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

Promoter

Chrom	Start	End	Description
chr12	112846951	112846972	CAGE_peak_5_at_RPL6_5end
chr12	112847048	112847095	CAGE_peak_2_at_RPL6_5end
chr12	112847108	112847132	CAGE_peak_6_at_RPL6_5end
chr12	112847328	112847339	CAGE_peak_4_at_RPL6_5end
chr12	112847354	112847457	CAGE_peak_1_at_RPL6_5end
chr12	112856623	112856661	CAGE_peak_3_at_RPL6_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr12	GH12I113127	113127566	113128817	0.87	[{'connected_gene': 'RBM19', 'score': 43.76}, {'connected_gene': 'DDX54', 'score': 18.36}, {'connected_gene': 'RPL6', 'score': 13.71}, {'connected_gene': 'RASAL1', 'score': 12.13}, {'connected_gene': 'SLC8B1', 'score': 12.05}, {'connected_gene': 'GC12P113070', 'score': 0.22}]
chr12	GH12I112011	112011401	112015726	2.33	[{'connected_gene': 'TMEM116', 'score': 577.97}, {'connected_gene': 'ERP29', 'score': 550.77}, {'connected_gene': 'RPL6', 'score': 20.27}, {'connected_gene': 'HSPA8P14', 'score': 19.78}, {'connected_gene': 'MAPKAPK5', 'score': 14.65}, {'connected_gene': 'HECTD4', 'score': 12.1}, {'connected_gene': 'ADAM1A', 'score': 11.52}, {'connected_gene': 'NAA25', 'score': 11.04}, {'connected_gene': 'TRAFD1', 'score': 10.07}, {'connected_gene': 'RPS2P41', 'score': 9.87}, {'connected_gene': 'GC12P112008', 'score': 0.77}, {'connected_gene': 'ENSG00000274227', 'score': 0.44}]
chr12	GH12I113183	113183796	113187512	2.09	[{'connected_gene': 'RITA1', 'score': 563.38}, {'connected_gene': 'DDX54', 'score': 560.78}, {'connected_gene': 'HECTD4', 'score': 26.35}, {'connected_gene': 'RBM19', 'score': 23.1}, {'connected_gene': 'RPL6', 'score': 13.7}, {'connected_gene': 'SLC8B1', 'score': 12.07}, {'connected_gene': 'CFAP73', 'score': 11.1}, {'connected_gene': 'DYNLL1P4', 'score': 10.28}, {'connected_gene': 'GC12M113186', 'score': 0.77}, {'connected_gene': 'ENSG00000257286', 'score': 0.44}]
chr12	GH12I113333	113333363	113335765	1.98	[{'connected_gene': 'SLC8B1', 'score': 561.95}, {'connected_gene': 'RBM19', 'score': 34.55}, {'connected_gene': 'PLBD2', 'score': 12.05}, {'connected_gene': 'RPL6', 'score': 10.12}, {'connected_gene': 'GC12M113308', 'score': 0.37}]
chr12	GH12I112407	112407240	112410226	2.28	[{'connected_gene': 'RPL6', 'score': 572.02}, {'connected_gene': 'ADAM1A', 'score': 30.79}, {'connected_gene': 'MAPKAPK5', 'score': 25.9}, {'connected_gene': 'SLC8B1', 'score': 20.09}, {'connected_gene': 'NAA25', 'score': 13.64}, {'connected_gene': 'RPS2P41', 'score': 9.78}, {'connected_gene': 'TMEM116', 'score': 5.17}, {'connected_gene': 'PTPN11', 'score': 0.44}, {'connected_gene': 'GC12M112409', 'score': 0.39}, {'connected_gene': 'HECTD4', 'score': 0.31}]
chr12	GH12I112417	112417969	112420329	2.08	[{'connected_gene': 'RPL6', 'score': 550.77}, {'connected_gene': 'PTPN11', 'score': 550.77}, {'connected_gene': 'ADAM1A', 'score': 21.58}, {'connected_gene': 'TMEM116', 'score': 5.22}, {'connected_gene': 'GC12M112409', 'score': 0.77}]
chr12	GH12I112413	112413594	112415232	0.73	[{'connected_gene': 'RPL6', 'score': 0.77}, {'connected_gene': 'PTPN11', 'score': 0.77}, {'connected_gene': 'GC12M112409', 'score': 0.44}, {'connected_gene': 'HECTD4', 'score': 0.29}]
chr12	GH12I112411	112411637	112411786	0.62	[{'connected_gene': 'RPL6', 'score': 0.44}, {'connected_gene': 'GC12M112409', 'score': 0.44}, {'connected_gene': 'PTPN11', 'score': 0.44}, {'connected_gene': 'HECTD4', 'score': 0.31}]
chr12	GH12I112412	112411401	112411600	0.6	[{'connected_gene': 'RPL6', 'score': 0.44}, {'connected_gene': 'GC12M112409', 'score': 0.44}, {'connected_gene': 'PTPN11', 'score': 0.44}, {'connected_gene': 'HECTD4', 'score': 0.31}]
chr12	GH12I111840	111840225	111843947	2.1	[{'connected_gene': 'MAPKAPK5-AS1', 'score': 550.77}, {'connected_gene': 'MAPKAPK5', 'score': 550.77}, {'connected_gene': 'GC12P111844', 'score': 550.77}, {'connected_gene': 'HECTD4', 'score': 22.14}, {'connected_gene': 'ATXN2', 'score': 16.43}, {'connected_gene': 'ALDH2', 'score': 13.85}, {'connected_gene': 'TRAFD1', 'score': 12.92}, {'connected_gene': 'TMEM116', 'score': 12.41}, {'connected_gene': 'RPL6', 'score': 11.86}, {'connected_gene': 'ADAM1A', 'score': 11.61}, {'connected_gene': 'HSPA8P14', 'score': 10.55}, {'connected_gene': 'RPS2P41', 'score': 10.03}, {'connected_gene': 'GC12P111836', 'score': 0.44}]
chr12	GH12I111684	111684433	111687226	2.08	[{'connected_gene': 'BRAP', 'score': 550.77}, {'connected_gene': 'ACAD10', 'score': 550.77}, {'connected_gene': 'ALDH2', 'score': 14.61}, {'connected_gene': 'TRAFD1', 'score': 12.9}, {'connected_gene': 'RPL6', 'score': 11.85}, {'connected_gene': 'HSPA8P14', 'score': 10.57}, {'connected_gene': 'RPS2P41', 'score': 9.84}, {'connected_gene': 'PCNPP1', 'score': 0.37}]
chr12	GH12I113356	113356590	113360621	2.24	[{'connected_gene': 'PLBD2', 'score': 579.24}, {'connected_gene': 'SLC8B1', 'score': 558.54}, {'connected_gene': 'RBM19', 'score': 26.3}, {'connected_gene': 'SDSL', 'score': 20.86}, {'connected_gene': 'RITA1', 'score': 10.66}, {'connected_gene': 'DDX54', 'score': 10.66}, {'connected_gene': 'ENSG00000201208', 'score': 10.65}, {'connected_gene': 'RPL6', 'score': 10.13}, {'connected_gene': 'SDS', 'score': 1.43}, {'connected_gene': 'LOC105369989', 'score': 0.77}]
chr12	GH12I113415	113415696	113416871	1.06	[{'connected_gene': 'SDSL', 'score': 20.24}, {'connected_gene': 'RBM19', 'score': 18.45}, {'connected_gene': 'RPL6', 'score': 10.12}, {'connected_gene': 'SDS', 'score': 0.39}, {'connected_gene': 'LOC105369989', 'score': 0.22}]

Transcript ID	Transcript exon region	Coding exon region
ENST00000551291	[[112844669, 112844694], [112846043, 112846142], [112846223, 112846460], [112848123, 112848209], [112849104, 112849246], [112856531, 112856642]]	[[112844669, 112844694], [112846043, 112846142], [112846223, 112846460]]
ENST00000553205	[[112842993, 112843841], [112844097, 112844148]]	None
ENST00000202773	[[112843002, 112843180], [112843656, 112843841], [112844097, 112844146], [112844550, 112844694], [112846043, 112846142], [112846223, 112846460], [112847390, 112847445]]	[[112843027, 112843180], [112843656, 112843841], [112844097, 112844146], [112844550, 112844694], [112846043, 112846142], [112846223, 112846460]]
ENST00000424576	[[112843006, 112843180], [112843656, 112843841], [112844097, 112844146], [112844550, 112844694], [112846043, 112846142], [112846223, 112846460], [112847214, 112847400]]	[[112843027, 112843180], [112843656, 112843841], [112844097, 112844146], [112844550, 112844694], [112846043, 112846142], [112846223, 112846460]]
ENST00000546368	[[112844097, 112844146], [112844550, 112846460], [112847390, 112847439]]	None
ENST00000550238	[[112844102, 112844146], [112844550, 112844694], [112846043, 112846142], [112848123, 112848174]]	[[112844102, 112844146], [112844550, 112844694], [112846043, 112846046]]
ENST00000551041	[[112844146, 112844873], [112846043, 112846142], [112846223, 112846460], [112847390, 112847409]]	None
ENST00000552455	[[112844432, 112844694], [112846043, 112846142], [112846223, 112846460], [112847214, 112847397]]	None
ENST00000550566	[[112844550, 112844694], [112846043, 112846142], [112846223, 112846460], [112846844, 112847378]]	[[112844550, 112844694], [112846043, 112846142], [112846223, 112846460]]
ENST00000549847	[[112844551, 112844694], [112846043, 112846142], [112846223, 112846460], [112847006, 112847115]]	[[112844551, 112844694], [112846043, 112846142], [112846223, 112846460]]
ENST00000553213	[[112844674, 112844694], [112846043, 112846142], [112846223, 112846460], [112847296, 112847378]]	[[112844674, 112844694], [112846043, 112846142], [112846223, 112846460]]
ENST00000549562	[[112845824, 112846142], [112846223, 112846460], [112847390, 112847418]]	None
ENST00000548343	[[112846063, 112846142], [112846223, 112846756]]	[[112846063, 112846142], [112846223, 112846460]]
NM_001320141	[[112842984, 112843180], [112843656, 112843841], [112844097, 112844146], [112844550, 112844694], [112846043, 112846142], [112846223, 112846460], [112848123, 112848209], [112849104, 112849246], [112856531, 112856647]]	[[112843027, 112843180], [112843656, 112843841], [112844097, 112844146], [112844550, 112844694], [112846043, 112846142], [112846223, 112846460]]
NM_001320140	[[112842984, 112843180], [112843656, 112843841], [112844097, 112844146], [112844550, 112844694], [112846043, 112846142], [112846223, 112846460], [112846844, 112847123]]	[[112843027, 112843180], [112843656, 112843841], [112844097, 112844146], [112844550, 112844694], [112846043, 112846142], [112846223, 112846460]]
NM_001320138	[[112842984, 112843180], [112843656, 112843841], [112844097, 112844146], [112844550, 112844694], [112846043, 112846142], [112846223, 112846460], [112846853, 112847123]]	[[112843027, 112843180], [112843656, 112843841], [112844097, 112844146], [112844550, 112844694], [112846043, 112846142], [112846223, 112846460]]
NM_001320139	[[112842984, 112843180], [112843656, 112843841], [112844097, 112844146], [112844550, 112844694], [112846043, 112846142], [112846223, 112846460], [112847006, 112847123]]	[[112843027, 112843180], [112843656, 112843841], [112844097, 112844146], [112844550, 112844694], [112846043, 112846142], [112846223, 112846460]]
NM_001320137	[[112842984, 112843180], [112843656, 112843841], [112844097, 112844146], [112844550, 112844694], [112846043, 112846142], [112846223, 112846460], [112847209, 112847445]]	[[112843027, 112843180], [112843656, 112843841], [112844097, 112844146], [112844550, 112844694], [112846043, 112846142], [112846223, 112846460]]
NM_001024662	[[112842984, 112843180], [112843656, 112843841], [112844097, 112844146], [112844550, 112844694], [112846043, 112846142], [112846223, 112846460], [112847214, 112847445]]	[[112843027, 112843180], [112843656, 112843841], [112844097, 112844146], [112844550, 112844694], [112846043, 112846142], [112846223, 112846460]]
NM_000970	[[112842984, 112843180], [112843656, 112843841], [112844097, 112844146], [112844550, 112844694], [112846043, 112846142], [112846223, 112846460], [112847390, 112847445]]	[[112843027, 112843180], [112843656, 112843841], [112844097, 112844146], [112844550, 112844694], [112846043, 112846142], [112846223, 112846460]]
NM_001320142	[[112842984, 112843180], [112843656, 112843841], [112844097, 112844146], [112844550, 112844694], [112846043, 112846142], [112848123, 112848209], [112849104, 112849246]]	[[112843027, 112843180], [112843656, 112843841], [112844097, 112844146], [112844550, 112844694], [112846043, 112846046]]