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
ENST00000380394	[[19375712, 19376386], [19376491, 19376649], [19378365, 19378512], [19378705, 19378916], [19379484, 19379616], [19380187, 19380252]]	[[19376290, 19376386], [19376491, 19376649], [19378365, 19378512], [19378705, 19378916], [19379484, 19379616], [19380187, 19380193]]
ENST00000498815	[[19376252, 19376386], [19376491, 19376837]]	None
ENST00000380384	[[19376267, 19376386], [19376491, 19376649], [19378365, 19378512], [19378705, 19378916], [19379484, 19380204]]	[[19376290, 19376386], [19376491, 19376649], [19378365, 19378512], [19378705, 19378916], [19379484, 19379529]]
ENST00000315377	[[19376282, 19376386], [19376491, 19376649], [19378365, 19378512], [19378705, 19378916], [19379484, 19379616], [19380085, 19380196]]	[[19376290, 19376386], [19376491, 19376649], [19378365, 19378512], [19378705, 19378916], [19379484, 19379529]]
ENST00000380381	[[19378771, 19379616], [19380187, 19380234]]	[[19379346, 19379616], [19380187, 19380193]]
NM_001010	[[19376253, 19376386], [19376491, 19376649], [19378365, 19378512], [19378705, 19378916], [19379484, 19379616], [19380187, 19380235]]	[[19376290, 19376386], [19376491, 19376649], [19378365, 19378512], [19378705, 19378916], [19379484, 19379616], [19380187, 19380193]]

Promoter

Chrom	Start	End	Description
chr9	19379543	19379575	CAGE_peak_2_at_RPS6_5end
chr9	19380220	19380245	CAGE_peak_1_at_RPS6_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr9	GH09I019377	19377405	19381640	2.1	[{'connected_gene': 'RPS6', 'score': 577.63}, {'connected_gene': 'GC09M019381', 'score': 550.77}, {'connected_gene': 'GC09M019380', 'score': 550.77}, {'connected_gene': 'ENSG00000273226', 'score': 22.38}, {'connected_gene': 'DENND4C', 'score': 13.73}, {'connected_gene': 'SCARNA8', 'score': 11.47}]
chr9	GH09I019441	19441167	19442406	0.66	[{'connected_gene': 'RPS6', 'score': 18.51}, {'connected_gene': 'NDUFA5P3', 'score': 11.64}, {'connected_gene': 'HAUS6', 'score': 10.14}, {'connected_gene': 'ENSG00000260912', 'score': 0.39}, {'connected_gene': 'PIR51132', 'score': 0.31}, {'connected_gene': 'ACER2', 'score': 0.28}]
chr9	GH09I018726	18726086	18727998	0.62	[{'connected_gene': 'DENND4C', 'score': 23.23}, {'connected_gene': 'ENSG00000273226', 'score': 22.61}, {'connected_gene': 'SCARNA8', 'score': 13.32}, {'connected_gene': 'HAUS6', 'score': 11.91}, {'connected_gene': 'RPS6', 'score': 9.84}, {'connected_gene': 'RAP1BP1', 'score': 8.16}, {'connected_gene': 'LOC105375985', 'score': 0.09}, {'connected_gene': 'ADAMTSL1', 'score': 0.03}]
chr9	GH09I019173	19173602	19174932	1.4	[{'connected_gene': 'DENND4C', 'score': 44.05}, {'connected_gene': 'SCARNA8', 'score': 31.54}, {'connected_gene': 'HAUS6', 'score': 22.02}, {'connected_gene': 'ENSG00000273226', 'score': 19.79}, {'connected_gene': 'ENSG00000272842', 'score': 13.7}, {'connected_gene': 'PLIN2', 'score': 12.24}, {'connected_gene': 'RPS6', 'score': 11.96}, {'connected_gene': 'SAXO1', 'score': 10.77}, {'connected_gene': 'PSMC3P1', 'score': 10.75}, {'connected_gene': 'RPS6P10', 'score': 0.31}]
chr9	GH09I019250	19250116	19251364	0.38	[{'connected_gene': 'DENND4C', 'score': 12.56}, {'connected_gene': 'ENSG00000273226', 'score': 9.73}, {'connected_gene': 'RPS6', 'score': 5.6}, {'connected_gene': 'GC09P019231', 'score': 0.37}, {'connected_gene': 'ENSG00000232978', 'score': 0.26}]
chr9	GH09I019101	19101206	19103700	2.01	[{'connected_gene': 'HAUS6', 'score': 559.3}, {'connected_gene': 'RPS6', 'score': 10.29}, {'connected_gene': 'DENND4C', 'score': 9.94}, {'connected_gene': 'PLIN2', 'score': 5.25}, {'connected_gene': 'ENSG00000201118', 'score': 0.39}]
chr9	GH09I019445	19445063	19447280	0.43	[{'connected_gene': 'HAUS6', 'score': 10.88}, {'connected_gene': 'RPS6', 'score': 6.32}, {'connected_gene': 'RRAGA', 'score': 5.1}, {'connected_gene': 'ENSG00000260912', 'score': 0.44}, {'connected_gene': 'PIR51132', 'score': 0.31}, {'connected_gene': 'ACER2', 'score': 0.26}]
chr9	GH09I019375	19375955	19376783	0.31	[{'connected_gene': 'ENSG00000273226', 'score': 565.13}, {'connected_gene': 'RPS6', 'score': 6.29}, {'connected_gene': 'GC09M019381', 'score': 0.77}, {'connected_gene': 'GC09M019380', 'score': 0.77}]
chr9	GH09I019378	19377163	19377312	0.49	[{'connected_gene': 'ENSG00000273226', 'score': 550.77}, {'connected_gene': 'GC09M019381', 'score': 0.77}, {'connected_gene': 'GC09M019380', 'score': 0.77}, {'connected_gene': 'RPS6', 'score': 0.77}]
chr9	GH09I018975	18975795	18977507	1.2	[{'connected_gene': 'ENSG00000273226', 'score': 79.37}, {'connected_gene': 'DENND4C', 'score': 76.2}, {'connected_gene': 'RPS6P10', 'score': 47.41}, {'connected_gene': 'ENSG00000272842', 'score': 31.11}, {'connected_gene': 'RPS6', 'score': 26.38}, {'connected_gene': 'HAUS6', 'score': 23.48}, {'connected_gene': 'SCARNA8', 'score': 13.44}, {'connected_gene': 'RRAGA', 'score': 9.92}, {'connected_gene': 'PIR34932', 'score': 0.44}, {'connected_gene': 'SAXO1', 'score': 0.19}, {'connected_gene': 'LOC105375985', 'score': 0.18}]