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
ENST00000257600	[[113495494, 113496256], [113515228, 113515910], [113530966, 113531028], [113531343, 113531505], [113531842, 113531904], [113532593, 113532752], [113532846, 113533008], [113533129, 113533219], [113534519, 113535833]]	[[113495997, 113496256], [113515228, 113515910], [113530966, 113531028], [113531343, 113531505], [113531842, 113531904], [113532593, 113532752], [113532846, 113533008], [113533129, 113533219], [113534519, 113534744]]
ENST00000548759	[[113494513, 113494749], [113495253, 113495957]]	None
ENST00000547974	[[113527670, 113527865], [113530966, 113531028], [113531343, 113531505], [113531842, 113531904], [113532593, 113532752], [113532846, 113533008], [113533129, 113533219], [113534519, 113535802]]	None
ENST00000553140	[[113531294, 113531505], [113531842, 113531904], [113532593, 113532752]]	None
ENST00000547730	[[113532844, 113533008], [113533129, 113533428]]	None
NM_004416	[[113495661, 113496256], [113515228, 113515910], [113530966, 113531028], [113531343, 113531505], [113531842, 113531904], [113532593, 113532752], [113532846, 113533008], [113533129, 113533219], [113534519, 113535833]]	[[113495997, 113496256], [113515228, 113515910], [113530966, 113531028], [113531343, 113531505], [113531842, 113531904], [113532593, 113532752], [113532846, 113533008], [113533129, 113533219], [113534519, 113534744]]

Promoter

Chrom	Start	End	Description
chr12	113494494	113494505	CAGE_peak_4_at_DTX1_5end
chr12	113494516	113494577	CAGE_peak_1_at_DTX1_5end
chr12	113494585	113494601	CAGE_peak_3_at_DTX1_5end
chr12	113494685	113494727	CAGE_peak_2_at_DTX1_5end
chr12	113495162	113495172	CAGE_peak_11_at_DTX1_5end
chr12	113495245	113495253	CAGE_peak_5_at_DTX1_5end
chr12	113495492	113495503	CAGE_peak_9_at_DTX1_5end
chr12	113495715	113495725	CAGE_peak_8_at_DTX1_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr12	GH12I113226	113226199	113234312	1.73	[{'connected_gene': 'RITA1', 'score': 24.24}, {'connected_gene': 'RBM19', 'score': 12.15}, {'connected_gene': 'DDX54', 'score': 11.55}, {'connected_gene': 'ENSG00000201208', 'score': 11.52}, {'connected_gene': 'IQCD', 'score': 2.8}, {'connected_gene': 'TPCN1', 'score': 2.65}, {'connected_gene': 'DTX1', 'score': 1.39}, {'connected_gene': 'ENSG00000277566', 'score': 0.37}]
chr12	GH12I113161	113161576	113161745	0.56	[{'connected_gene': 'RITA1', 'score': 13.97}, {'connected_gene': 'DTX1', 'score': 10.84}, {'connected_gene': 'MIR7106', 'score': 0.77}, {'connected_gene': 'GC12M113179', 'score': 0.37}, {'connected_gene': 'ENSG00000201208', 'score': 0.37}, {'connected_gene': 'DDX54', 'score': 0.34}]
chr12	GH12I112976	112976522	112981639	2.07	[{'connected_gene': 'OAS2', 'score': 566.9}, {'connected_gene': 'GC12M112972', 'score': 550.77}, {'connected_gene': 'OAS3', 'score': 41.63}, {'connected_gene': 'DTX1', 'score': 11.33}, {'connected_gene': 'OAS1', 'score': 6.12}, {'connected_gene': 'SLC8B1', 'score': 3.04}, {'connected_gene': 'SDSL', 'score': 2.45}, {'connected_gene': 'GC12M112984', 'score': 0.44}, {'connected_gene': 'ENSG00000257452', 'score': 0.28}]
chr12	GH12I113060	113060647	113061831	0.54	[{'connected_gene': 'PLBD2', 'score': 5.82}, {'connected_gene': 'DTX1', 'score': 0.77}, {'connected_gene': 'GC12P113070', 'score': 0.44}]
chr12	GH12I113097	113097816	113097965	0.66	[{'connected_gene': 'DTX1', 'score': 12.31}, {'connected_gene': 'ENSG00000201208', 'score': 11.21}, {'connected_gene': 'DDX54', 'score': 11.2}, {'connected_gene': 'RITA1', 'score': 11.2}, {'connected_gene': 'GC12P113070', 'score': 0.31}, {'connected_gene': 'RASAL1', 'score': 0.28}]
chr12	GH12I113098	113098139	113099105	1.31	[{'connected_gene': 'DTX1', 'score': 12.31}, {'connected_gene': 'ENSG00000201208', 'score': 11.22}, {'connected_gene': 'DDX54', 'score': 11.2}, {'connected_gene': 'RITA1', 'score': 11.2}, {'connected_gene': 'RASAL1', 'score': 6.76}, {'connected_gene': 'GC12P113070', 'score': 0.31}]
chr12	GH12I113094	113094345	113096076	0.49	[{'connected_gene': 'DTX1', 'score': 12.33}, {'connected_gene': 'ENSG00000201208', 'score': 11.21}, {'connected_gene': 'DDX54', 'score': 11.19}, {'connected_gene': 'RITA1', 'score': 11.19}, {'connected_gene': 'RASAL1', 'score': 6.94}, {'connected_gene': 'GC12P113070', 'score': 0.34}]
chr12	GH12I113089	113089028	113090786	0.92	[{'connected_gene': 'DTX1', 'score': 12.97}, {'connected_gene': 'ENSG00000201208', 'score': 11.66}, {'connected_gene': 'DDX54', 'score': 11.65}, {'connected_gene': 'RITA1', 'score': 11.65}, {'connected_gene': 'CFAP73', 'score': 11.5}, {'connected_gene': 'RASAL1', 'score': 7.52}, {'connected_gene': 'GC12P113070', 'score': 0.37}]
chr12	GH12I113074	113074387	113076211	1.21	[{'connected_gene': 'DTX1', 'score': 8.67}, {'connected_gene': 'DDX54', 'score': 1.4}, {'connected_gene': 'GC12P113070', 'score': 0.44}, {'connected_gene': 'RASAL1', 'score': 0.21}]
chr12	GH12I113078	113078075	113079676	0.43	[{'connected_gene': 'DTX1', 'score': 7.11}, {'connected_gene': 'TPCN1', 'score': 4.77}, {'connected_gene': 'GC12P113070', 'score': 0.44}, {'connected_gene': 'RASAL1', 'score': 0.22}]
chr12	GH12I113056	113056063	113057205	1.35	[{'connected_gene': 'DTX1', 'score': 550.77}, {'connected_gene': 'OAS3', 'score': 4.43}, {'connected_gene': 'GC12M113048', 'score': 0.77}]
chr12	GH12I113031	113031076	113031205	0.72	[{'connected_gene': 'DTX1', 'score': 11.89}, {'connected_gene': 'OAS1', 'score': 11.69}, {'connected_gene': 'ENSG00000201208', 'score': 11.12}, {'connected_gene': 'DDX54', 'score': 11.11}, {'connected_gene': 'RITA1', 'score': 11.11}, {'connected_gene': 'CFAP73', 'score': 11.08}, {'connected_gene': 'OAS3', 'score': 11.0}, {'connected_gene': 'ENSG00000257452', 'score': 0.39}, {'connected_gene': 'RPS15AP32', 'score': 0.34}]
chr12	GH12I113086	113086158	113088145	1.41	[{'connected_gene': 'DTX1', 'score': 23.31}, {'connected_gene': 'CFAP73', 'score': 11.29}, {'connected_gene': 'RASAL1', 'score': 4.99}, {'connected_gene': 'GC12P113070', 'score': 0.37}]
chr12	GH12I113082	113082317	113083421	0.74	[{'connected_gene': 'DTX1', 'score': 19.25}, {'connected_gene': 'CFAP73', 'score': 11.28}, {'connected_gene': 'GC12P113070', 'score': 0.39}, {'connected_gene': 'RASAL1', 'score': 0.23}]
chr12	GH12I113092	113092706	113094327	1.11	[{'connected_gene': 'DTX1', 'score': 12.33}, {'connected_gene': 'CFAP73', 'score': 11.88}, {'connected_gene': 'ENSG00000201208', 'score': 11.2}, {'connected_gene': 'DDX54', 'score': 11.19}, {'connected_gene': 'RITA1', 'score': 11.19}, {'connected_gene': 'RASAL1', 'score': 7.2}, {'connected_gene': 'GC12P113070', 'score': 0.34}]
chr12	GH12I113162	113162236	113162385	0.66	[{'connected_gene': 'DTX1', 'score': 10.83}, {'connected_gene': 'MIR7106', 'score': 0.77}, {'connected_gene': 'GC12M113179', 'score': 0.37}, {'connected_gene': 'ENSG00000201208', 'score': 0.37}, {'connected_gene': 'DDX54', 'score': 0.34}]
chr12	GH12I113057	113057644	113057703	0.88	[{'connected_gene': 'DTX1', 'score': 550.77}, {'connected_gene': 'GC12P113070', 'score': 0.39}]
chr12	GH12I113052	113052423	113052614	0.6	[{'connected_gene': 'RPS15AP32', 'score': 550.77}, {'connected_gene': 'GC12M113048', 'score': 550.77}, {'connected_gene': 'DTX1', 'score': 17.53}, {'connected_gene': 'ENSG00000257452', 'score': 0.29}]
chr12	GH12I113039	113039973	113041603	1.12	[{'connected_gene': 'ENSG00000201208', 'score': 11.35}, {'connected_gene': 'RITA1', 'score': 11.34}, {'connected_gene': 'DDX54', 'score': 11.34}, {'connected_gene': 'OAS3', 'score': 5.52}, {'connected_gene': 'ENSG00000257452', 'score': 5.34}, {'connected_gene': 'SDSL', 'score': 4.95}, {'connected_gene': 'DTX1', 'score': 4.94}, {'connected_gene': 'SLC8B1', 'score': 2.98}, {'connected_gene': 'OAS2', 'score': 2.54}, {'connected_gene': 'OAS1', 'score': 1.3}, {'connected_gene': 'RPS15AP32', 'score': 0.39}]
chr12	GH12I113069	113069404	113072264	1.56	[{'connected_gene': 'GC12P113070', 'score': 550.77}, {'connected_gene': 'ENSG00000201208', 'score': 11.58}, {'connected_gene': 'RITA1', 'score': 11.57}, {'connected_gene': 'DDX54', 'score': 11.57}, {'connected_gene': 'CFAP73', 'score': 11.53}, {'connected_gene': 'DTX1', 'score': 7.53}, {'connected_gene': 'PLBD2', 'score': 5.45}, {'connected_gene': 'SDSL', 'score': 4.87}, {'connected_gene': 'RASAL1', 'score': 0.2}]
chr12	GH12I113062	113062141	113062864	1.09	[{'connected_gene': 'ENSG00000201208', 'score': 10.8}, {'connected_gene': 'DDX54', 'score': 10.8}, {'connected_gene': 'RITA1', 'score': 10.8}, {'connected_gene': 'OAS3', 'score': 4.24}, {'connected_gene': 'DTX1', 'score': 0.44}, {'connected_gene': 'GC12P113070', 'score': 0.44}]
chr12	GH12I113066	113066378	113067825	0.52	[{'connected_gene': 'ENSG00000201208', 'score': 11.57}, {'connected_gene': 'DDX54', 'score': 11.56}, {'connected_gene': 'RITA1', 'score': 11.56}, {'connected_gene': 'CFAP73', 'score': 11.52}, {'connected_gene': 'DTX1', 'score': 5.37}, {'connected_gene': 'GC12P113070', 'score': 0.77}]
chr12	GH12I113064	113064838	113066236	1.39	[{'connected_gene': 'ENSG00000201208', 'score': 11.57}, {'connected_gene': 'DDX54', 'score': 11.56}, {'connected_gene': 'RITA1', 'score': 11.56}, {'connected_gene': 'CFAP73', 'score': 11.52}, {'connected_gene': 'DTX1', 'score': 4.11}, {'connected_gene': 'GC12P113070', 'score': 0.77}]
chr12	GH12I113063	113062876	113063025	0.8	[{'connected_gene': 'ENSG00000201208', 'score': 10.8}, {'connected_gene': 'DDX54', 'score': 10.8}, {'connected_gene': 'RITA1', 'score': 10.8}, {'connected_gene': 'DTX1', 'score': 0.44}, {'connected_gene': 'GC12P113070', 'score': 0.44}]
chr12	GH12I113079	113079734	113081013	0.31	[{'connected_gene': 'GC12P113070', 'score': 0.39}, {'connected_gene': 'DTX1', 'score': 0.34}, {'connected_gene': 'RASAL1', 'score': 0.22}]