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
ENST00000334464	[[119039999, 119044982], [119049696, 119049859], [119078382, 119078485], [119100490, 119100613], [119133866, 119134978]]	[[119042778, 119044982], [119049696, 119049859], [119078382, 119078485], [119100490, 119100613], [119133866, 119134738]]
ENST00000482496	[[119043817, 119044982], [119049696, 119049859], [119073674, 119073746]]	None
ENST00000489302	[[119044618, 119044982], [119045204, 119045310], [119049696, 119049859], [119078382, 119078489]]	None
ENST00000489491	[[119049696, 119049859], [119133866, 119133992]]	None
NM_173791	[[119039999, 119044982], [119049696, 119049859], [119078382, 119078485], [119100490, 119100613], [119133866, 119134978]]	[[119042778, 119044982], [119049696, 119049859], [119078382, 119078485], [119100490, 119100613], [119133866, 119134738]]

Promoter

Chrom	Start	End	Description
chr10	119134340	119134380	CAGE_peak_7_at_PDZD8_5end
chr10	119134918	119134986	CAGE_peak_1_at_PDZD8_5end
chr10	119135001	119135008	CAGE_peak_3_at_PDZD8_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr10	GH10I117264	117264513	117265444	0.68	[{'connected_gene': 'SLC18A2', 'score': 50.72}, {'connected_gene': 'PDZD8', 'score': 19.14}, {'connected_gene': 'LOC105378500', 'score': 12.35}, {'connected_gene': 'ENSG00000277879', 'score': 0.77}]
chr10	GH10I117260	117259917	117261419	0.56	[{'connected_gene': 'SLC18A2', 'score': 44.17}, {'connected_gene': 'PDZD8', 'score': 14.69}, {'connected_gene': 'ENSG00000277879', 'score': 0.44}, {'connected_gene': 'LOC105378500', 'score': 0.37}]
chr10	GH10I117360	117360090	117368370	1.34	[{'connected_gene': 'SLC18A2', 'score': 47.71}, {'connected_gene': 'PDZD8', 'score': 20.01}, {'connected_gene': 'LOC105378500', 'score': 9.71}, {'connected_gene': 'PIR57034', 'score': 0.18}]
chr10	GH10I117262	117262577	117262846	0.56	[{'connected_gene': 'SLC18A2', 'score': 12.35}, {'connected_gene': 'PDZD8', 'score': 10.09}, {'connected_gene': 'ENSG00000277879', 'score': 0.44}, {'connected_gene': 'LOC105378500', 'score': 0.37}]
chr10	GH10I117263	117263391	117263496	0.2	[{'connected_gene': 'SLC18A2', 'score': 12.35}, {'connected_gene': 'LOC105378500', 'score': 12.35}, {'connected_gene': 'PDZD8', 'score': 10.09}, {'connected_gene': 'ENSG00000277879', 'score': 0.44}]
chr10	GH10I117404	117404342	117405631	0.87	[{'connected_gene': 'PDZD8', 'score': 21.11}, {'connected_gene': 'SLC18A2', 'score': 11.37}, {'connected_gene': 'LOC105378502', 'score': 0.34}]
chr10	GH10I117437	117437602	117437998	0.38	[{'connected_gene': 'PDZD8', 'score': 11.6}, {'connected_gene': 'SLC18A2', 'score': 10.34}, {'connected_gene': 'LOC105378500', 'score': 10.34}, {'connected_gene': 'LOC105378502', 'score': 0.39}, {'connected_gene': 'GC10P117520', 'score': 0.18}]
chr10	GH10I117456	117456201	117458190	0.77	[{'connected_gene': 'PDZD8', 'score': 11.02}, {'connected_gene': 'SLC18A2', 'score': 9.95}, {'connected_gene': 'LOC105378500', 'score': 9.95}, {'connected_gene': 'ENSG00000235198', 'score': 9.56}, {'connected_gene': 'LOC105378502', 'score': 0.29}, {'connected_gene': 'GC10P117520', 'score': 0.21}]
chr10	GH10I117408	117408004	117412905	1.14	[{'connected_gene': 'PDZD8', 'score': 24.51}, {'connected_gene': 'SLC18A2', 'score': 10.08}, {'connected_gene': 'LOC105378500', 'score': 10.08}, {'connected_gene': 'LOC105378502', 'score': 0.39}]
chr10	GH10I117353	117353662	117354342	0.58	[{'connected_gene': 'PDZD8', 'score': 31.22}, {'connected_gene': 'SLC18A2', 'score': 10.13}, {'connected_gene': 'LOC105378500', 'score': 10.13}, {'connected_gene': 'PIR57034', 'score': 0.19}]
chr10	GH10I117352	117352801	117353000	0.31	[{'connected_gene': 'PDZD8', 'score': 31.22}, {'connected_gene': 'SLC18A2', 'score': 10.13}, {'connected_gene': 'LOC105378500', 'score': 10.13}, {'connected_gene': 'PIR57034', 'score': 0.19}]
chr10	GH10I117370	117370306	117376681	2.26	[{'connected_gene': 'PDZD8', 'score': 570.64}, {'connected_gene': 'SLC18A2', 'score': 13.81}, {'connected_gene': 'PIR57034', 'score': 0.16}]
chr10	GH10I117438	117438747	117440048	0.54	[{'connected_gene': 'PDZD8', 'score': 11.74}, {'connected_gene': 'EMX2OS', 'score': 5.76}, {'connected_gene': 'LOC105378502', 'score': 0.39}, {'connected_gene': 'GC10P117520', 'score': 0.18}]
chr10	GH10I117502	117502907	117503733	0.54	[{'connected_gene': 'PDZD8', 'score': 4.5}, {'connected_gene': 'GC10P117520', 'score': 0.37}, {'connected_gene': 'EMX2OS', 'score': 0.26}, {'connected_gene': 'LOC105378502', 'score': 0.18}]
chr10	GH10I117441	117441410	117443857	1.05	[{'connected_gene': 'PDZD8', 'score': 11.42}, {'connected_gene': 'LOC105378502', 'score': 0.37}, {'connected_gene': 'GC10P117520', 'score': 0.18}]
chr10	GH10I117454	117454630	117454779	0.62	[{'connected_gene': 'PDZD8', 'score': 10.54}, {'connected_gene': 'ENSG00000235198', 'score': 9.56}, {'connected_gene': 'LOC105378502', 'score': 0.31}, {'connected_gene': 'GC10P117520', 'score': 0.2}]
chr10	GH10I117414	117414070	117414139	0.52	[{'connected_gene': 'PDZD8', 'score': 12.11}, {'connected_gene': 'LOC105378502', 'score': 0.39}]
chr10	GH10I117383	117383010	117383159	0.46	[{'connected_gene': 'PDZD8', 'score': 0.44}, {'connected_gene': 'LOC105378502', 'score': 0.26}]
chr10	GH10I117476	117476287	117478192	0.49	[{'connected_gene': 'PDZD8', 'score': 10.84}, {'connected_gene': 'ENSG00000231104', 'score': 10.09}, {'connected_gene': 'LOC105378500', 'score': 9.92}, {'connected_gene': 'SLC18A2', 'score': 9.91}, {'connected_gene': 'GC10P117520', 'score': 0.26}, {'connected_gene': 'LOC105378502', 'score': 0.23}, {'connected_gene': 'EMX2OS', 'score': 0.2}]
chr10	GH10I117460	117460888	117463402	1.04	[{'connected_gene': 'PDZD8', 'score': 11.13}, {'connected_gene': 'LOC105378500', 'score': 10.01}, {'connected_gene': 'SLC18A2', 'score': 10.01}, {'connected_gene': 'LOC105378502', 'score': 0.28}, {'connected_gene': 'GC10P117520', 'score': 0.22}]
chr10	GH10I117350	117350801	117351600	0.38	[{'connected_gene': 'PDZD8', 'score': 31.21}, {'connected_gene': 'LOC105378500', 'score': 10.14}, {'connected_gene': 'SLC18A2', 'score': 10.13}, {'connected_gene': 'PIR57034', 'score': 0.2}]
chr10	GH10I117322	117322049	117322559	0.46	[{'connected_gene': 'PDZD8', 'score': 30.01}, {'connected_gene': 'LOC105378500', 'score': 12.09}, {'connected_gene': 'SLC18A2', 'score': 12.08}, {'connected_gene': 'PIR57034', 'score': 0.26}]
chr10	GH10I117344	117344675	117347649	1.03	[{'connected_gene': 'PDZD8', 'score': 31.36}, {'connected_gene': 'LOC105378500', 'score': 9.81}, {'connected_gene': 'SLC18A2', 'score': 9.8}, {'connected_gene': 'PIR57034', 'score': 0.21}]
chr10	GH10I117341	117341845	117343477	1.12	[{'connected_gene': 'PDZD8', 'score': 31.03}, {'connected_gene': 'PIR57034', 'score': 0.21}]
chr10	GH10I117424	117424785	117425979	0.59	[{'connected_gene': 'LOC105378502', 'score': 550.77}, {'connected_gene': 'PDZD8', 'score': 11.9}, {'connected_gene': 'SLC18A2', 'score': 10.29}, {'connected_gene': 'LOC105378500', 'score': 10.29}, {'connected_gene': 'GC10P117520', 'score': 0.16}]
chr10	GH10I117268	117268885	117269342	0.51	[{'connected_gene': 'ENSG00000277879', 'score': 550.77}, {'connected_gene': 'SLC18A2', 'score': 55.1}, {'connected_gene': 'PDZD8', 'score': 23.7}, {'connected_gene': 'LOC105378500', 'score': 12.22}, {'connected_gene': 'PIR32064', 'score': 0.39}]