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
ENST00000377899	[[17206751, 17207024], [17207974, 17208127], [17240884, 17240989], [17338971, 17339085], [17341176, 17341285], [17349884, 17349922], [17389907, 17389984], [17410079, 17410168], [17417352, 17417528], [17434386, 17434602], [17436992, 17437093], [17445970, 17446198], [17462228, 17465223]]	[[17208007, 17208127], [17240884, 17240989], [17338971, 17339085], [17341176, 17341285], [17349884, 17349922], [17389907, 17389984], [17410079, 17410168], [17417352, 17417528], [17434386, 17434602], [17436992, 17437093], [17445970, 17446198], [17462228, 17462715]]
ENST00000262545	[[17207635, 17208127], [17240884, 17240989], [17338971, 17339085], [17341176, 17341285], [17349884, 17349922], [17389907, 17389984], [17410079, 17410168], [17417352, 17417528], [17434386, 17434602], [17436992, 17437093], [17445970, 17446198], [17462228, 17465223]]	[[17207950, 17208127], [17240884, 17240989], [17338971, 17339085], [17341176, 17341285], [17349884, 17349922], [17389907, 17389984], [17410079, 17410168], [17417352, 17417528], [17434386, 17434602], [17436992, 17437093], [17445970, 17446198], [17462228, 17462715]]
ENST00000536609	[[17207700, 17208127], [17338971, 17339085], [17341176, 17341285], [17349884, 17349922], [17389907, 17389984], [17410079, 17410168], [17417352, 17417528], [17434386, 17434602], [17436992, 17437093], [17445970, 17446198], [17462228, 17462928]]	[[17207950, 17208127], [17338971, 17339085], [17341176, 17341285], [17349884, 17349922], [17389907, 17389984], [17410079, 17410168], [17417352, 17417528], [17434386, 17434602], [17436992, 17437093], [17445970, 17446198], [17462228, 17462715]]
ENST00000470007	[[17208775, 17208947], [17240884, 17240989], [17338971, 17339085], [17341176, 17341285], [17349884, 17349922], [17389907, 17389955]]	None
ENST00000459871	[[17444077, 17446198], [17462228, 17462932]]	None
NM_001201528	[[17206751, 17207024], [17207974, 17208127], [17240884, 17240989], [17338971, 17339085], [17341176, 17341285], [17349884, 17349922], [17389907, 17389984], [17410079, 17410168], [17417352, 17417528], [17434386, 17434602], [17436992, 17437093], [17445970, 17446198], [17462228, 17465223]]	[[17208007, 17208127], [17240884, 17240989], [17338971, 17339085], [17341176, 17341285], [17349884, 17349922], [17389907, 17389984], [17410079, 17410168], [17417352, 17417528], [17434386, 17434602], [17436992, 17437093], [17445970, 17446198], [17462228, 17462715]]
NM_001201529	[[17207596, 17208127], [17338971, 17339085], [17341176, 17341285], [17349884, 17349922], [17389907, 17389984], [17410079, 17410168], [17417352, 17417528], [17434386, 17434602], [17436992, 17437093], [17445970, 17446198], [17462228, 17465223]]	[[17207950, 17208127], [17338971, 17339085], [17341176, 17341285], [17349884, 17349922], [17389907, 17389984], [17410079, 17410168], [17417352, 17417528], [17434386, 17434602], [17436992, 17437093], [17445970, 17446198], [17462228, 17462715]]
NM_002594	[[17207596, 17208127], [17240884, 17240989], [17338971, 17339085], [17341176, 17341285], [17349884, 17349922], [17389907, 17389984], [17410079, 17410168], [17417352, 17417528], [17434386, 17434602], [17436992, 17437093], [17445970, 17446198], [17462228, 17465223]]	[[17207950, 17208127], [17240884, 17240989], [17338971, 17339085], [17341176, 17341285], [17349884, 17349922], [17389907, 17389984], [17410079, 17410168], [17417352, 17417528], [17434386, 17434602], [17436992, 17437093], [17445970, 17446198], [17462228, 17462715]]

Promoter

Chrom	Start	End	Description
chr20	17207640	17207661	CAGE_peak_2_at_PCSK2_5end
chr20	17207665	17207699	CAGE_peak_1_at_PCSK2_5end
chr20	17207711	17207722	CAGE_peak_3_at_PCSK2_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr20	GH20I017504	17504388	17507617	1.3	[{'connected_gene': 'RRBP1', 'score': 9.76}, {'connected_gene': 'PCSK2', 'score': 2.41}, {'connected_gene': 'PIR60545', 'score': 0.39}, {'connected_gene': 'RPS27AP2', 'score': 0.39}, {'connected_gene': 'BFSP1', 'score': 0.21}]
chr20	GH20I017460	17460343	17460629	0.61	[{'connected_gene': 'PCSK2', 'score': 2.6}, {'connected_gene': 'DYNLT3P1', 'score': 0.37}, {'connected_gene': 'LOC105372546', 'score': 0.12}]
chr20	GH20I017421	17421805	17422156	0.45	[{'connected_gene': 'PCSK2', 'score': 6.65}, {'connected_gene': 'BANF2', 'score': 2.16}, {'connected_gene': 'DYNLT3P1', 'score': 0.22}, {'connected_gene': 'LOC105372546', 'score': 0.16}]
chr20	GH20I017282	17282216	17283115	0.2	[{'connected_gene': 'PCSK2', 'score': 18.2}, {'connected_gene': 'GC20P017279', 'score': 0.77}, {'connected_gene': 'LOC105372546', 'score': 0.26}]
chr20	GH20I017227	17227716	17227865	0.56	[{'connected_gene': 'PCSK2', 'score': 550.77}, {'connected_gene': 'GC20P017279', 'score': 0.23}]
chr20	GH20I017226	17226185	17227085	1.81	[{'connected_gene': 'PCSK2', 'score': 550.77}, {'connected_gene': 'GC20P017279', 'score': 0.23}]
chr20	GH20I017431	17431876	17431965	0.52	[{'connected_gene': 'DYNLT3P1', 'score': 0.25}, {'connected_gene': 'LOC105372546', 'score': 0.15}, {'connected_gene': 'PCSK2', 'score': 0.08}]
chr20	GH20I017344	17344256	17344305	0.31	[{'connected_gene': 'LOC105372546', 'score': 0.37}, {'connected_gene': 'PCSK2', 'score': 0.13}, {'connected_gene': 'DYNLT3P1', 'score': 0.12}]