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
ENST00000464792	[[18118761, 18119088], [18122851, 18123473]]	[[18123304, 18123473]]
ENST00000489422	[[18118849, 18118979], [18122851, 18123101]]	None
ENST00000484001	[[18118849, 18119043], [18122851, 18123190]]	None
ENST00000492286	[[18118880, 18119148], [18122851, 18123065]]	None
ENST00000435364	[[18122963, 18123563], [18125876, 18125995], [18131464, 18131586], [18139727, 18139909], [18142463, 18142883], [18143020, 18143589], [18162353, 18162490], [18163766, 18163942], [18165245, 18165436], [18167929, 18169031]]	[[18123304, 18123563], [18125876, 18125995], [18131464, 18131586], [18139727, 18139909], [18142463, 18142883], [18143020, 18143589], [18162353, 18162490], [18163766, 18163942], [18165245, 18165436], [18167929, 18168103]]
ENST00000377681	[[18123095, 18123563], [18125876, 18125995], [18131464, 18131586], [18139727, 18139909], [18142466, 18142883], [18143020, 18143589], [18162353, 18162490], [18163766, 18163942], [18165245, 18165436], [18167929, 18169031]]	[[18123304, 18123563], [18125876, 18125995], [18131464, 18131586], [18139727, 18139909], [18142466, 18142883], [18143020, 18143589], [18162353, 18162490], [18163766, 18163942], [18165245, 18165436], [18167929, 18168103]]
ENST00000489634	[[18125742, 18125995], [18131464, 18131586], [18139727, 18139909], [18142463, 18142883], [18143020, 18143589], [18162353, 18162490], [18163766, 18163942], [18165245, 18165436], [18167929, 18169031]]	[[18131470, 18131586], [18139727, 18139909], [18142463, 18142883], [18143020, 18143589], [18162353, 18162490], [18163766, 18163942], [18165245, 18165436], [18167929, 18168103]]
NM_020536	[[18122867, 18123563], [18125876, 18125995], [18131464, 18131586], [18139727, 18139909], [18142463, 18142883], [18143020, 18143589], [18162353, 18162490], [18163766, 18163942], [18165245, 18165436], [18167929, 18169031]]	[[18123304, 18123563], [18125876, 18125995], [18131464, 18131586], [18139727, 18139909], [18142463, 18142883], [18143020, 18143589], [18162353, 18162490], [18163766, 18163942], [18165245, 18165436], [18167929, 18168103]]
NR_028402	[[18125742, 18125995], [18131464, 18131586], [18139727, 18139909], [18142463, 18142883], [18143020, 18143589], [18162353, 18162490], [18163766, 18163942], [18165245, 18165436], [18167929, 18169031]]	None

Promoter

Chrom	Start	End	Description
chr20	18118486	18118525	CAGE_peak_1_at_CSRP2BP_5end
chr20	18118529	18118555	CAGE_peak_2_at_CSRP2BP_5end
chr20	18118703	18118767	CAGE_peak_3_at_CSRP2BP_5end
chr20	18125679	18125686	CAGE_peak_7_at_CSRP2BP_5end
chr20	18125727	18125755	CAGE_peak_4_at_CSRP2BP_5end
chr20	18125925	18125964	CAGE_peak_5_at_CSRP2BP_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr20	GH20I018251	18251569	18254123	0.8	[{'connected_gene': 'KAT14', 'score': 5.12}, {'connected_gene': 'RN7SL14P', 'score': 0.44}, {'connected_gene': 'GC20P018220', 'score': 0.29}, {'connected_gene': 'LOC100529052', 'score': 0.29}]
chr20	GH20I018176	18176357	18176506	0.77	[{'connected_gene': 'KAT14', 'score': 0.28}, {'connected_gene': 'GC20P018220', 'score': 0.26}, {'connected_gene': 'LOC100529052', 'score': 0.26}]
chr20	GH20I018136	18136774	18140461	2.26	[{'connected_gene': 'KAT14', 'score': 556.69}, {'connected_gene': 'PET117', 'score': 550.77}, {'connected_gene': 'ZNF133', 'score': 21.76}, {'connected_gene': 'LOC100270804', 'score': 9.87}, {'connected_gene': 'LOC100286962', 'score': 9.84}, {'connected_gene': 'GC20P018220', 'score': 0.18}, {'connected_gene': 'LOC100529052', 'score': 0.18}]
chr20	GH20I018143	18143806	18146261	0.75	[{'connected_gene': 'SNX5', 'score': 5.3}, {'connected_gene': 'KAT14', 'score': 0.44}, {'connected_gene': 'GC20P018220', 'score': 0.18}, {'connected_gene': 'LOC100529052', 'score': 0.18}]
chr20	GH20I018185	18185881	18188085	0.31	[{'connected_gene': 'SEC23B', 'score': 4.82}, {'connected_gene': 'SNX5', 'score': 4.45}, {'connected_gene': 'GC20P018220', 'score': 0.29}, {'connected_gene': 'LOC100529052', 'score': 0.29}, {'connected_gene': 'KAT14', 'score': 0.25}]
chr20	GH20I018197	18197155	18199732	0.43	[{'connected_gene': 'SEC23B', 'score': 4.57}, {'connected_gene': 'GC20P018220', 'score': 0.34}, {'connected_gene': 'LOC100529052', 'score': 0.34}, {'connected_gene': 'KAT14', 'score': 0.21}]
chr20	GH20I018142	18142232	18142291	0.5	[{'connected_gene': 'PET117', 'score': 0.77}, {'connected_gene': 'KAT14', 'score': 0.77}, {'connected_gene': 'GC20P018220', 'score': 0.18}, {'connected_gene': 'LOC100529052', 'score': 0.18}]