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
ENST00000361570	[[21967750, 21968241], [21970900, 21971207], [21994137, 21994490]]	[[21971001, 21971207], [21994137, 21994453]]
ENST00000304494	[[21967751, 21968241], [21970900, 21971207], [21974676, 21975097]]	[[21968227, 21968241], [21970900, 21971207], [21974676, 21974826]]
ENST00000579755	[[21967751, 21968241], [21970900, 21971207], [21994137, 21994623]]	[[21971001, 21971207], [21994137, 21994330]]
ENST00000579122	[[21967989, 21968241], [21970974, 21971207], [21974676, 21974857]]	[[21968207, 21968241], [21970974, 21971207], [21974676, 21974826]]
ENST00000578845	[[21967994, 21968241], [21970900, 21971331]]	[[21968227, 21968241], [21970900, 21971204]]
ENST00000530628	[[21967999, 21968241], [21970974, 21971207], [21994137, 21994410]]	[[21971001, 21971207], [21994137, 21994330]]
ENST00000498124	[[21968054, 21968241], [21968573, 21968770], [21970900, 21971207], [21974676, 21974865]]	[[21968723, 21968770], [21970900, 21971207], [21974676, 21974826]]
ENST00000498628	[[21968103, 21968241], [21970900, 21971207], [21994819, 21995300]]	[[21968227, 21968241], [21970900, 21971204]]
ENST00000380151	[[21968178, 21968241], [21970900, 21971207], [21974402, 21974826]]	[[21974475, 21974826]]
ENST00000494262	[[21968180, 21968241], [21970900, 21971207], [21993880, 21994052], [21994819, 21995268]]	[[21968227, 21968241], [21970900, 21971204]]
ENST00000446177	[[21968723, 21968770], [21970900, 21971207], [21974676, 21975038]]	[[21968723, 21968770], [21970900, 21971207], [21974676, 21974826]]
ENST00000479692	[[21969567, 21969792], [21970900, 21971207], [21971333, 21971345]]	[[21969730, 21969792], [21970900, 21971204]]
ENST00000577854	[[21969581, 21969792], [21970235, 21970466]]	None
ENST00000380150	[[21970440, 21970502], [21970900, 21971331]]	None
ENST00000497750	[[21970714, 21971207], [21971327, 21971399]]	[[21970889, 21971204]]
ENST00000470819	[[21989338, 21989954], [21993880, 21994067], [21994819, 21994872]]	None
ENST00000582361	[[21994026, 21994319]]	None
NM_058197	[[21967750, 21968241], [21970900, 21971207], [21974402, 21974826]]	[[21974475, 21974826]]
NM_001195132	[[21967750, 21968241], [21968573, 21968770], [21970900, 21971207], [21974676, 21975132]]	[[21968723, 21968770], [21970900, 21971207], [21974676, 21974826]]
NM_000077	[[21967750, 21968241], [21970900, 21971207], [21974676, 21975132]]	[[21968227, 21968241], [21970900, 21971207], [21974676, 21974826]]
NM_058195	[[21967750, 21968241], [21970900, 21971207], [21994137, 21994490]]	[[21971001, 21971207], [21994137, 21994330]]

Promoter

Chrom	Start	End	Description
chr9	21971016	21971030	CAGE_peak_18_at_CDKN2A_5end
chr9	21974667	21974672	CAGE_peak_34_at_CDKN2A_5end
chr9	21974747	21974756	CAGE_peak_27_at_CDKN2A_5end
chr9	21974796	21974810	CAGE_peak_16_at_CDKN2A_5end
chr9	21974820	21974906	CAGE_peak_2_at_CDKN2A_5end
chr9	21974943	21974946	CAGE_peak_25_at_CDKN2A_5end
chr9	21975060	21975078	CAGE_peak_4_at_CDKN2A_5end
chr9	21975088	21975104	CAGE_peak_11_at_CDKN2A_5end
chr9	21975118	21975140	CAGE_peak_8_at_CDKN2A_5end
chr9	21975146	21975164	CAGE_peak_5_at_CDKN2A_5end
chr9	21975236	21975249	CAGE_peak_15_at_CDKN2A_5end
chr9	21994311	21994320	CAGE_peak_10_at_CDKN2A_5end
chr9	21994330	21994341	CAGE_peak_6_at_CDKN2A_5end
chr9	21994344	21994440	CAGE_peak_1_at_CDKN2A_5end
chr9	21994562	21994573	CAGE_peak_17_at_CDKN2A_5end
chr9	21994580	21994594	CAGE_peak_9_at_CDKN2A_5end
chr9	21994597	21994638	CAGE_peak_3_at_CDKN2A_5end
chr9	21994750	21994776	CAGE_peak_13_at_CDKN2A_5end
chr9	21995249	21995276	CAGE_peak_12_at_CDKN2A_5end
chr9	21995302	21995358	CAGE_peak_7_at_CDKN2A_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	GH09I021991	21991001	21991600	0.69	[{'connected_gene': 'CDKN2A-AS1', 'score': 13.13}, {'connected_gene': 'UBA52P6', 'score': 12.6}, {'connected_gene': 'CDKN2A', 'score': 0.77}, {'connected_gene': 'CDKN2B-AS1', 'score': 0.77}, {'connected_gene': 'GC09M021977', 'score': 0.37}, {'connected_gene': 'PIR47863', 'score': 0.37}, {'connected_gene': 'ENSG00000264545', 'score': 0.09}]
chr9	GH09I021852	21852423	21857533	0.84	[{'connected_gene': 'MTAP', 'score': 24.69}, {'connected_gene': 'CDKN2B-AS1', 'score': 11.64}, {'connected_gene': 'CDKN2A', 'score': 11.63}, {'connected_gene': 'ENSG00000265194', 'score': 0.44}, {'connected_gene': 'TUBB8P1', 'score': 0.26}, {'connected_gene': 'ENSG00000264545', 'score': 0.23}]
chr9	GH09I021674	21674146	21691044	1.53	[{'connected_gene': 'MIR31', 'score': 9.98}, {'connected_gene': 'MTAP', 'score': 8.64}, {'connected_gene': 'CDKN2A', 'score': 5.99}, {'connected_gene': 'KHSRPP1', 'score': 0.39}, {'connected_gene': 'ENSG00000227443', 'score': 0.26}]
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	GH09I022124	22124087	22125290	0.82	[{'connected_gene': 'CDKN2A', 'score': 11.23}, {'connected_gene': 'CDKN2A-AS1', 'score': 11.21}, {'connected_gene': 'ENSG00000277653', 'score': 0.44}, {'connected_gene': 'GC09M022195', 'score': 0.18}]
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	GH09I022111	22111188	22112547	0.58	[{'connected_gene': 'CDKN2A', 'score': 10.78}, {'connected_gene': 'CDKN2B-AS1', 'score': 10.78}, {'connected_gene': 'MTAP', 'score': 10.71}, {'connected_gene': 'ENSG00000277653', 'score': 0.44}, {'connected_gene': 'ENSG00000274055', 'score': 0.2}]
chr9	GH09I022106	22106687	22109801	0.99	[{'connected_gene': 'CDKN2A', 'score': 10.79}, {'connected_gene': 'CDKN2B-AS1', 'score': 10.79}, {'connected_gene': 'MTAP', 'score': 10.71}, {'connected_gene': 'ENSG00000277653', 'score': 0.44}, {'connected_gene': 'ENSG00000274055', 'score': 0.21}]
chr9	GH09I022115	22115082	22115231	0.4	[{'connected_gene': 'CDKN2A', 'score': 10.78}, {'connected_gene': 'CDKN2B-AS1', 'score': 10.78}, {'connected_gene': 'MTAP', 'score': 10.71}, {'connected_gene': 'ENSG00000277653', 'score': 0.77}, {'connected_gene': 'ENSG00000274055', 'score': 0.2}]
chr9	GH09I022113	22113114	22113754	0.49	[{'connected_gene': 'CDKN2A', 'score': 10.78}, {'connected_gene': 'CDKN2B-AS1', 'score': 10.78}, {'connected_gene': 'MTAP', 'score': 10.71}, {'connected_gene': 'ENSG00000277653', 'score': 0.77}, {'connected_gene': 'ENSG00000274055', 'score': 0.2}]
chr9	GH09I022112	22112782	22112814	0.4	[{'connected_gene': 'CDKN2A', 'score': 10.78}, {'connected_gene': 'CDKN2B-AS1', 'score': 10.78}, {'connected_gene': 'MTAP', 'score': 10.71}, {'connected_gene': 'ENSG00000277653', 'score': 0.77}, {'connected_gene': 'ENSG00000274055', 'score': 0.2}]
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	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	GH09I022116	22116508	22119608	1.36	[{'connected_gene': 'ENSG00000277653', 'score': 550.77}, {'connected_gene': 'MTAP', 'score': 21.78}, {'connected_gene': 'ENSG00000265194', 'score': 11.94}, {'connected_gene': 'KLHL9', 'score': 11.39}, {'connected_gene': 'CDKN2A', 'score': 10.78}, {'connected_gene': 'CDKN2B-AS1', 'score': 10.78}, {'connected_gene': 'GC09M022195', 'score': 0.17}]
chr9	GH09I021977	21977503	21978203	0.43	[{'connected_gene': 'GC09M021977', 'score': 550.77}, {'connected_gene': 'PIR47863', 'score': 550.77}, {'connected_gene': 'MTAP', 'score': 12.52}, {'connected_gene': 'CDKN2A', 'score': 0.37}, {'connected_gene': 'CDKN2B-AS1', 'score': 0.37}, {'connected_gene': 'ENSG00000264545', 'score': 0.1}]
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}]