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
ENST00000262662	[[51426416, 51426475], [51433607, 51435571], [51436029, 51436169], [51439564, 51440305]]	[[51436040, 51436169], [51439564, 51439942]]
ENST00000396148	[[51434366, 51435571], [51436029, 51436169], [51439564, 51440305]]	[[51436040, 51436169], [51439564, 51439942]]
ENST00000371761	[[51435615, 51436169], [51439564, 51440230]]	[[51436040, 51436169], [51439564, 51439942]]
NM_001262	[[51434366, 51435571], [51436029, 51436169], [51439564, 51440306]]	[[51436040, 51436169], [51439564, 51439942]]
NM_078626	[[51435641, 51436169], [51439564, 51440309]]	[[51436040, 51436169], [51439564, 51439942]]

Promoter

Chrom	Start	End	Description
chr1	51434357	51434388	CAGE_peak_4_at_CDKN2C_5end
chr1	51434441	51434456	CAGE_peak_5_at_CDKN2C_5end
chr1	51434469	51434489	CAGE_peak_2_at_CDKN2C_5end
chr1	51434497	51434515	CAGE_peak_7_at_CDKN2C_5end
chr1	51434648	51434692	CAGE_peak_3_at_CDKN2C_5end
chr1	51434707	51434717	CAGE_peak_11_at_CDKN2C_5end
chr1	51435879	51435884	CAGE_peak_9_at_CDKN2C_5end
chr1	51435894	51435904	CAGE_peak_6_at_CDKN2C_5end
chr1	51435907	51435948	CAGE_peak_1_at_CDKN2C_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr1	GH01I050699	50699523	50701114	1.66	[{'connected_gene': 'DMRTA2', 'score': 4.69}, {'connected_gene': 'CDKN2C', 'score': 4.48}, {'connected_gene': 'GC01M050693', 'score': 0.44}, {'connected_gene': 'GC01M050672', 'score': 0.34}, {'connected_gene': 'FAF1', 'score': 0.07}]
chr1	GH01I051563	51563346	51572689	1.36	[{'connected_gene': 'NRDC', 'score': 15.7}, {'connected_gene': 'RNU6-1281P', 'score': 12.55}, {'connected_gene': 'ENSG00000266993', 'score': 12.41}, {'connected_gene': 'CDKN2C', 'score': 11.25}, {'connected_gene': 'EPS15', 'score': 11.14}, {'connected_gene': 'ENSG00000227070', 'score': 11.14}, {'connected_gene': 'RNU6-877P', 'score': 9.79}, {'connected_gene': 'CALR4P', 'score': 7.96}, {'connected_gene': 'OSBPL9', 'score': 0.44}, {'connected_gene': 'GC01P051545', 'score': 0.34}, {'connected_gene': 'LOC105378720', 'score': 0.23}]
chr1	GH01I050683	50683773	50686253	0.31	[{'connected_gene': 'EPS15', 'score': 6.82}, {'connected_gene': 'CDKN2C', 'score': 4.92}, {'connected_gene': 'GC01M050672', 'score': 0.44}, {'connected_gene': 'GC01M050693', 'score': 0.34}, {'connected_gene': 'FAF1', 'score': 0.06}]
chr1	GH01I050723	50723895	50725911	0.69	[{'connected_gene': 'EPS15', 'score': 6.87}, {'connected_gene': 'CDKN2C', 'score': 4.48}, {'connected_gene': 'GC01P050735', 'score': 0.44}, {'connected_gene': 'GC01P050737', 'score': 0.44}, {'connected_gene': 'GC01P050734', 'score': 0.44}, {'connected_gene': 'GC01P050738', 'score': 0.44}, {'connected_gene': 'GC01P050733', 'score': 0.44}, {'connected_gene': 'GC01P050736', 'score': 0.44}, {'connected_gene': 'GC01P050732', 'score': 0.44}, {'connected_gene': 'GC01M050693', 'score': 0.37}, {'connected_gene': 'FAF1', 'score': 0.07}]
chr1	GH01I050966	50966781	50973081	2.29	[{'connected_gene': 'CDKN2C', 'score': 554.74}, {'connected_gene': 'ENSG00000266993', 'score': 38.94}, {'connected_gene': 'DMRTA2', 'score': 5.03}, {'connected_gene': 'GC01M050995', 'score': 0.26}, {'connected_gene': 'GC01M050992', 'score': 0.26}]
chr1	GH01I050994	50994959	50997391	0.6	[{'connected_gene': 'CDKN2C', 'score': 11.1}, {'connected_gene': 'FAF1', 'score': 11.1}, {'connected_gene': 'EPS15', 'score': 5.05}, {'connected_gene': 'DMRTA2', 'score': 4.48}, {'connected_gene': 'GC01M050995', 'score': 0.39}, {'connected_gene': 'GC01M050992', 'score': 0.39}]
chr1	GH01I050984	50984548	50986186	0.68	[{'connected_gene': 'CDKN2C', 'score': 15.36}, {'connected_gene': 'FAF1', 'score': 11.14}, {'connected_gene': 'EPS15', 'score': 5.94}, {'connected_gene': 'DMRTA2', 'score': 4.97}, {'connected_gene': 'GC01M050995', 'score': 0.31}, {'connected_gene': 'GC01M050992', 'score': 0.31}]
chr1	GH01I050958	50958795	50962004	2.32	[{'connected_gene': 'CDKN2C', 'score': 561.99}, {'connected_gene': 'FAF1', 'score': 550.77}, {'connected_gene': 'ENSG00000266993', 'score': 36.35}]
chr1	GH01I050973	50973601	50974800	0.89	[{'connected_gene': 'CDKN2C', 'score': 0.39}, {'connected_gene': 'GC01M050995', 'score': 0.28}, {'connected_gene': 'GC01M050992', 'score': 0.28}]
chr1	GH01I050981	50981450	50982256	0.58	[{'connected_gene': 'CDKN2C', 'score': 0.34}, {'connected_gene': 'GC01M050995', 'score': 0.31}, {'connected_gene': 'GC01M050992', 'score': 0.31}]
chr1	GH01I050975	50975422	50980620	1.47	[{'connected_gene': 'ENSG00000266993', 'score': 25.73}, {'connected_gene': 'DMRTA2', 'score': 5.21}, {'connected_gene': 'CDKN2C', 'score': 0.37}, {'connected_gene': 'GC01M050995', 'score': 0.29}, {'connected_gene': 'GC01M050992', 'score': 0.29}]
chr1	GH01I051008	51008963	51010358	0.2	[{'connected_gene': 'GC01M050995', 'score': 550.77}, {'connected_gene': 'GC01M050992', 'score': 550.77}, {'connected_gene': 'EPS15', 'score': 5.54}, {'connected_gene': 'CDKN2C', 'score': 0.25}]
chr1	GH01I050602	50602897	50604595	1	[{'connected_gene': 'GC01P050603', 'score': 550.77}, {'connected_gene': 'LINC01562', 'score': 10.23}, {'connected_gene': 'CDKN2C', 'score': 4.25}, {'connected_gene': 'GC01M050645', 'score': 0.25}, {'connected_gene': 'FAF1', 'score': 0.05}]