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
ENST00000518634	[[109254121, 109254142], [109321564, 109321692], [109367559, 109367955]]	None
ENST00000522088	[[109321250, 109321692], [109434225, 109434318], [109447382, 109447562]]	None
ENST00000523674	[[109213444, 109214152], [109215211, 109215575]]	None
ENST00000522352	[[109213971, 109214152], [109215211, 109215346], [109215629, 109215732], [109240495, 109240620], [109241298, 109241365]]	[[109214113, 109214152], [109215211, 109215346], [109215629, 109215732], [109240495, 109240620], [109241298, 109241365]]
ENST00000220849	[[109213971, 109214152], [109215211, 109215346], [109215629, 109215732], [109226835, 109226945], [109228640, 109228742], [109229562, 109229689], [109240495, 109240620], [109241298, 109241424], [109247226, 109247331], [109248389, 109248432], [109252186, 109252304], [109254027, 109254142], [109260841, 109260994]]	[[109214113, 109214152], [109215211, 109215346], [109215629, 109215732], [109226835, 109226945], [109228640, 109228742], [109229562, 109229689], [109240495, 109240620], [109241298, 109241424], [109247226, 109247331], [109248389, 109248432], [109252186, 109252304], [109254027, 109254142], [109260841, 109260931]]
ENST00000519030	[[109214008, 109214152], [109215211, 109215346], [109215629, 109215732], [109226835, 109226945], [109228640, 109228742], [109229562, 109229689], [109240495, 109240620], [109241298, 109241424], [109247226, 109247331], [109248389, 109248432], [109252186, 109252304], [109260841, 109260927]]	[[109214113, 109214152], [109215211, 109215346], [109215629, 109215732], [109226835, 109226945], [109228640, 109228742], [109229562, 109229689], [109240495, 109240620], [109241298, 109241424], [109247226, 109247331], [109248389, 109248432], [109252186, 109252230]]
ENST00000521614	[[109214093, 109214152], [109215211, 109215346], [109215629, 109215732], [109226835, 109226945], [109228640, 109228742], [109229562, 109229689], [109240495, 109240620], [109241298, 109241424], [109247226, 109247331], [109248389, 109248432], [109252186, 109252304], [109254027, 109254142], [109254340, 109255062]]	None
ENST00000519517	[[109215698, 109215732], [109226835, 109226945], [109228640, 109228742], [109229562, 109229689], [109240495, 109240620], [109241298, 109241424], [109244035, 109244137]]	None
ENST00000519627	[[109226835, 109226945], [109228640, 109228742], [109229562, 109229689], [109240495, 109240620], [109241298, 109241424], [109260841, 109260948]]	[[109226835, 109226945], [109228640, 109228742], [109229562, 109229689], [109240495, 109240620], [109241298, 109241424], [109260841, 109260931]]
ENST00000519413	[[109228704, 109228742], [109229562, 109229689], [109233716, 109233832], [109240023, 109240161]]	None
ENST00000522445	[[109229609, 109229689], [109240495, 109240620], [109241298, 109241424], [109247226, 109247331], [109248389, 109248432], [109252186, 109252327], [109254027, 109254142], [109260841, 109260947]]	[[109252304, 109252327], [109254027, 109254142], [109260841, 109260931]]
ENST00000523646	[[109240405, 109240620], [109241298, 109241627]]	None
ENST00000521440	[[109245622, 109245901], [109247226, 109247331], [109248389, 109248432], [109252186, 109252304], [109254027, 109254142], [109260841, 109260927]]	[[109245853, 109245901], [109247226, 109247331], [109248389, 109248432], [109252186, 109252304], [109254027, 109254142], [109260841, 109260927]]
ENST00000518442	[[109246512, 109247331], [109248389, 109248432], [109252186, 109252304], [109254027, 109254142], [109260841, 109261031]]	None
ENST00000518100	[[109247259, 109247331], [109248389, 109248432], [109252186, 109252304], [109254027, 109254142], [109254340, 109254575], [109260841, 109260945]]	[[109254527, 109254575], [109260841, 109260931]]
ENST00000522887	[[109247282, 109247331], [109248389, 109248432], [109252186, 109252304], [109254027, 109254142], [109254340, 109254485], [109260841, 109260946]]	[[109254404, 109254485], [109260841, 109260931]]
ENST00000521297	[[109247322, 109247331], [109248389, 109248432], [109254027, 109254142], [109260841, 109260897]]	[[109247322, 109247331], [109248389, 109248432], [109254027, 109254142], [109260841, 109260897]]
ENST00000518345	[[109247325, 109247331], [109248389, 109248432], [109252186, 109252304], [109254027, 109254142], [109255521, 109255692], [109260841, 109260946]]	[[109247325, 109247331], [109248389, 109248432], [109252186, 109252304], [109254027, 109254085]]
NM_001568	[[109213971, 109214152], [109215211, 109215346], [109215629, 109215732], [109226835, 109226945], [109228640, 109228742], [109229562, 109229689], [109240495, 109240620], [109241298, 109241424], [109247226, 109247331], [109248389, 109248432], [109252186, 109252304], [109254027, 109254142], [109260841, 109260959]]	[[109214113, 109214152], [109215211, 109215346], [109215629, 109215732], [109226835, 109226945], [109228640, 109228742], [109229562, 109229689], [109240495, 109240620], [109241298, 109241424], [109247226, 109247331], [109248389, 109248432], [109252186, 109252304], [109254027, 109254142], [109260841, 109260931]]

Promoter

Chrom	Start	End	Description
chr8	109260930	109260958	CAGE_peak_1_at_EIF3E_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr8	GH08I108460	108460078	108466346	0.38	[{'connected_gene': 'EMC2', 'score': 16.86}, {'connected_gene': 'EIF3E', 'score': 11.84}, {'connected_gene': 'RSPO2', 'score': 8.2}, {'connected_gene': 'GC08M108476', 'score': 0.34}]
chr8	GH08I108267	108267764	108268687	0.38	[{'connected_gene': 'EMC2', 'score': 6.62}, {'connected_gene': 'ENSG00000253754', 'score': 0.26}, {'connected_gene': 'GC08M108244', 'score': 0.21}, {'connected_gene': 'EIF3E', 'score': 0.1}, {'connected_gene': 'LOC105375704', 'score': 0.1}]
chr8	GH08I108293	108293196	108294501	0.57	[{'connected_gene': 'EMC2', 'score': 10.67}, {'connected_gene': 'EIF3E', 'score': 10.46}, {'connected_gene': 'GC08M108244', 'score': 0.28}, {'connected_gene': 'ENSG00000253754', 'score': 0.2}, {'connected_gene': 'LOC105375704', 'score': 0.11}]
chr8	GH08I108442	108442330	108445669	2.25	[{'connected_gene': 'EMC2', 'score': 567.61}, {'connected_gene': 'LOC105375704', 'score': 550.77}, {'connected_gene': 'EIF3E', 'score': 28.95}, {'connected_gene': 'NUDCD1', 'score': 17.82}, {'connected_gene': 'ENY2', 'score': 11.19}, {'connected_gene': 'RSPO2', 'score': 8.45}, {'connected_gene': 'GC08M108476', 'score': 0.26}]
chr8	GH08I108246	108246276	108249600	2.1	[{'connected_gene': 'EIF3E', 'score': 563.38}, {'connected_gene': 'AURKBPS1', 'score': 5.27}, {'connected_gene': 'TMEM74', 'score': 4.36}, {'connected_gene': 'EMC2', 'score': 4.06}, {'connected_gene': 'ENSG00000253754', 'score': 0.34}, {'connected_gene': 'GC08M108244', 'score': 0.18}]
chr8	GH08I108661	108661801	108662200	0.7	[{'connected_gene': 'EIF3E', 'score': 18.14}, {'connected_gene': 'GC08P108652', 'score': 0.44}, {'connected_gene': 'GC08P108730', 'score': 0.2}, {'connected_gene': 'GC08P108729', 'score': 0.2}, {'connected_gene': 'TMEM74', 'score': 0.13}]
chr8	GH08I108426	108426012	108426181	0.38	[{'connected_gene': 'EIF3E', 'score': 0.44}, {'connected_gene': 'LOC105375704', 'score': 0.37}, {'connected_gene': 'RPS17P14', 'score': 0.25}]
chr8	GH08I108286	108286603	108287841	0.52	[{'connected_gene': 'EIF3E', 'score': 10.53}, {'connected_gene': 'GC08M108244', 'score': 0.26}, {'connected_gene': 'ENSG00000253754', 'score': 0.21}, {'connected_gene': 'LOC105375704', 'score': 0.1}]
chr8	GH08I108392	108392872	108394815	0.2	[{'connected_gene': 'EIF3E', 'score': 11.34}, {'connected_gene': 'RPS17P14', 'score': 0.39}, {'connected_gene': 'LOC105375704', 'score': 0.25}]
chr8	GH08I108393	108392351	108392401	0.2	[{'connected_gene': 'EIF3E', 'score': 11.34}, {'connected_gene': 'RPS17P14', 'score': 0.39}, {'connected_gene': 'LOC105375704', 'score': 0.23}]
chr8	GH08I108225	108225247	108225468	0.56	[{'connected_gene': 'ENSG00000253754', 'score': 550.77}, {'connected_gene': 'EMC2', 'score': 6.26}, {'connected_gene': 'AURKBPS1', 'score': 0.16}, {'connected_gene': 'EIF3E', 'score': 0.08}]
chr8	GH08I108224	108224992	108225141	0.31	[{'connected_gene': 'ENSG00000253754', 'score': 550.77}, {'connected_gene': 'AURKBPS1', 'score': 0.16}, {'connected_gene': 'EIF3E', 'score': 0.08}]
chr8	GH08I108193	108193172	108193937	0.2	[{'connected_gene': 'ENSG00000253754', 'score': 11.32}, {'connected_gene': 'EIF3E', 'score': 11.1}, {'connected_gene': 'AURKBPS1', 'score': 0.21}]
chr8	GH08I108306	108306172	108306321	0.2	[{'connected_gene': 'GC08M108244', 'score': 0.34}, {'connected_gene': 'ENSG00000253754', 'score': 0.18}, {'connected_gene': 'EIF3E', 'score': 0.13}, {'connected_gene': 'LOC105375704', 'score': 0.12}]
chr8	GH08I108307	108306412	108306561	0.31	[{'connected_gene': 'GC08M108244', 'score': 0.34}, {'connected_gene': 'ENSG00000253754', 'score': 0.18}, {'connected_gene': 'EIF3E', 'score': 0.13}, {'connected_gene': 'LOC105375704', 'score': 0.12}]