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
ENST00000297540	[[125935959, 125936750], [125939261, 125939875], [125944055, 125944176], [125952941, 125953025], [125960266, 125962944]]	[[125936654, 125936750], [125939261, 125939875], [125944055, 125944176], [125952941, 125953025], [125960266, 125960536]]
ENST00000511371	[[125944048, 125944176], [125952941, 125953025], [125960266, 125960901]]	None
ENST00000513813	[[125952926, 125953025], [125960266, 125961170]]	None
ENST00000514725	[[125936616, 125936750], [125939265, 125939756]]	None
ENST00000505674	[[125939252, 125939875], [125944055, 125944176], [125952941, 125953025]]	None
NM_032177	[[125936606, 125936750], [125939261, 125939875], [125944055, 125944176], [125952941, 125953025], [125960266, 125962944]]	[[125936654, 125936750], [125939261, 125939875], [125944055, 125944176], [125952941, 125953025], [125960266, 125960536]]

Promoter

Chrom	Start	End	Description
chr5	125936606	125936664	CAGE_peak_1_at_PHAX_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr5	GH05I126664	126664154	126665673	0.38	[{'connected_gene': 'BOLA3P3', 'score': 550.77}, {'connected_gene': 'GC05M126665', 'score': 550.77}, {'connected_gene': 'ALDH7A1', 'score': 18.57}, {'connected_gene': 'TEX43', 'score': 12.44}, {'connected_gene': 'RPLP1P7', 'score': 12.42}, {'connected_gene': 'PHAX', 'score': 12.36}, {'connected_gene': 'LOC105379162', 'score': 0.39}]
chr5	GH05I126599	126599089	126602379	2.05	[{'connected_gene': 'PHAX', 'score': 550.77}, {'connected_gene': 'ALDH7A1', 'score': 7.92}, {'connected_gene': 'GC05M126628', 'score': 0.31}]
chr5	GH05I126875	126875094	126876078	0.87	[{'connected_gene': 'PHAX', 'score': 11.06}, {'connected_gene': 'MARCH3', 'score': 10.39}, {'connected_gene': 'CCDC192', 'score': 10.05}, {'connected_gene': 'GC05M126868', 'score': 0.44}, {'connected_gene': 'GC05M127022', 'score': 0.1}]
chr5	GH05I126747	126747389	126749281	1.4	[{'connected_gene': 'PHAX', 'score': 21.48}, {'connected_gene': 'LMNB1-DT', 'score': 12.47}, {'connected_gene': 'LMNB1', 'score': 12.47}, {'connected_gene': 'ALDH7A1', 'score': 4.98}, {'connected_gene': 'GC05P126739', 'score': 0.44}, {'connected_gene': 'RNU6-752P', 'score': 0.44}]
chr5	GH05I126543	126543434	126544362	0.92	[{'connected_gene': 'ALDH7A1', 'score': 15.78}, {'connected_gene': 'PHAX', 'score': 11.23}, {'connected_gene': 'RPLP1P7', 'score': 11.19}, {'connected_gene': 'TEX43', 'score': 11.18}, {'connected_gene': 'ENSG00000250602', 'score': 10.78}, {'connected_gene': 'GRAMD2B', 'score': 10.63}, {'connected_gene': 'GC05M126556', 'score': 0.44}, {'connected_gene': 'ENSG00000279118', 'score': 0.25}]
chr5	GH05I126596	126596551	126597898	0.69	[{'connected_gene': 'ALDH7A1', 'score': 565.8}, {'connected_gene': 'PHAX', 'score': 0.77}]
chr5	GH05I126622	126622922	126625944	0.91	[{'connected_gene': 'ALDH7A1', 'score': 7.45}, {'connected_gene': 'GC05M126628', 'score': 0.77}, {'connected_gene': 'PHAX', 'score': 0.34}]
chr5	GH05I126660	126660201	126660551	0.2	[{'connected_gene': 'TEX43', 'score': 12.46}, {'connected_gene': 'RPLP1P7', 'score': 12.44}, {'connected_gene': 'PHAX', 'score': 12.36}, {'connected_gene': 'ALDH7A1', 'score': 12.36}, {'connected_gene': 'RNU6-752P', 'score': 10.43}, {'connected_gene': 'GC05M126665', 'score': 0.77}]
chr5	GH05I126759	126759808	126763556	1.51	[{'connected_gene': 'PRRC1', 'score': 21.04}, {'connected_gene': 'CCDC192', 'score': 12.1}, {'connected_gene': 'PHAX', 'score': 10.57}, {'connected_gene': 'ALDH7A1', 'score': 6.34}, {'connected_gene': 'RNU6-752P', 'score': 0.44}, {'connected_gene': 'LMNB1', 'score': 0.39}, {'connected_gene': 'LMNB1-DT', 'score': 0.37}]
chr5	GH05I127206	127206349	127206558	0.9	[{'connected_gene': 'PRRC1', 'score': 13.03}, {'connected_gene': 'LINC01184', 'score': 11.54}, {'connected_gene': 'PHAX', 'score': 11.02}, {'connected_gene': 'PIR43801', 'score': 0.44}, {'connected_gene': 'GC05M127173', 'score': 0.39}]
chr5	GH05I127357	127357695	127359709	0.54	[{'connected_gene': 'PRRC1', 'score': 15.53}, {'connected_gene': 'PHAX', 'score': 10.5}, {'connected_gene': 'MARCH3', 'score': 7.51}, {'connected_gene': 'LOC105379199', 'score': 0.2}, {'connected_gene': 'ENSG00000249577', 'score': 0.14}, {'connected_gene': 'MEGF10', 'score': 0.13}]
chr5	GH05I126982	126982883	126983870	0.52	[{'connected_gene': 'MARCH3', 'score': 11.98}, {'connected_gene': 'PHAX', 'score': 4.44}, {'connected_gene': 'GC05M127022', 'score': 0.26}, {'connected_gene': 'GC05M126868', 'score': 0.14}]
chr5	GH05I126787	126787646	126792088	0.68	[{'connected_gene': 'RNU6-752P', 'score': 11.62}, {'connected_gene': 'PHAX', 'score': 10.56}, {'connected_gene': 'MARCH3', 'score': 10.19}, {'connected_gene': 'CCDC192', 'score': 10.09}, {'connected_gene': 'ALDH7A1', 'score': 5.16}, {'connected_gene': 'LMNB1', 'score': 0.39}, {'connected_gene': 'LMNB1-DT', 'score': 0.39}, {'connected_gene': 'GC05M126868', 'score': 0.18}]