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
ENST00000353703	[[43514316, 43514527], [43530171, 43530474], [43532633, 43532757], [43533608, 43533772], [43534641, 43534737], [43535022, 43537173]]	[[43530174, 43530474], [43532633, 43532757], [43533608, 43533772], [43534641, 43534737], [43535022, 43535079]]
ENST00000479421	[[43514342, 43514527], [43530171, 43530474], [43531676, 43531762], [43532633, 43532757], [43533608, 43533772], [43534641, 43534737], [43535022, 43535161]]	None
ENST00000372839	[[43514351, 43514527], [43516288, 43516383], [43530171, 43530474], [43532633, 43532757], [43533608, 43533772], [43534641, 43534737], [43535022, 43537173]]	[[43530174, 43530474], [43532633, 43532757], [43533608, 43533772], [43534641, 43534737], [43535022, 43535079]]
ENST00000428262	[[43514380, 43514527], [43516185, 43516383], [43530171, 43530474]]	[[43530174, 43530474]]
ENST00000445830	[[43514392, 43514527], [43515519, 43515619], [43516288, 43516383], [43530171, 43530397]]	[[43530174, 43530397]]
ENST00000477896	[[43532459, 43532757], [43533608, 43533720]]	None
ENST00000479758	[[43534231, 43534737], [43535022, 43535161]]	None
NM_139323	[[43514239, 43514527], [43530171, 43530474], [43532633, 43532757], [43533608, 43533772], [43534641, 43534737], [43535022, 43537173]]	[[43530174, 43530474], [43532633, 43532757], [43533608, 43533772], [43534641, 43534737], [43535022, 43535079]]
NM_003404	[[43514239, 43514527], [43516288, 43516383], [43530171, 43530474], [43532633, 43532757], [43533608, 43533772], [43534641, 43534737], [43535022, 43537173]]	[[43530174, 43530474], [43532633, 43532757], [43533608, 43533772], [43534641, 43534737], [43535022, 43535079]]

Promoter

Chrom	Start	End	Description
chr20	43514315	43514319	CAGE_peak_2_at_YWHAB_5end
chr20	43514320	43514425	CAGE_peak_1_at_YWHAB_5end
chr20	43530272	43530286	CAGE_peak_3_at_YWHAB_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr20	GH20I044909	44909300	44912189	2.33	[{'connected_gene': 'PABPC1L', 'score': 561.43}, {'connected_gene': 'YWHAB', 'score': 33.71}, {'connected_gene': 'ENSG00000271984', 'score': 29.77}, {'connected_gene': 'ZSWIM1', 'score': 19.38}, {'connected_gene': 'SPATA25', 'score': 14.33}, {'connected_gene': 'TOMM34', 'score': 10.65}, {'connected_gene': 'STK4-AS1', 'score': 10.63}, {'connected_gene': 'STK4', 'score': 10.63}, {'connected_gene': 'DBNDD2', 'score': 1.57}, {'connected_gene': 'PIR52220', 'score': 0.34}]
chr20	GH20I044867	44867401	44867829	0.99	[{'connected_gene': 'PABPC1L', 'score': 16.75}, {'connected_gene': 'YWHAB', 'score': 14.75}, {'connected_gene': 'KCNK15', 'score': 11.77}, {'connected_gene': 'KCNK15-AS1', 'score': 11.77}, {'connected_gene': 'RIMS4', 'score': 10.76}, {'connected_gene': 'ENSG00000132832', 'score': 10.75}, {'connected_gene': 'OSER1', 'score': 9.79}, {'connected_gene': 'GC20M044881', 'score': 0.39}, {'connected_gene': 'GC20M044880', 'score': 0.39}, {'connected_gene': 'PGBD4P2', 'score': 0.31}]
chr20	GH20I044884	44884575	44887661	2.07	[{'connected_gene': 'YWHAB', 'score': 572.55}, {'connected_gene': 'SYS1', 'score': 9.8}, {'connected_gene': 'PABPC1L', 'score': 6.28}, {'connected_gene': 'WFDC5', 'score': 5.43}, {'connected_gene': 'WFDC12', 'score': 4.35}]
chr20	GH20I044896	44896201	44897800	1.02	[{'connected_gene': 'YWHAB', 'score': 22.1}, {'connected_gene': 'PABPC1L', 'score': 0.39}]
chr20	GH20I044888	44888412	44890138	0.65	[{'connected_gene': 'YWHAB', 'score': 22.66}, {'connected_gene': 'PABPC1L', 'score': 12.22}]
chr20	GH20I044860	44860983	44864204	0.79	[{'connected_gene': 'YWHAB', 'score': 17.9}, {'connected_gene': 'KCNK15', 'score': 11.61}, {'connected_gene': 'KCNK15-AS1', 'score': 11.61}, {'connected_gene': 'RIMS4', 'score': 11.35}, {'connected_gene': 'WISP2', 'score': 11.22}, {'connected_gene': 'ENSG00000132832', 'score': 10.84}, {'connected_gene': 'PABPC1L', 'score': 10.4}, {'connected_gene': 'GC20M044881', 'score': 0.37}, {'connected_gene': 'GC20M044880', 'score': 0.37}, {'connected_gene': 'PGBD4P2', 'score': 0.34}]
chr20	GH20I044856	44856020	44857209	0.78	[{'connected_gene': 'YWHAB', 'score': 11.68}, {'connected_gene': 'KCNK15', 'score': 11.47}, {'connected_gene': 'KCNK15-AS1', 'score': 11.47}, {'connected_gene': 'ENSG00000132832', 'score': 10.83}, {'connected_gene': 'TOMM34', 'score': 6.58}, {'connected_gene': 'PGBD4P2', 'score': 0.39}, {'connected_gene': 'GC20M044881', 'score': 0.34}, {'connected_gene': 'GC20M044880', 'score': 0.34}]
chr20	GH20I044849	44849572	44852733	0.49	[{'connected_gene': 'YWHAB', 'score': 18.37}, {'connected_gene': 'RIMS4', 'score': 11.82}, {'connected_gene': 'KCNK15', 'score': 11.48}, {'connected_gene': 'KCNK15-AS1', 'score': 11.48}, {'connected_gene': 'ENSG00000132832', 'score': 10.84}, {'connected_gene': 'PABPC1L', 'score': 10.37}, {'connected_gene': 'TOMM34', 'score': 8.21}, {'connected_gene': 'PGBD4P2', 'score': 0.44}, {'connected_gene': 'GC20M044881', 'score': 0.31}, {'connected_gene': 'GC20M044880', 'score': 0.31}]
chr20	GH20I044965	44965174	44972677	2.58	[{'connected_gene': 'STK4', 'score': 575.1}, {'connected_gene': 'PCIF1', 'score': 24.39}, {'connected_gene': 'SYS1', 'score': 14.48}, {'connected_gene': 'ENSG00000271984', 'score': 12.46}, {'connected_gene': 'PABPC1L', 'score': 10.77}, {'connected_gene': 'DNTTIP1', 'score': 10.34}, {'connected_gene': 'OSER1', 'score': 9.75}, {'connected_gene': 'WFDC5', 'score': 7.35}, {'connected_gene': 'TOMM34', 'score': 6.2}, {'connected_gene': 'SERINC3', 'score': 4.71}, {'connected_gene': 'YWHAB', 'score': 1.84}, {'connected_gene': 'ADA', 'score': 1.18}, {'connected_gene': 'STK4-AS1', 'score': 0.77}, {'connected_gene': 'ENSG00000252021', 'score': 0.28}]
chr20	GH20I045035	45035585	45037401	1.32	[{'connected_gene': 'WFDC5', 'score': 10.69}, {'connected_gene': 'PABPC1L', 'score': 10.27}, {'connected_gene': 'YWHAB', 'score': 4.3}, {'connected_gene': 'ENSG00000252021', 'score': 0.29}, {'connected_gene': 'PIR48188', 'score': 0.28}, {'connected_gene': 'STK4', 'score': 0.19}]
chr20	GH20I045027	45027977	45032036	0.43	[{'connected_gene': 'WFDC5', 'score': 10.68}, {'connected_gene': 'PABPC1L', 'score': 10.44}, {'connected_gene': 'STK4', 'score': 8.85}, {'connected_gene': 'TOMM34', 'score': 5.78}, {'connected_gene': 'YWHAB', 'score': 4.57}, {'connected_gene': 'ENSG00000252021', 'score': 0.31}, {'connected_gene': 'PIR48188', 'score': 0.25}]
chr20	GH20I044837	44837640	44838801	0.31	[{'connected_gene': 'RIMS4', 'score': 12.02}, {'connected_gene': 'KCNK15', 'score': 11.16}, {'connected_gene': 'KCNK15-AS1', 'score': 11.16}, {'connected_gene': 'ENSG00000132832', 'score': 10.75}, {'connected_gene': 'PABPC1L', 'score': 10.22}, {'connected_gene': 'YWHAB', 'score': 5.63}, {'connected_gene': 'PGBD4P2', 'score': 0.77}]