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
ENST00000366711	[[228353515, 228353858], [228362392, 228362730], [228362822, 228369958]]	[[228353517, 228353858], [228362392, 228362730], [228362822, 228363214]]
ENST00000484749	[[228358878, 228361219], [228362392, 228362730], [228362822, 228369958]]	None
ENST00000546123	[[228362250, 228362311], [228362392, 228362730], [228362822, 228363276]]	[[228362630, 228362730], [228362822, 228363214]]
NM_001010867	[[228353508, 228353858], [228362392, 228362730], [228362822, 228369958]]	[[228353517, 228353858], [228362392, 228362730], [228362822, 228363214]]
NM_001310327	[[228362250, 228362311], [228362392, 228362730], [228362822, 228369958]]	[[228362630, 228362730], [228362822, 228363214]]

Promoter

Chrom	Start	End	Description
chr1	228353495	228353516	CAGE_peak_1_at_IBA57_5end
chr1	228362266	228362273	CAGE_peak_3_at_IBA57_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr1	GH01I228185	228185680	228185829	0.46	[{'connected_gene': 'OBSCN', 'score': 12.58}, {'connected_gene': 'OBSCN-AS1', 'score': 12.55}, {'connected_gene': 'PIR41583', 'score': 0.44}, {'connected_gene': 'IBA57', 'score': 0.34}]
chr1	GH01I228180	228180742	228182297	0.46	[{'connected_gene': 'OBSCN', 'score': 44.51}, {'connected_gene': 'OBSCN-AS1', 'score': 17.97}, {'connected_gene': 'PIR41583', 'score': 0.77}, {'connected_gene': 'IBA57', 'score': 0.37}]
chr1	GH01I228173	228173422	228175064	1.23	[{'connected_gene': 'OBSCN', 'score': 24.65}, {'connected_gene': 'OBSCN-AS1', 'score': 5.11}, {'connected_gene': 'PIR60130', 'score': 0.77}, {'connected_gene': 'GC01P228181', 'score': 0.77}, {'connected_gene': 'IBA57', 'score': 0.44}, {'connected_gene': 'GC01P228168', 'score': 0.44}]
chr1	GH01I228196	228196859	228198809	0.51	[{'connected_gene': 'OBSCN', 'score': 39.41}, {'connected_gene': 'PIR41583', 'score': 0.37}, {'connected_gene': 'IBA57', 'score': 0.29}]
chr1	GH01I227942	227942741	227948692	2.17	[{'connected_gene': 'WNT9A', 'score': 550.77}, {'connected_gene': 'OBSCN-AS1', 'score': 12.89}, {'connected_gene': 'WNT3A', 'score': 10.94}, {'connected_gene': 'OBSCN', 'score': 9.02}, {'connected_gene': 'IBA57', 'score': 7.69}, {'connected_gene': 'ENSG00000269934', 'score': 6.71}, {'connected_gene': 'MRPL55', 'score': 4.16}, {'connected_gene': 'MIR5008', 'score': 0.77}]
chr1	GH01I228191	228191050	228193725	0.69	[{'connected_gene': 'OBSCN-AS1', 'score': 6.47}, {'connected_gene': 'PIR41583', 'score': 0.39}, {'connected_gene': 'OBSCN', 'score': 0.37}, {'connected_gene': 'IBA57', 'score': 0.31}]
chr1	GH01I228147	228147835	228152867	1.96	[{'connected_gene': 'GJC2', 'score': 557.51}, {'connected_gene': 'OBSCN-AS1', 'score': 5.39}, {'connected_gene': 'OBSCN', 'score': 4.84}, {'connected_gene': 'IBA57', 'score': 4.54}, {'connected_gene': 'ENSG00000269934', 'score': 4.13}, {'connected_gene': 'GC01P228162', 'score': 0.39}, {'connected_gene': 'GUK1', 'score': 0.39}]
chr1	GH01I227562	227562920	227564821	2.37	[{'connected_gene': 'ZNF678', 'score': 564.68}, {'connected_gene': 'CICP26', 'score': 39.03}, {'connected_gene': 'C1orf35', 'score': 28.7}, {'connected_gene': 'HIST3H3', 'score': 27.4}, {'connected_gene': 'ENSG00000269890', 'score': 11.3}, {'connected_gene': 'IBA57', 'score': 10.1}, {'connected_gene': 'CDC42BPA', 'score': 4.92}, {'connected_gene': 'SNAP47', 'score': 4.33}, {'connected_gene': 'MRPL57P2', 'score': 0.44}]
chr1	GH01I228161	228161460	228167704	2.61	[{'connected_gene': 'IBA57', 'score': 560.85}, {'connected_gene': 'GC01P228168', 'score': 550.77}, {'connected_gene': 'IBA57-AS1', 'score': 550.77}, {'connected_gene': 'PIR46737', 'score': 550.77}, {'connected_gene': 'OBSCN', 'score': 38.68}, {'connected_gene': 'CICP26', 'score': 20.41}, {'connected_gene': 'ENSG00000269890', 'score': 13.79}, {'connected_gene': 'CDC42BPA', 'score': 10.48}, {'connected_gene': 'HIST3H3', 'score': 10.18}, {'connected_gene': 'C1orf35', 'score': 10.09}, {'connected_gene': 'OBSCN-AS1', 'score': 5.63}, {'connected_gene': 'JMJD4', 'score': 1.35}, {'connected_gene': 'GC01P228162', 'score': 0.77}]
chr1	GH01I227765	227765138	227767000	1.12	[{'connected_gene': 'SNAP47', 'score': 6.98}, {'connected_gene': 'IBA57', 'score': 2.5}, {'connected_gene': 'SNAP47-AS1', 'score': 0.37}, {'connected_gene': 'LOC105373289', 'score': 0.34}]
chr1	GH01I228178	228178104	228179895	1.1	[{'connected_gene': 'PIR41583', 'score': 550.77}, {'connected_gene': 'PIR60130', 'score': 550.77}, {'connected_gene': 'GC01P228181', 'score': 550.77}, {'connected_gene': 'OBSCN', 'score': 31.38}, {'connected_gene': 'GUK1', 'score': 5.88}, {'connected_gene': 'IBA57', 'score': 0.39}]