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
ENST00000409271	[[109510926, 109513685], [109522763, 109522824], [109524315, 109524475], [109526915, 109526988], [109527231, 109527528], [109529133, 109529220], [109539823, 109539909], [109545653, 109545835], [109546575, 109546698], [109547419, 109547488], [109556666, 109556782], [109605415, 109605725]]	[[109513362, 109513685], [109522763, 109522824], [109524315, 109524475], [109526915, 109526988], [109527231, 109527528], [109529133, 109529220], [109539823, 109539909], [109545653, 109545835], [109546575, 109546698], [109547419, 109547470]]
ENST00000258443	[[109510926, 109513685], [109522763, 109522824], [109524315, 109524475], [109526915, 109526988], [109527231, 109527306], [109527402, 109527528], [109529133, 109529220], [109539823, 109539909], [109545653, 109545835], [109546575, 109546698], [109547419, 109547488], [109605415, 109605828]]	[[109513362, 109513685], [109522763, 109522824], [109524315, 109524475], [109526915, 109526988], [109527231, 109527306], [109527402, 109527528], [109529133, 109529220], [109539823, 109539909], [109545653, 109545835], [109546575, 109546698], [109547419, 109547470]]
ENST00000376651	[[109510933, 109513685], [109522763, 109522824], [109524315, 109524475], [109526915, 109526988], [109527231, 109527528], [109529133, 109529220], [109539823, 109539909], [109545653, 109545835], [109546575, 109546698], [109547419, 109547488], [109605415, 109605828]]	[[109513362, 109513685], [109522763, 109522824], [109524315, 109524475], [109526915, 109526988], [109527231, 109527528], [109529133, 109529220], [109539823, 109539909], [109545653, 109545835], [109546575, 109546698], [109547419, 109547470]]
NM_022336	[[109510926, 109513685], [109522763, 109522824], [109524315, 109524475], [109526915, 109526988], [109527231, 109527306], [109527402, 109527528], [109529133, 109529220], [109539823, 109539909], [109545653, 109545835], [109546575, 109546698], [109547419, 109547488], [109605415, 109605828]]	[[109513362, 109513685], [109522763, 109522824], [109524315, 109524475], [109526915, 109526988], [109527231, 109527306], [109527402, 109527528], [109529133, 109529220], [109539823, 109539909], [109545653, 109545835], [109546575, 109546698], [109547419, 109547470]]

Promoter

Chrom	Start	End	Description
chr2	109605543	109605554	CAGE_peak_4_at_EDAR_5end
chr2	109605568	109605573	CAGE_peak_6_at_EDAR_5end
chr2	109605588	109605606	CAGE_peak_2_at_EDAR_5end
chr2	109605616	109605626	CAGE_peak_5_at_EDAR_5end
chr2	109605635	109605649	CAGE_peak_3_at_EDAR_5end
chr2	109605663	109605718	CAGE_peak_1_at_EDAR_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr2	GH02I108916	108916047	108918008	0.46	[{'connected_gene': 'GCC2', 'score': 5.72}, {'connected_gene': 'CCDC138', 'score': 5.02}, {'connected_gene': 'GC02M108928', 'score': 0.39}, {'connected_gene': 'PIR56059', 'score': 0.34}, {'connected_gene': 'EDAR', 'score': 0.19}]
chr2	GH02I108925	108925843	108927441	0.31	[{'connected_gene': 'GCC2', 'score': 5.01}, {'connected_gene': 'GC02M108928', 'score': 0.77}, {'connected_gene': 'PIR56059', 'score': 0.29}, {'connected_gene': 'EDAR', 'score': 0.21}]
chr2	GH02I108971	108971023	108972924	0.87	[{'connected_gene': 'GCC2', 'score': 4.29}, {'connected_gene': 'PIR32838', 'score': 0.39}, {'connected_gene': 'EDAR', 'score': 0.37}, {'connected_gene': 'GC02M108928', 'score': 0.26}]
chr2	GH02I108923	108923165	108923294	0.51	[{'connected_gene': 'CCDC138', 'score': 4.18}, {'connected_gene': 'GC02M108928', 'score': 0.44}, {'connected_gene': 'PIR56059', 'score': 0.31}, {'connected_gene': 'EDAR', 'score': 0.2}]
chr2	GH02I108932	108932478	108936479	0.69	[{'connected_gene': 'EDAR', 'score': 11.28}, {'connected_gene': 'SULT1C4', 'score': 5.5}, {'connected_gene': 'GC02M108928', 'score': 0.77}, {'connected_gene': 'PIR32838', 'score': 0.25}]
chr2	GH02I109061	109061691	109063562	0.54	[{'connected_gene': 'EDAR', 'score': 10.75}, {'connected_gene': 'LOC105373543', 'score': 0.44}, {'connected_gene': 'PIR45653', 'score': 0.2}]
chr2	GH02I108942	108942447	108946889	0.56	[{'connected_gene': 'EDAR', 'score': 11.42}, {'connected_gene': 'GC02M108928', 'score': 0.39}, {'connected_gene': 'PIR32838', 'score': 0.28}]
chr2	GH02I108972	108972941	108973000	0.7	[{'connected_gene': 'EDAR', 'score': 550.37}, {'connected_gene': 'PIR32838', 'score': 0.44}, {'connected_gene': 'GC02M108928', 'score': 0.26}]
chr2	GH02I108988	108988801	108989522	0.56	[{'connected_gene': 'EDAR', 'score': 550.77}, {'connected_gene': 'PIR32838', 'score': 0.44}]
chr2	GH02I108890	108890041	108890260	0.37	[{'connected_gene': 'PIR52808', 'score': 550.77}, {'connected_gene': 'EDAR', 'score': 8.95}, {'connected_gene': 'CCDC138', 'score': 2.39}, {'connected_gene': 'LIMS1', 'score': 1.28}, {'connected_gene': 'GC02M108869', 'score': 0.77}, {'connected_gene': 'RPL39P16', 'score': 0.39}]
chr2	GH02I108957	108957064	108957845	0.82	[{'connected_gene': 'PIR32838', 'score': 0.31}, {'connected_gene': 'GC02M108928', 'score': 0.31}, {'connected_gene': 'EDAR', 'score': 0.29}]
chr2	GH02I108958	108958065	108958294	0.66	[{'connected_gene': 'PIR32838', 'score': 0.34}, {'connected_gene': 'GC02M108928', 'score': 0.31}, {'connected_gene': 'EDAR', 'score': 0.29}]
chr2	GH02I108922	108922225	108922374	0.4	[{'connected_gene': 'GC02M108928', 'score': 0.44}, {'connected_gene': 'PIR56059', 'score': 0.31}, {'connected_gene': 'EDAR', 'score': 0.2}]
chr2	GH02I108992	108992543	108994620	0.74	[{'connected_gene': 'PIR45653', 'score': 550.77}, {'connected_gene': 'EDAR', 'score': 0.77}]
chr2	GH02I108968	108968298	108969504	0.75	[{'connected_gene': 'PIR32838', 'score': 0.39}, {'connected_gene': 'EDAR', 'score': 0.34}, {'connected_gene': 'GC02M108928', 'score': 0.28}]
chr2	GH02I108953	108953084	108953747	0.2	[{'connected_gene': 'GC02M108928', 'score': 0.34}, {'connected_gene': 'PIR32838', 'score': 0.31}, {'connected_gene': 'EDAR', 'score': 0.28}]
chr2	GH02I108976	108976092	108976682	0.71	[{'connected_gene': 'PIR32838', 'score': 0.44}, {'connected_gene': 'EDAR', 'score': 0.39}, {'connected_gene': 'GC02M108928', 'score': 0.25}]