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
ENST00000480687	[[49754276, 49759316], [49759397, 49759580], [49759663, 49759791], [49759864, 49759943], [49760028, 49760187], [49760404, 49760547], [49760686, 49760735], [49760824, 49760905], [49761030, 49761164], [49761272, 49761384]]	[[49759184, 49759316], [49759397, 49759580], [49759663, 49759791], [49759864, 49759943], [49760028, 49760187], [49760404, 49760547], [49760686, 49760735], [49760824, 49760905], [49761030, 49761159]]
ENST00000308375	[[49757356, 49759580], [49759663, 49759791], [49759864, 49759943], [49760028, 49760187], [49760404, 49760547], [49760686, 49760735], [49760824, 49760905], [49761030, 49761384]]	[[49759184, 49759580], [49759663, 49759791], [49759864, 49759943], [49760028, 49760187], [49760404, 49760547], [49760686, 49760735], [49760824, 49760905], [49761030, 49761159]]
ENST00000308388	[[49758908, 49759316], [49759397, 49759580], [49759663, 49759791], [49759864, 49759943], [49760028, 49760187], [49760404, 49760547], [49760686, 49760735], [49760824, 49760905], [49761030, 49761382]]	[[49759184, 49759316], [49759397, 49759580], [49759663, 49759791], [49759864, 49759943], [49760028, 49760187], [49760404, 49760547], [49760686, 49760735], [49760824, 49760905], [49761030, 49761159]]
ENST00000481959	[[49760164, 49760547], [49760686, 49760901], [49761030, 49761376]]	None
ENST00000495627	[[49760424, 49760735], [49760824, 49760905], [49761030, 49761349]]	None
NM_013334	[[49758908, 49759580], [49759663, 49759791], [49759864, 49759943], [49760028, 49760187], [49760404, 49760547], [49760686, 49760735], [49760824, 49760905], [49761030, 49761407]]	[[49759184, 49759580], [49759663, 49759791], [49759864, 49759943], [49760028, 49760187], [49760404, 49760547], [49760686, 49760735], [49760824, 49760905], [49761030, 49761159]]
NM_021971	[[49758908, 49759316], [49759397, 49759580], [49759663, 49759791], [49759864, 49759943], [49760028, 49760187], [49760404, 49760547], [49760686, 49760735], [49760824, 49760905], [49761030, 49761407]]	[[49759184, 49759316], [49759397, 49759580], [49759663, 49759791], [49759864, 49759943], [49760028, 49760187], [49760404, 49760547], [49760686, 49760735], [49760824, 49760905], [49761030, 49761159]]

Promoter

Chrom	Start	End	Description
chr3	49761337	49761421	CAGE_peak_1_at_AMIGO3_5end,CAGE_peak_1_at_GMPPB_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
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	GH03I050154	50154448	50173170	2.73	[{'connected_gene': 'SEMA3F', 'score': 560.53}, {'connected_gene': 'RBM6', 'score': 30.9}, {'connected_gene': 'RBM5', 'score': 15.13}, {'connected_gene': 'MON1A', 'score': 14.05}, {'connected_gene': 'GNAI2', 'score': 13.23}, {'connected_gene': 'HYAL3', 'score': 12.49}, {'connected_gene': 'CYB561D2', 'score': 10.14}, {'connected_gene': 'CCDC36', 'score': 6.35}, {'connected_gene': 'MAPKAPK3', 'score': 6.18}, {'connected_gene': 'KLHDC8B', 'score': 5.35}, {'connected_gene': 'DOCK3', 'score': 4.3}, {'connected_gene': 'IFRD2', 'score': 4.12}, {'connected_gene': 'HYAL2', 'score': 3.99}, {'connected_gene': 'TUSC2', 'score': 2.74}, {'connected_gene': 'MST1R', 'score': 2.4}, {'connected_gene': 'FAM212A', 'score': 2.21}, {'connected_gene': 'GMPPB', 'score': 1.37}, {'connected_gene': 'SEMA3F-AS1', 'score': 0.44}, {'connected_gene': 'GC03P050173', 'score': 0.44}]
chr3	GH03I049898	49898118	49907283	2.09	[{'connected_gene': 'MST1R', 'score': 559.86}, {'connected_gene': 'GC03P049904', 'score': 550.77}, {'connected_gene': 'ENSG00000228008', 'score': 550.77}, {'connected_gene': 'RBM6', 'score': 45.84}, {'connected_gene': 'GMPPB', 'score': 6.98}, {'connected_gene': 'IFRD2', 'score': 3.88}, {'connected_gene': 'SEMA3F', 'score': 3.25}, {'connected_gene': 'MON1A', 'score': 2.83}, {'connected_gene': 'APEH', 'score': 2.78}, {'connected_gene': 'TUSC2', 'score': 1.82}, {'connected_gene': 'FAM212A', 'score': 1.41}, {'connected_gene': 'ENSG00000230698', 'score': 0.77}, {'connected_gene': 'LOC102724438', 'score': 0.77}, {'connected_gene': 'GC03P049762', 'score': 0.12}, {'connected_gene': 'GC03P049763', 'score': 0.12}, {'connected_gene': 'GC03P049421', 'score': 0.04}]
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	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	GH03I050674	50674410	50675800	1.73	[{'connected_gene': 'DOCK3', 'score': 550.77}, {'connected_gene': 'MIR4787', 'score': 550.77}, {'connected_gene': 'GMPPB', 'score': 3.83}, {'connected_gene': 'PPIAP69', 'score': 0.39}]
chr3	GH03I049377	49377202	49380335	0.99	[{'connected_gene': 'WDR6', 'score': 15.61}, {'connected_gene': 'FAM212A', 'score': 11.86}, {'connected_gene': 'RBM6', 'score': 4.42}, {'connected_gene': 'MST1', 'score': 3.69}, {'connected_gene': 'GMPPB', 'score': 3.51}, {'connected_gene': 'RHOA-IT1', 'score': 0.39}, {'connected_gene': 'RHOA', 'score': 0.29}, {'connected_gene': 'TCTA', 'score': 0.29}]
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	GH03I049669	49669182	49669457	0.38	[{'connected_gene': 'BSN-AS1', 'score': 10.98}, {'connected_gene': 'BSN', 'score': 10.82}, {'connected_gene': 'BSN-AS2', 'score': 10.82}, {'connected_gene': 'CDHR4', 'score': 10.46}, {'connected_gene': 'GMPPB', 'score': 9.09}, {'connected_gene': 'AMT', 'score': 8.99}, {'connected_gene': 'APEH', 'score': 8.38}, {'connected_gene': 'PIR32155', 'score': 0.44}, {'connected_gene': 'GC03P049421', 'score': 0.07}]
chr3	GH03I048987	48987801	48988200	0.92	[{'connected_gene': 'LOC105377079', 'score': 550.77}, {'connected_gene': 'ENSG00000223343', 'score': 550.77}, {'connected_gene': 'P4HTM', 'score': 550.77}, {'connected_gene': 'GMPPB', 'score': 4.48}]
chr3	GH03I049721	49721967	49726179	2.2	[{'connected_gene': 'PIR59970', 'score': 550.77}, {'connected_gene': 'GC03M049731', 'score': 550.77}, {'connected_gene': 'GC03P049723', 'score': 550.77}, {'connected_gene': 'GMPPB', 'score': 550.77}, {'connected_gene': 'PIR51040', 'score': 550.77}, {'connected_gene': 'GC03M049732', 'score': 550.77}, {'connected_gene': 'FAM212A', 'score': 23.36}, {'connected_gene': 'AMT', 'score': 14.82}, {'connected_gene': 'PHF5EP', 'score': 11.8}, {'connected_gene': 'IP6K1', 'score': 11.78}, {'connected_gene': 'TRAIP', 'score': 10.39}, {'connected_gene': 'MST1', 'score': 5.93}, {'connected_gene': 'GC03P049421', 'score': 0.06}]