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
ENST00000381736	[[25875661, 25876018], [25881943, 25882086], [25883384, 25883420], [25887020, 25887170], [25887751, 25887889], [25889494, 25889605], [25893463, 25893488], [25894667, 25894733], [25895056, 25895231], [25899126, 25899206], [25901053, 25901172], [25901567, 25901650], [25905494, 25905696], [25911073, 25911172], [25912773, 25912869], [25914102, 25916544]]	[[25875911, 25876018], [25881943, 25882086], [25883384, 25883420], [25887020, 25887170], [25887751, 25887889], [25889494, 25889605], [25893463, 25893488], [25894667, 25894733], [25895056, 25895231], [25899126, 25899206], [25901053, 25901172], [25901567, 25901650], [25905494, 25905696], [25911073, 25911172], [25912773, 25912869], [25914102, 25914272]]
ENST00000481980	[[25875693, 25876018], [25877064, 25877146], [25877239, 25877293], [25881943, 25882087]]	[[25875911, 25876018], [25877064, 25877146]]
ENST00000480187	[[25875762, 25876018], [25881943, 25882275]]	None
ENST00000460326	[[25875762, 25876018], [25881943, 25882086], [25883384, 25883567]]	None
ENST00000465068	[[25875762, 25876018], [25881943, 25882086], [25883384, 25883420], [25884097, 25884153], [25887020, 25887080]]	[[25875911, 25876018], [25881943, 25882086], [25883384, 25883420], [25884097, 25884153], [25887020, 25887065]]
ENST00000490231	[[25875762, 25876018], [25877239, 25877293], [25881943, 25882086], [25883384, 25883420], [25887020, 25887094]]	[[25875911, 25876018], [25877239, 25877243]]
ENST00000463407	[[25875768, 25876018], [25881943, 25882086], [25883384, 25883420], [25887020, 25887170], [25887751, 25887889], [25889494, 25889605], [25893463, 25893488], [25894667, 25894733], [25895056, 25895231], [25899126, 25899206], [25901053, 25901172], [25901567, 25901650], [25905494, 25910478]]	[[25875911, 25876018], [25881943, 25882086], [25883384, 25883420], [25887020, 25887170], [25887751, 25887889], [25889494, 25889605], [25893463, 25893488], [25894667, 25894733], [25895056, 25895231], [25899126, 25899206], [25901053, 25901172], [25901567, 25901650], [25905494, 25905719]]
ENST00000466694	[[25875768, 25876018], [25881943, 25882086], [25883384, 25883420], [25887020, 25887170], [25887751, 25887889], [25889494, 25889605], [25893463, 25893488], [25895056, 25895231], [25899126, 25899206], [25901053, 25901172], [25901567, 25901650], [25905494, 25905696], [25911073, 25911172], [25912773, 25913016]]	None
ENST00000381718	[[25875770, 25876018], [25881943, 25882086], [25887020, 25887170], [25887751, 25887889], [25889494, 25889605], [25893463, 25893488], [25894667, 25894733], [25895056, 25895231], [25899126, 25899206], [25901053, 25901172], [25901567, 25901650], [25905494, 25905696], [25911073, 25911172], [25912773, 25912869], [25914102, 25914856]]	[[25875911, 25876018], [25881943, 25882086], [25887020, 25887170], [25887751, 25887889], [25889494, 25889605], [25893463, 25893488], [25894667, 25894733], [25895056, 25895231], [25899126, 25899206], [25901053, 25901172], [25901567, 25901650], [25905494, 25905696], [25911073, 25911172], [25912773, 25912869], [25914102, 25914272]]
ENST00000495460	[[25875782, 25876018], [25881943, 25882086], [25883384, 25883420], [25887020, 25887170], [25887751, 25887889], [25889494, 25889605], [25891828, 25891961]]	None
ENST00000381747	[[25875784, 25876018], [25881943, 25882086], [25883384, 25883420], [25887020, 25887170], [25887751, 25887889], [25889494, 25889605], [25893463, 25893488], [25894667, 25894733], [25895056, 25895231], [25899126, 25899206], [25901053, 25901172], [25901567, 25901650], [25905494, 25905696], [25910350, 25910447]]	[[25875911, 25876018], [25881943, 25882086], [25883384, 25883420], [25887020, 25887170], [25887751, 25887889], [25889494, 25889605], [25893463, 25893488], [25894667, 25894733], [25895056, 25895231], [25899126, 25899206], [25901053, 25901172], [25901567, 25901650], [25905494, 25905696], [25910350, 25910447]]
ENST00000394327	[[25881959, 25882086], [25887020, 25887170], [25887751, 25887889], [25889494, 25889605], [25893463, 25893488], [25894667, 25894733], [25895056, 25895231], [25899126, 25899206], [25901053, 25901172], [25901567, 25901650], [25905494, 25905696], [25910350, 25910482]]	[[25881959, 25882086], [25887020, 25887170], [25887751, 25887889], [25889494, 25889605], [25893463, 25893488], [25894667, 25894733], [25895056, 25895231], [25899126, 25899206], [25901053, 25901172], [25901567, 25901650], [25905494, 25905696], [25910350, 25910466]]
ENST00000476553	[[25894410, 25894733], [25895056, 25895231], [25899126, 25899192]]	None
ENST00000477876	[[25905570, 25905696], [25911073, 25911172], [25912773, 25912869], [25923699, 25923938]]	None
NM_001008564	[[25875665, 25876018], [25881943, 25882086], [25887020, 25887170], [25887751, 25887889], [25889494, 25889605], [25893463, 25893488], [25894667, 25894733], [25895056, 25895231], [25899126, 25899206], [25901053, 25901172], [25901567, 25901650], [25905494, 25905696], [25911073, 25911172], [25912773, 25912869], [25914102, 25916561]]	[[25875911, 25876018], [25881943, 25882086], [25887020, 25887170], [25887751, 25887889], [25889494, 25889605], [25893463, 25893488], [25894667, 25894733], [25895056, 25895231], [25899126, 25899206], [25901053, 25901172], [25901567, 25901650], [25905494, 25905696], [25911073, 25911172], [25912773, 25912869], [25914102, 25914272]]
NM_014089	[[25875665, 25876018], [25881943, 25882086], [25883384, 25883420], [25887020, 25887170], [25887751, 25887889], [25889494, 25889605], [25893463, 25893488], [25894667, 25894733], [25895056, 25895231], [25899126, 25899206], [25901053, 25901172], [25901567, 25901650], [25905494, 25905696], [25911073, 25911172], [25912773, 25912869], [25914102, 25916561]]	[[25875911, 25876018], [25881943, 25882086], [25883384, 25883420], [25887020, 25887170], [25887751, 25887889], [25889494, 25889605], [25893463, 25893488], [25894667, 25894733], [25895056, 25895231], [25899126, 25899206], [25901053, 25901172], [25901567, 25901650], [25905494, 25905696], [25911073, 25911172], [25912773, 25912869], [25914102, 25914272]]

Promoter

Chrom	Start	End	Description
chr13	25875755	25875782	CAGE_peak_1_at_NUPL1_5end
chr13	25875786	25875808	CAGE_peak_2_at_NUPL1_5end
chr13	25875818	25875823	CAGE_peak_3_at_NUPL1_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr13	GH13I024910	24910598	24912012	1.11	[{'connected_gene': 'NUP58', 'score': 6.12}, {'connected_gene': 'MTMR6', 'score': 5.56}, {'connected_gene': 'PARP4', 'score': 1.74}, {'connected_gene': 'PABPC3', 'score': 1.35}, {'connected_gene': 'CENPJ', 'score': 0.39}, {'connected_gene': 'GC13P024795', 'score': 0.1}, {'connected_gene': 'PIR31198', 'score': 0.1}]
chr13	GH13I025276	25276077	25277262	0.31	[{'connected_gene': 'NUP58', 'score': 19.25}, {'connected_gene': 'ATP8A2', 'score': 10.95}, {'connected_gene': 'LINC01053', 'score': 10.66}, {'connected_gene': 'LINC00463', 'score': 10.66}, {'connected_gene': 'MTMR6', 'score': 0.39}, {'connected_gene': 'LOC105370121', 'score': 0.26}]
chr13	GH13I025300	25300593	25303152	2.22	[{'connected_gene': 'NUP58', 'score': 559.21}, {'connected_gene': 'GC13P025300', 'score': 550.77}, {'connected_gene': 'ENSG00000260509', 'score': 550.77}, {'connected_gene': 'CDK8', 'score': 10.38}, {'connected_gene': 'MTMR6', 'score': 6.21}, {'connected_gene': 'GC13P025348', 'score': 0.25}]
chr13	GH13I025309	25309401	25310200	0.51	[{'connected_gene': 'NUP58', 'score': 0.44}, {'connected_gene': 'ENSG00000260509', 'score': 0.44}, {'connected_gene': 'GC13P025348', 'score': 0.28}]
chr13	GH13I025316	25316550	25320275	0.76	[{'connected_gene': 'MTMR6', 'score': 32.31}, {'connected_gene': 'NUP58', 'score': 12.4}, {'connected_gene': 'ATP8A2', 'score': 10.33}, {'connected_gene': 'ENSG00000260509', 'score': 0.37}, {'connected_gene': 'GC13P025348', 'score': 0.31}]
chr13	GH13I025287	25285284	25285380	0.22	[{'connected_gene': 'MTMR6', 'score': 4.38}, {'connected_gene': 'NUP58', 'score': 2.26}, {'connected_gene': 'LOC105370121', 'score': 0.25}]
chr13	GH13I025285	25285839	25288072	2.2	[{'connected_gene': 'MTMR6', 'score': 580.46}, {'connected_gene': 'NUP58', 'score': 7.52}, {'connected_gene': 'LOC105370121', 'score': 0.23}]
chr13	GH13I025266	25266214	25269348	0.46	[{'connected_gene': 'MTMR6', 'score': 27.11}, {'connected_gene': 'NUP58', 'score': 7.38}, {'connected_gene': 'LOC105370121', 'score': 0.29}]
chr13	GH13I025344	25344883	25345032	0.38	[{'connected_gene': 'ATP8A2', 'score': 11.11}, {'connected_gene': 'GC13P025348', 'score': 0.77}, {'connected_gene': 'NUP58', 'score': 0.26}, {'connected_gene': 'ENSG00000260509', 'score': 0.26}]
chr13	GH13I025306	25306447	25306675	0.43	[{'connected_gene': 'ATP8A2', 'score': 10.05}, {'connected_gene': 'MTMR6', 'score': 5.17}, {'connected_gene': 'NUP58', 'score': 4.07}, {'connected_gene': 'ENSG00000260509', 'score': 0.44}, {'connected_gene': 'GC13P025348', 'score': 0.26}]