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
ENST00000276925	[[22002901, 22006246], [22008796, 22009362]]	[[22005985, 22006246], [22008796, 22008952]]
ENST00000579591	[[22005201, 22006270]]	None
ENST00000380142	[[22005985, 22006246], [22008673, 22009271]]	[[22008715, 22008952]]
ENST00000539462	[[22008715, 22008952]]	[[22008715, 22008952]]
NM_078487	[[22002901, 22006246], [22008673, 22009312]]	[[22008715, 22008952]]
NM_004936	[[22002901, 22006246], [22008796, 22009312]]	[[22005985, 22006246], [22008796, 22008952]]

Promoter

Chrom	Start	End	Description
chr9	22009241	22009248	CAGE_peak_2_at_CDKN2B_5end
chr9	22009297	22009324	CAGE_peak_1_at_CDKN2B_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr9	GH09I021989	21989562	21990800	1.16	[{'connected_gene': 'KLHL9', 'score': 19.37}, {'connected_gene': 'CDKN2A-AS1', 'score': 13.13}, {'connected_gene': 'UBA52P6', 'score': 12.6}, {'connected_gene': 'ENSG00000265194', 'score': 12.0}, {'connected_gene': 'MTAP', 'score': 11.15}, {'connected_gene': 'CDKN2B', 'score': 4.93}, {'connected_gene': 'CDKN2B-AS1', 'score': 0.77}, {'connected_gene': 'CDKN2A', 'score': 0.44}, {'connected_gene': 'GC09M021977', 'score': 0.39}, {'connected_gene': 'PIR47863', 'score': 0.39}, {'connected_gene': 'ENSG00000264545', 'score': 0.09}]
chr9	GH09I021986	21986409	21989000	1.15	[{'connected_gene': 'CDKN2B', 'score': 20.22}, {'connected_gene': 'CDKN2A-AS1', 'score': 13.13}, {'connected_gene': 'UBA52P6', 'score': 12.6}, {'connected_gene': 'CDKN2B-AS1', 'score': 0.44}, {'connected_gene': 'CDKN2A', 'score': 0.44}, {'connected_gene': 'GC09M021977', 'score': 0.39}, {'connected_gene': 'PIR47863', 'score': 0.39}, {'connected_gene': 'ENSG00000264545', 'score': 0.09}]
chr9	GH09I022101	22101775	22106088	1.74	[{'connected_gene': 'CDKN2B', 'score': 1.79}, {'connected_gene': 'CDKN2A', 'score': 1.55}, {'connected_gene': 'MTAP', 'score': 1.43}, {'connected_gene': 'ENSG00000277653', 'score': 0.39}, {'connected_gene': 'ENSG00000274055', 'score': 0.22}, {'connected_gene': 'CDKN2B-AS1', 'score': 0.14}]
chr9	GH09I022039	22039229	22042903	0.88	[{'connected_gene': 'CDKN2B', 'score': 26.92}, {'connected_gene': 'CDKN2A', 'score': 11.88}, {'connected_gene': 'CDKN2B-AS1', 'score': 11.88}, {'connected_gene': 'MTAP', 'score': 11.7}, {'connected_gene': 'CDKN2A-AS1', 'score': 11.69}, {'connected_gene': 'UBA52P6', 'score': 11.27}, {'connected_gene': 'ENSG00000274055', 'score': 0.44}]
chr9	GH09I021978	21978546	21980278	0.43	[{'connected_gene': 'CDKN2B', 'score': 21.08}, {'connected_gene': 'UBA52P6', 'score': 11.64}, {'connected_gene': 'MTAP', 'score': 9.98}, {'connected_gene': 'GC09M021977', 'score': 0.77}, {'connected_gene': 'PIR47863', 'score': 0.77}, {'connected_gene': 'CDKN2A', 'score': 0.37}, {'connected_gene': 'CDKN2B-AS1', 'score': 0.37}, {'connected_gene': 'ENSG00000264545', 'score': 0.1}]
chr9	GH09I022029	22029859	22030971	0.89	[{'connected_gene': 'CDKN2B', 'score': 15.47}, {'connected_gene': 'UBA52P6', 'score': 0.37}, {'connected_gene': 'ENSG00000274055', 'score': 0.37}, {'connected_gene': 'CDKN2B-AS1', 'score': 0.28}, {'connected_gene': 'ENSG00000264545', 'score': 0.07}]
chr9	GH09I022007	22007800	22010135	1.95	[{'connected_gene': 'CDKN2B', 'score': 566.48}, {'connected_gene': 'CDKN2B-AS1', 'score': 0.39}, {'connected_gene': 'ENSG00000266446', 'score': 0.39}, {'connected_gene': 'ENSG00000264545', 'score': 0.08}]
chr9	GH09I022005	22005201	22006471	1.19	[{'connected_gene': 'CDKN2B', 'score': 16.44}, {'connected_gene': 'CDKN2B-AS1', 'score': 0.39}, {'connected_gene': 'ENSG00000266446', 'score': 0.39}, {'connected_gene': 'ENSG00000264545', 'score': 0.08}]
chr9	GH09I022000	22000755	22002690	0.38	[{'connected_gene': 'CDKN2B', 'score': 12.88}, {'connected_gene': 'CDKN2B-AS1', 'score': 0.44}, {'connected_gene': 'ENSG00000266446', 'score': 0.44}, {'connected_gene': 'ENSG00000264545', 'score': 0.08}]
chr9	GH09I022050	22050694	22051600	0.63	[{'connected_gene': 'CDKN2B', 'score': 12.95}, {'connected_gene': 'ENSG00000274055', 'score': 0.77}, {'connected_gene': 'CDKN2B-AS1', 'score': 0.22}, {'connected_gene': 'ENSG00000277653', 'score': 0.2}]
chr9	GH09I022083	22083311	22086381	1.49	[{'connected_gene': 'CDKN2B', 'score': 6.3}, {'connected_gene': 'ENSG00000277653', 'score': 0.29}, {'connected_gene': 'ENSG00000274055', 'score': 0.28}, {'connected_gene': 'CDKN2B-AS1', 'score': 0.16}]
chr9	GH09I021974	21974247	21975683	2.07	[{'connected_gene': 'CDKN2A', 'score': 562.71}, {'connected_gene': 'GC09M021977', 'score': 550.77}, {'connected_gene': 'PIR47863', 'score': 550.77}, {'connected_gene': 'MTAP', 'score': 12.46}, {'connected_gene': 'CDKN2B', 'score': 11.13}, {'connected_gene': 'UBA52P6', 'score': 11.11}, {'connected_gene': 'CDKN2A-AS1', 'score': 0.44}, {'connected_gene': 'ENSG00000264545', 'score': 0.09}]
chr9	GH09I022036	22036585	22038573	0.74	[{'connected_gene': 'CDKN2A', 'score': 11.98}, {'connected_gene': 'CDKN2B-AS1', 'score': 11.98}, {'connected_gene': 'MTAP', 'score': 11.78}, {'connected_gene': 'UBA52P6', 'score': 11.76}, {'connected_gene': 'CDKN2B', 'score': 11.76}, {'connected_gene': 'ENSG00000274055', 'score': 0.44}]
chr9	GH09I021996	21996543	21996791	1.13	[{'connected_gene': 'CDKN2A', 'score': 557.14}, {'connected_gene': 'CDKN2B-AS1', 'score': 550.77}, {'connected_gene': 'ENSG00000266446', 'score': 550.77}, {'connected_gene': 'CDKN2B', 'score': 12.56}, {'connected_gene': 'MTAP', 'score': 2.4}, {'connected_gene': 'ENSG00000264545', 'score': 0.08}]
chr9	GH09I021992	21992805	21996531	2.15	[{'connected_gene': 'CDKN2A', 'score': 550.77}, {'connected_gene': 'CDKN2B-AS1', 'score': 550.77}, {'connected_gene': 'ENSG00000266446', 'score': 550.77}, {'connected_gene': 'CDKN2B', 'score': 13.13}, {'connected_gene': 'GC09M021977', 'score': 0.37}, {'connected_gene': 'PIR47863', 'score': 0.37}, {'connected_gene': 'ENSG00000264545', 'score': 0.08}]
chr9	GH09I022237	22237248	22241435	1.33	[{'connected_gene': 'UBA52P6', 'score': 10.84}, {'connected_gene': 'CDKN2B', 'score': 10.84}, {'connected_gene': 'DMRTA1', 'score': 4.97}, {'connected_gene': 'ENSG00000236921', 'score': 0.34}, {'connected_gene': 'GC09M022287', 'score': 0.15}]
chr9	GH09I021983	21983401	21983600	0.51	[{'connected_gene': 'UBA52P6', 'score': 11.66}, {'connected_gene': 'CDKN2B', 'score': 11.66}, {'connected_gene': 'MTAP', 'score': 9.98}, {'connected_gene': 'GC09M021977', 'score': 0.44}, {'connected_gene': 'PIR47863', 'score': 0.44}, {'connected_gene': 'CDKN2A', 'score': 0.39}, {'connected_gene': 'CDKN2B-AS1', 'score': 0.39}, {'connected_gene': 'ENSG00000264545', 'score': 0.09}]
chr9	GH09I021984	21984232	21984382	0.45	[{'connected_gene': 'UBA52P6', 'score': 11.66}, {'connected_gene': 'CDKN2B', 'score': 11.66}, {'connected_gene': 'MTAP', 'score': 9.98}, {'connected_gene': 'GC09M021977', 'score': 0.44}, {'connected_gene': 'PIR47863', 'score': 0.44}, {'connected_gene': 'CDKN2A', 'score': 0.39}, {'connected_gene': 'CDKN2B-AS1', 'score': 0.39}, {'connected_gene': 'ENSG00000264545', 'score': 0.09}]
chr9	GH09I021817	21817236	21817451	0.64	[{'connected_gene': 'UBA52P6', 'score': 10.99}, {'connected_gene': 'CDKN2B', 'score': 10.99}, {'connected_gene': 'TUBB8P1', 'score': 0.77}, {'connected_gene': 'ENSG00000264545', 'score': 0.39}, {'connected_gene': 'MTAP', 'score': 0.39}, {'connected_gene': 'ENSG00000265194', 'score': 0.26}]
chr9	GH09I022012	22012525	22012847	0.22	[{'connected_gene': 'UBA52P6', 'score': 550.77}, {'connected_gene': 'CDKN2B', 'score': 10.88}, {'connected_gene': 'CDKN2B-AS1', 'score': 0.37}, {'connected_gene': 'ENSG00000274055', 'score': 0.29}, {'connected_gene': 'ENSG00000264545', 'score': 0.08}]
chr9	GH09I022038	22038826	22039181	0.31	[{'connected_gene': 'UBA52P6', 'score': 11.27}, {'connected_gene': 'CDKN2B', 'score': 11.27}, {'connected_gene': 'ENSG00000274055', 'score': 0.44}, {'connected_gene': 'CDKN2B-AS1', 'score': 0.26}]
chr9	GH09I022156	22156467	22160601	1.32	[{'connected_gene': 'UBA52P6', 'score': 10.24}, {'connected_gene': 'CDKN2B', 'score': 10.24}, {'connected_gene': 'ENSG00000277653', 'score': 0.26}, {'connected_gene': 'GC09M022195', 'score': 0.25}]
chr9	GH09I022044	22044662	22044891	0.46	[{'connected_gene': 'ENSG00000274055', 'score': 550.77}, {'connected_gene': 'CDKN2A', 'score': 12.43}, {'connected_gene': 'CDKN2B-AS1', 'score': 12.43}, {'connected_gene': 'MTAP', 'score': 12.25}, {'connected_gene': 'UBA52P6', 'score': 11.85}, {'connected_gene': 'CDKN2B', 'score': 11.84}]
chr9	GH09I021809	21809707	21814482	1.52	[{'connected_gene': 'PIR60166', 'score': 550.77}, {'connected_gene': 'TUBB8P1', 'score': 550.77}, {'connected_gene': 'MTAP', 'score': 17.5}, {'connected_gene': 'CDKN2B-AS1', 'score': 11.85}, {'connected_gene': 'CDKN2A', 'score': 11.85}, {'connected_gene': 'CDKN2A-AS1', 'score': 11.59}, {'connected_gene': 'UBA52P6', 'score': 11.49}, {'connected_gene': 'CDKN2B', 'score': 11.49}, {'connected_gene': 'ENSG00000264545', 'score': 0.44}]