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
ENST00000335251	[[128554086, 128554335], [128564675, 128565211], [128577790, 128577876], [128584535, 128584739], [128590190, 128590309], [128595278, 128595368], [128605563, 128605641], [128608832, 128609022], [128621164, 128621218], [128625382, 128625445], [128626745, 128626967], [128627641, 128628124], [128629725, 128629823], [128632067, 128632257], [128635090, 128635248], [128637479, 128647892]]	[[128554189, 128554335], [128564675, 128565211], [128577790, 128577876], [128584535, 128584739], [128590190, 128590309], [128595278, 128595368], [128605563, 128605641], [128608832, 128609022], [128621164, 128621218], [128625382, 128625445], [128626745, 128626967], [128627641, 128628124], [128629725, 128629823], [128632067, 128632257], [128635090, 128635248], [128637479, 128637591]]
ENST00000503626	[[128554111, 128554335], [128564675, 128565211], [128577790, 128577876], [128584535, 128584739], [128590190, 128590309], [128595278, 128595368], [128597059, 128597220], [128604958, 128605055], [128605563, 128605641], [128606596, 128609022], [128621164, 128621218], [128625382, 128625445], [128626745, 128626967], [128627641, 128628124], [128629725, 128629823], [128632067, 128632257], [128635090, 128635248], [128637479, 128637930]]	[[128554189, 128554335], [128564675, 128565211], [128577790, 128577876], [128584535, 128584739], [128590190, 128590309], [128595278, 128595368], [128597059, 128597105]]
ENST00000296461	[[128554119, 128554335], [128564675, 128565211], [128577790, 128577876], [128584535, 128584739], [128590190, 128590309], [128595278, 128595368], [128597059, 128597105]]	[[128554189, 128554335], [128564675, 128565211], [128577790, 128577876], [128584535, 128584739], [128590190, 128590309], [128595278, 128595368], [128597059, 128597105]]
ENST00000503952	[[128554120, 128554335], [128564675, 128565211], [128577790, 128577876], [128584535, 128584739], [128590190, 128590309], [128595278, 128595368], [128605563, 128605641], [128606596, 128606724], [128608895, 128609022], [128621164, 128621218], [128625382, 128625445], [128626745, 128626967], [128627641, 128628124], [128629725, 128629823], [128632067, 128632257], [128635090, 128635248], [128637479, 128637634]]	[[128554189, 128554335], [128564675, 128565211], [128577790, 128577876], [128584535, 128584739], [128590190, 128590309], [128595278, 128595368], [128605563, 128605641], [128606596, 128606645]]
ENST00000504491	[[128544425, 128544646], [128564675, 128565191]]	[[128544557, 128544646], [128564675, 128565191]]
ENST00000504276	[[128595308, 128595368], [128605563, 128605641], [128606596, 128607105]]	None
ENST00000506283	[[128608968, 128609022], [128621164, 128621218], [128626745, 128626927]]	[[128608968, 128609022], [128621164, 128621218], [128626745, 128626927]]
ENST00000512995	[[128620411, 128620529], [128621164, 128621218], [128625382, 128625445], [128626745, 128626967], [128627641, 128627698]]	None
ENST00000510766	[[128627958, 128628124], [128629725, 128629823], [128635090, 128635248], [128637479, 128637540]]	[[128627958, 128628124], [128629725, 128629823], [128635090, 128635106]]
NM_015693	[[128554086, 128554335], [128564675, 128565211], [128577790, 128577876], [128584535, 128584739], [128590190, 128590309], [128595278, 128595368], [128605563, 128605641], [128608832, 128609022], [128621164, 128621218], [128625382, 128625445], [128626745, 128626967], [128627641, 128628124], [128629725, 128629823], [128632067, 128632257], [128635090, 128635248], [128637479, 128637934]]	[[128554189, 128554335], [128564675, 128565211], [128577790, 128577876], [128584535, 128584739], [128590190, 128590309], [128595278, 128595368], [128605563, 128605641], [128608832, 128609022], [128621164, 128621218], [128625382, 128625445], [128626745, 128626967], [128627641, 128628124], [128629725, 128629823], [128632067, 128632257], [128635090, 128635248], [128637479, 128637591]]

Promoter

Chrom	Start	End	Description
chr4	128544091	128544132	CAGE_peak_2_at_INTU_5end
chr4	128554081	128554121	CAGE_peak_1_at_INTU_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr4	GH04I127698	127698406	127699359	0.98	[{'connected_gene': 'SLC25A31', 'score': 11.34}, {'connected_gene': 'INTU', 'score': 10.97}, {'connected_gene': 'LOC105377413', 'score': 0.2}]
chr4	GH04I127708	127708519	127710304	0.8	[{'connected_gene': 'SLC25A31', 'score': 11.17}, {'connected_gene': 'LOC105377413', 'score': 0.18}, {'connected_gene': 'INTU', 'score': 0.17}]
chr4	GH04I128220	128220079	128221771	0.8	[{'connected_gene': 'ABHD18', 'score': 4.49}, {'connected_gene': 'INTU', 'score': 3.89}, {'connected_gene': 'FOSL1P1', 'score': 0.2}, {'connected_gene': 'PGRMC2', 'score': 0.2}, {'connected_gene': 'LARP1B', 'score': 0.1}]
chr4	GH04I128059	128059904	128063201	2.05	[{'connected_gene': 'LARP1B', 'score': 550.77}, {'connected_gene': 'GC04M128059', 'score': 550.77}, {'connected_gene': 'HSPA4L', 'score': 5.81}, {'connected_gene': 'INTU', 'score': 5.57}, {'connected_gene': 'ABHD18', 'score': 4.82}, {'connected_gene': 'RPL15P8', 'score': 0.44}]
chr4	GH04I127632	127632201	127634172	1.9	[{'connected_gene': 'INTU', 'score': 569.08}, {'connected_gene': 'LOC105377413', 'score': 550.77}, {'connected_gene': 'SLC25A31', 'score': 10.72}, {'connected_gene': 'MFSD8', 'score': 10.01}]
chr4	GH04I127532	127532683	127534562	0.86	[{'connected_gene': 'INTU', 'score': 4.01}, {'connected_gene': 'GC04P127520', 'score': 0.39}, {'connected_gene': 'LOC105377412', 'score': 0.18}]
chr4	GH04I127605	127605031	127605735	0.63	[{'connected_gene': 'INTU', 'score': 8.95}, {'connected_gene': 'LOC105377412', 'score': 0.39}, {'connected_gene': 'GC04P127520', 'score': 0.17}]
chr4	GH04I127622	127622637	127624200	1.34	[{'connected_gene': 'INTU', 'score': 566.03}, {'connected_gene': 'LOC100507487', 'score': 11.38}, {'connected_gene': 'MFSD8', 'score': 9.69}, {'connected_gene': 'LOC105377413', 'score': 0.44}]
chr4	GH04I127781	127781090	127785346	2.25	[{'connected_gene': 'HSPA4L', 'score': 559.8}, {'connected_gene': 'SLC25A31', 'score': 10.24}, {'connected_gene': 'INTU', 'score': 10.15}, {'connected_gene': 'ABHD18', 'score': 4.91}, {'connected_gene': 'ENSG00000282855', 'score': 0.31}]
chr4	GH04I128159	128159099	128164868	0.95	[{'connected_gene': 'HSPA4L', 'score': 5.37}, {'connected_gene': 'INTU', 'score': 5.04}, {'connected_gene': 'PGRMC2', 'score': 4.57}, {'connected_gene': 'FOSL1P1', 'score': 0.44}, {'connected_gene': 'LARP1B', 'score': 0.15}]
chr4	GH04I127856	127856083	127857806	0.94	[{'connected_gene': 'PLK4', 'score': 11.27}, {'connected_gene': 'RNU6-583P', 'score': 11.21}, {'connected_gene': 'INTU', 'score': 7.46}, {'connected_gene': 'ABHD18', 'score': 3.98}, {'connected_gene': 'ENSG00000261668', 'score': 0.39}]
chr4	GH04I127634	127634306	127634475	0.2	[{'connected_gene': 'LOC105377413', 'score': 550.77}, {'connected_gene': 'SLC25A31', 'score': 10.72}, {'connected_gene': 'INTU', 'score': 0.39}]
chr4	GH04I128551	128551957	128554922	1.75	[{'connected_gene': 'LOC101927259', 'score': 556.0}, {'connected_gene': 'MFSD8', 'score': 55.14}, {'connected_gene': 'PGRMC2', 'score': 20.81}, {'connected_gene': 'RPL21P53', 'score': 10.75}, {'connected_gene': 'ABHD18', 'score': 10.66}, {'connected_gene': 'INTU', 'score': 10.04}, {'connected_gene': 'JADE1', 'score': 9.87}, {'connected_gene': 'C4orf33', 'score': 4.97}, {'connected_gene': 'GC04P128333', 'score': 0.07}]