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
ENST00000554851	[[50110272, 50110388], [50116982, 50117159], [50117986, 50118202]]	None
ENST00000556937	[[50110272, 50110388], [50114010, 50114078], [50116982, 50117159], [50117986, 50118095], [50120707, 50120785], [50120872, 50120932], [50121722, 50121782]]	None
ENST00000216367	[[50110277, 50110388], [50114010, 50114078], [50116982, 50117159], [50117986, 50118095], [50120707, 50120785], [50120872, 50120932], [50121501, 50121556], [50121722, 50121812], [50122388, 50122561], [50130032, 50130105], [50131343, 50131392], [50131824, 50131881], [50133047, 50133131], [50136241, 50136316], [50140840, 50140934], [50141067, 50141145], [50146442, 50146518], [50150310, 50150411], [50154853, 50155021]]	[[50110369, 50110388], [50114010, 50114078], [50116982, 50117159], [50117986, 50118095], [50120707, 50120785], [50120872, 50120932], [50121501, 50121556], [50121722, 50121812], [50122388, 50122561], [50130032, 50130105], [50131343, 50131392], [50131824, 50131881], [50133047, 50133131], [50136241, 50136316], [50140840, 50140934], [50141067, 50141145], [50146442, 50146518], [50150310, 50150411], [50154853, 50154921]]
ENST00000554671	[[50110281, 50110388], [50113287, 50113412], [50114010, 50114078]]	None
ENST00000555724	[[50110281, 50110388], [50113711, 50113810], [50114010, 50114078]]	None
ENST00000539565	[[50110302, 50110388], [50114010, 50114078], [50116982, 50117159], [50117986, 50118095], [50120707, 50120785], [50120872, 50120932], [50121501, 50121556], [50121722, 50121812], [50122388, 50122561], [50130032, 50130105], [50131343, 50131392], [50131824, 50131881], [50133047, 50133131], [50136241, 50136316], [50140840, 50140934], [50146442, 50146518], [50150310, 50150411], [50154853, 50155140]]	[[50110369, 50110388], [50114010, 50114078], [50116982, 50117159], [50117986, 50118095], [50120707, 50120785], [50120872, 50120932], [50121501, 50121556], [50121722, 50121812], [50122388, 50122561], [50130032, 50130105], [50131343, 50131392], [50131824, 50131881], [50133047, 50133131], [50136241, 50136316], [50140840, 50140934], [50146442, 50146518], [50150310, 50150411], [50154853, 50154921]]
ENST00000556584	[[50110303, 50110388], [50114010, 50114078], [50116982, 50117159], [50117986, 50118095], [50120707, 50120785], [50120872, 50120932], [50121501, 50121556], [50121722, 50121812], [50122388, 50122561], [50130032, 50130105], [50131343, 50131381], [50131811, 50131881], [50133047, 50133131], [50136241, 50136316], [50140840, 50140934], [50146442, 50146518], [50150310, 50150411], [50154853, 50154915]]	None
ENST00000554377	[[50116836, 50117159], [50117986, 50118095], [50120707, 50120785], [50120872, 50121038]]	None
ENST00000554396	[[50116905, 50117159], [50117986, 50118095], [50120707, 50120785], [50120872, 50120932], [50121501, 50121556], [50121722, 50121812], [50122388, 50122561], [50130032, 50130105], [50131343, 50131392], [50131824, 50131881], [50133047, 50133131], [50136241, 50136316], [50140840, 50140934], [50141067, 50141145], [50146442, 50146518], [50150310, 50150411], [50154853, 50154928]]	[[50116970, 50117159], [50117986, 50118095], [50120707, 50120785], [50120872, 50120932], [50121501, 50121556], [50121722, 50121812], [50122388, 50122561], [50130032, 50130105], [50131343, 50131392], [50131824, 50131881], [50133047, 50133131], [50136241, 50136316], [50140840, 50140934], [50141067, 50141145], [50146442, 50146518], [50150310, 50150411], [50154853, 50154921]]
ENST00000553850	[[50120642, 50120785], [50120872, 50121181]]	None
ENST00000553805	[[50146191, 50146518], [50150310, 50150411], [50154853, 50154921]]	[[50146396, 50146518], [50150310, 50150411], [50154853, 50154921]]
NM_002692	[[50110269, 50110388], [50114010, 50114078], [50116982, 50117159], [50117986, 50118095], [50120707, 50120785], [50120872, 50120932], [50121501, 50121556], [50121722, 50121812], [50122388, 50122561], [50130032, 50130105], [50131343, 50131392], [50131824, 50131881], [50133047, 50133131], [50136241, 50136316], [50140840, 50140934], [50141067, 50141145], [50146442, 50146518], [50150310, 50150411], [50154853, 50155098]]	[[50110369, 50110388], [50114010, 50114078], [50116982, 50117159], [50117986, 50118095], [50120707, 50120785], [50120872, 50120932], [50121501, 50121556], [50121722, 50121812], [50122388, 50122561], [50130032, 50130105], [50131343, 50131392], [50131824, 50131881], [50133047, 50133131], [50136241, 50136316], [50140840, 50140934], [50141067, 50141145], [50146442, 50146518], [50150310, 50150411], [50154853, 50154921]]
NM_001197330	[[50110269, 50110388], [50114010, 50114078], [50116982, 50117159], [50117986, 50118095], [50120707, 50120785], [50120872, 50120932], [50121501, 50121556], [50121722, 50121812], [50122388, 50122561], [50130032, 50130105], [50131343, 50131392], [50131824, 50131881], [50133047, 50133131], [50136241, 50136316], [50140840, 50140934], [50146442, 50146518], [50150310, 50150411], [50154853, 50155098]]	[[50110369, 50110388], [50114010, 50114078], [50116982, 50117159], [50117986, 50118095], [50120707, 50120785], [50120872, 50120932], [50121501, 50121556], [50121722, 50121812], [50122388, 50122561], [50130032, 50130105], [50131343, 50131392], [50131824, 50131881], [50133047, 50133131], [50136241, 50136316], [50140840, 50140934], [50146442, 50146518], [50150310, 50150411], [50154853, 50154921]]
NM_001197331	[[50116898, 50117159], [50117986, 50118095], [50120707, 50120785], [50120872, 50120932], [50121501, 50121556], [50121722, 50121812], [50122388, 50122561], [50130032, 50130105], [50131343, 50131392], [50131824, 50131881], [50133047, 50133131], [50136241, 50136316], [50140840, 50140934], [50141067, 50141145], [50146442, 50146518], [50150310, 50150411], [50154853, 50155098]]	[[50116970, 50117159], [50117986, 50118095], [50120707, 50120785], [50120872, 50120932], [50121501, 50121556], [50121722, 50121812], [50122388, 50122561], [50130032, 50130105], [50131343, 50131392], [50131824, 50131881], [50133047, 50133131], [50136241, 50136316], [50140840, 50140934], [50141067, 50141145], [50146442, 50146518], [50150310, 50150411], [50154853, 50154921]]

Promoter

Chrom	Start	End	Description
chr14	50131819	50131825	CAGE_peak_3_at_POLE2_5end
chr14	50154924	50154935	CAGE_peak_1_at_POLE2_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr14	GH14I050665	50665200	50671073	2.24	[{'connected_gene': 'SAV1', 'score': 566.29}, {'connected_gene': 'TMX1', 'score': 13.27}, {'connected_gene': 'POLE2', 'score': 10.48}, {'connected_gene': 'VCPKMT', 'score': 10.47}, {'connected_gene': 'MAP4K5', 'score': 7.36}, {'connected_gene': 'CDKL1', 'score': 5.58}, {'connected_gene': 'GC14M050664', 'score': 0.77}, {'connected_gene': 'GC14P050662', 'score': 0.44}]
chr14	GH14I049583	49583799	49587814	2.08	[{'connected_gene': 'RN7SL1', 'score': 550.77}, {'connected_gene': 'PIR42644', 'score': 550.77}, {'connected_gene': 'GC14M049586', 'score': 550.77}, {'connected_gene': 'GC14P049610', 'score': 550.77}, {'connected_gene': 'ENSG00000283029', 'score': 550.77}, {'connected_gene': 'GC14M049587', 'score': 550.77}, {'connected_gene': 'RPS29', 'score': 550.39}, {'connected_gene': 'RPL36AL', 'score': 38.77}, {'connected_gene': 'LRR1', 'score': 33.34}, {'connected_gene': 'KLHDC1', 'score': 30.05}, {'connected_gene': 'KLHDC2', 'score': 19.59}, {'connected_gene': 'NEMF', 'score': 16.7}, {'connected_gene': 'MAP4K5', 'score': 12.77}, {'connected_gene': 'POLE2', 'score': 10.61}, {'connected_gene': 'VCPKMT', 'score': 10.47}, {'connected_gene': 'RPL32P29', 'score': 0.44}]
chr14	GH14I049687	49687200	49689086	2.02	[{'connected_gene': 'POLE2', 'score': 550.77}, {'connected_gene': 'RHOQP1', 'score': 11.39}, {'connected_gene': 'VCPKMT', 'score': 10.83}, {'connected_gene': 'LRR1', 'score': 10.64}, {'connected_gene': 'RPL36AL', 'score': 4.62}, {'connected_gene': 'RNU6ATAC30P', 'score': 0.77}, {'connected_gene': 'GC14P049663', 'score': 0.31}]
chr14	GH14I049686	49686401	49686600	0.31	[{'connected_gene': 'POLE2', 'score': 550.77}, {'connected_gene': 'RNU6ATAC30P', 'score': 550.77}, {'connected_gene': 'NEMF', 'score': 12.55}, {'connected_gene': 'KLHDC2', 'score': 11.06}, {'connected_gene': 'GC14P049663', 'score': 0.34}]
chr14	GH14I049721	49721443	49722140	0.86	[{'connected_gene': 'POLE2', 'score': 11.48}, {'connected_gene': 'RNU6ATAC30P', 'score': 11.38}, {'connected_gene': 'ENSG00000258400', 'score': 0.39}, {'connected_gene': 'KLHDC1', 'score': 0.31}, {'connected_gene': 'GC14P049749', 'score': 0.31}, {'connected_gene': 'GC14P049663', 'score': 0.22}]
chr14	GH14I049891	49891304	49900216	2.28	[{'connected_gene': 'ARF6', 'score': 550.77}, {'connected_gene': 'LRR1', 'score': 22.73}, {'connected_gene': 'VCPKMT', 'score': 19.6}, {'connected_gene': 'RHOQP1', 'score': 11.29}, {'connected_gene': 'POLE2', 'score': 10.54}, {'connected_gene': 'ENSG00000270062', 'score': 10.29}, {'connected_gene': 'RPL36AL', 'score': 7.64}, {'connected_gene': 'ENSG00000282885', 'score': 5.26}, {'connected_gene': 'RNU6-189P', 'score': 0.44}]
chr14	GH14I049766	49766465	49772156	2.52	[{'connected_gene': 'KLHDC2', 'score': 551.95}, {'connected_gene': 'RPL36AL', 'score': 13.61}, {'connected_gene': 'RNU6ATAC30P', 'score': 11.82}, {'connected_gene': 'POLE2', 'score': 11.41}, {'connected_gene': 'KLHDC1', 'score': 11.12}, {'connected_gene': 'LRR1', 'score': 4.74}, {'connected_gene': 'GC14M049783', 'score': 0.39}]
chr14	GH14I049691	49691324	49694201	1.99	[{'connected_gene': 'KLHDC1', 'score': 550.77}, {'connected_gene': 'LRR1', 'score': 4.33}, {'connected_gene': 'POLE2', 'score': 0.77}, {'connected_gene': 'GC14P049663', 'score': 0.31}]
chr14	GH14I049594	49593628	49601412	2.28	[{'connected_gene': 'LRR1', 'score': 591.07}, {'connected_gene': 'RPS29', 'score': 550.77}, {'connected_gene': 'RPL36AL', 'score': 55.36}, {'connected_gene': 'VCPKMT', 'score': 19.56}, {'connected_gene': 'RHOQP1', 'score': 15.47}, {'connected_gene': 'MGAT2', 'score': 12.91}, {'connected_gene': 'POLE2', 'score': 10.62}, {'connected_gene': 'ENSG00000278009', 'score': 0.77}, {'connected_gene': 'ENSG00000252919', 'score': 0.44}]
chr14	GH14I049660	49660143	49660392	0.79	[{'connected_gene': 'GC14P049663', 'score': 0.77}, {'connected_gene': 'DNAAF2', 'score': 0.31}, {'connected_gene': 'POLE2', 'score': 0.31}]
chr14	GH14I049659	49659783	49659932	0.38	[{'connected_gene': 'GC14P049663', 'score': 0.77}, {'connected_gene': 'DNAAF2', 'score': 0.34}, {'connected_gene': 'POLE2', 'score': 0.31}]