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
ENST00000300055	[[90207595, 90209173], [90210166, 90210412], [90210832, 90211024], [90212730, 90212903], [90213210, 90213475], [90214712, 90214795], [90216440, 90216645], [90220675, 90220734], [90222481, 90222633]]	[[90208813, 90209173], [90210166, 90210412], [90210832, 90211024], [90212730, 90212903], [90213210, 90213475], [90214712, 90214795], [90216440, 90216645], [90220675, 90220720]]
ENST00000560330	[[90207597, 90208172], [90210328, 90210412], [90210832, 90210871]]	[[90208073, 90208172], [90210328, 90210412], [90210832, 90210871]]
ENST00000430628	[[90207602, 90209173], [90210166, 90210412], [90210832, 90211024], [90212730, 90212903], [90213210, 90213475], [90214712, 90214795], [90216440, 90216645], [90220675, 90220734], [90222552, 90222658]]	[[90208813, 90209173], [90210166, 90210412], [90210832, 90211024], [90212730, 90212903], [90213210, 90213475], [90214712, 90214795], [90216440, 90216645], [90220675, 90220720]]
ENST00000531697	[[90219856, 90220734], [90222552, 90222648]]	None
NM_002666	[[90207597, 90209173], [90210166, 90210412], [90210832, 90211024], [90212730, 90212903], [90213210, 90213475], [90214712, 90214795], [90216440, 90216645], [90220675, 90220734], [90222481, 90222648]]	[[90208813, 90209173], [90210166, 90210412], [90210832, 90211024], [90212730, 90212903], [90213210, 90213475], [90214712, 90214795], [90216440, 90216645], [90220675, 90220720]]
NM_001145311	[[90207597, 90209173], [90210166, 90210412], [90210832, 90211024], [90212730, 90212903], [90213210, 90213475], [90214712, 90214795], [90216440, 90216645], [90220675, 90220734], [90222552, 90222648]]	[[90208813, 90209173], [90210166, 90210412], [90210832, 90211024], [90212730, 90212903], [90213210, 90213475], [90214712, 90214795], [90216440, 90216645], [90220675, 90220720]]

Promoter

Chrom	Start	End	Description
chr15	90222565	90222582	CAGE_peak_4_at_PLIN1_5end
chr15	90222589	90222607	CAGE_peak_1_at_PLIN1_5end
chr15	90222610	90222634	CAGE_peak_2_at_PLIN1_5end
chr15	90222642	90222653	CAGE_peak_5_at_PLIN1_5end
chr15	90222678	90222697	CAGE_peak_3_at_PLIN1_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr15	GH15I089664	89664802	89666856	0.89	[{'connected_gene': 'PEX11A', 'score': 11.81}, {'connected_gene': 'WDR93', 'score': 11.81}, {'connected_gene': 'RPL36AP43', 'score': 11.81}, {'connected_gene': 'MESP1', 'score': 10.3}, {'connected_gene': 'TICRR', 'score': 7.98}, {'connected_gene': 'KIF7', 'score': 0.77}, {'connected_gene': 'PLIN1', 'score': 0.39}]
chr15	GH15I089728	89728174	89728730	0.2	[{'connected_gene': 'MESP1', 'score': 12.62}, {'connected_gene': 'PEX11A', 'score': 11.58}, {'connected_gene': 'WDR93', 'score': 11.58}, {'connected_gene': 'RPL36AP43', 'score': 11.57}, {'connected_gene': 'PLIN1', 'score': 10.64}, {'connected_gene': 'GC15M089695', 'score': 0.44}]
chr15	GH15I089797	89797511	89798563	0.46	[{'connected_gene': 'MESP1', 'score': 11.46}, {'connected_gene': 'PLIN1', 'score': 10.12}, {'connected_gene': 'ANPEP', 'score': 0.37}, {'connected_gene': 'MESP2', 'score': 0.28}]
chr15	GH15I089680	89679357	89679416	0.88	[{'connected_gene': 'PLIN1', 'score': 550.77}, {'connected_gene': 'PEX11A', 'score': 0.39}, {'connected_gene': 'KIF7', 'score': 0.37}]
chr15	GH15I089679	89679965	89681480	1.25	[{'connected_gene': 'PLIN1', 'score': 550.77}, {'connected_gene': 'GC15M089688', 'score': 0.44}, {'connected_gene': 'PEX11A', 'score': 0.39}]
chr15	GH15I089673	89673230	89673379	0.77	[{'connected_gene': 'PLIN1', 'score': 0.44}, {'connected_gene': 'KIF7', 'score': 0.39}]
chr15	GH15I089671	89671386	89671624	0.4	[{'connected_gene': 'PLIN1', 'score': 5.95}, {'connected_gene': 'KIF7', 'score': 0.44}]
chr15	GH15I089529	89529974	89532647	0.31	[{'connected_gene': 'RHCG', 'score': 13.31}, {'connected_gene': 'PLIN1', 'score': 10.21}, {'connected_gene': 'FANCI', 'score': 5.21}, {'connected_gene': 'GDPGP1', 'score': 4.55}, {'connected_gene': 'LINC00928', 'score': 0.44}, {'connected_gene': 'ENSG00000259713', 'score': 0.39}, {'connected_gene': 'TICRR', 'score': 0.26}]
chr15	GH15I089565	89565041	89567619	0.56	[{'connected_gene': 'KIF7', 'score': 16.65}, {'connected_gene': 'TICRR', 'score': 10.63}, {'connected_gene': 'PLIN1', 'score': 9.85}, {'connected_gene': 'LINC00928', 'score': 0.26}, {'connected_gene': 'ENSG00000259713', 'score': 0.25}]
chr15	GH15I089662	89662307	89664199	0.66	[{'connected_gene': 'KIF7', 'score': 550.77}, {'connected_gene': 'PEX11A', 'score': 11.79}, {'connected_gene': 'WDR93', 'score': 11.79}, {'connected_gene': 'RPL36AP43', 'score': 11.79}, {'connected_gene': 'MESP1', 'score': 10.3}, {'connected_gene': 'TICRR', 'score': 4.79}, {'connected_gene': 'ENSG00000228998', 'score': 4.61}, {'connected_gene': 'PLIN1', 'score': 0.37}]
chr15	GH15I089855	89855935	89866501	1.08	[{'connected_gene': 'AP3S2', 'score': 72.79}, {'connected_gene': 'RNU6-1111P', 'score': 12.18}, {'connected_gene': 'RNU7-111P', 'score': 12.15}, {'connected_gene': 'C15orf38-AP3S2', 'score': 12.1}, {'connected_gene': 'ARPIN', 'score': 12.1}, {'connected_gene': 'MESP2', 'score': 11.8}, {'connected_gene': 'MESP1', 'score': 11.74}, {'connected_gene': 'ZNF710', 'score': 10.91}, {'connected_gene': 'PLIN1', 'score': 10.45}, {'connected_gene': 'ANPEP', 'score': 8.3}, {'connected_gene': 'MIR5094', 'score': 0.39}, {'connected_gene': 'LOC100631255', 'score': 0.39}]
chr15	GH15I089846	89846832	89853341	1.42	[{'connected_gene': 'MIR5094', 'score': 550.77}, {'connected_gene': 'AP3S2', 'score': 57.97}, {'connected_gene': 'MESP1', 'score': 11.78}, {'connected_gene': 'MESP2', 'score': 11.73}, {'connected_gene': 'ANPEP', 'score': 10.15}, {'connected_gene': 'PLIN1', 'score': 10.04}, {'connected_gene': 'WDR93', 'score': 5.39}, {'connected_gene': 'ZNF710', 'score': 5.05}, {'connected_gene': 'CIB1', 'score': 2.06}, {'connected_gene': 'LOC105370965', 'score': 0.31}, {'connected_gene': 'C15orf38-AP3S2', 'score': 0.21}]
chr15	GH15I089876	89875534	89877415	0.62	[{'connected_gene': 'LOC100631255', 'score': 550.77}, {'connected_gene': 'AP3S2', 'score': 16.87}, {'connected_gene': 'ZNF710', 'score': 16.21}, {'connected_gene': 'MESP1', 'score': 11.71}, {'connected_gene': 'PLIN1', 'score': 10.23}, {'connected_gene': 'SEMA4B', 'score': 1.53}, {'connected_gene': 'ANPEP', 'score': 1.37}, {'connected_gene': 'GC15P089882', 'score': 0.77}, {'connected_gene': 'GC15M089870', 'score': 0.39}, {'connected_gene': 'C15orf38-AP3S2', 'score': 0.28}]