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
ENST00000295588	[[119187784, 119187953], [119188666, 119188757], [119190155, 119190299], [119196159, 119196295], [119198897, 119199019], [119204174, 119204234], [119205679, 119205779], [119207775, 119207834], [119209397, 119209565], [119210364, 119210421], [119211128, 119213555]]	[[119187868, 119187953], [119188666, 119188757], [119190155, 119190299], [119196159, 119196295], [119198897, 119199019], [119204174, 119204234], [119205679, 119205779], [119207775, 119207834], [119209397, 119209565], [119210364, 119210421], [119211128, 119211285]]
ENST00000476573	[[119187809, 119187853], [119188666, 119188757], [119190155, 119190299], [119196159, 119196295], [119198897, 119199019], [119204174, 119204204]]	[[119187809, 119187853], [119188666, 119188757], [119190155, 119190299], [119196159, 119196295], [119198897, 119199019], [119204174, 119204204]]
ENST00000497447	[[119187809, 119187953], [119188666, 119188757], [119190155, 119190299], [119196159, 119196295], [119197180, 119197321], [119198754, 119199019], [119204174, 119204234], [119205679, 119205883], [119207775, 119207834], [119209397, 119209514]]	[[119187868, 119187953], [119188666, 119188757], [119190155, 119190299], [119196159, 119196295], [119197180, 119197288]]
ENST00000486607	[[119187809, 119187953], [119188666, 119188757], [119190155, 119190299], [119196159, 119196295], [119198754, 119199019], [119204174, 119204234], [119205679, 119205779], [119207775, 119207834], [119209397, 119209565], [119210364, 119210421], [119211128, 119211324]]	[[119187868, 119187953], [119188666, 119188757], [119190155, 119190299], [119196159, 119196295], [119198754, 119198790]]
ENST00000390401	[[119187821, 119187953], [119188666, 119188757], [119190155, 119190663]]	None
ENST00000460339	[[119187846, 119188105], [119188666, 119188757], [119190155, 119190299], [119196159, 119196254]]	[[119187868, 119188105], [119188666, 119188757], [119190155, 119190163]]
ENST00000481043	[[119196969, 119197321], [119198754, 119198826]]	None
ENST00000473648	[[119206889, 119209565], [119210364, 119210421], [119211128, 119211993]]	None
NM_152305	[[119187784, 119187953], [119188666, 119188757], [119190155, 119190299], [119196159, 119196295], [119198897, 119199019], [119204174, 119204234], [119205679, 119205779], [119207775, 119207834], [119209397, 119209565], [119210364, 119210421], [119211128, 119213555]]	[[119187868, 119187953], [119188666, 119188757], [119190155, 119190299], [119196159, 119196295], [119198897, 119199019], [119204174, 119204234], [119205679, 119205779], [119207775, 119207834], [119209397, 119209565], [119210364, 119210421], [119211128, 119211285]]
NR_024265	[[119187784, 119187953], [119188666, 119188757], [119190155, 119190299], [119196159, 119196295], [119198754, 119199019], [119204174, 119204234], [119205679, 119205779], [119207775, 119207834], [119209397, 119209565], [119210364, 119210421], [119211128, 119213555]]	None

Promoter

Chrom	Start	End	Description
chr3	119187800	119187863	CAGE_peak_1_at_POGLUT1_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr3	GH03I119570	119570001	119571999	1.3	[{'connected_gene': 'CD80', 'score': 19.97}, {'connected_gene': 'PLA1A', 'score': 12.4}, {'connected_gene': 'ARHGAP31', 'score': 12.16}, {'connected_gene': 'ADPRH', 'score': 11.85}, {'connected_gene': 'POPDC2', 'score': 10.64}, {'connected_gene': 'POGLUT1', 'score': 9.71}, {'connected_gene': 'TMEM39A', 'score': 9.71}, {'connected_gene': 'COX17', 'score': 2.25}]
chr3	GH03I119480	119480694	119481966	0.2	[{'connected_gene': 'CD80', 'score': 10.82}, {'connected_gene': 'TIMMDC1', 'score': 5.2}, {'connected_gene': 'POGLUT1', 'score': 4.53}, {'connected_gene': 'ENSG00000272662', 'score': 0.37}]
chr3	GH03I119518	119518509	119518999	0.25	[{'connected_gene': 'CD80', 'score': 28.27}, {'connected_gene': 'ADPRH', 'score': 12.73}, {'connected_gene': 'POGLUT1', 'score': 8.28}, {'connected_gene': 'COX17', 'score': 1.61}, {'connected_gene': 'TMEM39A', 'score': 1.54}, {'connected_gene': 'ARHGAP31', 'score': 1.54}, {'connected_gene': 'CSRP2P1', 'score': 0.39}, {'connected_gene': 'PIR33513', 'score': 0.37}, {'connected_gene': 'GC03P119501', 'score': 0.37}, {'connected_gene': 'TIMMDC1', 'score': 0.34}]
chr3	GH03I119618	119618766	119620444	0.38	[{'connected_gene': 'CD80', 'score': 19.32}, {'connected_gene': 'ADPRH', 'score': 17.46}, {'connected_gene': 'PLA1A', 'score': 12.88}, {'connected_gene': 'POPDC2', 'score': 11.89}, {'connected_gene': 'COX17', 'score': 7.9}, {'connected_gene': 'POGLUT1', 'score': 6.41}, {'connected_gene': 'LOC105374062', 'score': 0.39}, {'connected_gene': 'GC03M119637', 'score': 0.37}]
chr3	GH03I119468	119468013	119470237	2.01	[{'connected_gene': 'POGLUT1', 'score': 591.92}, {'connected_gene': 'TMEM39A', 'score': 561.68}, {'connected_gene': 'RPS26P21', 'score': 14.74}, {'connected_gene': 'B4GALT4', 'score': 11.11}, {'connected_gene': 'CD80', 'score': 10.83}, {'connected_gene': 'FSTL1', 'score': 10.7}, {'connected_gene': 'TIMMDC1', 'score': 4.57}, {'connected_gene': 'ENSG00000272662', 'score': 0.31}]
chr3	GH03I119507	119507703	119508807	0.67	[{'connected_gene': 'POGLUT1', 'score': 6.76}, {'connected_gene': 'TIMMDC1', 'score': 6.38}, {'connected_gene': 'PIR33513', 'score': 0.44}, {'connected_gene': 'GC03P119501', 'score': 0.44}, {'connected_gene': 'CSRP2P1', 'score': 0.34}]
chr3	GH03I119541	119541106	119542354	0.38	[{'connected_gene': 'POGLUT1', 'score': 4.56}, {'connected_gene': 'CSRP2P1', 'score': 0.39}, {'connected_gene': 'GC03M119536', 'score': 0.39}, {'connected_gene': 'CD80', 'score': 0.37}]
chr3	GH03I119538	119538224	119540202	0.52	[{'connected_gene': 'POGLUT1', 'score': 9.56}, {'connected_gene': 'CSRP2P1', 'score': 0.44}, {'connected_gene': 'GC03M119536', 'score': 0.39}, {'connected_gene': 'CD80', 'score': 0.34}]
chr3	GH03I119416	119416803	119419267	0.8	[{'connected_gene': 'POGLUT1', 'score': 27.88}, {'connected_gene': 'GC03P119428', 'score': 0.39}, {'connected_gene': 'RNU6-1127P', 'score': 0.18}, {'connected_gene': 'GC03M119342', 'score': 0.18}, {'connected_gene': 'ARHGAP31', 'score': 0.13}]
chr3	GH03I119462	119462057	119464818	2.08	[{'connected_gene': 'TMEM39A', 'score': 550.44}, {'connected_gene': 'POGLUT1', 'score': 30.64}, {'connected_gene': 'TIMMDC1', 'score': 11.56}, {'connected_gene': 'GC03P119428', 'score': 0.29}]
chr3	GH03I119595	119595328	119598332	1.73	[{'connected_gene': 'PLA1A', 'score': 550.77}, {'connected_gene': 'CD80', 'score': 15.37}, {'connected_gene': 'ADPRH', 'score': 13.01}, {'connected_gene': 'COX17', 'score': 7.58}, {'connected_gene': 'ARHGAP31', 'score': 4.79}, {'connected_gene': 'TMEM39A', 'score': 1.65}, {'connected_gene': 'POGLUT1', 'score': 1.62}, {'connected_gene': 'ENSG00000272967', 'score': 0.37}]
chr3	GH03I119497	119497379	119501067	2.05	[{'connected_gene': 'TIMMDC1', 'score': 556.72}, {'connected_gene': 'PIR33513', 'score': 550.77}, {'connected_gene': 'GC03P119501', 'score': 550.77}, {'connected_gene': 'ENSG00000272662', 'score': 550.77}, {'connected_gene': 'POGLUT1', 'score': 39.23}, {'connected_gene': 'CD80', 'score': 11.47}, {'connected_gene': 'TMEM39A', 'score': 11.32}, {'connected_gene': 'ADPRH', 'score': 10.97}, {'connected_gene': 'POPDC2', 'score': 10.54}, {'connected_gene': 'MAATS1', 'score': 9.67}, {'connected_gene': 'IGSF11', 'score': 3.96}, {'connected_gene': 'CSRP2P1', 'score': 0.29}]
chr3	GH03I120090	120090372	120097503	2.29	[{'connected_gene': 'GSK3B', 'score': 566.45}, {'connected_gene': 'ENSG00000242622', 'score': 550.77}, {'connected_gene': 'POGLUT1', 'score': 12.93}, {'connected_gene': 'TMEM39A', 'score': 12.32}, {'connected_gene': 'GC03M119752', 'score': 0.39}]
chr3	GH03I119529	119529670	119530507	0.2	[{'connected_gene': 'CSRP2P1', 'score': 550.77}, {'connected_gene': 'ADPRH', 'score': 11.69}, {'connected_gene': 'POGLUT1', 'score': 8.8}, {'connected_gene': 'CD80', 'score': 0.31}, {'connected_gene': 'PIR33513', 'score': 0.29}, {'connected_gene': 'GC03P119501', 'score': 0.29}]
chr3	GH03I119548	119548975	119552269	0.69	[{'connected_gene': 'GC03M119536', 'score': 550.77}, {'connected_gene': 'POGLUT1', 'score': 6.22}, {'connected_gene': 'TIMMDC1', 'score': 5.95}, {'connected_gene': 'GSK3B', 'score': 4.4}, {'connected_gene': 'CD80', 'score': 0.44}, {'connected_gene': 'CSRP2P1', 'score': 0.37}]