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
ENST00000374847	[[104235452, 104239451], [104242952, 104243007], [104249230, 104249399]]	[[104238162, 104239374]]
ENST00000374848	[[104235452, 104239451], [104249230, 104249475]]	[[104238162, 104239374]]
ENST00000374851	[[104235452, 104239451], [104251395, 104251482], [104293629, 104293841], [104294958, 104295730]]	[[104238162, 104239374]]
ENST00000482920	[[104293516, 104293841], [104295734, 104295819]]	None
NM_001303108	[[104235439, 104239451], [104248849, 104249052]]	[[104238162, 104239374]]
NM_001303107	[[104235439, 104239451], [104242952, 104243007], [104249230, 104249503]]	[[104238162, 104239374]]
NM_032342	[[104235439, 104239451], [104249230, 104249503]]	[[104238162, 104239374]]

Promoter

Chrom	Start	End	Description
chr9	104249319	104249398	CAGE_peak_2_at_C9orf125_5end
chr9	104249400	104249512	CAGE_peak_1_at_C9orf125_5end
chr9	104295964	104295975	CAGE_peak_7_at_C9orf125_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr9	GH09I101452	101452753	101454568	0.51	[{'connected_gene': 'TMEM246', 'score': 11.08}, {'connected_gene': 'RNF20', 'score': 11.07}, {'connected_gene': 'ZNF189', 'score': 10.81}, {'connected_gene': 'MRPL50', 'score': 10.8}, {'connected_gene': 'ALDOB', 'score': 8.51}, {'connected_gene': 'LOC105376184', 'score': 0.39}, {'connected_gene': 'TMEM246-AS1', 'score': 0.39}]
chr9	GH09I101569	101569397	101570711	0.52	[{'connected_gene': 'TMEM246', 'score': 10.92}, {'connected_gene': 'RNF20', 'score': 10.92}, {'connected_gene': 'PPP3R2', 'score': 10.92}, {'connected_gene': 'PIR43226', 'score': 0.34}, {'connected_gene': 'GRIN3A', 'score': 0.1}]
chr9	GH09I101465	101465201	101466088	0.92	[{'connected_gene': 'TMEM246', 'score': 24.08}, {'connected_gene': 'RNF20', 'score': 11.24}, {'connected_gene': 'TMEM246-AS1', 'score': 0.77}, {'connected_gene': 'LOC105376184', 'score': 0.34}]
chr9	GH09I101459	101459000	101459268	0.92	[{'connected_gene': 'TMEM246', 'score': 12.11}, {'connected_gene': 'RNF20', 'score': 12.11}, {'connected_gene': 'TMEM246-AS1', 'score': 0.44}, {'connected_gene': 'LOC105376184', 'score': 0.37}]
chr9	GH09I101532	101532803	101534837	2	[{'connected_gene': 'TMEM246', 'score': 550.77}, {'connected_gene': 'RNF20', 'score': 550.77}, {'connected_gene': 'TMEM246-AS1', 'score': 6.93}]
chr9	GH09I101482	101482365	101482538	0.2	[{'connected_gene': 'TMEM246', 'score': 10.85}, {'connected_gene': 'RNF20', 'score': 10.85}, {'connected_gene': 'GC09M101474', 'score': 0.44}, {'connected_gene': 'ENSG00000233055', 'score': 0.37}]
chr9	GH09I101485	101485582	101488536	2.19	[{'connected_gene': 'TMEM246', 'score': 559.49}, {'connected_gene': 'TMEM246-AS1', 'score': 7.0}, {'connected_gene': 'RNF20', 'score': 6.09}, {'connected_gene': 'ENSG00000233055', 'score': 0.39}, {'connected_gene': 'GC09M101474', 'score': 0.39}]
chr9	GH09I101478	101478296	101482047	0.56	[{'connected_gene': 'TMEM246', 'score': 42.88}, {'connected_gene': 'TMEM246-AS1', 'score': 16.02}, {'connected_gene': 'RNF20', 'score': 11.57}, {'connected_gene': 'GC09M101474', 'score': 0.44}, {'connected_gene': 'ENSG00000233055', 'score': 0.34}]
chr9	GH09I101460	101460937	101461364	0.38	[{'connected_gene': 'BAAT', 'score': 5.01}, {'connected_gene': 'ZNF189', 'score': 2.35}, {'connected_gene': 'TMEM246', 'score': 1.55}, {'connected_gene': 'TMEM246-AS1', 'score': 0.44}, {'connected_gene': 'LOC105376184', 'score': 0.37}]
chr9	GH09I101430	101430945	101451831	2.43	[{'connected_gene': 'ALDOB', 'score': 558.57}, {'connected_gene': 'LOC105376184', 'score': 550.77}, {'connected_gene': 'ZNF189', 'score': 16.37}, {'connected_gene': 'TMEM246', 'score': 11.36}, {'connected_gene': 'RNF20', 'score': 11.36}, {'connected_gene': 'MRPL50', 'score': 11.18}, {'connected_gene': 'TMEM246-AS1', 'score': 10.91}, {'connected_gene': 'BAAT', 'score': 5.56}]
chr9	GH09I101530	101530219	101530368	0.69	[{'connected_gene': 'TMEM246-AS1', 'score': 10.83}, {'connected_gene': 'TMEM246', 'score': 0.77}, {'connected_gene': 'ENSG00000233055', 'score': 0.31}]
chr9	GH09I101513	101513679	101513828	0.43	[{'connected_gene': 'TMEM246-AS1', 'score': 10.84}, {'connected_gene': 'ENSG00000233055', 'score': 0.39}, {'connected_gene': 'TMEM246', 'score': 0.37}]
chr9	GH09I101514	101514239	101514388	0.43	[{'connected_gene': 'TMEM246-AS1', 'score': 10.84}, {'connected_gene': 'ENSG00000233055', 'score': 0.39}, {'connected_gene': 'TMEM246', 'score': 0.37}]
chr9	GH09I101515	101513459	101513648	0.43	[{'connected_gene': 'TMEM246-AS1', 'score': 17.65}, {'connected_gene': 'ENSG00000233055', 'score': 0.39}, {'connected_gene': 'TMEM246', 'score': 0.37}]