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
ENST00000323798 [[49471381, 49472868], [49473031, 49473112], [49473802, 49473966], [49474184, 49474280], [49477469, 49477596], [49477876, 49477990], [49481180, 49481259], [49481354, 49481414], [49484786, 49484893], [49485511, 49485632], [49485976, 49486094], [49488717, 49488862], [49489106, 49489292], [49490450, 49490642], [49494558, 49494740], [49496251, 49496566]] [[49472544, 49472868], [49473031, 49473112], [49473802, 49473966], [49474184, 49474280], [49477469, 49477596], [49477876, 49477990], [49481180, 49481259], [49481354, 49481414], [49484786, 49484893], [49485511, 49485632], [49485976, 49486094], [49488717, 49488862], [49489106, 49489292], [49490450, 49490642], [49494558, 49494740], [49496251, 49496369]]
ENST00000263276 [[49471386, 49472868], [49473031, 49473112], [49473802, 49473966], [49474184, 49474280], [49477469, 49477596], [49477876, 49477990], [49481180, 49481259], [49481354, 49481414], [49484786, 49484893], [49485511, 49485632], [49485976, 49486094], [49488717, 49488862], [49489106, 49489292], [49494558, 49494740], [49496251, 49496567]] [[49472544, 49472868], [49473031, 49473112], [49473802, 49473966], [49474184, 49474280], [49477469, 49477596], [49477876, 49477990], [49481180, 49481259], [49481354, 49481414], [49484786, 49484893], [49485511, 49485632], [49485976, 49486094], [49488717, 49488862], [49489106, 49489292], [49494558, 49494740], [49496251, 49496369]]
ENST00000541188 [[49472212, 49472868], [49473031, 49473112], [49473802, 49473966], [49474184, 49474280], [49477469, 49477596], [49477876, 49477990], [49481180, 49481259], [49481354, 49481414], [49484786, 49484893], [49485511, 49485632], [49485976, 49486094], [49488717, 49488862], [49489106, 49489292], [49490450, 49490642], [49496251, 49496566]] [[49472544, 49472868], [49473031, 49473112], [49473802, 49473966], [49474184, 49474280], [49477469, 49477596], [49477876, 49477990], [49481180, 49481259], [49481354, 49481414], [49484786, 49484893], [49485511, 49485632], [49485976, 49486094], [49488717, 49488862], [49489106, 49489292], [49490450, 49490642], [49496251, 49496311]]
ENST00000544287 [[49472412, 49472868], [49473031, 49473112], [49473802, 49473966], [49474184, 49474280], [49477469, 49477596], [49477876, 49477990], [49481180, 49481259], [49481354, 49481414], [49484786, 49484893], [49485511, 49485632], [49496468, 49496566]] [[49472544, 49472868], [49473031, 49473112], [49473802, 49473966], [49474184, 49474280], [49477469, 49477596], [49477876, 49477990], [49481180, 49481259], [49481354, 49481414], [49484786, 49484854]]
ENST00000594220 [[49473539, 49473966]] [[49473625, 49473966]]
ENST00000472004 [[49474006, 49474280], [49477469, 49477596], [49477876, 49477990], [49481180, 49481243]] None
ENST00000496048 [[49474200, 49474280], [49477469, 49477596], [49477876, 49477990], [49481180, 49481259], [49481354, 49481490]] None
ENST00000540532 [[49477919, 49477990], [49481180, 49481259], [49481354, 49481414], [49484786, 49484893], [49485511, 49485632], [49488717, 49488862], [49489106, 49489292], [49490450, 49490642], [49496251, 49496566]] [[49484889, 49484893], [49485511, 49485632], [49488717, 49488862], [49489106, 49489292], [49490450, 49490642], [49496251, 49496311]]
ENST00000484289 [[49484687, 49484893], [49485511, 49485632], [49485976, 49486094], [49488717, 49488731]] None
ENST00000457974 [[49490450, 49490642], [49494558, 49494795], [49496251, 49496540]] None
NM_002103 [[49471381, 49472868], [49473031, 49473112], [49473802, 49473966], [49474184, 49474280], [49477469, 49477596], [49477876, 49477990], [49481180, 49481259], [49481354, 49481414], [49484786, 49484893], [49485511, 49485632], [49485976, 49486094], [49488717, 49488862], [49489106, 49489292], [49490450, 49490642], [49494558, 49494740], [49496251, 49496610]] [[49472544, 49472868], [49473031, 49473112], [49473802, 49473966], [49474184, 49474280], [49477469, 49477596], [49477876, 49477990], [49481180, 49481259], [49481354, 49481414], [49484786, 49484893], [49485511, 49485632], [49485976, 49486094], [49488717, 49488862], [49489106, 49489292], [49490450, 49490642], [49494558, 49494740], [49496251, 49496369]]
NM_001161587 [[49471381, 49472868], [49473031, 49473112], [49473802, 49473966], [49474184, 49474280], [49477469, 49477596], [49477876, 49477990], [49481180, 49481259], [49481354, 49481414], [49484786, 49484893], [49485511, 49485632], [49485976, 49486094], [49488717, 49488862], [49489106, 49489292], [49494558, 49494740], [49496251, 49496610]] [[49472544, 49472868], [49473031, 49473112], [49473802, 49473966], [49474184, 49474280], [49477469, 49477596], [49477876, 49477990], [49481180, 49481259], [49481354, 49481414], [49484786, 49484893], [49485511, 49485632], [49485976, 49486094], [49488717, 49488862], [49489106, 49489292], [49494558, 49494740], [49496251, 49496369]]
NR_027763 [[49471381, 49472868], [49473031, 49473112], [49473802, 49473966], [49474184, 49474280], [49477469, 49477596], [49477876, 49477990], [49481180, 49481259], [49481354, 49481414], [49484786, 49484893], [49485511, 49485632], [49485976, 49486094], [49488717, 49488862], [49489106, 49489292], [49490450, 49490642], [49496251, 49496610]] None
Promoter
Chrom Start End Description
chr19 49496557 49496573 CAGE_peak_1_at_GYS1_5end
chr19 49496810 49496813 CAGE_peak_2_at_GYS1_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr19 GH19I048998 48998124 48998273 0.57 [{'connected_gene': 'CGB7', 'score': 11.6}, {'connected_gene': 'NTF4', 'score': 11.6}, {'connected_gene': 'KCNA7', 'score': 11.23}, {'connected_gene': 'SNRNP70', 'score': 10.86}, {'connected_gene': 'NUCB1-AS1', 'score': 10.78}, {'connected_gene': 'NUCB1', 'score': 10.75}, {'connected_gene': 'RUVBL2', 'score': 0.77}, {'connected_gene': 'GYS1', 'score': 0.77}, {'connected_gene': 'MIR6798', 'score': 0.39}]
chr19 GH19I048976 48976064 48976706 1.05 [{'connected_gene': 'BAX', 'score': 12.27}, {'connected_gene': 'DBP', 'score': 10.2}, {'connected_gene': 'SEC1P', 'score': 10.2}, {'connected_gene': 'GC19P048966', 'score': 0.39}, {'connected_gene': 'GC19P048967', 'score': 0.39}, {'connected_gene': 'RUVBL2', 'score': 0.37}, {'connected_gene': 'GYS1', 'score': 0.37}]
chr19 GH19I048983 48983644 48983713 0.74 [{'connected_gene': 'BAX', 'score': 11.82}, {'connected_gene': 'NUCB1-AS1', 'score': 11.0}, {'connected_gene': 'NUCB1', 'score': 10.97}, {'connected_gene': 'TULP2', 'score': 10.81}, {'connected_gene': 'BCAT2', 'score': 10.8}, {'connected_gene': 'RASIP1', 'score': 10.1}, {'connected_gene': 'IZUMO1', 'score': 10.1}, {'connected_gene': 'RUVBL2', 'score': 0.44}, {'connected_gene': 'GYS1', 'score': 0.44}, {'connected_gene': 'GC19P048966', 'score': 0.37}, {'connected_gene': 'GC19P048967', 'score': 0.37}]
chr19 GH19I048970 48970189 48971653 1.05 [{'connected_gene': 'NUCB1', 'score': 11.67}, {'connected_gene': 'TULP2', 'score': 11.67}, {'connected_gene': 'BCAT2', 'score': 11.1}, {'connected_gene': 'GC19P048966', 'score': 0.44}, {'connected_gene': 'GC19P048967', 'score': 0.44}, {'connected_gene': 'RUVBL2', 'score': 0.34}, {'connected_gene': 'GYS1', 'score': 0.34}]
chr19 GH19I048969 48969908 48970133 0.79 [{'connected_gene': 'NUCB1', 'score': 11.69}, {'connected_gene': 'TULP2', 'score': 11.69}, {'connected_gene': 'BCAT2', 'score': 11.1}, {'connected_gene': 'GC19P048966', 'score': 0.77}, {'connected_gene': 'GC19P048967', 'score': 0.77}, {'connected_gene': 'RUVBL2', 'score': 0.34}, {'connected_gene': 'GYS1', 'score': 0.34}]
chr19 GH19I049017 49017080 49017139 0.68 [{'connected_gene': 'LHB', 'score': 550.77}, {'connected_gene': 'LOC101059948', 'score': 18.7}, {'connected_gene': 'RUVBL2', 'score': 12.88}, {'connected_gene': 'GYS1', 'score': 12.88}, {'connected_gene': 'CGB7', 'score': 11.3}, {'connected_gene': 'NTF4', 'score': 11.29}]
chr19 GH19I048958 48958905 48969153 2.91 [{'connected_gene': 'FTL', 'score': 552.4}, {'connected_gene': 'GC19P048967', 'score': 550.77}, {'connected_gene': 'ENSG00000267898', 'score': 550.77}, {'connected_gene': 'GC19P048966', 'score': 550.77}, {'connected_gene': 'NUP62', 'score': 82.3}, {'connected_gene': 'PTOV1-AS2', 'score': 59.3}, {'connected_gene': 'IRF3', 'score': 58.81}, {'connected_gene': 'PRR12', 'score': 55.41}, {'connected_gene': 'SNORD35A', 'score': 52.87}, {'connected_gene': 'SNORD35B', 'score': 52.19}, {'connected_gene': 'ALDH16A1', 'score': 47.83}, {'connected_gene': 'GRWD1', 'score': 46.86}, {'connected_gene': 'PIH1D1', 'score': 45.72}, {'connected_gene': 'PNKP', 'score': 43.31}, {'connected_gene': 'KDELR1', 'score': 31.64}, {'connected_gene': 'PPP1R15A', 'score': 26.55}, {'connected_gene': 'RUVBL2', 'score': 25.65}, {'connected_gene': 'RPS11', 'score': 23.61}, {'connected_gene': 'ENSG00000268047', 'score': 23.44}, {'connected_gene': 'RPL18', 'score': 22.56}, {'connected_gene': 'CPT1C', 'score': 21.16}, {'connected_gene': 'DKKL1', 'score': 20.95}, {'connected_gene': 'RPL13A', 'score': 20.8}, {'connected_gene': 'BAX', 'score': 20.63}, {'connected_gene': 'PTOV1', 'score': 18.63}, {'connected_gene': 'IZUMO1', 'score': 16.67}, {'connected_gene': 'ENSG00000268093', 'score': 15.43}, {'connected_gene': 'CA11', 'score': 14.74}, {'connected_gene': 'TSKS', 'score': 14.52}, {'connected_gene': 'SEC1P', 'score': 13.96}, {'connected_gene': 'ZSWIM9', 'score': 12.7}, {'connected_gene': 'NUCB1', 'score': 11.69}, {'connected_gene': 'TULP2', 'score': 11.69}, {'connected_gene': 'NUCB1-AS1', 'score': 11.55}, {'connected_gene': 'NOSIP', 'score': 11.36}, {'connected_gene': 'AKT1S1', 'score': 11.24}, {'connected_gene': 'BCAT2', 'score': 11.1}, {'connected_gene': 'GYS1', 'score': 11.08}, {'connected_gene': 'RASIP1', 'score': 10.66}, {'connected_gene': 'ADM5', 'score': 10.36}, {'connected_gene': 'HSD17B14', 'score': 10.33}, {'connected_gene': 'PRMT1', 'score': 10.25}, {'connected_gene': 'SLC6A16', 'score': 10.11}, {'connected_gene': 'LIG1', 'score': 10.11}, {'connected_gene': 'FLT3LG', 'score': 9.93}, {'connected_gene': 'CYTH2', 'score': 9.76}, {'connected_gene': 'DHDH', 'score': 5.28}, {'connected_gene': 'CD37', 'score': 3.53}]
chr19 GH19I048999 48999152 49000493 0.7 [{'connected_gene': 'RUVBL2', 'score': 11.91}, {'connected_gene': 'CGB7', 'score': 11.62}, {'connected_gene': 'NTF4', 'score': 11.6}, {'connected_gene': 'KCNA7', 'score': 11.23}, {'connected_gene': 'SNRNP70', 'score': 10.86}, {'connected_gene': 'NUCB1-AS1', 'score': 10.77}, {'connected_gene': 'NUCB1', 'score': 10.75}, {'connected_gene': 'GYS1', 'score': 0.44}, {'connected_gene': 'MIR6798', 'score': 0.39}]
chr19 GH19I048988 48988467 48995639 2.38 [{'connected_gene': 'RUVBL2', 'score': 571.6}, {'connected_gene': 'GYS1', 'score': 550.77}, {'connected_gene': 'NUP62', 'score': 59.62}, {'connected_gene': 'GRWD1', 'score': 40.79}, {'connected_gene': 'PTOV1-AS2', 'score': 29.07}, {'connected_gene': 'SNORD35A', 'score': 27.92}, {'connected_gene': 'ENSG00000268047', 'score': 26.92}, {'connected_gene': 'IRF3', 'score': 26.74}, {'connected_gene': 'SNORD35B', 'score': 26.55}, {'connected_gene': 'SNRNP70', 'score': 25.85}, {'connected_gene': 'ALDH16A1', 'score': 24.27}, {'connected_gene': 'PIH1D1', 'score': 21.58}, {'connected_gene': 'KDELR1', 'score': 21.42}, {'connected_gene': 'PNKP', 'score': 21.29}, {'connected_gene': 'PRR12', 'score': 20.52}, {'connected_gene': 'AKT1S1', 'score': 19.29}, {'connected_gene': 'LOC101059948', 'score': 16.3}, {'connected_gene': 'TSKS', 'score': 14.52}, {'connected_gene': 'RPS11', 'score': 13.45}, {'connected_gene': 'TRPM4', 'score': 13.13}, {'connected_gene': 'RPL18', 'score': 12.88}, {'connected_gene': 'RPL13A', 'score': 12.86}, {'connected_gene': 'NUCB1', 'score': 12.41}, {'connected_gene': 'CYTH2', 'score': 12.11}, {'connected_gene': 'FTL', 'score': 11.97}, {'connected_gene': 'CGB7', 'score': 11.6}, {'connected_gene': 'NTF4', 'score': 11.59}, {'connected_gene': 'TULP2', 'score': 11.4}, {'connected_gene': 'NOSIP', 'score': 11.36}, {'connected_gene': 'KCNA7', 'score': 11.33}, {'connected_gene': 'NUCB1-AS1', 'score': 10.99}, {'connected_gene': 'DKKL1', 'score': 10.86}, {'connected_gene': 'PRMT1', 'score': 10.45}, {'connected_gene': 'SLC6A16', 'score': 10.11}, {'connected_gene': 'ADM5', 'score': 9.87}, {'connected_gene': 'BCAT2', 'score': 2.36}, {'connected_gene': 'SPHK2', 'score': 1.35}, {'connected_gene': 'GC19P048967', 'score': 0.31}, {'connected_gene': 'GC19P048966', 'score': 0.31}]
chr19 GH19I049018 49017226 49019873 1.59 [{'connected_gene': 'LOC101059948', 'score': 568.01}, {'connected_gene': 'LHB', 'score': 550.77}, {'connected_gene': 'RUVBL2', 'score': 23.48}, {'connected_gene': 'CGB3', 'score': 16.57}, {'connected_gene': 'GYS1', 'score': 12.85}, {'connected_gene': 'CGB7', 'score': 11.3}, {'connected_gene': 'NTF4', 'score': 11.29}]
chr19 GH19I049021 49020504 49020613 0.46 [{'connected_gene': 'LOC101059948', 'score': 550.77}, {'connected_gene': 'RUVBL2', 'score': 12.85}, {'connected_gene': 'GYS1', 'score': 12.85}, {'connected_gene': 'CGB7', 'score': 11.32}, {'connected_gene': 'NTF4', 'score': 11.3}, {'connected_gene': 'CGB3', 'score': 0.77}]
chr19 GH19I049020 49020926 49021211 0.71 [{'connected_gene': 'LOC101059948', 'score': 550.77}, {'connected_gene': 'CGB3', 'score': 13.49}, {'connected_gene': 'RUVBL2', 'score': 12.85}, {'connected_gene': 'GYS1', 'score': 12.85}, {'connected_gene': 'CGB7', 'score': 11.32}, {'connected_gene': 'NTF4', 'score': 11.3}, {'connected_gene': 'CGB5', 'score': 6.08}]
chr19 GH19I048977 48977678 48980614 1.58 [{'connected_gene': 'NUCB1-AS1', 'score': 11.41}, {'connected_gene': 'NUCB1', 'score': 11.38}, {'connected_gene': 'KCNA7', 'score': 10.97}, {'connected_gene': 'TULP2', 'score': 10.95}, {'connected_gene': 'CGB7', 'score': 10.79}, {'connected_gene': 'NTF4', 'score': 10.77}, {'connected_gene': 'C19orf73', 'score': 7.16}, {'connected_gene': 'FUT1', 'score': 3.1}, {'connected_gene': 'RUVBL2', 'score': 0.39}, {'connected_gene': 'GC19P048966', 'score': 0.39}, {'connected_gene': 'GC19P048967', 'score': 0.39}, {'connected_gene': 'GYS1', 'score': 0.39}]

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