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
ENST00000320431	[[49754266, 49757128]]	[[49755383, 49756898]]
ENST00000535833	[[49754276, 49759316], [49759397, 49759580], [49759663, 49759791], [49759864, 49759943], [49760028, 49760187], [49760404, 49760547], [49760686, 49760735], [49760824, 49760905], [49761030, 49761164], [49761272, 49761349]]	[[49755383, 49756898]]
NM_198722	[[49754266, 49757238]]	[[49755383, 49756898]]

Promoter

Chrom	Start	End	Description
chr3	49757101	49757125	CAGE_peak_2_at_AMIGO3_5end
chr3	49761337	49761421	CAGE_peak_1_at_AMIGO3_5end,CAGE_peak_1_at_GMPPB_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr3	GH03I050257	50257835	50277167	2.77	[{'connected_gene': 'SEMA3B', 'score': 552.55}, {'connected_gene': 'SEMA3B-AS1', 'score': 550.77}, {'connected_gene': 'HYAL3', 'score': 35.46}, {'connected_gene': 'CYB561D2', 'score': 14.99}, {'connected_gene': 'IFRD2', 'score': 13.16}, {'connected_gene': 'GNAI2', 'score': 12.56}, {'connected_gene': 'AMT', 'score': 9.17}, {'connected_gene': 'HYAL1', 'score': 8.54}, {'connected_gene': 'AMIGO3', 'score': 4.76}, {'connected_gene': 'DOCK3', 'score': 3.69}, {'connected_gene': 'PIR52045', 'score': 0.44}, {'connected_gene': 'ENSG00000230454', 'score': 0.44}, {'connected_gene': 'MIR6872', 'score': 0.44}]
chr3	GH03I049686	49686242	49690453	2.25	[{'connected_gene': 'MST1', 'score': 559.59}, {'connected_gene': 'PIR39139', 'score': 550.77}, {'connected_gene': 'RNF123', 'score': 550.77}, {'connected_gene': 'AMT', 'score': 19.19}, {'connected_gene': 'RBM6', 'score': 15.08}, {'connected_gene': 'QRICH1', 'score': 13.66}, {'connected_gene': 'CDHR4', 'score': 12.75}, {'connected_gene': 'AMIGO3', 'score': 12.64}, {'connected_gene': 'GMPPB', 'score': 12.63}, {'connected_gene': 'IMPDH2', 'score': 12.17}, {'connected_gene': 'USP19', 'score': 11.55}, {'connected_gene': 'PHF5EP', 'score': 11.1}, {'connected_gene': 'IP6K1', 'score': 11.08}, {'connected_gene': 'TMEM115', 'score': 10.21}, {'connected_gene': 'APEH', 'score': 7.85}, {'connected_gene': 'PIR43040', 'score': 0.77}, {'connected_gene': 'GC03P049421', 'score': 0.06}]
chr3	GH03I049703	49703528	49703717	0.67	[{'connected_gene': 'RNF123', 'score': 0.39}, {'connected_gene': 'MST1', 'score': 0.39}, {'connected_gene': 'AMIGO3', 'score': 0.37}, {'connected_gene': 'GC03P049421', 'score': 0.06}]
chr3	GH03I049747	49747458	49749338	0.66	[{'connected_gene': 'FAM212A', 'score': 23.41}, {'connected_gene': 'PHF5EP', 'score': 12.44}, {'connected_gene': 'IP6K1', 'score': 12.41}, {'connected_gene': 'GMPPB', 'score': 12.2}, {'connected_gene': 'AMIGO3', 'score': 12.18}, {'connected_gene': 'RNF123', 'score': 12.09}, {'connected_gene': 'BSN-AS1', 'score': 10.23}, {'connected_gene': 'BSN', 'score': 10.17}, {'connected_gene': 'BSN-AS2', 'score': 9.87}, {'connected_gene': 'COX6CP14', 'score': 0.39}, {'connected_gene': 'GC03M049738', 'score': 0.34}, {'connected_gene': 'PIR40022', 'score': 0.34}, {'connected_gene': 'GC03P049421', 'score': 0.05}]
chr3	GH03I049711	49711511	49711981	0.2	[{'connected_gene': 'AMIGO3', 'score': 0.44}, {'connected_gene': 'RNF123', 'score': 0.34}, {'connected_gene': 'MST1', 'score': 0.34}, {'connected_gene': 'GC03P049421', 'score': 0.06}]
chr3	GH03I049719	49718751	49720317	1.76	[{'connected_gene': 'AMIGO3', 'score': 550.77}, {'connected_gene': 'FAM212A', 'score': 23.43}, {'connected_gene': 'GMPPB', 'score': 0.77}, {'connected_gene': 'RNF123', 'score': 0.29}, {'connected_gene': 'MST1', 'score': 0.29}, {'connected_gene': 'GC03P049421', 'score': 0.06}]
chr3	GH03I049718	49718535	49718617	0.38	[{'connected_gene': 'AMIGO3', 'score': 550.77}, {'connected_gene': 'GMPPB', 'score': 0.44}, {'connected_gene': 'RNF123', 'score': 0.31}, {'connected_gene': 'MST1', 'score': 0.31}, {'connected_gene': 'GC03P049421', 'score': 0.06}]
chr3	GH03I049694	49694586	49695885	0.63	[{'connected_gene': 'WDR6', 'score': 42.37}, {'connected_gene': 'AMIGO3', 'score': 13.3}, {'connected_gene': 'GMPPB', 'score': 13.27}, {'connected_gene': 'APEH', 'score': 12.2}, {'connected_gene': 'BSN-AS1', 'score': 11.18}, {'connected_gene': 'BSN', 'score': 11.06}, {'connected_gene': 'AMT', 'score': 9.56}, {'connected_gene': 'C3orf18', 'score': 5.48}, {'connected_gene': 'RNF123', 'score': 0.44}, {'connected_gene': 'MST1', 'score': 0.44}, {'connected_gene': 'GC03P049421', 'score': 0.06}]
chr3	GH03I049237	49237729	49240672	1.53	[{'connected_gene': 'WDR6', 'score': 44.54}, {'connected_gene': 'AMT', 'score': 40.62}, {'connected_gene': 'IP6K2', 'score': 11.28}, {'connected_gene': 'TREX1', 'score': 10.46}, {'connected_gene': 'ZNF589', 'score': 9.98}, {'connected_gene': 'USP4', 'score': 7.75}, {'connected_gene': 'APEH', 'score': 6.58}, {'connected_gene': 'DALRD3', 'score': 6.2}, {'connected_gene': 'ENSG00000235236', 'score': 4.08}, {'connected_gene': 'RHOA', 'score': 3.35}, {'connected_gene': 'ARIH2', 'score': 2.49}, {'connected_gene': 'AMIGO3', 'score': 1.23}, {'connected_gene': 'ENSG00000270538', 'score': 0.39}, {'connected_gene': 'PIR41977', 'score': 0.28}, {'connected_gene': 'CCDC36', 'score': 0.26}]