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
ENST00000434144	[[19121097, 19121163], [19123562, 19123645], [19126111, 19126307], [19126394, 19126446], [19131212, 19131269], [19149107, 19149276]]	[[19121097, 19121163], [19123562, 19123645], [19126111, 19126307], [19126394, 19126424]]
ENST00000494753	[[19129734, 19131269], [19149107, 19149288]]	None
ENST00000464326	[[19108372, 19108745], [19116356, 19116647], [19118318, 19118444]]	None
ENST00000411567	[[19115759, 19116647], [19118318, 19118453], [19119647, 19119668], [19119781, 19119829], [19121007, 19121163], [19123562, 19123645], [19126111, 19126307], [19126394, 19126446], [19127416, 19127573]]	[[19116245, 19116647], [19118318, 19118453], [19119647, 19119668], [19119781, 19119829], [19121007, 19121163], [19123562, 19123645], [19126111, 19126307], [19126394, 19126424]]
ENST00000276914	[[19115767, 19116647], [19118318, 19118453], [19119647, 19119829], [19120877, 19121163], [19123562, 19123645], [19126111, 19126307], [19126394, 19126446], [19127416, 19127574]]	[[19116245, 19116647], [19118318, 19118453], [19119647, 19119829], [19120877, 19121163], [19123562, 19123645], [19126111, 19126307], [19126394, 19126424]]
ENST00000380465	[[19123232, 19123474], [19123562, 19123645], [19126111, 19126307], [19126394, 19126446], [19127416, 19127474]]	[[19123402, 19123474], [19123562, 19123645], [19126111, 19126307], [19126394, 19126424]]
ENST00000380464	[[19123310, 19123645], [19126111, 19126307], [19126394, 19126446], [19127416, 19127488]]	[[19123538, 19123645], [19126111, 19126307], [19126394, 19126424]]
ENST00000475923	[[19125503, 19126446], [19127416, 19127473]]	None
ENST00000472715	[[19125630, 19126307], [19126394, 19126446], [19127416, 19127488]]	None
NR_038064	[[19115758, 19116647], [19118318, 19118453], [19119647, 19119829], [19120877, 19121163], [19123562, 19123645], [19126111, 19126446], [19127416, 19127604]]	None
NM_001122	[[19115758, 19116647], [19118318, 19118453], [19119647, 19119829], [19120877, 19121163], [19123562, 19123645], [19126111, 19126307], [19126394, 19126446], [19127416, 19127604]]	[[19116245, 19116647], [19118318, 19118453], [19119647, 19119829], [19120877, 19121163], [19123562, 19123645], [19126111, 19126307], [19126394, 19126424]]

Promoter

Chrom	Start	End	Description
chr9	19127478	19127497	CAGE_peak_1_at_PLIN2_5end
chr9	19149283	19149292	CAGE_peak_2_at_PLIN2_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr9	GH09I019173	19173602	19174932	1.4	[{'connected_gene': 'DENND4C', 'score': 44.05}, {'connected_gene': 'SCARNA8', 'score': 31.54}, {'connected_gene': 'HAUS6', 'score': 22.02}, {'connected_gene': 'ENSG00000273226', 'score': 19.79}, {'connected_gene': 'ENSG00000272842', 'score': 13.7}, {'connected_gene': 'PLIN2', 'score': 12.24}, {'connected_gene': 'RPS6', 'score': 11.96}, {'connected_gene': 'SAXO1', 'score': 10.77}, {'connected_gene': 'PSMC3P1', 'score': 10.75}, {'connected_gene': 'RPS6P10', 'score': 0.31}]
chr9	GH09I019180	19180829	19186799	1.6	[{'connected_gene': 'DENND4C', 'score': 22.02}, {'connected_gene': 'PLIN2', 'score': 12.71}, {'connected_gene': 'HAUS6', 'score': 11.59}, {'connected_gene': 'ENSG00000232978', 'score': 11.49}, {'connected_gene': 'RPS6P10', 'score': 0.37}]
chr9	GH09I019192	19192457	19193202	0.43	[{'connected_gene': 'DENND4C', 'score': 6.57}, {'connected_gene': 'RPS6P10', 'score': 0.44}, {'connected_gene': 'PLIN2', 'score': 0.26}]
chr9	GH09I019101	19101206	19103700	2.01	[{'connected_gene': 'HAUS6', 'score': 559.3}, {'connected_gene': 'RPS6', 'score': 10.29}, {'connected_gene': 'DENND4C', 'score': 9.94}, {'connected_gene': 'PLIN2', 'score': 5.25}, {'connected_gene': 'ENSG00000201118', 'score': 0.39}]
chr9	GH09I019171	19171734	19172805	0.94	[{'connected_gene': 'HAUS6', 'score': 12.39}, {'connected_gene': 'PLIN2', 'score': 12.24}, {'connected_gene': 'SAXO1', 'score': 10.77}, {'connected_gene': 'PSMC3P1', 'score': 10.75}, {'connected_gene': 'RPS6P10', 'score': 0.31}]
chr9	GH09I019156	19156043	19156192	0.83	[{'connected_gene': 'HAUS6', 'score': 11.54}, {'connected_gene': 'RRAGA', 'score': 5.05}, {'connected_gene': 'PLIN2', 'score': 0.44}, {'connected_gene': 'RPS6P10', 'score': 0.26}]
chr9	GH09I018476	18476177	18481395	1.05	[{'connected_gene': 'PLIN2', 'score': 5.46}, {'connected_gene': 'ADAMTSL1', 'score': 4.0}, {'connected_gene': 'LOC105369293', 'score': 0.26}, {'connected_gene': 'MIR3152', 'score': 0.16}]
chr9	GH09I019297	19297872	19299065	0.2	[{'connected_gene': 'PLIN2', 'score': 10.42}, {'connected_gene': 'HAUS6', 'score': 10.1}, {'connected_gene': 'ENSG00000273226', 'score': 9.67}, {'connected_gene': 'ENSG00000232978', 'score': 0.44}, {'connected_gene': 'PIR43296', 'score': 0.2}, {'connected_gene': 'DENND4C', 'score': 0.2}]
chr9	GH09I019123	19123956	19130858	2.45	[{'connected_gene': 'PLIN2', 'score': 569.26}, {'connected_gene': 'HAUS6', 'score': 19.66}, {'connected_gene': 'ACER2', 'score': 3.26}, {'connected_gene': 'GC09M019109', 'score': 0.34}]
chr9	GH09I019223	19223261	19224392	0.66	[{'connected_gene': 'PLIN2', 'score': 11.18}, {'connected_gene': 'HAUS6', 'score': 10.9}, {'connected_gene': 'SAXO1', 'score': 9.72}, {'connected_gene': 'PSMC3P1', 'score': 9.71}, {'connected_gene': 'ENSG00000272842', 'score': 7.16}, {'connected_gene': 'DENND4C', 'score': 0.44}, {'connected_gene': 'RPS6P10', 'score': 0.34}]
chr9	GH09I019209	19208078	19208092	0.2	[{'connected_gene': 'PLIN2', 'score': 11.28}, {'connected_gene': 'HAUS6', 'score': 11.01}, {'connected_gene': 'RPS6P10', 'score': 0.44}, {'connected_gene': 'DENND4C', 'score': 0.34}]
chr9	GH09I019208	19208115	19209406	0.6	[{'connected_gene': 'PLIN2', 'score': 11.28}, {'connected_gene': 'HAUS6', 'score': 11.0}, {'connected_gene': 'RPS6P10', 'score': 0.44}, {'connected_gene': 'DENND4C', 'score': 0.34}]
chr9	GH09I019111	19111274	19113200	0.46	[{'connected_gene': 'PLIN2', 'score': 12.09}, {'connected_gene': 'HAUS6', 'score': 5.42}, {'connected_gene': 'GC09M019109', 'score': 0.44}]
chr9	GH09I019158	19158835	19164429	1.72	[{'connected_gene': 'PLIN2', 'score': 5.6}, {'connected_gene': 'ACER2', 'score': 2.78}, {'connected_gene': 'RPS6P10', 'score': 0.28}]
chr9	GH09I019118	19118586	19120429	0.72	[{'connected_gene': 'PLIN2', 'score': 18.15}, {'connected_gene': 'SAXO1', 'score': 10.03}, {'connected_gene': 'PSMC3P1', 'score': 10.0}, {'connected_gene': 'HAUS6', 'score': 5.36}, {'connected_gene': 'GC09M019109', 'score': 0.39}]
chr9	GH09I019115	19115757	19117212	0.86	[{'connected_gene': 'PLIN2', 'score': 18.48}, {'connected_gene': 'SAXO1', 'score': 10.04}, {'connected_gene': 'PSMC3P1', 'score': 10.01}, {'connected_gene': 'GC09M019109', 'score': 0.44}]
chr9	GH09I019166	19166601	19166800	0.31	[{'connected_gene': 'PLIN2', 'score': 0.37}, {'connected_gene': 'RPS6P10', 'score': 0.29}]
chr9	GH09I019137	19137285	19137787	0.31	[{'connected_gene': 'PLIN2', 'score': 0.39}, {'connected_gene': 'GC09M019109', 'score': 0.29}]
chr9	GH09I019145	19145337	19147538	0.31	[{'connected_gene': 'PLIN2', 'score': 0.77}, {'connected_gene': 'GC09M019109', 'score': 0.28}]
chr9	GH09I019142	19142800	19143001	0.89	[{'connected_gene': 'PLIN2', 'score': 0.44}, {'connected_gene': 'GC09M019109', 'score': 0.28}]
chr9	GH09I019114	19114123	19114272	0.91	[{'connected_gene': 'PLIN2', 'score': 17.65}, {'connected_gene': 'GC09M019109', 'score': 0.44}]
chr9	GH09I019143	19142401	19142601	0.88	[{'connected_gene': 'PLIN2', 'score': 0.44}, {'connected_gene': 'GC09M019109', 'score': 0.28}]
chr9	GH09I019147	19147635	19150062	0.49	[{'connected_gene': 'PLIN2', 'score': 554.96}, {'connected_gene': 'GC09M019109', 'score': 0.26}]
chr9	GH09I019150	19150393	19155909	1.72	[{'connected_gene': 'RRAGA', 'score': 15.85}, {'connected_gene': 'HAUS6', 'score': 11.54}, {'connected_gene': 'SAXO1', 'score': 9.88}, {'connected_gene': 'PSMC3P1', 'score': 9.86}, {'connected_gene': 'PLIN2', 'score': 2.94}, {'connected_gene': 'RPS6P10', 'score': 0.25}]
chr9	GH09I019229	19229385	19234173	2.51	[{'connected_gene': 'GC09P019231', 'score': 550.77}, {'connected_gene': 'DENND4C', 'score': 550.77}, {'connected_gene': 'PLIN2', 'score': 12.81}, {'connected_gene': 'ENSG00000232978', 'score': 12.29}, {'connected_gene': 'HAUS6', 'score': 11.34}, {'connected_gene': 'ENSG00000273226', 'score': 9.83}, {'connected_gene': 'ENSG00000272842', 'score': 4.6}]
chr9	GH09I019236	19236401	19236600	0.2	[{'connected_gene': 'ENSG00000232978', 'score': 12.05}, {'connected_gene': 'HAUS6', 'score': 11.33}, {'connected_gene': 'PLIN2', 'score': 10.99}, {'connected_gene': 'ENSG00000273226', 'score': 9.76}, {'connected_gene': 'GC09P019231', 'score': 0.44}, {'connected_gene': 'DENND4C', 'score': 0.44}]
chr9	GH09I019028	19028963	19029112	0.56	[{'connected_gene': 'GC09M019028', 'score': 550.77}, {'connected_gene': 'PIR34207', 'score': 550.77}, {'connected_gene': 'HAUS6', 'score': 14.83}, {'connected_gene': 'PLIN2', 'score': 4.88}, {'connected_gene': 'SAXO1', 'score': 0.34}]