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
ENST00000396194	[[95261480, 95262815], [95264246, 95264451], [95265263, 95265340], [95272400, 95272740], [95274432, 95274578]]	[[95262537, 95262815], [95264246, 95264451], [95265263, 95265340], [95272400, 95272731]]
ENST00000297596	[[95261485, 95262815], [95264246, 95264451], [95265263, 95265340], [95272400, 95272740], [95274317, 95274573]]	[[95262537, 95262815], [95264246, 95264451], [95265263, 95265340], [95272400, 95272731]]
ENST00000523660	[[95272043, 95272740], [95274432, 95274573]]	None
ENST00000521817	[[95272230, 95272740], [95274317, 95274547]]	None
ENST00000523433	[[95272450, 95272740], [95272925, 95272998]]	[[95272450, 95272731]]
NM_005261	[[95261480, 95262815], [95264246, 95264451], [95265263, 95265340], [95272400, 95272740], [95274317, 95274547]]	[[95262537, 95262815], [95264246, 95264451], [95265263, 95265340], [95272400, 95272731]]
NM_181702	[[95261480, 95262815], [95264246, 95264451], [95265263, 95265340], [95272400, 95272740], [95274432, 95274547]]	[[95262537, 95262815], [95264246, 95264451], [95265263, 95265340], [95272400, 95272731]]

Promoter

Chrom	Start	End	Description
chr8	95273168	95273192	CAGE_peak_2_at_GEM_5end
chr8	95274536	95274555	CAGE_peak_1_at_GEM_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr8	GH08I093931	93931805	93937308	1.54	[{'connected_gene': 'PDP1', 'score': 16.54}, {'connected_gene': 'ENSG00000253722', 'score': 9.55}, {'connected_gene': 'GEM', 'score': 7.16}, {'connected_gene': 'PSMA2P2', 'score': 0.44}, {'connected_gene': 'ENSG00000264448', 'score': 0.37}]
chr8	GH08I094286	94286480	94288346	0.2	[{'connected_gene': 'GEM', 'score': 11.49}, {'connected_gene': 'RAD54B', 'score': 9.48}, {'connected_gene': 'PIR43511', 'score': 0.34}, {'connected_gene': 'PIR32209', 'score': 0.21}]
chr8	GH08I094233	94233916	94235405	1.37	[{'connected_gene': 'GEM', 'score': 23.59}, {'connected_gene': 'MYL12AP1', 'score': 4.52}, {'connected_gene': 'LOC105375648', 'score': 0.44}]
chr8	GH08I094258	94258021	94263945	2.45	[{'connected_gene': 'GEM', 'score': 574.52}, {'connected_gene': 'LOC105375648', 'score': 0.29}]
chr8	GH08I094220	94220553	94220682	0.63	[{'connected_gene': 'GEM', 'score': 10.98}, {'connected_gene': 'CDH17', 'score': 0.77}, {'connected_gene': 'LOC105375648', 'score': 0.44}]
chr8	GH08I094218	94218990	94220359	1.01	[{'connected_gene': 'GEM', 'score': 17.01}, {'connected_gene': 'CDH17', 'score': 0.77}, {'connected_gene': 'LOC105375648', 'score': 0.44}]
chr8	GH08I094239	94239907	94243378	1.56	[{'connected_gene': 'GEM', 'score': 22.0}, {'connected_gene': 'CDH17', 'score': 16.8}, {'connected_gene': 'LOC105375648', 'score': 0.39}]
chr8	GH08I094164	94164593	94165693	0.49	[{'connected_gene': 'GEM', 'score': 15.51}, {'connected_gene': 'CDH17', 'score': 10.71}, {'connected_gene': 'LOC105375647', 'score': 0.34}, {'connected_gene': 'RPL6P23', 'score': 0.28}]
chr8	GH08I094196	94196049	94201660	0.76	[{'connected_gene': 'GEM', 'score': 10.82}, {'connected_gene': 'CDH17', 'score': 6.63}, {'connected_gene': 'RPL6P23', 'score': 5.46}, {'connected_gene': 'LOC105375647', 'score': 0.23}]
chr8	GH08I094303	94303233	94304322	0.72	[{'connected_gene': 'GEM', 'score': 11.13}, {'connected_gene': 'CDH17', 'score': 10.03}, {'connected_gene': 'PIR43511', 'score': 0.28}, {'connected_gene': 'PIR32209', 'score': 0.25}]
chr8	GH08I094227	94227213	94227362	0.46	[{'connected_gene': 'LOC105375648', 'score': 550.77}, {'connected_gene': 'GEM', 'score': 16.3}, {'connected_gene': 'CDH17', 'score': 0.44}]
chr8	GH08I093837	93837299	93839376	1.35	[{'connected_gene': 'LOC105375645', 'score': 8.92}, {'connected_gene': 'GEM', 'score': 3.14}, {'connected_gene': 'PDP1', 'score': 2.09}, {'connected_gene': 'PIR34125', 'score': 0.77}, {'connected_gene': 'ENSG00000254057', 'score': 0.44}]
chr8	GH08I094255	94254633	94254652	0.4	[{'connected_gene': 'CDH17', 'score': 11.1}, {'connected_gene': 'GEM', 'score': 0.44}, {'connected_gene': 'LOC105375648', 'score': 0.31}]
chr8	GH08I094254	94254253	94254402	0.4	[{'connected_gene': 'CDH17', 'score': 11.1}, {'connected_gene': 'GEM', 'score': 0.44}, {'connected_gene': 'LOC105375648', 'score': 0.31}]
chr8	GH08I094247	94247606	94249423	0.43	[{'connected_gene': 'CDH17', 'score': 11.21}, {'connected_gene': 'GEM', 'score': 6.33}, {'connected_gene': 'LOC105375648', 'score': 0.34}]
chr8	GH08I094253	94253447	94253482	0.4	[{'connected_gene': 'CDH17', 'score': 11.1}, {'connected_gene': 'GEM', 'score': 0.44}, {'connected_gene': 'LOC105375648', 'score': 0.31}]
chr8	GH08I094147	94146753	94146902	0.46	[{'connected_gene': 'CDH17', 'score': 11.13}, {'connected_gene': 'GEM', 'score': 10.97}, {'connected_gene': 'LOC105375647', 'score': 0.77}, {'connected_gene': 'RPL6P23', 'score': 0.22}]
chr8	GH08I094146	94146953	94147102	0.38	[{'connected_gene': 'CDH17', 'score': 11.13}, {'connected_gene': 'GEM', 'score': 10.97}, {'connected_gene': 'LOC105375647', 'score': 0.77}, {'connected_gene': 'RPL6P23', 'score': 0.22}]
chr8	GH08I094119	94119573	94121002	1.26	[{'connected_gene': 'CDH17', 'score': 11.17}, {'connected_gene': 'GEM', 'score': 5.69}, {'connected_gene': 'ENSG00000253585', 'score': 0.37}, {'connected_gene': 'LOC105375647', 'score': 0.34}]
chr8	GH08I094188	94188356	94194997	0.4	[{'connected_gene': 'CDH17', 'score': 17.77}, {'connected_gene': 'GEM', 'score': 10.69}, {'connected_gene': 'RPL6P23', 'score': 4.93}, {'connected_gene': 'INTS8', 'score': 4.33}, {'connected_gene': 'LOC105375647', 'score': 0.25}]
chr8	GH08I094205	94205184	94209894	1.53	[{'connected_gene': 'CDH17', 'score': 555.83}, {'connected_gene': 'GC08P094206', 'score': 550.77}, {'connected_gene': 'GEM', 'score': 10.83}, {'connected_gene': 'RPL6P23', 'score': 5.43}]
chr8	GH08I093956	93956439	93961400	1.33	[{'connected_gene': 'RPL34P18', 'score': 550.77}, {'connected_gene': 'PIR51498', 'score': 550.77}, {'connected_gene': 'LINC00535', 'score': 11.08}, {'connected_gene': 'FAM92A', 'score': 11.08}, {'connected_gene': 'RBM12B', 'score': 10.65}, {'connected_gene': 'LOC105375645', 'score': 10.65}, {'connected_gene': 'PDP1', 'score': 10.21}, {'connected_gene': 'ENSG00000253722', 'score': 10.18}, {'connected_gene': 'GEM', 'score': 4.72}, {'connected_gene': 'ENSG00000275386', 'score': 0.37}]
chr8	GH08I094265	94265115	94267303	0.79	[{'connected_gene': 'PIR43511', 'score': 550.77}, {'connected_gene': 'CDH17', 'score': 10.77}, {'connected_gene': 'GEM', 'score': 8.6}, {'connected_gene': 'PIR32209', 'score': 0.18}]