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
ENST00000416691 [[40229763, 40230016], [40233500, 40233644], [40234946, 40235018], [40239232, 40239291], [40251604, 40251716], [40253674, 40253757], [40254111, 40254182], [40256307, 40256401], [40261639, 40261768], [40261844, 40261936], [40263896, 40263961], [40268770, 40268862], [40273637, 40273755], [40293372, 40293504], [40293796, 40293964], [40297469, 40297577], [40298644, 40298698], [40301605, 40301685], [40362471, 40365802]] [[40229863, 40230016], [40233500, 40233644], [40234946, 40235018], [40239232, 40239291], [40251604, 40251716], [40253674, 40253757], [40254111, 40254182], [40256307, 40256401], [40261639, 40261768], [40261844, 40261936], [40263896, 40263961], [40268770, 40268862], [40273637, 40273755], [40293372, 40293504], [40293796, 40293964], [40297469, 40297577], [40298644, 40298698], [40301605, 40301685], [40362471, 40362493]]
ENST00000543804 [[40229798, 40230016], [40233550, 40233644], [40234946, 40235018], [40239232, 40239291], [40251604, 40251714]] [[40229863, 40230016], [40233550, 40233586]]
ENST00000422759 [[40229798, 40230016], [40233500, 40233644], [40234946, 40235018], [40239232, 40239291], [40251604, 40251716], [40252228, 40252281]] [[40229863, 40230016], [40233500, 40233644], [40234946, 40235018], [40239232, 40239291], [40251604, 40251716], [40252228, 40252281]]
ENST00000455146 [[40229813, 40230016], [40233500, 40233644], [40234946, 40235018], [40239232, 40239291], [40251604, 40251716], [40253674, 40253757], [40254111, 40254182], [40256307, 40256401], [40261639, 40261768], [40261844, 40261936], [40263896, 40263961], [40268770, 40268862], [40273637, 40273755], [40293372, 40293504], [40293796, 40293964], [40297469, 40297577], [40298644, 40298698], [40301605, 40301685], [40325082, 40326769]] [[40229863, 40230016], [40233500, 40233644], [40234946, 40235018], [40239232, 40239291], [40251604, 40251716], [40253674, 40253757], [40254111, 40254182], [40256307, 40256401], [40261639, 40261768], [40261844, 40261936], [40263896, 40263961], [40268770, 40268862], [40273637, 40273755], [40293372, 40293504], [40293796, 40293964], [40297469, 40297577], [40298644, 40298698], [40301605, 40301685], [40325082, 40325230]]
ENST00000356576 [[40229860, 40230016], [40230962, 40231027], [40233500, 40233644], [40234946, 40235018], [40239232, 40239291], [40251604, 40251716], [40253674, 40253757], [40254111, 40254182], [40256307, 40256401], [40261639, 40261768], [40261844, 40261936], [40263896, 40263961], [40268770, 40268862], [40273637, 40273755], [40293372, 40293504], [40293796, 40293964], [40297469, 40297577], [40298644, 40298698], [40301605, 40301685], [40325082, 40326637]] [[40229863, 40230016], [40230962, 40231027], [40233500, 40233510]]
ENST00000536488 [[40233532, 40233644], [40234946, 40235018], [40239232, 40239291], [40251604, 40251716], [40254111, 40254182], [40256307, 40256401], [40261639, 40261683]] [[40233532, 40233644], [40234946, 40235018], [40239232, 40239291], [40251604, 40251716], [40254111, 40254159]]
ENST00000542266 [[40229787, 40230016], [40230253, 40230412], [40233500, 40233640]] [[40229863, 40230016], [40230253, 40230286]]
ENST00000543790 [[40229798, 40230016], [40230253, 40230412], [40230962, 40231027], [40233500, 40233604]] [[40229863, 40230016], [40230253, 40230286]]
ENST00000537156 [[40253483, 40253757], [40254111, 40254182], [40256307, 40256401], [40261639, 40261730]] None
ENST00000465775 [[40253732, 40254182], [40256307, 40256610]] None
ENST00000460701 [[40261679, 40261936], [40263896, 40263957]] None
NM_020751 [[40229763, 40230016], [40233500, 40233644], [40234946, 40235018], [40239232, 40239291], [40251604, 40251716], [40253674, 40253757], [40254111, 40254182], [40256307, 40256401], [40261639, 40261768], [40261844, 40261936], [40263896, 40263961], [40268770, 40268862], [40273637, 40273755], [40293372, 40293504], [40293796, 40293964], [40297469, 40297577], [40298644, 40298698], [40301605, 40301685], [40325082, 40326765]] [[40229863, 40230016], [40233500, 40233644], [40234946, 40235018], [40239232, 40239291], [40251604, 40251716], [40253674, 40253757], [40254111, 40254182], [40256307, 40256401], [40261639, 40261768], [40261844, 40261936], [40263896, 40263961], [40268770, 40268862], [40273637, 40273755], [40293372, 40293504], [40293796, 40293964], [40297469, 40297577], [40298644, 40298698], [40301605, 40301685], [40325082, 40325230]]
NR_026745 [[40229763, 40230016], [40230962, 40231027], [40233500, 40233644], [40234946, 40235018], [40239232, 40239291], [40251604, 40251716], [40253674, 40253757], [40254111, 40254182], [40256307, 40256401], [40261639, 40261768], [40261844, 40261936], [40263896, 40263961], [40268770, 40268862], [40273637, 40273755], [40293372, 40293504], [40293796, 40293964], [40297469, 40297577], [40298644, 40298698], [40301605, 40301685], [40325082, 40326765]] None
NM_001145079 [[40229763, 40230016], [40233500, 40233644], [40234946, 40235018], [40239232, 40239291], [40251604, 40251716], [40253674, 40253757], [40254111, 40254182], [40256307, 40256401], [40261639, 40261768], [40261844, 40261936], [40263896, 40263961], [40268770, 40268862], [40273637, 40273755], [40293372, 40293504], [40293796, 40293964], [40297469, 40297577], [40298644, 40298698], [40301605, 40301685], [40362471, 40365802]] [[40229863, 40230016], [40233500, 40233644], [40234946, 40235018], [40239232, 40239291], [40251604, 40251716], [40253674, 40253757], [40254111, 40254182], [40256307, 40256401], [40261639, 40261768], [40261844, 40261936], [40263896, 40263961], [40268770, 40268862], [40273637, 40273755], [40293372, 40293504], [40293796, 40293964], [40297469, 40297577], [40298644, 40298698], [40301605, 40301685], [40362471, 40362493]]
Promoter
Chrom Start End Description
chr13 40229775 40229869 CAGE_peak_1_at_COG6_5end
chr13 40229885 40229900 CAGE_peak_2_at_COG6_5end
chr13 40229903 40229914 CAGE_peak_3_at_COG6_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr13 GH13I040636 40636830 40641049 1.02 [{'connected_gene': 'NAA16', 'score': 12.03}, {'connected_gene': 'FOXO1', 'score': 11.86}, {'connected_gene': 'TPTE2P5', 'score': 11.02}, {'connected_gene': 'COG6', 'score': 9.94}, {'connected_gene': 'CYCSP34', 'score': 9.86}, {'connected_gene': 'WBP4', 'score': 7.39}, {'connected_gene': 'GC13P040625', 'score': 0.39}, {'connected_gene': 'PIR36841', 'score': 0.31}]
chr13 GH13I039809 39809544 39810160 0.2 [{'connected_gene': 'COG6', 'score': 12.27}, {'connected_gene': 'ENSG00000212553', 'score': 11.01}, {'connected_gene': 'CDKN2AIPNLP3', 'score': 0.44}, {'connected_gene': 'RNY4P14', 'score': 0.34}, {'connected_gene': 'GC13M039786', 'score': 0.34}]
chr13 GH13I039810 39810621 39811548 0.63 [{'connected_gene': 'COG6', 'score': 11.16}, {'connected_gene': 'ENSG00000212553', 'score': 11.01}, {'connected_gene': 'CDKN2AIPNLP3', 'score': 0.44}, {'connected_gene': 'RNY4P14', 'score': 0.31}, {'connected_gene': 'GC13M039786', 'score': 0.31}]
chr13 GH13I039655 39655013 39656801 1.93 [{'connected_gene': 'COG6', 'score': 611.63}, {'connected_gene': 'MIR4305', 'score': 0.44}]
chr13 GH13I039775 39775397 39779304 1.19 [{'connected_gene': 'COG6', 'score': 23.38}, {'connected_gene': 'ENSG00000212553', 'score': 10.43}, {'connected_gene': 'GC13P039785', 'score': 0.44}, {'connected_gene': 'GC13P039748', 'score': 0.31}]
chr13 GH13I039385 39385320 39386537 0.84 [{'connected_gene': 'NHLRC3', 'score': 14.99}, {'connected_gene': 'COG6', 'score': 9.97}, {'connected_gene': 'GC13M039383', 'score': 0.77}, {'connected_gene': 'GC13M039390', 'score': 0.44}, {'connected_gene': 'LHFPL6', 'score': 0.08}]
chr13 GH13I039765 39765864 39766402 0.94 [{'connected_gene': 'NHLRC3', 'score': 10.89}, {'connected_gene': 'GC13P039785', 'score': 0.37}, {'connected_gene': 'GC13P039748', 'score': 0.37}, {'connected_gene': 'COG6', 'score': 0.14}]
chr13 GH13I039612 39612164 39612313 0.62 [{'connected_gene': 'LHFPL6', 'score': 0.44}, {'connected_gene': 'COG6', 'score': 0.26}]
chr13 GH13I040584 40584744 40591677 1.22 [{'connected_gene': 'TPTE2P5', 'score': 11.96}, {'connected_gene': 'FOXO1', 'score': 11.86}, {'connected_gene': 'COG6', 'score': 11.2}, {'connected_gene': 'SLC25A15', 'score': 7.69}, {'connected_gene': 'WBP4', 'score': 6.53}, {'connected_gene': 'RLIMP1', 'score': 0.29}, {'connected_gene': 'GC13P040543', 'score': 0.26}]
chr13 GH13I039786 39786203 39786906 0.31 [{'connected_gene': 'RNY4P14', 'score': 550.77}, {'connected_gene': 'GC13P039785', 'score': 550.77}, {'connected_gene': 'GC13M039786', 'score': 550.77}, {'connected_gene': 'COG6', 'score': 5.35}, {'connected_gene': 'CDKN2AIPNLP3', 'score': 0.29}]
chr13 GH13I039787 39787044 39787213 0.43 [{'connected_gene': 'RNY4P14', 'score': 550.77}, {'connected_gene': 'GC13P039785', 'score': 550.77}, {'connected_gene': 'GC13M039786', 'score': 550.77}, {'connected_gene': 'CDKN2AIPNLP3', 'score': 0.29}, {'connected_gene': 'COG6', 'score': 0.12}]
chr13 GH13I039801 39801927 39804335 0.62 [{'connected_gene': 'ENSG00000212553', 'score': 10.81}, {'connected_gene': 'COG6', 'score': 9.41}, {'connected_gene': 'CDKN2AIPNLP3', 'score': 0.39}, {'connected_gene': 'RNY4P14', 'score': 0.37}, {'connected_gene': 'GC13P039785', 'score': 0.37}, {'connected_gene': 'GC13M039786', 'score': 0.37}]
chr13 GH13I039773 39773964 39774113 0.31 [{'connected_gene': 'GC13P039785', 'score': 0.39}, {'connected_gene': 'GC13P039748', 'score': 0.31}, {'connected_gene': 'COG6', 'score': 0.13}]
chr13 GH13I039766 39766664 39766773 0.2 [{'connected_gene': 'GC13P039785', 'score': 0.37}, {'connected_gene': 'GC13P039748', 'score': 0.37}, {'connected_gene': 'COG6', 'score': 0.14}]
chr13 GH13I039712 39712178 39713225 0.2 [{'connected_gene': 'GC13M039692', 'score': 0.39}, {'connected_gene': 'GC13P039748', 'score': 0.28}, {'connected_gene': 'COG6', 'score': 0.22}]