00000598397 [[49850489, 49850681], [49851959, 49852102], [49854557, 49854622], [49858404, 49858463], [49858559, 49858676], [49860508, 49860513]] None
ENST00000596757 [[49850613, 49850620], [49851959, 49852102], [49854557, 49854622], [49858404, 49858463], [49858568, 49858676], [49860508, 49860571], [49862691, 49862756], [49865629, 49865698]] [[49850613, 49850620], [49851959, 49852102], [49854557, 49854622], [49858404, 49858463], [49858568, 49858643]]
ENST00000595233 [[49862561, 49862756], [49863100, 49863114]] None
NM_001256661 [[49843851, 49844694], [49845694, 49845847], [49846487, 49846655], [49850446, 49850620], [49851959, 49852102], [49854557, 49854622], [49858404, 49858463], [49858568, 49858676], [49859215, 49859227], [49860508, 49860571], [49862691, 49862756], [49863100, 49863338], [49864652, 49864752]] [[49844580, 49844694], [49845694, 49845847], [49846487, 49846655], [49850446, 49850620], [49851959, 49852102], [49854557, 49854622], [49858404, 49858463], [49858568, 49858676], [49859215, 49859227], [49860508, 49860571], [49862691, 49862756], [49863100, 49863332]]
NM_001256658 [[49843851, 49844694], [49845694, 49845847], [49846487, 49846655], [49850446, 49850620], [49851959, 49852102], [49854557, 49854622], [49858404, 49858463], [49858559, 49858676], [49860508, 49860571], [49862691, 49862756], [49863100, 49863338], [49865585, 49865714]] [[49844580, 49844694], [49845694, 49845847], [49846487, 49846655], [49850446, 49850620], [49851959, 49852102], [49854557, 49854622], [49858404, 49858463], [49858559, 49858676], [49860508, 49860571], [49862691, 49862756], [49863100, 49863332]]
NM_001256660 [[49843851, 49844694], [49845694, 49845847], [49846487, 49846655], [49850446, 49850620], [49851959, 49852102], [49854557, 49854622], [49858404, 49858463], [49858568, 49858676], [49859215, 49859227], [49860508, 49860571], [49862691, 49862756], [49863100, 49863338], [49865589, 49865714]] [[49844580, 49844694], [49845694, 49845847], [49846487, 49846655], [49850446, 49850620], [49851959, 49852102], [49854557, 49854622], [49858404, 49858463], [49858568, 49858676], [49859215, 49859227], [49860508, 49860571], [49862691, 49862756], [49863100, 49863332]]
NM_001256659 [[49843851, 49844694], [49845694, 49845847], [49846487, 49846655], [49850446, 49850620], [49851959, 49852102], [49854557, 49854622], [49858404, 49858463], [49858559, 49858676], [49860508, 49860571], [49862691, 49862756], [49863100, 49863338], [49865629, 49865714]] [[49844580, 49844694], [49845694, 49845847], [49846487, 49846655], [49850446, 49850620], [49851959, 49852102], [49854557, 49854622], [49858404, 49858463], [49858559, 49858676], [49860508, 49860571], [49862691, 49862756], [49863100, 49863332]]
NM_003598 [[49843851, 49844694], [49845694, 49845847], [49846487, 49846655], [49850446, 49850620], [49851959, 49852102], [49854557, 49854622], [49858404, 49858463], [49858568, 49858676], [49860508, 49860571], [49862691, 49862756], [49863100, 49863338], [49865629, 49865714]] [[49844580, 49844694], [49845694, 49845847], [49846487, 49846655], [49850446, 49850620], [49851959, 49852102], [49854557, 49854622], [49858404, 49858463], [49858568, 49858676], [49860508, 49860571], [49862691, 49862756], [49863100, 49863332]]
NM_001256662 [[49843851, 49844694], [49845694, 49845847], [49846487, 49846655], [49850446, 49850620], [49851959, 49852102], [49854557, 49854622], [49858404, 49858463], [49858559, 49858676], [49859215, 49859227], [49860508, 49860571], [49862691, 49862756], [49865629, 49865714]] [[49844580, 49844694], [49845694, 49845847], [49846487, 49846655], [49850446, 49850620], [49851959, 49852102], [49854557, 49854622], [49858404, 49858463], [49858559, 49858643]]
Promoter
Chrom Start End Description
chr19 49864746 49864780 CAGE_peak_2_at_TEAD2_5end
chr19 49865646 49865718 CAGE_peak_1_at_TEAD2_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr19 GH19I048588 48588601 48589813 1.73 [{'connected_gene': 'GRWD1', 'score': 33.13}, {'connected_gene': 'BICRA', 'score': 27.98}, {'connected_gene': 'NOP53-AS1', 'score': 25.82}, {'connected_gene': 'SULT2B1', 'score': 18.97}, {'connected_gene': 'SNORD35A', 'score': 13.89}, {'connected_gene': 'KDELR1', 'score': 13.65}, {'connected_gene': 'ENSG00000268746', 'score': 13.12}, {'connected_gene': 'ALDH16A1', 'score': 13.04}, {'connected_gene': 'SNRNP70', 'score': 12.43}, {'connected_gene': 'TEAD2', 'score': 12.15}, {'connected_gene': 'EHD2', 'score': 11.95}, {'connected_gene': 'NOP53', 'score': 11.74}, {'connected_gene': 'ENSG00000268157', 'score': 11.56}, {'connected_gene': 'FLT3LG', 'score': 10.83}, {'connected_gene': 'RPS11', 'score': 10.7}, {'connected_gene': 'SNORD35B', 'score': 10.36}, {'connected_gene': 'RPL13A', 'score': 10.33}, {'connected_gene': 'CYTH2', 'score': 9.84}, {'connected_gene': 'RASIP1', 'score': 9.76}, {'connected_gene': 'PIH1D1', 'score': 9.74}, {'connected_gene': 'FUT2', 'score': 4.79}, {'connected_gene': 'NTN5', 'score': 4.77}, {'connected_gene': 'SPHK2', 'score': 2.61}, {'connected_gene': 'BCAT2', 'score': 2.54}, {'connected_gene': 'CA11', 'score': 1.94}, {'connected_gene': 'KCNJ14', 'score': 1.91}, {'connected_gene': 'DBP', 'score': 1.5}, {'connected_gene': 'MAMSTR', 'score': 1.49}, {'connected_gene': 'TMEM143', 'score': 1.43}, {'connected_gene': 'SPACA4', 'score': 0.37}]
chr19 GH19I048644 48644461 48647399 2.08 [{'connected_gene': 'CA11', 'score': 550.77}, {'connected_gene': 'GRWD1', 'score': 53.8}, {'connected_gene': 'SNORD35A', 'score': 47.54}, {'connected_gene': 'NOP53-AS1', 'score': 43.1}, {'connected_gene': 'ALDH16A1', 'score': 42.88}, {'connected_gene': 'SNORD35B', 'score': 39.55}, {'connected_gene': 'PRR12', 'score': 35.44}, {'connected_gene': 'NOP53', 'score': 32.36}, {'connected_gene': 'RPS11', 'score': 30.59}, {'connected_gene': 'SNRNP70', 'score': 30.36}, {'connected_gene': 'RPL13A', 'score': 29.34}, {'connected_gene': 'KDELR1', 'score': 22.57}, {'connected_gene': 'EHD2', 'score': 21.16}, {'connected_gene': 'SEC1P', 'score': 15.78}, {'connected_gene': 'ENSG00000268093', 'score': 12.92}, {'connected_gene': 'TRPM4', 'score': 12.6}, {'connected_gene': 'TEAD2', 'score': 12.15}, {'connected_gene': 'PIH1D1', 'score': 11.92}, {'connected_gene': 'RPL18', 'score': 11.83}, {'connected_gene': 'ENSG00000268157', 'score': 11.56}, {'connected_gene': 'BAX', 'score': 11.06}, {'connected_gene': 'RRAS', 'score': 10.99}, {'connected_gene': 'CARD8', 'score': 10.92}, {'connected_gene': 'FLT3LG', 'score': 10.83}, {'connected_gene': 'CYTH2', 'score': 9.81}, {'connected_gene': 'SNORD23', 'score': 9.76}, {'connected_gene': 'FAM83E', 'score': 5.98}]
chr19 GH19I049359 49359931 49364731 2.21 [{'connected_gene': 'DKKL1', 'score': 591.95}, {'connected_gene': 'TEAD2', 'score': 550.77}, {'connected_gene': 'CCDC155', 'score': 32.62}, {'connected_gene': 'LOC400710', 'score': 4.51}]
chr19 GH19I048500 48500386 48502902 1.42 [{'connected_gene': 'SNORD35A', 'score': 48.64}, {'connected_gene': 'ALDH16A1', 'score': 47.61}, {'connected_gene': 'SNORD35B', 'score': 42.35}, {'connected_gene': 'NOP53-AS1', 'score': 41.01}, {'connected_gene': 'NOP53', 'score': 34.9}, {'connected_gene': 'KDELR1', 'score': 34.48}, {'connected_gene': 'GRWD1', 'score': 33.92}, {'connected_gene': 'BICRA', 'score': 32.17}, {'connected_gene': 'RPL13A', 'score': 31.69}, {'connected_gene': 'RPS11', 'score': 30.71}, {'connected_gene': 'PIH1D1', 'score': 18.74}, {'connected_gene': 'SNORD23', 'score': 17.8}, {'connected_gene': 'CYTH2', 'score': 16.17}, {'connected_gene': 'RPL18', 'score': 13.82}, {'connected_gene': 'ENSG00000268746', 'score': 13.12}, {'connected_gene': 'TEAD2', 'score': 12.15}, {'connected_gene': 'EHD2', 'score': 11.96}, {'connected_gene': 'ENSG00000268157', 'score': 11.56}, {'connected_gene': 'SNRNP70', 'score': 11.28}, {'connected_gene': 'BAX', 'score': 11.05}, {'connected_gene': 'BCAT2', 'score': 10.98}, {'connected_gene': 'CARD8', 'score': 10.93}, {'connected_gene': 'FLT3LG', 'score': 10.83}, {'connected_gene': 'GRIN2D', 'score': 5.45}, {'connected_gene': 'ENSG00000269814', 'score': 0.39}, {'connected_gene': 'LMTK3', 'score': 0.39}, {'connected_gene': 'GC19P048479', 'score': 0.34}]
chr19 GH19I049344 49344624 49344773 0.31 [{'connected_gene': 'CCDC155', 'score': 17.2}, {'connected_gene': 'ENSG00000197813', 'score': 0.77}, {'connected_gene': 'ENSG00000268157', 'score': 0.39}, {'connected_gene': 'TEAD2', 'score': 0.37}]
chr19 GH19I048395 48395557 48401881 1.55 [{'connected_gene': 'KDELR1', 'score': 572.99}, {'connected_gene': 'NOP53-AS1', 'score': 43.24}, {'connected_gene': 'GRWD1', 'score': 42.81}, {'connected_gene': 'BICRA', 'score': 42.43}, {'connected_gene': 'NOP53', 'score': 21.98}, {'connected_gene': 'CYTH2', 'score': 20.28}, {'connected_gene': 'SNORD23', 'score': 17.8}, {'connected_gene': 'ENSG00000268746', 'score': 13.12}, {'connected_gene': 'CCDC114', 'score': 12.37}, {'connected_gene': 'TEAD2', 'score': 12.15}, {'connected_gene': 'SNRNP70', 'score': 11.99}, {'connected_gene': 'EHD2', 'score': 11.96}, {'connected_gene': 'ENSG00000268157', 'score': 11.56}, {'connected_gene': 'GRIN2D', 'score': 11.18}, {'connected_gene': 'BAX', 'score': 11.03}, {'connected_gene': 'CARD8', 'score': 10.97}, {'connected_gene': 'PPP1R15A', 'score': 4.73}, {'connected_gene': 'CARD8-AS1', 'score': 4.56}, {'connected_gene': 'EMP3', 'score': 1.74}, {'connected_gene': 'FUT1', 'score': 1.46}, {'connected_gene': 'IZUMO1', 'score': 1.26}]
chr19 GH19I049347 49347944 49348113 0.78 [{'connected_gene': 'ENSG00000197813', 'score': 0.44}, {'connected_gene': 'ENSG00000268157', 'score': 0.44}, {'connected_gene': 'TEAD2', 'score': 0.39}]
chr19 GH19I049355 49355597 49357759 0.92 [{'connected_gene': 'ENSG00000268157', 'score': 550.77}, {'connected_gene': 'NUP62', 'score': 15.21}, {'connected_gene': 'ENSG00000268047', 'score': 14.3}, {'connected_gene': 'SNRNP70', 'score': 14.1}, {'connected_gene': 'GRWD1', 'score': 14.0}, {'connected_gene': 'PRR12', 'score': 13.95}, {'connected_gene': 'ADM5', 'score': 11.53}, {'connected_gene': 'PTOV1-AS2', 'score': 11.19}, {'connected_gene': 'PIH1D1', 'score': 10.84}, {'connected_gene': 'ENSG00000268093', 'score': 10.76}, {'connected_gene': 'CYTH2', 'score': 10.72}, {'connected_gene': 'SNORD35A', 'score': 10.02}, {'connected_gene': 'ZNF473', 'score': 9.75}, {'connected_gene': 'TMEM143', 'score': 4.56}, {'connected_gene': 'DKKL1', 'score': 0.77}, {'connected_gene': 'TEAD2', 'score': 0.44}]
chr19 GH19I049339 49338504 49341801 1.68 [{'connected_gene': 'ENSG00000197813', 'score': 550.77}, {'connected_gene': 'CCDC155', 'score': 18.44}, {'connected_gene': 'GRWD1', 'score': 14.62}, {'connected_gene': 'AKT1S1', 'score': 11.25}, {'connected_gene': 'PRR12', 'score': 11.15}, {'connected_gene': 'NUP62', 'score': 10.41}, {'connected_gene': 'CYTH2', 'score': 9.74}, {'connected_gene': 'CD37', 'score': 0.77}, {'connected_gene': 'TEAD2', 'score': 0.34}]

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