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
ENST00000431530	[[29598747, 29601040], [29608021, 29608262], [29674909, 29675107], [29855840, 29856002], [29898749, 29898848], [29933398, 29933610], [30014119, 30014186], [30054286, 30054501], [30062036, 30062142], [30066782, 30066856], [30071374, 30071473], [30072554, 30072674], [30075233, 30075331], [30077129, 30077892]]	[[29598805, 29601040], [29608021, 29608262], [29674909, 29675107], [29855840, 29856002], [29898749, 29898848], [29933398, 29933610], [30014119, 30014186], [30054286, 30054501], [30062036, 30062142], [30066782, 30066856], [30071374, 30071473], [30072554, 30072674], [30075233, 30075331], [30077129, 30077343]]
ENST00000255289	[[29646120, 29646308], [29674909, 29675107], [29855840, 29855907]]	None
ENST00000380808	[[30002763, 30003033], [30014119, 30014186], [30054286, 30054501], [30062036, 30062142], [30066782, 30066856], [30071374, 30071473], [30072554, 30072674], [30075233, 30075331], [30077129, 30077873]]	[[30002979, 30003033], [30014119, 30014186], [30054286, 30054501], [30062036, 30062142], [30066782, 30066856], [30071374, 30071473], [30072554, 30072674], [30075233, 30075331], [30077129, 30077343]]
ENST00000542829	[[30002845, 30003033], [30054286, 30054501], [30062036, 30062142], [30066782, 30066856], [30071374, 30071473], [30072554, 30072674], [30075233, 30075331], [30077129, 30077394]]	[[30054435, 30054501], [30062036, 30062142], [30066782, 30066856], [30071374, 30071473], [30072554, 30072674], [30075233, 30075331], [30077129, 30077343]]
ENST00000400542	[[30070483, 30070587], [30071374, 30071473], [30072554, 30072674], [30075233, 30075331], [30077129, 30077277]]	None
ENST00000467990	[[30070552, 30070587], [30071374, 30071926]]	None
NM_001033602	[[29598747, 29601040], [29608021, 29608262], [29674909, 29675107], [29855840, 29856002], [29898749, 29898848], [29933398, 29933610], [30014119, 30014186], [30054286, 30054501], [30062036, 30062142], [30066782, 30066856], [30071374, 30071473], [30072554, 30072674], [30075233, 30075331], [30077129, 30080084]]	[[29598805, 29601040], [29608021, 29608262], [29674909, 29675107], [29855840, 29856002], [29898749, 29898848], [29933398, 29933610], [30014119, 30014186], [30054286, 30054501], [30062036, 30062142], [30066782, 30066856], [30071374, 30071473], [30072554, 30072674], [30075233, 30075331], [30077129, 30077343]]
NM_015233	[[30002776, 30003033], [30014119, 30014186], [30054286, 30054501], [30062036, 30062142], [30066782, 30066856], [30071374, 30071473], [30072554, 30072674], [30075233, 30075331], [30077129, 30080084]]	[[30002979, 30003033], [30014119, 30014186], [30054286, 30054501], [30062036, 30062142], [30066782, 30066856], [30071374, 30071473], [30072554, 30072674], [30075233, 30075331], [30077129, 30077343]]

Promoter

Chrom	Start	End	Description
chr13	29646198	29646211	CAGE_peak_5_at_MTUS2_5end
chr13	30002683	30002694	CAGE_peak_11_at_MTUS2_5end
chr13	30002741	30002776	CAGE_peak_1_at_MTUS2_5end
chr13	30002788	30002807	CAGE_peak_3_at_MTUS2_5end
chr13	30002828	30002835	CAGE_peak_8_at_MTUS2_5end
chr13	30002856	30002862	CAGE_peak_10_at_MTUS2_5end
chr13	30002890	30002905	CAGE_peak_4_at_MTUS2_5end
chr13	30002908	30002914	CAGE_peak_6_at_MTUS2_5end
chr13	30002915	30002930	CAGE_peak_2_at_MTUS2_5end
chr13	30002935	30002940	CAGE_peak_13_at_MTUS2_5end
chr13	30053711	30053718	CAGE_peak_14_at_MTUS2_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr13	GH13I028796	28796401	28797048	0.83	[{'connected_gene': 'CYP51A1P2', 'score': 11.39}, {'connected_gene': 'SLC46A3', 'score': 11.38}, {'connected_gene': 'POMP', 'score': 10.55}, {'connected_gene': 'POM121L13P', 'score': 0.37}, {'connected_gene': 'MTUS2', 'score': 0.34}]
chr13	GH13I029702	29702560	29704033	0.79	[{'connected_gene': 'SLC7A1', 'score': 14.98}, {'connected_gene': 'MTUS2-AS1', 'score': 11.29}, {'connected_gene': 'MTUS2', 'score': 11.24}, {'connected_gene': 'LOC105370139', 'score': 0.44}, {'connected_gene': 'UBL3', 'score': 0.11}]
chr13	GH13I029562	29562330	29564511	0.54	[{'connected_gene': 'SLC7A1', 'score': 12.25}, {'connected_gene': 'MTUS2-AS1', 'score': 10.52}, {'connected_gene': 'MTUS2', 'score': 10.35}, {'connected_gene': 'PIR32808', 'score': 0.44}, {'connected_gene': 'GC13M029513', 'score': 0.23}, {'connected_gene': 'PIR35309', 'score': 0.23}]
chr13	GH13I029565	29565124	29566131	0.38	[{'connected_gene': 'SLC7A1', 'score': 13.06}, {'connected_gene': 'MTUS2-AS1', 'score': 10.96}, {'connected_gene': 'MTUS2', 'score': 10.8}, {'connected_gene': 'PIR32808', 'score': 0.77}, {'connected_gene': 'GC13M029513', 'score': 0.23}, {'connected_gene': 'PIR35309', 'score': 0.23}]
chr13	GH13I029560	29560991	29562247	0.59	[{'connected_gene': 'SLC7A1', 'score': 12.25}, {'connected_gene': 'MTUS2-AS1', 'score': 10.52}, {'connected_gene': 'MTUS2', 'score': 10.35}, {'connected_gene': 'PIR32808', 'score': 0.44}, {'connected_gene': 'GC13M029513', 'score': 0.25}, {'connected_gene': 'PIR35309', 'score': 0.25}]
chr13	GH13I028749	28749674	28755953	1.37	[{'connected_gene': 'SLC46A3', 'score': 23.41}, {'connected_gene': 'CYP51A1P2', 'score': 12.05}, {'connected_gene': 'RNU6-53P', 'score': 10.99}, {'connected_gene': 'URAD', 'score': 5.51}, {'connected_gene': 'MTUS2', 'score': 2.13}, {'connected_gene': 'ENSG00000277227', 'score': 0.31}]
chr13	GH13I028794	28794083	28795329	0.54	[{'connected_gene': 'SLC46A3', 'score': 17.77}, {'connected_gene': 'POMP', 'score': 10.64}, {'connected_gene': 'POM121L13P', 'score': 0.37}, {'connected_gene': 'MTUS2', 'score': 0.31}]
chr13	GH13I029471	29471510	29472000	0.58	[{'connected_gene': 'MTUS2', 'score': 11.66}, {'connected_gene': 'SLC7A1', 'score': 10.1}, {'connected_gene': 'MTUS2-AS1', 'score': 0.37}, {'connected_gene': 'PIR44178', 'score': 0.18}]
chr13	GH13I028820	28819096	28819449	0.45	[{'connected_gene': 'MTUS2', 'score': 558.25}, {'connected_gene': 'POM121L13P', 'score': 0.26}]
chr13	GH13I028819	28819600	28820401	0.93	[{'connected_gene': 'MTUS2', 'score': 550.77}, {'connected_gene': 'POM121L13P', 'score': 0.26}]
chr13	GH13I029427	29427947	29429482	1.68	[{'connected_gene': 'MTUS2', 'score': 550.03}, {'connected_gene': 'PIR44178', 'score': 0.29}, {'connected_gene': 'MTUS2-AS1', 'score': 0.21}]
chr13	GH13I029402	29402127	29403093	0.88	[{'connected_gene': 'MTUS2', 'score': 9.64}, {'connected_gene': 'ENSG00000270680', 'score': 9.1}, {'connected_gene': 'PIR44178', 'score': 0.44}, {'connected_gene': 'MTUS2-AS1', 'score': 0.17}]
chr13	GH13I028886	28886641	28886979	0.33	[{'connected_gene': 'MTUS2', 'score': 0.2}, {'connected_gene': 'MTUS2-AS2', 'score': 0.05}]
chr13	GH13I029124	29124696	29126633	0.56	[{'connected_gene': 'MTUS2', 'score': 16.57}, {'connected_gene': 'MTUS2-AS2', 'score': 0.13}]
chr13	GH13I029064	29064398	29064416	0.24	[{'connected_gene': 'MTUS2', 'score': 6.49}, {'connected_gene': 'MTUS2-AS2', 'score': 0.09}]
chr13	GH13I029019	29019879	29020060	0.34	[{'connected_gene': 'MTUS2', 'score': 0.08}, {'connected_gene': 'MTUS2-AS2', 'score': 0.07}]
chr13	GH13I029479	29479430	29481350	0.38	[{'connected_gene': 'LINC01058', 'score': 11.44}, {'connected_gene': 'MTUS2-AS1', 'score': 0.44}, {'connected_gene': 'PIR44178', 'score': 0.17}, {'connected_gene': 'MTUS2', 'score': 0.03}]
chr13	GH13I029519	29519631	29525470	0.76	[{'connected_gene': 'MTUS2-AS1', 'score': 12.22}, {'connected_gene': 'MTUS2', 'score': 11.96}, {'connected_gene': 'SLC7A1', 'score': 11.31}, {'connected_gene': 'EIF4A1P7', 'score': 5.01}, {'connected_gene': 'GC13M029513', 'score': 0.39}, {'connected_gene': 'PIR35309', 'score': 0.39}, {'connected_gene': 'PIR32808', 'score': 0.25}]
chr13	GH13I029577	29577284	29577433	0.4	[{'connected_gene': 'MTUS2-AS1', 'score': 10.53}, {'connected_gene': 'MTUS2', 'score': 10.39}, {'connected_gene': 'GC13P029586', 'score': 0.44}, {'connected_gene': 'PIR32808', 'score': 0.44}, {'connected_gene': 'SLC7A1', 'score': 0.37}]
chr13	GH13I029580	29580912	29584294	1.05	[{'connected_gene': 'MTUS2-AS1', 'score': 10.52}, {'connected_gene': 'MTUS2', 'score': 10.39}, {'connected_gene': 'UBL3', 'score': 9.17}, {'connected_gene': 'GC13P029586', 'score': 0.77}, {'connected_gene': 'SLC7A1', 'score': 0.39}, {'connected_gene': 'PIR32808', 'score': 0.39}]
chr13	GH13I029454	29454708	29458319	1.27	[{'connected_gene': 'MTUS2-AS1', 'score': 11.4}, {'connected_gene': 'MTUS2', 'score': 11.14}, {'connected_gene': 'PIR44178', 'score': 0.21}]
chr13	GH13I029444	29444981	29445733	0.2	[{'connected_gene': 'MTUS2-AS1', 'score': 11.38}, {'connected_gene': 'MTUS2', 'score': 11.15}, {'connected_gene': 'PIR44178', 'score': 0.23}]
chr13	GH13I029495	29495384	29497933	0.87	[{'connected_gene': 'MTUS2-AS1', 'score': 0.44}, {'connected_gene': 'PIR48904', 'score': 0.39}, {'connected_gene': 'MTUS2', 'score': 0.03}]
chr13	GH13I029439	29439636	29444245	0.56	[{'connected_gene': 'MTUS2-AS1', 'score': 11.36}, {'connected_gene': 'MTUS2', 'score': 11.14}, {'connected_gene': 'PIR44178', 'score': 0.25}]
chr13	GH13I029461	29461766	29466803	0.49	[{'connected_gene': 'MTUS2-AS1', 'score': 11.73}, {'connected_gene': 'MTUS2', 'score': 11.45}, {'connected_gene': 'PIR44178', 'score': 0.19}]
chr13	GH13I029498	29498084	29498244	0.2	[{'connected_gene': 'MTUS2-AS1', 'score': 0.44}, {'connected_gene': 'PIR48904', 'score': 0.39}, {'connected_gene': 'MTUS2', 'score': 0.03}]
chr13	GH13I029447	29447916	29448928	0.31	[{'connected_gene': 'MTUS2-AS1', 'score': 11.3}, {'connected_gene': 'MTUS2', 'score': 11.07}, {'connected_gene': 'PIR44178', 'score': 0.23}]
chr13	GH13I029081	29081144	29081293	0.46	[{'connected_gene': 'MTUS2-AS2', 'score': 0.1}, {'connected_gene': 'MTUS2', 'score': 0.07}]
chr13	GH13I029140	29140364	29140513	0.31	[{'connected_gene': 'MTUS2-AS2', 'score': 10.16}, {'connected_gene': 'MTUS2', 'score': 0.05}]
chr13	GH13I029227	29227724	29227893	0.2	[{'connected_gene': 'MTUS2-AS2', 'score': 0.34}, {'connected_gene': 'MTUS2', 'score': 0.05}]
chr13	GH13I029566	29566368	29570923	0.54	[{'connected_gene': 'PIR32808', 'score': 550.77}, {'connected_gene': 'SLC7A1', 'score': 13.08}, {'connected_gene': 'MTUS2-AS1', 'score': 10.96}, {'connected_gene': 'MTUS2', 'score': 10.8}, {'connected_gene': 'GC13M029513', 'score': 0.22}, {'connected_gene': 'PIR35309', 'score': 0.22}]
chr13	GH13I029369	29369184	29369273	0.54	[{'connected_gene': 'ENSG00000270680', 'score': 15.72}, {'connected_gene': 'PIR44178', 'score': 0.34}, {'connected_gene': 'MTUS2', 'score': 0.03}]
chr13	GH13I029363	29363124	29363253	0.64	[{'connected_gene': 'ENSG00000270680', 'score': 0.34}, {'connected_gene': 'PIR44178', 'score': 0.29}, {'connected_gene': 'MTUS2', 'score': 0.03}]
chr13	GH13I029432	29432166	29433279	0.4	[{'connected_gene': 'PIR44178', 'score': 0.28}, {'connected_gene': 'MTUS2-AS1', 'score': 0.22}, {'connected_gene': 'MTUS2', 'score': 0.03}]
chr13	GH13I029434	29434117	29437742	1.21	[{'connected_gene': 'PIR44178', 'score': 0.26}, {'connected_gene': 'MTUS2-AS1', 'score': 0.23}, {'connected_gene': 'MTUS2', 'score': 0.03}]
chr13	GH13I029438	29438117	29439513	0.51	[{'connected_gene': 'PIR44178', 'score': 0.26}, {'connected_gene': 'MTUS2-AS1', 'score': 0.23}, {'connected_gene': 'MTUS2', 'score': 0.03}]