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
ENST00000269216	[[19749403, 19749643], [19751068, 19752240], [19756915, 19757082], [19761413, 19761539], [19762717, 19762805], [19762900, 19763004], [19780618, 19782491]]	[[19751105, 19752240], [19756915, 19757082], [19761413, 19761539], [19762717, 19762805], [19762900, 19763004], [19780618, 19780786]]
ENST00000581694	[[19750893, 19752240], [19756915, 19757082], [19761413, 19761539], [19762717, 19762805], [19762900, 19763004], [19780618, 19780843]]	[[19751105, 19752240], [19756915, 19757082], [19761413, 19761539], [19762717, 19762805], [19762900, 19763004], [19780618, 19780786]]
NM_005257	[[19749397, 19749643], [19751068, 19752240], [19756915, 19757082], [19761413, 19761539], [19762717, 19762805], [19762900, 19763004], [19780618, 19782491]]	[[19751105, 19752240], [19756915, 19757082], [19761413, 19761539], [19762717, 19762805], [19762900, 19763004], [19780618, 19780786]]

Promoter

Chrom	Start	End	Description
chr18	19749353	19749367	CAGE_peak_4_at_GATA6_5end
chr18	19749386	19749404	CAGE_peak_2_at_GATA6_5end
chr18	19749504	19749515	CAGE_peak_5_at_GATA6_5end
chr18	19749517	19749531	CAGE_peak_3_at_GATA6_5end
chr18	19749541	19749557	CAGE_peak_1_at_GATA6_5end
chr18	19750951	19750980	CAGE_peak_10_at_GATA6_5end
chr18	19751305	19751324	CAGE_peak_9_at_GATA6_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr18	GH18I022556	22556156	22561494	1.7	[{'connected_gene': 'GATA6', 'score': 4.38}, {'connected_gene': 'RPS4XP18', 'score': 0.31}, {'connected_gene': 'GC18P022454', 'score': 0.15}]
chr18	GH18I022163	22163305	22199675	3.14	[{'connected_gene': 'GATA6', 'score': 559.78}, {'connected_gene': 'RNU6-702P', 'score': 550.77}, {'connected_gene': 'GC18M022181', 'score': 550.77}, {'connected_gene': 'ESCO1', 'score': 25.37}, {'connected_gene': 'RBBP8', 'score': 12.07}, {'connected_gene': 'MIB1', 'score': 11.2}, {'connected_gene': 'SNRPD1', 'score': 10.26}, {'connected_gene': 'LOC105372019', 'score': 5.69}, {'connected_gene': 'ENSG00000264012', 'score': 0.77}, {'connected_gene': 'GATA6-AS1', 'score': 0.39}, {'connected_gene': 'GC18M022162', 'score': 0.37}, {'connected_gene': 'ENSG00000266283', 'score': 0.34}]
chr18	GH18I022114	22114481	22116949	0.88	[{'connected_gene': 'GATA6', 'score': 10.8}, {'connected_gene': 'RNU6ATAC20P', 'score': 0.37}, {'connected_gene': 'ENSG00000263588', 'score': 0.31}]
chr18	GH18I022465	22465444	22472941	2.05	[{'connected_gene': 'ESCO1', 'score': 13.22}, {'connected_gene': 'MIB1', 'score': 10.2}, {'connected_gene': 'GATA6', 'score': 1.48}, {'connected_gene': 'GC18P022454', 'score': 0.39}, {'connected_gene': 'RPS4XP18', 'score': 0.13}]
chr18	GH18I022201	22201711	22204178	0.54	[{'connected_gene': 'RNU6-702P', 'score': 11.79}, {'connected_gene': 'GATA6', 'score': 11.3}, {'connected_gene': 'ENSG00000266283', 'score': 0.77}]
chr18	GH18I022199	22199991	22201308	0.2	[{'connected_gene': 'RNU6-702P', 'score': 11.3}, {'connected_gene': 'GATA6', 'score': 11.3}, {'connected_gene': 'ENSG00000266283', 'score': 0.77}]
chr18	GH18I022204	22204811	22206109	0.4	[{'connected_gene': 'ENSG00000266283', 'score': 550.77}, {'connected_gene': 'RNU6-702P', 'score': 11.77}, {'connected_gene': 'GATA6', 'score': 11.28}, {'connected_gene': 'GC18M022209', 'score': 0.44}]
chr18	GH18I022207	22207118	22207267	0.58	[{'connected_gene': 'ENSG00000266283', 'score': 550.77}, {'connected_gene': 'RNU6-702P', 'score': 11.77}, {'connected_gene': 'GATA6', 'score': 11.28}, {'connected_gene': 'GC18M022209', 'score': 0.77}]
chr18	GH18I022208	22208953	22214899	1	[{'connected_gene': 'GC18M022209', 'score': 550.77}, {'connected_gene': 'LOC105372017', 'score': 550.77}, {'connected_gene': 'RNU6-702P', 'score': 11.75}, {'connected_gene': 'GATA6', 'score': 11.45}]