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
ENST00000395925	[[42000547, 42006239], [42007193, 42007521], [42011935, 42012226], [42017156, 42017321], [42018197, 42018347], [42063066, 42063207], [42064862, 42064976], [42065797, 42066011], [42079636, 42079838], [42084982, 42085129], [42088089, 42088295], [42116350, 42116456], [42187824, 42188067], [42262728, 42262894], [42276569, 42276612]]	[[42003927, 42006239], [42007193, 42007521], [42011935, 42012226], [42017156, 42017321], [42018197, 42018347], [42063066, 42063207], [42064862, 42064976], [42065797, 42066011], [42079636, 42079838], [42084982, 42085129], [42088089, 42088295], [42116350, 42116456], [42187824, 42188067], [42262728, 42262852]]
ENST00000479210	[[42003679, 42006239], [42007193, 42007521], [42011935, 42012226], [42017156, 42017321], [42018197, 42018347], [42063066, 42063207], [42064862, 42064976], [42065797, 42066011], [42079636, 42079838], [42084982, 42085129], [42088089, 42088295], [42116350, 42116456], [42187824, 42188067], [42191951, 42192052]]	None
ENST00000448703	[[42088228, 42088295], [42116350, 42116456], [42187824, 42188067], [42262728, 42262894], [42267249, 42267320]]	[[42088228, 42088295], [42116350, 42116456], [42187824, 42188067], [42262728, 42262852]]
ENST00000464291	[[42012038, 42012226], [42017156, 42017521]]	None
ENST00000437480	[[42212089, 42212285], [42262728, 42262894], [42276569, 42276658]]	[[42212118, 42212285], [42262728, 42262852]]
ENST00000428534	[[42262398, 42262894], [42277382, 42277469]]	None
NM_000168	[[42000546, 42006239], [42007193, 42007521], [42011935, 42012226], [42017156, 42017321], [42018197, 42018347], [42063066, 42063207], [42064862, 42064976], [42065797, 42066011], [42079636, 42079838], [42084982, 42085129], [42088089, 42088295], [42116350, 42116456], [42187824, 42188067], [42262728, 42262894], [42276569, 42276618]]	[[42003927, 42006239], [42007193, 42007521], [42011935, 42012226], [42017156, 42017321], [42018197, 42018347], [42063066, 42063207], [42064862, 42064976], [42065797, 42066011], [42079636, 42079838], [42084982, 42085129], [42088089, 42088295], [42116350, 42116456], [42187824, 42188067], [42262728, 42262852]]

Promoter

Chrom	Start	End	Description
chr7	42192043	42192057	CAGE_peak_10_at_GLI3_5end
chr7	42192092	42192108	CAGE_peak_13_at_GLI3_5end
chr7	42276771	42276782	CAGE_peak_4_at_GLI3_5end
chr7	42276787	42276815	CAGE_peak_1_at_GLI3_5end
chr7	42276822	42276895	CAGE_peak_2_at_GLI3_5end
chr7	42276896	42276903	CAGE_peak_9_at_GLI3_5end
chr7	42276920	42276931	CAGE_peak_8_at_GLI3_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr7	GH07I042660	42660942	42662031	0.64	[{'connected_gene': 'GLI3', 'score': 4.48}, {'connected_gene': 'LOC105375251', 'score': 0.39}, {'connected_gene': 'LINC01448', 'score': 0.26}]
chr7	GH07I042492	42492569	42495929	1.22	[{'connected_gene': 'GLI3', 'score': 5.74}, {'connected_gene': 'LOC105375250', 'score': 0.77}, {'connected_gene': 'GC07P042379', 'score': 0.14}]
chr7	GH07I042273	42273092	42274148	0.57	[{'connected_gene': 'GLI3', 'score': 0.44}, {'connected_gene': 'LOC105375249', 'score': 0.21}]
chr7	GH07I042292	42292482	42293662	0.65	[{'connected_gene': 'GLI3', 'score': 11.08}, {'connected_gene': 'LOC105375249', 'score': 0.25}]
chr7	GH07I042274	42274202	42274351	0.49	[{'connected_gene': 'GLI3', 'score': 0.39}, {'connected_gene': 'LOC105375249', 'score': 0.21}]
chr7	GH07I041979	41979771	41980479	0.54	[{'connected_gene': 'GLI3', 'score': 9.98}, {'connected_gene': 'GC07P042012', 'score': 0.29}, {'connected_gene': 'LOC105375248', 'score': 0.25}]
chr7	GH07I041995	41995728	41997831	0.72	[{'connected_gene': 'GLI3', 'score': 9.67}, {'connected_gene': 'GC07P042012', 'score': 0.37}, {'connected_gene': 'LOC105375248', 'score': 0.21}]
chr7	GH07I042065	42065922	42066071	0.62	[{'connected_gene': 'GLI3', 'score': 9.81}, {'connected_gene': 'HMGN2P30', 'score': 0.25}, {'connected_gene': 'GC07P042012', 'score': 0.23}]
chr7	GH07I042014	42014742	42016127	0.56	[{'connected_gene': 'GLI3', 'score': 5.95}, {'connected_gene': 'GC07P042012', 'score': 0.77}, {'connected_gene': 'HMGN2P30', 'score': 0.15}]
chr7	GH07I042029	42029522	42029671	0.2	[{'connected_gene': 'GLI3', 'score': 9.42}, {'connected_gene': 'GC07P042012', 'score': 0.37}, {'connected_gene': 'HMGN2P30', 'score': 0.18}]
chr7	GH07I042062	42062732	42063022	0.4	[{'connected_gene': 'GLI3', 'score': 9.81}, {'connected_gene': 'GC07P042012', 'score': 0.23}, {'connected_gene': 'HMGN2P30', 'score': 0.23}]
chr7	GH07I042099	42099460	42100931	0.49	[{'connected_gene': 'GLI3', 'score': 10.72}, {'connected_gene': 'HMGN2P30', 'score': 0.39}, {'connected_gene': 'GC07P042012', 'score': 0.17}]
chr7	GH07I042095	42095955	42099284	0.91	[{'connected_gene': 'GLI3', 'score': 10.73}, {'connected_gene': 'HMGN2P30', 'score': 0.37}, {'connected_gene': 'GC07P042012', 'score': 0.17}]
chr7	GH07I042067	42067894	42070932	0.74	[{'connected_gene': 'GLI3', 'score': 10.2}, {'connected_gene': 'HMGN2P30', 'score': 0.26}, {'connected_gene': 'GC07P042012', 'score': 0.22}]
chr7	GH07I042040	42040170	42040761	0.2	[{'connected_gene': 'GLI3', 'score': 5.06}, {'connected_gene': 'GC07P042012', 'score': 0.31}, {'connected_gene': 'HMGN2P30', 'score': 0.19}]
chr7	GH07I042146	42146003	42147909	0.4	[{'connected_gene': 'GLI3', 'score': 9.64}, {'connected_gene': 'GC07P042154', 'score': 0.44}, {'connected_gene': 'GC07P042113', 'score': 0.29}]
chr7	GH07I042196	42196907	42199727	0.63	[{'connected_gene': 'GLI3', 'score': 11.57}, {'connected_gene': 'GC07P042154', 'score': 0.25}]
chr7	GH07I042170	42170318	42170753	0.31	[{'connected_gene': 'GLI3', 'score': 10.5}, {'connected_gene': 'GC07P042154', 'score': 0.37}]
chr7	GH07I042244	42244982	42245131	0.46	[{'connected_gene': 'GLI3', 'score': 0.37}, {'connected_gene': 'GC07P042154', 'score': 0.16}]
chr7	GH07I042247	42247171	42247874	0.2	[{'connected_gene': 'GLI3', 'score': 0.37}, {'connected_gene': 'GC07P042154', 'score': 0.16}]
chr7	GH07I042174	42174113	42175251	0.2	[{'connected_gene': 'GLI3', 'score': 11.05}, {'connected_gene': 'GC07P042154', 'score': 0.34}]
chr7	GH07I042212	42212322	42214961	1.29	[{'connected_gene': 'GLI3', 'score': 12.01}, {'connected_gene': 'GC07P042154', 'score': 0.21}]
chr7	GH07I042226	42226704	42229228	1.44	[{'connected_gene': 'GLI3', 'score': 11.5}, {'connected_gene': 'GC07P042154', 'score': 0.19}]
chr7	GH07I042192	42192801	42193600	0.95	[{'connected_gene': 'GLI3', 'score': 11.72}, {'connected_gene': 'GC07P042154', 'score': 0.26}]
chr7	GH07I042158	42158396	42159558	0.31	[{'connected_gene': 'GLI3', 'score': 10.26}, {'connected_gene': 'GC07P042154', 'score': 0.44}]
chr7	GH07I042213	42212242	42212274	0.2	[{'connected_gene': 'GLI3', 'score': 11.65}, {'connected_gene': 'GC07P042154', 'score': 0.22}]
chr7	GH07I042263	42263102	42263251	0.38	[{'connected_gene': 'GLI3', 'score': 550.77}, {'connected_gene': 'GC07P042154', 'score': 0.14}]
chr7	GH07I042231	42231993	42239586	2.79	[{'connected_gene': 'GLI3', 'score': 563.86}, {'connected_gene': 'GC07P042154', 'score': 0.18}]
chr7	GH07I042171	42170822	42170971	0.31	[{'connected_gene': 'GLI3', 'score': 10.5}, {'connected_gene': 'GC07P042154', 'score': 0.37}]
chr7	GH07I042160	42160866	42162873	0.52	[{'connected_gene': 'GLI3', 'score': 10.26}, {'connected_gene': 'GC07P042154', 'score': 0.44}]
chr7	GH07I042216	42216952	42218275	0.51	[{'connected_gene': 'GLI3', 'score': 12.03}, {'connected_gene': 'GC07P042154', 'score': 0.21}]
chr7	GH07I042220	42220901	42224917	0.57	[{'connected_gene': 'GLI3', 'score': 5.7}, {'connected_gene': 'GC07P042154', 'score': 0.2}]
chr7	GH07I042193	42193801	42194673	0.51	[{'connected_gene': 'GLI3', 'score': 10.99}, {'connected_gene': 'GC07P042154', 'score': 0.26}]
chr7	GH07I042156	42155822	42156904	0.67	[{'connected_gene': 'GLI3', 'score': 10.26}, {'connected_gene': 'GC07P042154', 'score': 0.77}]
chr7	GH07I042218	42218421	42220328	0.73	[{'connected_gene': 'GLI3', 'score': 7.86}, {'connected_gene': 'GC07P042154', 'score': 0.2}]
chr7	GH07I043112	43112301	43114040	1.55	[{'connected_gene': 'LOC105375254', 'score': 562.96}, {'connected_gene': 'HECW1', 'score': 550.77}, {'connected_gene': 'AEBP1', 'score': 14.67}, {'connected_gene': 'GLI3', 'score': 12.45}, {'connected_gene': 'ENSG00000228434', 'score': 12.35}, {'connected_gene': 'SPDYE1', 'score': 12.24}, {'connected_gene': 'POLM', 'score': 10.23}]
chr7	GH07I042315	42315201	42316072	0.6	[{'connected_gene': 'LOC105375249', 'score': 0.34}, {'connected_gene': 'GLI3', 'score': 0.23}]
chr7	GH07I041967	41967283	41967432	0.43	[{'connected_gene': 'LOC105375248', 'score': 0.29}, {'connected_gene': 'GC07P042012', 'score': 0.26}, {'connected_gene': 'GLI3', 'score': 0.06}]
chr7	GH07I042107	42107169	42108271	1.01	[{'connected_gene': 'HMGN2P30', 'score': 0.44}, {'connected_gene': 'GC07P042012', 'score': 0.15}, {'connected_gene': 'GLI3', 'score': 0.1}]
chr7	GH07I042105	42105697	42106699	0.64	[{'connected_gene': 'HMGN2P30', 'score': 0.44}, {'connected_gene': 'GC07P042012', 'score': 0.16}, {'connected_gene': 'GLI3', 'score': 0.1}]
chr7	GH07I042071	42071942	42072211	0.38	[{'connected_gene': 'HMGN2P30', 'score': 0.26}, {'connected_gene': 'GC07P042012', 'score': 0.22}, {'connected_gene': 'GLI3', 'score': 0.08}]
chr7	GH07I042103	42103662	42103811	0.31	[{'connected_gene': 'HMGN2P30', 'score': 0.44}, {'connected_gene': 'GC07P042012', 'score': 0.16}, {'connected_gene': 'GLI3', 'score': 0.1}]
chr7	GH07I042080	42080600	42081525	0.59	[{'connected_gene': 'HMGN2P30', 'score': 0.29}, {'connected_gene': 'GC07P042012', 'score': 0.2}, {'connected_gene': 'GLI3', 'score': 0.09}]
chr7	GH07I042073	42073373	42073648	0.4	[{'connected_gene': 'HMGN2P30', 'score': 0.28}, {'connected_gene': 'GC07P042012', 'score': 0.21}, {'connected_gene': 'GLI3', 'score': 0.08}]
chr7	GH07I042090	42090942	42092607	0.83	[{'connected_gene': 'HMGN2P30', 'score': 0.34}, {'connected_gene': 'GC07P042012', 'score': 0.18}, {'connected_gene': 'GLI3', 'score': 0.09}]
chr7	GH07I042078	42078486	42078661	0.5	[{'connected_gene': 'HMGN2P30', 'score': 0.29}, {'connected_gene': 'GC07P042012', 'score': 0.2}, {'connected_gene': 'GLI3', 'score': 0.09}]
chr7	GH07I042138	42138722	42138871	0.43	[{'connected_gene': 'GC07P042154', 'score': 0.39}, {'connected_gene': 'GC07P042113', 'score': 0.31}, {'connected_gene': 'GLI3', 'score': 0.13}]
chr7	GH07I042154	42154166	42155197	0.64	[{'connected_gene': 'GC07P042154', 'score': 550.77}, {'connected_gene': 'GLI3', 'score': 0.14}]
chr7	GH07I042150	42150408	42154039	1.86	[{'connected_gene': 'GC07P042154', 'score': 550.77}, {'connected_gene': 'GC07P042113', 'score': 0.28}, {'connected_gene': 'GLI3', 'score': 0.14}]
chr7	GH07I042155	42155662	42155811	0.31	[{'connected_gene': 'GC07P042154', 'score': 0.77}, {'connected_gene': 'GLI3', 'score': 0.14}]
chr7	GH07I042139	42138882	42139031	0.38	[{'connected_gene': 'GC07P042154', 'score': 0.39}, {'connected_gene': 'GC07P042113', 'score': 0.31}, {'connected_gene': 'GLI3', 'score': 0.13}]
chr7	GH07I042143	42143254	42145329	0.74	[{'connected_gene': 'GC07P042154', 'score': 0.44}, {'connected_gene': 'GC07P042113', 'score': 0.29}, {'connected_gene': 'GLI3', 'score': 0.13}]
chr7	GH07I042010	42010684	42011334	0.2	[{'connected_gene': 'GC07P042012', 'score': 550.77}, {'connected_gene': 'LOC105375248', 'score': 0.18}, {'connected_gene': 'GLI3', 'score': 0.07}]
chr7	GH07I041990	41990557	41992421	0.78	[{'connected_gene': 'GC07P042012', 'score': 0.34}, {'connected_gene': 'LOC105375248', 'score': 0.22}, {'connected_gene': 'GLI3', 'score': 0.06}]
chr7	GH07I041978	41977502	41977651	0.43	[{'connected_gene': 'GC07P042012', 'score': 0.29}, {'connected_gene': 'LOC105375248', 'score': 0.26}, {'connected_gene': 'GLI3', 'score': 0.06}]
chr7	GH07I041992	41992957	41993940	0.52	[{'connected_gene': 'GC07P042012', 'score': 0.37}, {'connected_gene': 'LOC105375248', 'score': 0.22}, {'connected_gene': 'GLI3', 'score': 0.06}]
chr7	GH07I041977	41977182	41977471	0.54	[{'connected_gene': 'GC07P042012', 'score': 0.29}, {'connected_gene': 'LOC105375248', 'score': 0.26}, {'connected_gene': 'GLI3', 'score': 0.06}]
chr7	GH07I042039	42039825	42039951	0.2	[{'connected_gene': 'GC07P042012', 'score': 0.31}, {'connected_gene': 'HMGN2P30', 'score': 0.19}, {'connected_gene': 'GLI3', 'score': 0.07}]