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
ENST00000549578	[[110928901, 110929927], [110930800, 110931036], [110933816, 110934008], [110939853, 110939922]]	[[110929809, 110929927], [110930800, 110931036], [110933816, 110934008], [110939853, 110939856]]
ENST00000360579	[[110929327, 110929927], [110930800, 110931036], [110933816, 110934008], [110937339, 110937351], [110939853, 110939904]]	[[110929809, 110929927], [110930800, 110931036], [110933816, 110934008], [110937339, 110937351], [110939853, 110939856]]
ENST00000552130	[[110929428, 110929927], [110930800, 110931036], [110933816, 110934008], [110936624, 110936664], [110937261, 110937351]]	[[110929809, 110929927], [110930800, 110930946]]
ENST00000447578	[[110929429, 110929927], [110930800, 110931036], [110933816, 110934008], [110936624, 110936664], [110939853, 110939883]]	[[110929809, 110929927], [110930800, 110930946]]
ENST00000546588	[[110929495, 110929927], [110930800, 110931036], [110933816, 110934008], [110937339, 110937351], [110939221, 110939364], [110939853, 110939897]]	[[110929809, 110929927], [110930800, 110931036], [110933816, 110934008], [110937339, 110937351], [110939221, 110939308]]
ENST00000548539	[[110929535, 110929927], [110933816, 110934022]]	None
ENST00000549970	[[110929690, 110929927], [110930800, 110931036], [110933816, 110934008], [110937261, 110937351], [110939853, 110939916]]	[[110929809, 110929927], [110930800, 110930946]]
ENST00000548259	[[110930725, 110931036], [110933816, 110934008], [110939853, 110939913]]	None
ENST00000553128	[[110933850, 110934008], [110934627, 110934807], [110936624, 110936664], [110937339, 110937351], [110939853, 110939912]]	None
ENST00000551655	[[110934102, 110934807], [110939853, 110939914]]	None
ENST00000550267	[[110936600, 110937351], [110939853, 110939912]]	None
NM_001282150	[[110929327, 110929927], [110930800, 110931036], [110933816, 110934008], [110937339, 110937351], [110939221, 110939364], [110939853, 110939945]]	[[110929809, 110929927], [110930800, 110931036], [110933816, 110934008], [110937339, 110937351], [110939221, 110939308]]
NR_104101	[[110929327, 110929927], [110930800, 110931036], [110933816, 110934008], [110937261, 110937351], [110939853, 110939945]]	None
NR_104099	[[110929327, 110929927], [110930800, 110931036], [110933816, 110934008], [110936624, 110936664], [110937339, 110937351], [110939853, 110939945]]	None
NM_057180	[[110929327, 110929927], [110930800, 110931036], [110933816, 110934008], [110937339, 110937351], [110939853, 110939945]]	[[110929809, 110929927], [110930800, 110931036], [110933816, 110934008], [110937339, 110937351], [110939853, 110939856]]
NR_104100	[[110929327, 110929927], [110930800, 110931036], [110933816, 110934008], [110936624, 110936664], [110939853, 110939945]]	None
NM_016226	[[110929327, 110929927], [110930800, 110931036], [110933816, 110934008], [110939853, 110939945]]	[[110929809, 110929927], [110930800, 110931036], [110933816, 110934008], [110939853, 110939856]]
NM_001282151	[[110929327, 110929927], [110933816, 110934008], [110939853, 110939945]]	[[110929846, 110929927], [110933816, 110934008], [110939853, 110939856]]
NR_104102	[[110929327, 110929927], [110930800, 110931036], [110933816, 110933899], [110939853, 110939945]]	None

Promoter

Chrom	Start	End	Description
chr12	110937429	110937445	CAGE_peak_7_at_VPS29_5end
chr12	110939870	110939937	CAGE_peak_1_at_VPS29_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr12	GH12I110539	110539766	110540187	0.49	[{'connected_gene': 'HVCN1', 'score': 10.94}, {'connected_gene': 'TCTN1', 'score': 10.78}, {'connected_gene': 'VPS29', 'score': 0.28}, {'connected_gene': 'PPTC7', 'score': 0.26}]
chr12	GH12I110542	110542495	110547449	1.33	[{'connected_gene': 'HVCN1', 'score': 10.95}, {'connected_gene': 'TCTN1', 'score': 10.48}, {'connected_gene': 'FAM216A', 'score': 9.33}, {'connected_gene': 'PPTC7', 'score': 0.28}, {'connected_gene': 'VPS29', 'score': 0.26}]
chr12	GH12I110548	110548449	110549545	0.51	[{'connected_gene': 'HVCN1', 'score': 10.95}, {'connected_gene': 'TCTN1', 'score': 10.48}, {'connected_gene': 'PPTC7', 'score': 0.29}, {'connected_gene': 'VPS29', 'score': 0.25}]
chr12	GH12I110533	110533236	110533240	0.38	[{'connected_gene': 'TCTN1', 'score': 10.32}, {'connected_gene': 'VPS29', 'score': 0.29}, {'connected_gene': 'PPTC7', 'score': 0.23}]
chr12	GH12I110537	110534347	110534874	0.2	[{'connected_gene': 'TCTN1', 'score': 10.5}, {'connected_gene': 'VPS29', 'score': 0.29}, {'connected_gene': 'PPTC7', 'score': 0.25}]
chr12	GH12I110531	110531490	110532531	1	[{'connected_gene': 'TCTN1', 'score': 10.98}, {'connected_gene': 'VPS29', 'score': 0.31}, {'connected_gene': 'RAD9B', 'score': 0.29}, {'connected_gene': 'PPTC7', 'score': 0.23}]
chr12	GH12I110534	110533653	110534345	0.85	[{'connected_gene': 'TCTN1', 'score': 10.32}, {'connected_gene': 'FAM216A', 'score': 9.23}, {'connected_gene': 'VPS29', 'score': 0.29}, {'connected_gene': 'PPTC7', 'score': 0.25}]
chr12	GH12I110499	110499048	110503028	2.13	[{'connected_gene': 'VPS29', 'score': 550.77}, {'connected_gene': 'RAD9B', 'score': 550.77}, {'connected_gene': 'ENSG00000278993', 'score': 550.77}, {'connected_gene': 'IFT81', 'score': 51.74}, {'connected_gene': 'ARPC3', 'score': 23.57}, {'connected_gene': 'FAM216A', 'score': 23.52}, {'connected_gene': 'ANAPC7', 'score': 19.92}, {'connected_gene': 'GPN3', 'score': 11.53}, {'connected_gene': 'RNU4-32P', 'score': 10.98}, {'connected_gene': 'HSPA8P14', 'score': 10.97}, {'connected_gene': 'ANKRD13A', 'score': 10.95}, {'connected_gene': 'TCHP', 'score': 9.69}, {'connected_gene': 'GC12M110497', 'score': 0.77}, {'connected_gene': 'ENSG00000202335', 'score': 0.77}]
chr12	GH12I110567	110567783	110568386	0.2	[{'connected_gene': 'GLTP', 'score': 12.83}, {'connected_gene': 'GPN3', 'score': 9.12}, {'connected_gene': 'PPTC7', 'score': 0.37}, {'connected_gene': 'VPS29', 'score': 0.2}]
chr12	GH12I110535	110535715	110536435	0.2	[{'connected_gene': 'GPN3', 'score': 11.15}, {'connected_gene': 'TCTN1', 'score': 10.5}, {'connected_gene': 'VPS29', 'score': 0.29}, {'connected_gene': 'PPTC7', 'score': 0.25}]
chr12	GH12I110555	110555052	110556898	1.06	[{'connected_gene': 'GPN3', 'score': 35.63}, {'connected_gene': 'PPTC7', 'score': 13.07}, {'connected_gene': 'TCTN1', 'score': 11.48}, {'connected_gene': 'FAM216A', 'score': 9.16}, {'connected_gene': 'VPS29', 'score': 0.23}]
chr12	GH12I110512	110512401	110512645	0.85	[{'connected_gene': 'GPN3', 'score': 36.66}, {'connected_gene': 'RAD9B', 'score': 0.39}, {'connected_gene': 'VPS29', 'score': 0.39}, {'connected_gene': 'PPTC7', 'score': 0.19}]
chr12	GH12I110574	110574052	110580300	1.71	[{'connected_gene': 'FAM216A', 'score': 22.74}, {'connected_gene': 'GPN3', 'score': 20.2}, {'connected_gene': 'ARPC3', 'score': 18.49}, {'connected_gene': 'TCTN1', 'score': 10.75}, {'connected_gene': 'GLTP', 'score': 9.78}, {'connected_gene': 'PPTC7', 'score': 5.72}, {'connected_gene': 'ATP2A2', 'score': 4.76}, {'connected_gene': 'VPS29', 'score': 0.18}]
chr12	GH12I110560	110560794	110561289	0.31	[{'connected_gene': 'FAM216A', 'score': 10.23}, {'connected_gene': 'PPTC7', 'score': 0.34}, {'connected_gene': 'VPS29', 'score': 0.22}]
chr12	GH12I110549	110549640	110550352	0.2	[{'connected_gene': 'PPTC7', 'score': 13.06}, {'connected_gene': 'TCTN1', 'score': 11.47}, {'connected_gene': 'HVCN1', 'score': 10.95}, {'connected_gene': 'VPS29', 'score': 0.25}]
chr12	GH12I110552	110552416	110552585	0.76	[{'connected_gene': 'PPTC7', 'score': 13.06}, {'connected_gene': 'TCTN1', 'score': 11.47}, {'connected_gene': 'VPS29', 'score': 0.23}]
chr12	GH12I110553	110552156	110552305	0.64	[{'connected_gene': 'PPTC7', 'score': 13.06}, {'connected_gene': 'TCTN1', 'score': 11.47}, {'connected_gene': 'VPS29', 'score': 0.23}]
chr12	GH12I110550	110550390	110550776	0.2	[{'connected_gene': 'PPTC7', 'score': 13.06}, {'connected_gene': 'TCTN1', 'score': 11.47}, {'connected_gene': 'ARPC3', 'score': 5.22}, {'connected_gene': 'VPS29', 'score': 0.25}]
chr12	GH12I110536	110536526	110539515	1.24	[{'connected_gene': 'ARPC3', 'score': 23.64}, {'connected_gene': 'GLTP', 'score': 9.61}, {'connected_gene': 'GPN3', 'score': 9.27}, {'connected_gene': 'VPS29', 'score': 0.28}, {'connected_gene': 'PPTC7', 'score': 0.25}]
chr12	GH12I110561	110561402	110567709	1.25	[{'connected_gene': 'ARPC3', 'score': 12.98}, {'connected_gene': 'FAM216A', 'score': 12.18}, {'connected_gene': 'GLTP', 'score': 9.8}, {'connected_gene': 'PPTC7', 'score': 0.37}, {'connected_gene': 'VPS29', 'score': 0.21}]
chr12	GH12I110569	110569391	110570153	0.2	[{'connected_gene': 'ARPC3', 'score': 19.29}, {'connected_gene': 'FAM216A', 'score': 8.9}, {'connected_gene': 'PPTC7', 'score': 0.39}, {'connected_gene': 'VPS29', 'score': 0.2}]
chr12	GH12I110568	110568477	110569248	0.2	[{'connected_gene': 'ARPC3', 'score': 4.28}, {'connected_gene': 'PPTC7', 'score': 0.39}, {'connected_gene': 'VPS29', 'score': 0.2}]