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
ENST00000520959	[[19759227, 19759302], [19805690, 19805851], [19809279, 19809459], [19810820, 19810932], [19811630, 19811662]]	[[19805830, 19805851], [19809279, 19809459], [19810820, 19810932], [19811630, 19811662]]
ENST00000524029	[[19796380, 19796467], [19796798, 19797039], [19805690, 19805851], [19809279, 19809419]]	[[19796951, 19797039], [19805690, 19805851], [19809279, 19809419]]
ENST00000522701	[[19796443, 19796467], [19796733, 19797039], [19805690, 19805851], [19809279, 19809347]]	[[19796951, 19797039], [19805690, 19805851], [19809279, 19809347]]
ENST00000311322	[[19796481, 19797039], [19805690, 19805851], [19809279, 19809459], [19810820, 19810932], [19811630, 19811864], [19813351, 19813594], [19816770, 19816891], [19818411, 19818594], [19819625, 19819730], [19822820, 19824769]]	[[19796951, 19797039], [19805690, 19805851], [19809279, 19809459], [19810820, 19810932], [19811630, 19811864], [19813351, 19813594], [19816770, 19816891], [19818411, 19818594], [19819625, 19819730], [19822820, 19822821]]
ENST00000519773	[[19796766, 19797039], [19804052, 19804209], [19805690, 19805814]]	[[19796951, 19797039], [19804052, 19804084]]
ENST00000521994	[[19796766, 19797039], [19805690, 19805851], [19809207, 19809339]]	None
ENST00000523696	[[19796882, 19797039], [19805690, 19805996]]	None
NM_000237	[[19796581, 19797039], [19805690, 19805851], [19809279, 19809459], [19810820, 19810932], [19811630, 19811864], [19813351, 19813594], [19816770, 19816891], [19818411, 19818594], [19819625, 19819730], [19822820, 19824770]]	[[19796951, 19797039], [19805690, 19805851], [19809279, 19809459], [19810820, 19810932], [19811630, 19811864], [19813351, 19813594], [19816770, 19816891], [19818411, 19818594], [19819625, 19819730], [19822820, 19822821]]

Promoter

Chrom	Start	End	Description
chr8	19796757	19796773	CAGE_peak_1_at_LPL_5end
chr8	19796859	19796870	CAGE_peak_2_at_LPL_5end
chr8	19796903	19796910	CAGE_peak_3_at_LPL_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr8	GH08I019966	19966285	19967003	0.2	[{'connected_gene': 'SLC18A1', 'score': 10.65}, {'connected_gene': 'GC08M019958', 'score': 0.77}, {'connected_gene': 'LPL', 'score': 0.21}, {'connected_gene': 'LOC105379311', 'score': 0.14}]
chr8	GH08I019965	19965098	19965799	0.4	[{'connected_gene': 'SLC18A1', 'score': 10.65}, {'connected_gene': 'LPL', 'score': 4.59}, {'connected_gene': 'GC08M019958', 'score': 0.77}, {'connected_gene': 'LOC105379311', 'score': 0.14}]
chr8	GH08I019816	19816330	19818937	2.09	[{'connected_gene': 'INTS10', 'score': 558.33}, {'connected_gene': 'LPL', 'score': 0.18}]
chr8	GH08I019821	19821070	19821219	0.49	[{'connected_gene': 'INTS10', 'score': 5.24}, {'connected_gene': 'LPL', 'score': 0.18}]
chr8	GH08I019843	19843656	19845437	0.74	[{'connected_gene': 'INTS10', 'score': 16.3}, {'connected_gene': 'LOC105379311', 'score': 9.8}, {'connected_gene': 'CSGALNACT1', 'score': 9.68}, {'connected_gene': 'LPL', 'score': 0.22}]
chr8	GH08I019861	19861970	19862259	0.49	[{'connected_gene': 'INTS10', 'score': 10.78}, {'connected_gene': 'LOC105379311', 'score': 10.21}, {'connected_gene': 'CSGALNACT1', 'score': 9.83}, {'connected_gene': 'LPL', 'score': 0.28}]
chr8	GH08I019958	19958057	19959624	0.63	[{'connected_gene': 'INTS10', 'score': 11.73}, {'connected_gene': 'LOC105379311', 'score': 10.68}, {'connected_gene': 'GC08M019958', 'score': 0.77}, {'connected_gene': 'GC08M019933', 'score': 0.44}, {'connected_gene': 'LPL', 'score': 0.22}]
chr8	GH08I019873	19873296	19874306	0.43	[{'connected_gene': 'LPL', 'score': 0.31}, {'connected_gene': 'INTS10', 'score': 0.22}]
chr8	GH08I019871	19871450	19871599	0.2	[{'connected_gene': 'LPL', 'score': 0.29}, {'connected_gene': 'INTS10', 'score': 0.23}]
chr8	GH08I020074	20074001	20074879	0.58	[{'connected_gene': 'LPL', 'score': 5.64}, {'connected_gene': 'LOC105379311', 'score': 0.77}, {'connected_gene': 'GC08M019958', 'score': 0.14}]
chr8	GH08I019898	19898201	19899000	0.31	[{'connected_gene': 'LPL', 'score': 0.77}, {'connected_gene': 'LOC105379309', 'score': 0.34}, {'connected_gene': 'INTS10', 'score': 0.18}]
chr8	GH08I019939	19939000	19940543	2.28	[{'connected_gene': 'LPL', 'score': 553.52}, {'connected_gene': 'GC08M019933', 'score': 0.44}, {'connected_gene': 'LOC105379309', 'score': 0.37}]
chr8	GH08I019938	19938881	19938940	0.88	[{'connected_gene': 'LPL', 'score': 550.28}, {'connected_gene': 'GC08M019933', 'score': 0.39}, {'connected_gene': 'LOC105379309', 'score': 0.37}]
chr8	GH08I019175	19175344	19178599	0.97	[{'connected_gene': 'PSD3', 'score': 11.01}, {'connected_gene': 'SH2D4A', 'score': 9.98}, {'connected_gene': 'LPL', 'score': 5.53}, {'connected_gene': 'GC08P019197', 'score': 0.34}, {'connected_gene': 'ENSG00000253557', 'score': 0.18}, {'connected_gene': 'LOC105379301', 'score': 0.17}]
chr8	GH08I019886	19886201	19887800	0.54	[{'connected_gene': 'LOC105379311', 'score': 9.93}, {'connected_gene': 'LPL', 'score': 0.39}, {'connected_gene': 'LOC105379309', 'score': 0.28}, {'connected_gene': 'INTS10', 'score': 0.2}]
chr8	GH08I019954	19954936	19956710	0.2	[{'connected_gene': 'LOC105379311', 'score': 10.85}, {'connected_gene': 'GC08M019933', 'score': 0.44}, {'connected_gene': 'GC08M019958', 'score': 0.44}, {'connected_gene': 'LPL', 'score': 0.23}]
chr8	GH08I019953	19953121	19954864	0.2	[{'connected_gene': 'LOC105379311', 'score': 10.22}, {'connected_gene': 'GC08M019933', 'score': 0.77}, {'connected_gene': 'GC08M019958', 'score': 0.44}, {'connected_gene': 'LPL', 'score': 0.23}]
chr8	GH08I019956	19956845	19957770	0.2	[{'connected_gene': 'LOC105379311', 'score': 10.85}, {'connected_gene': 'GC08M019958', 'score': 0.77}, {'connected_gene': 'GC08M019933', 'score': 0.44}, {'connected_gene': 'LPL', 'score': 0.22}]
chr8	GH08I019944	19944063	19945699	0.52	[{'connected_gene': 'LOC105379311', 'score': 10.29}, {'connected_gene': 'GC08M019933', 'score': 0.77}, {'connected_gene': 'LOC105379309', 'score': 0.34}, {'connected_gene': 'LPL', 'score': 0.26}]
chr8	GH08I019928	19928012	19929538	0.6	[{'connected_gene': 'LOC105379309', 'score': 0.44}, {'connected_gene': 'GC08M019933', 'score': 0.34}, {'connected_gene': 'LPL', 'score': 0.31}]
chr8	GH08I019923	19923391	19926097	0.2	[{'connected_gene': 'LOC105379309', 'score': 550.77}, {'connected_gene': 'LOC105379311', 'score': 10.58}, {'connected_gene': 'GC08M019933', 'score': 0.34}, {'connected_gene': 'LPL', 'score': 0.34}]
chr8	GH08I019962	19962137	19962800	0.71	[{'connected_gene': 'GC08M019958', 'score': 550.77}, {'connected_gene': 'SLC18A1', 'score': 10.65}, {'connected_gene': 'LPL', 'score': 0.21}, {'connected_gene': 'LOC105379311', 'score': 0.13}]
chr8	GH08I019950	19950985	19951245	0.62	[{'connected_gene': 'GC08M019933', 'score': 550.77}, {'connected_gene': 'LOC105379311', 'score': 10.38}, {'connected_gene': 'GC08M019958', 'score': 0.39}, {'connected_gene': 'LPL', 'score': 0.25}]
chr8	GH08I019960	19960795	19961387	0.2	[{'connected_gene': 'GC08M019958', 'score': 550.77}, {'connected_gene': 'LOC105379311', 'score': 10.68}, {'connected_gene': 'GC08M019933', 'score': 0.39}, {'connected_gene': 'LPL', 'score': 0.22}]
chr8	GH08I019949	19949856	19950604	0.2	[{'connected_gene': 'GC08M019933', 'score': 550.77}, {'connected_gene': 'LOC105379311', 'score': 10.38}, {'connected_gene': 'GC08M019958', 'score': 0.39}, {'connected_gene': 'LPL', 'score': 0.25}]
chr8	GH08I019947	19947340	19949004	0.2	[{'connected_gene': 'GC08M019933', 'score': 550.77}, {'connected_gene': 'LOC105379311', 'score': 10.36}, {'connected_gene': 'LOC105379309', 'score': 0.31}, {'connected_gene': 'LPL', 'score': 0.25}]
chr8	GH08I019937	19937050	19937199	0.8	[{'connected_gene': 'GC08M019933', 'score': 0.39}, {'connected_gene': 'LOC105379309', 'score': 0.39}, {'connected_gene': 'LPL', 'score': 0.28}]
chr8	GH08I019941	19941801	19942200	0.4	[{'connected_gene': 'GC08M019933', 'score': 0.44}, {'connected_gene': 'LOC105379309', 'score': 0.37}, {'connected_gene': 'LPL', 'score': 0.26}]
chr8	GH08I019940	19940570	19940800	1.22	[{'connected_gene': 'GC08M019933', 'score': 0.44}, {'connected_gene': 'LOC105379309', 'score': 0.37}, {'connected_gene': 'LPL', 'score': 0.28}]