PsyMuKB

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}]