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
ENST00000396153	[[50905149, 50907195], [50941135, 50941351], [50956259, 50956337], [50957392, 50957473], [51001040, 51001129], [51005263, 51005400], [51032748, 51032903], [51048289, 51048371], [51049323, 51049387], [51050356, 51050483], [51061792, 51061888], [51121113, 51121200], [51171457, 51171563], [51204534, 51204626], [51210355, 51210447], [51253671, 51253877], [51267302, 51267349], [51323600, 51323669], [51425438, 51425935]]	[[50907111, 50907195], [50941135, 50941351], [50956259, 50956337], [50957392, 50957473], [51001040, 51001129], [51005263, 51005400], [51032748, 51032903], [51048289, 51048371], [51049323, 51049387], [51050356, 51050483], [51061792, 51061888], [51121113, 51121200], [51171457, 51171563], [51204534, 51204626], [51210355, 51210447], [51253671, 51253877], [51267302, 51267349], [51323600, 51323669], [51425438, 51425483]]
ENST00000371778	[[50906708, 50907195], [50941135, 50941351], [50956259, 50956337], [50957392, 50957473], [51001040, 51001129], [51005263, 51005400], [51032748, 51032903], [51048289, 51048371], [51049323, 51049387], [51050356, 51050483], [51061792, 51061888], [51121113, 51121200], [51171457, 51171563], [51204534, 51204626], [51210355, 51210447], [51253671, 51253877], [51267302, 51267349], [51323600, 51323669], [51425438, 51425525], [51425812, 51425833]]	[[50907111, 50907195], [50941135, 50941351], [50956259, 50956337], [50957392, 50957473], [51001040, 51001129], [51005263, 51005400], [51032748, 51032903], [51048289, 51048371], [51049323, 51049387], [51050356, 51050483], [51061792, 51061888], [51121113, 51121200], [51171457, 51171563], [51204534, 51204626], [51210355, 51210447], [51253671, 51253877], [51267302, 51267349], [51323600, 51323669], [51425438, 51425483]]
ENST00000487898	[[51171455, 51171563], [51204534, 51204626], [51210355, 51210447], [51253671, 51253877], [51267302, 51267349], [51323600, 51323669], [51425343, 51425410]]	None
ENST00000545823	[[50906944, 50907195], [50941135, 50941351], [50956259, 50956337], [50957392, 50957473], [51001040, 51001129], [51005263, 51005400], [51032748, 51032903], [51048289, 51048371], [51049323, 51049387], [51050356, 51050483], [51061792, 51061888], [51078002, 51078170]]	[[50907111, 50907195], [50941135, 50941351], [50956259, 50956337], [50957392, 50957473], [51001040, 51001129], [51005263, 51005400], [51032748, 51032903], [51048289, 51048371], [51049323, 51049387], [51050356, 51050483], [51061792, 51061888], [51078002, 51078020]]
ENST00000494400	[[50906947, 50907195], [50917464, 50917865], [50941135, 50941351], [50956259, 50956337], [50957392, 50957473], [51001040, 51001129], [51005263, 51005400], [51032748, 51032903], [51048289, 51048371], [51049323, 51049387], [51050356, 51050483], [51061792, 51061888], [51121113, 51121200], [51171457, 51171723]]	[[50917757, 50917865], [50941135, 50941351], [50956259, 50956337], [50957392, 50957473], [51001040, 51001129], [51005263, 51005400], [51032748, 51032903], [51048289, 51048371], [51049323, 51049387], [51050356, 51050483], [51061792, 51061888], [51121113, 51121200], [51171457, 51171532]]
ENST00000472808	[[51005263, 51005400], [51032748, 51032903], [51048289, 51048371], [51049323, 51049387], [51050356, 51050483], [51061792, 51061888], [51072518, 51072616]]	None
NM_007051	[[50906934, 50907195], [50941135, 50941351], [50956259, 50956337], [50957392, 50957473], [51001040, 51001129], [51005263, 51005400], [51032748, 51032903], [51048289, 51048371], [51049323, 51049387], [51050356, 51050483], [51061792, 51061888], [51121113, 51121200], [51171457, 51171563], [51204534, 51204626], [51210355, 51210447], [51253671, 51253877], [51267302, 51267349], [51323600, 51323669], [51425438, 51425936]]	[[50907111, 50907195], [50941135, 50941351], [50956259, 50956337], [50957392, 50957473], [51001040, 51001129], [51005263, 51005400], [51032748, 51032903], [51048289, 51048371], [51049323, 51049387], [51050356, 51050483], [51061792, 51061888], [51121113, 51121200], [51171457, 51171563], [51204534, 51204626], [51210355, 51210447], [51253671, 51253877], [51267302, 51267349], [51323600, 51323669], [51425438, 51425483]]

Promoter

Chrom	Start	End	Description
chr1	51425587	51425597	CAGE_peak_4_at_FAF1_5end
chr1	51425722	51425765	CAGE_peak_3_at_FAF1_5end
chr1	51425772	51425897	CAGE_peak_1_at_FAF1_5end
chr1	51425902	51425976	CAGE_peak_2_at_FAF1_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr1	GH01I050668	50668089	50668238	0.2	[{'connected_gene': 'DMRTA2', 'score': 10.5}, {'connected_gene': 'GC01M050672', 'score': 0.44}, {'connected_gene': 'GC01M050645', 'score': 0.37}, {'connected_gene': 'FAF1', 'score': 0.06}]
chr1	GH01I050620	50620229	50621906	0.63	[{'connected_gene': 'DMRTA2', 'score': 3.96}, {'connected_gene': 'GC01P050603', 'score': 0.37}, {'connected_gene': 'GC01M050645', 'score': 0.31}, {'connected_gene': 'FAF1', 'score': 0.05}]
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	GH01I050846	50846350	50846493	0.24	[{'connected_gene': 'MRPS6P2', 'score': 550.77}, {'connected_gene': 'GC01M050792', 'score': 0.37}, {'connected_gene': 'FAF1', 'score': 0.14}]
chr1	GH01I050842	50842000	50842200	0.43	[{'connected_gene': 'MRPS6P2', 'score': 0.77}, {'connected_gene': 'GC01M050792', 'score': 0.39}, {'connected_gene': 'FAF1', 'score': 0.13}]
chr1	GH01I050852	50852247	50854118	0.67	[{'connected_gene': 'EPS15', 'score': 6.93}, {'connected_gene': 'MRPS6P2', 'score': 0.44}, {'connected_gene': 'GC01M050858', 'score': 0.44}, {'connected_gene': 'FAF1', 'score': 0.14}]
chr1	GH01I050577	50577947	50578226	0.4	[{'connected_gene': 'EPS15', 'score': 6.71}, {'connected_gene': 'GC01P050583', 'score': 0.77}, {'connected_gene': 'GC01M050536', 'score': 0.26}, {'connected_gene': 'FAF1', 'score': 0.05}]
chr1	GH01I051513	51513957	51521639	2.32	[{'connected_gene': 'EPS15', 'score': 557.82}, {'connected_gene': 'LOC105378720', 'score': 550.77}, {'connected_gene': 'ENSG00000227070', 'score': 550.77}, {'connected_gene': 'ENSG00000266993', 'score': 35.02}, {'connected_gene': 'KTI12', 'score': 13.89}, {'connected_gene': 'FAF1', 'score': 11.04}, {'connected_gene': 'LOC100190934', 'score': 10.91}, {'connected_gene': 'ORC1', 'score': 10.79}]
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	GH01I050716	50716922	50718214	0.75	[{'connected_gene': 'ELAVL4', 'score': 12.1}, {'connected_gene': 'LINC01562', 'score': 10.26}, {'connected_gene': 'DMRTA2', 'score': 4.63}, {'connected_gene': 'GC01M050693', 'score': 0.44}, {'connected_gene': 'GC01P050735', 'score': 0.39}, {'connected_gene': 'GC01P050737', 'score': 0.39}, {'connected_gene': 'GC01P050734', 'score': 0.39}, {'connected_gene': 'GC01P050738', 'score': 0.39}, {'connected_gene': 'GC01P050733', 'score': 0.39}, {'connected_gene': 'GC01P050736', 'score': 0.39}, {'connected_gene': 'GC01P050732', 'score': 0.39}, {'connected_gene': 'FAF1', 'score': 0.07}]
chr1	GH01I050836	50836525	50836911	0.26	[{'connected_gene': 'FAF1', 'score': 1.84}, {'connected_gene': 'MRPS6P2', 'score': 0.44}, {'connected_gene': 'GC01M050792', 'score': 0.44}]
chr1	GH01I051849	51849830	51851427	0.9	[{'connected_gene': 'FAF1', 'score': 10.54}, {'connected_gene': 'ZCCHC11', 'score': 10.01}, {'connected_gene': 'NRDC', 'score': 7.8}, {'connected_gene': 'ENSG00000266993', 'score': 6.49}, {'connected_gene': 'GC01M051858', 'score': 0.44}, {'connected_gene': 'MIR761', 'score': 0.39}]
chr1	GH01I050458	50458801	50459000	0.49	[{'connected_gene': 'LOC105378715', 'score': 0.39}, {'connected_gene': 'GC01M050500', 'score': 0.26}, {'connected_gene': 'FAF1', 'score': 0.03}]
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	GH01I050779	50779916	50780300	0.52	[{'connected_gene': 'PHBP12', 'score': 550.77}, {'connected_gene': 'GC01P050735', 'score': 0.25}, {'connected_gene': 'GC01P050737', 'score': 0.25}, {'connected_gene': 'GC01P050734', 'score': 0.25}, {'connected_gene': 'GC01P050739', 'score': 0.25}, {'connected_gene': 'GC01P050738', 'score': 0.25}, {'connected_gene': 'GC01P050733', 'score': 0.25}, {'connected_gene': 'GC01P050736', 'score': 0.25}, {'connected_gene': 'GC01P050732', 'score': 0.25}, {'connected_gene': 'FAF1', 'score': 0.09}]
chr1	GH01I050873	50873352	50874112	1.16	[{'connected_gene': 'ENSG00000266993', 'score': 11.54}, {'connected_gene': 'GC01P050863', 'score': 0.44}, {'connected_gene': 'FAF1', 'score': 0.17}]
chr1	GH01I050644	50644365	50645232	0.38	[{'connected_gene': 'GC01M050645', 'score': 0.77}, {'connected_gene': 'GC01P050603', 'score': 0.26}, {'connected_gene': 'FAF1', 'score': 0.06}]
chr1	GH01I050540	50540418	50541642	0.71	[{'connected_gene': 'GC01M050536', 'score': 0.77}, {'connected_gene': 'GC01P050583', 'score': 0.26}, {'connected_gene': 'FAF1', 'score': 0.05}]
chr1	GH01I050568	50568874	50570998	1.29	[{'connected_gene': 'GC01P050583', 'score': 0.39}, {'connected_gene': 'GC01M050536', 'score': 0.29}, {'connected_gene': 'FAF1', 'score': 0.05}]
chr1	GH01I050720	50720601	50721150	0.87	[{'connected_gene': 'GC01P050735', 'score': 0.39}, {'connected_gene': 'GC01P050737', 'score': 0.39}, {'connected_gene': 'GC01P050734', 'score': 0.39}, {'connected_gene': 'GC01P050738', 'score': 0.39}, {'connected_gene': 'GC01P050733', 'score': 0.39}, {'connected_gene': 'GC01P050736', 'score': 0.39}, {'connected_gene': 'GC01P050732', 'score': 0.39}, {'connected_gene': 'GC01M050693', 'score': 0.39}, {'connected_gene': 'FAF1', 'score': 0.07}]
chr1	GH01I050633	50633169	50634241	0.92	[{'connected_gene': 'GC01M050645', 'score': 0.37}, {'connected_gene': 'GC01P050603', 'score': 0.29}, {'connected_gene': 'FAF1', 'score': 0.05}]
chr1	GH01I050703	50703885	50704192	1.02	[{'connected_gene': 'GC01M050693', 'score': 0.77}, {'connected_gene': 'GC01M050672', 'score': 0.31}, {'connected_gene': 'FAF1', 'score': 0.07}]
chr1	GH01I050705	50705429	50706669	0.76	[{'connected_gene': 'GC01M050693', 'score': 0.77}, {'connected_gene': 'GC01M050672', 'score': 0.31}, {'connected_gene': 'FAF1', 'score': 0.07}]
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}]
chr1	GH01I050749	50749789	50749800	0.36	[{'connected_gene': 'GC01P050735', 'score': 0.37}, {'connected_gene': 'GC01P050737', 'score': 0.37}, {'connected_gene': 'GC01P050734', 'score': 0.37}, {'connected_gene': 'GC01P050739', 'score': 0.37}, {'connected_gene': 'GC01P050738', 'score': 0.37}, {'connected_gene': 'GC01P050733', 'score': 0.37}, {'connected_gene': 'GC01P050736', 'score': 0.37}, {'connected_gene': 'GC01P050732', 'score': 0.37}, {'connected_gene': 'PHBP12', 'score': 0.29}, {'connected_gene': 'FAF1', 'score': 0.08}]