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
ENST00000383168	[[24432001, 24436453], [24440735, 24440816], [24441094, 24441259], [24442145, 24442560], [24445621, 24445782]]	[[24436174, 24436453], [24440735, 24440816], [24441094, 24441259], [24442145, 24442560], [24445621, 24445653]]
ENST00000581374	[[24435780, 24436453], [24440735, 24440816], [24441094, 24441259], [24442145, 24442812]]	[[24436174, 24436453], [24440735, 24440816], [24441094, 24441259], [24442145, 24442526]]
ENST00000440832	[[24436174, 24436453], [24440735, 24440816], [24441094, 24441259], [24442145, 24442560], [24442925, 24443154]]	[[24436174, 24436453], [24440735, 24440816], [24441094, 24441259], [24442145, 24442526]]
ENST00000583022	[[24436252, 24436453], [24440735, 24440816], [24441094, 24441259], [24441981, 24442140]]	None
ENST00000584088	[[24440654, 24440816], [24441094, 24441259], [24442145, 24442370]]	None
ENST00000578776	[[24440748, 24440816], [24441094, 24441259], [24442145, 24442437], [24445621, 24445671]]	[[24440748, 24440816], [24441094, 24441259], [24442145, 24442437], [24445621, 24445653]]
ENST00000383170	[[24441217, 24441259], [24442145, 24442556], [24445621, 24445735]]	[[24442291, 24442556], [24445621, 24445653]]
NM_004028	[[24432001, 24436453], [24440735, 24440816], [24441094, 24441259], [24442145, 24442874]]	[[24436174, 24436453], [24440735, 24440816], [24441094, 24441259], [24442145, 24442526]]
NM_001317384	[[24432001, 24436453], [24440735, 24440816], [24441094, 24441259], [24442145, 24442560], [24445621, 24445808]]	[[24436087, 24436453], [24440735, 24440816], [24441094, 24441259], [24442145, 24442560], [24445621, 24445653]]
NM_001650	[[24432001, 24436453], [24440735, 24440816], [24441094, 24441259], [24442145, 24442560], [24445621, 24445808]]	[[24436174, 24436453], [24440735, 24440816], [24441094, 24441259], [24442145, 24442560], [24445621, 24445653]]
NM_001317387	[[24432001, 24436453], [24441094, 24441259], [24442145, 24442560], [24445621, 24445808]]	[[24436174, 24436453], [24441094, 24441259], [24442145, 24442560], [24445621, 24445653]]

Promoter

Chrom	Start	End	Description
chr18	24432806	24432814	CAGE_peak_12_at_AQP4_5end
chr18	24433133	24433144	CAGE_peak_10_at_AQP4_5end
chr18	24433287	24433306	CAGE_peak_9_at_AQP4_5end
chr18	24433388	24433397	CAGE_peak_20_at_AQP4_5end
chr18	24433615	24433626	CAGE_peak_11_at_AQP4_5end
chr18	24434129	24434169	CAGE_peak_8_at_AQP4_5end
chr18	24434187	24434198	CAGE_peak_13_at_AQP4_5end
chr18	24434430	24434442	CAGE_peak_15_at_AQP4_5end
chr18	24443096	24443113	CAGE_peak_6_at_AQP4_5end
chr18	24443122	24443142	CAGE_peak_5_at_AQP4_5end
chr18	24443151	24443163	CAGE_peak_7_at_AQP4_5end
chr18	24445664	24445679	CAGE_peak_1_at_AQP4_5end
chr18	24445681	24445692	CAGE_peak_4_at_AQP4_5end
chr18	24445696	24445727	CAGE_peak_2_at_AQP4_5end
chr18	24445729	24445740	CAGE_peak_3_at_AQP4_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr18	GH18I026958	26956430	26956533	0.25	[{'connected_gene': 'AQP4', 'score': 10.13}, {'connected_gene': 'CHST9', 'score': 1.66}, {'connected_gene': 'KCTD1', 'score': 1.63}, {'connected_gene': 'ATP6V1E1P2', 'score': 0.77}, {'connected_gene': 'GC18P026996', 'score': 0.26}, {'connected_gene': 'AQP4-AS1', 'score': 0.06}]
chr18	GH18I026894	26894141	26894511	0.22	[{'connected_gene': 'AQP4', 'score': 11.59}, {'connected_gene': 'CHST9', 'score': 5.6}, {'connected_gene': 'GC18M026877', 'score': 0.39}, {'connected_gene': 'GC18P026935', 'score': 0.26}, {'connected_gene': 'AQP4-AS1', 'score': 0.07}]
chr18	GH18I026776	26776801	26777945	0.84	[{'connected_gene': 'AQP4', 'score': 1.35}, {'connected_gene': 'GC18P026799', 'score': 0.34}, {'connected_gene': 'PCAT18', 'score': 0.19}, {'connected_gene': 'AQP4-AS1', 'score': 0.13}]
chr18	GH18I026865	26865747	26865806	0.92	[{'connected_gene': 'AQP4', 'score': 550.77}, {'connected_gene': 'SS18', 'score': 9.86}, {'connected_gene': 'LOC440489', 'score': 0.29}, {'connected_gene': 'AQP4-AS1', 'score': 0.08}]
chr18	GH18I026862	26862985	26865723	0.99	[{'connected_gene': 'AQP4', 'score': 556.45}, {'connected_gene': 'SS18', 'score': 9.86}, {'connected_gene': 'LOC440489', 'score': 0.29}, {'connected_gene': 'AQP4-AS1', 'score': 0.08}]
chr18	GH18I026866	26866381	26866523	0.22	[{'connected_gene': 'AQP4', 'score': 557.43}, {'connected_gene': 'KCTD1', 'score': 1.59}, {'connected_gene': 'CHST9', 'score': 1.38}, {'connected_gene': 'GC18M026877', 'score': 0.37}, {'connected_gene': 'AQP4-AS1', 'score': 0.08}]
chr18	GH18I026870	26869690	26870011	0.49	[{'connected_gene': 'AQP4', 'score': 8.66}, {'connected_gene': 'GC18M026877', 'score': 0.39}, {'connected_gene': 'AQP4-AS1', 'score': 0.08}]
chr18	GH18I026869	26869117	26869266	0.65	[{'connected_gene': 'AQP4', 'score': 0.77}, {'connected_gene': 'GC18M026877', 'score': 0.39}, {'connected_gene': 'AQP4-AS1', 'score': 0.08}]
chr18	GH18I026875	26875397	26875566	0.76	[{'connected_gene': 'GC18M026877', 'score': 0.44}, {'connected_gene': 'AQP4', 'score': 0.44}, {'connected_gene': 'AQP4-AS1', 'score': 0.08}]