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
ENST00000413566	[[57670517, 57675515], [57676284, 57676500], [57676670, 57676779], [57684699, 57684786], [57686039, 57686160], [57689025, 57689134], [57696451, 57696599], [57698223, 57698433], [57699384, 57699467], [57700460, 57700601], [57700705, 57700750], [57702428, 57702538], [57704055, 57704084], [57706312, 57706377], [57710882, 57711077], [57713428, 57713576], [57714335, 57714430], [57735339, 57735726]]	[[57675326, 57675515], [57676284, 57676500], [57676670, 57676779], [57684699, 57684786], [57686039, 57686160], [57689025, 57689134], [57696451, 57696599], [57698223, 57698433], [57699384, 57699467], [57700460, 57700601], [57700705, 57700750], [57702428, 57702538], [57704055, 57704084], [57706312, 57706377], [57710882, 57711077], [57713428, 57713576], [57714335, 57714430], [57735339, 57735366]]
ENST00000554011	[[57673511, 57675515], [57676284, 57676500], [57676670, 57676779], [57684699, 57684786], [57686039, 57686160], [57689025, 57689134], [57696451, 57696599], [57698223, 57699090]]	None
ENST00000340918	[[57674877, 57675515], [57676284, 57676500], [57676670, 57676779], [57684699, 57684786], [57686039, 57686160], [57689025, 57689134], [57696451, 57696599], [57698223, 57698433], [57699384, 57699467], [57700460, 57700601], [57700705, 57700750], [57702428, 57702538], [57704055, 57704084], [57706312, 57706377], [57713428, 57713576], [57714335, 57714430], [57735339, 57735617]]	[[57675326, 57675515], [57676284, 57676500], [57676670, 57676779], [57684699, 57684786], [57686039, 57686160], [57689025, 57689134], [57696451, 57696599], [57698223, 57698433], [57699384, 57699467], [57700460, 57700601], [57700705, 57700750], [57702428, 57702538], [57704055, 57704084], [57706312, 57706377], [57713428, 57713576], [57714335, 57714430], [57735339, 57735366]]
ENST00000555148	[[57675262, 57675515], [57676284, 57676500], [57676670, 57676779], [57684699, 57684786], [57686039, 57686160], [57689025, 57689134], [57696451, 57696599], [57698223, 57698433], [57699384, 57699467], [57700460, 57700601], [57700705, 57700750], [57702428, 57702538], [57704055, 57704084], [57706312, 57706377], [57710882, 57711077], [57713428, 57713545], [57714335, 57714430], [57735339, 57735555]]	[[57713532, 57713545], [57714335, 57714430], [57735339, 57735366]]
ENST00000556629	[[57698288, 57698433], [57699384, 57699467], [57700460, 57700601], [57700705, 57700750], [57702428, 57702538], [57704055, 57704224]]	None
ENST00000554934	[[57698857, 57698933], [57699384, 57699941]]	None
ENST00000554598	[[57706245, 57706377], [57710882, 57711077], [57713428, 57713576], [57714335, 57714430], [57735339, 57735541]]	None
ENST00000556911	[[57709965, 57710354], [57710882, 57711077], [57713428, 57713576], [57714335, 57714361]]	None
ENST00000555749	[[57710830, 57711077], [57713428, 57713576], [57714335, 57714430], [57735339, 57735443]]	None
ENST00000556318	[[57710996, 57711077], [57713428, 57713576], [57714335, 57714430], [57734964, 57735158]]	[[57710996, 57711077], [57713428, 57713533]]
NM_006544	[[57669193, 57675515], [57676284, 57676500], [57676670, 57676779], [57684699, 57684786], [57686039, 57686160], [57689025, 57689134], [57696451, 57696599], [57698223, 57698433], [57699384, 57699467], [57700460, 57700601], [57700705, 57700750], [57702428, 57702538], [57704055, 57704084], [57706312, 57706377], [57710882, 57711077], [57713428, 57713576], [57714335, 57714430], [57735339, 57735617]]	[[57675326, 57675515], [57676284, 57676500], [57676670, 57676779], [57684699, 57684786], [57686039, 57686160], [57689025, 57689134], [57696451, 57696599], [57698223, 57698433], [57699384, 57699467], [57700460, 57700601], [57700705, 57700750], [57702428, 57702538], [57704055, 57704084], [57706312, 57706377], [57710882, 57711077], [57713428, 57713576], [57714335, 57714430], [57735339, 57735366]]

Promoter

Chrom	Start	End	Description
chr14	57735528	57735639	CAGE_peak_1_at_EXOC5_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr14	GH14I057264	57264546	57270601	2.06	[{'connected_gene': 'AP5M1', 'score': 556.98}, {'connected_gene': 'EXOC5', 'score': 550.77}, {'connected_gene': 'NAA30', 'score': 17.8}, {'connected_gene': 'ENSG00000258592', 'score': 0.1}]
chr14	GH14I057383	57383201	57383400	0.31	[{'connected_gene': 'AP5M1', 'score': 15.81}, {'connected_gene': 'EXOC5', 'score': 9.73}, {'connected_gene': 'NAA30', 'score': 0.44}, {'connected_gene': 'ENSG00000259008', 'score': 0.31}]
chr14	GH14I057259	57259085	57259437	0.62	[{'connected_gene': 'AP5M1', 'score': 5.36}, {'connected_gene': 'EXOC5', 'score': 0.44}, {'connected_gene': 'ENSG00000258592', 'score': 0.11}]
chr14	GH14I057760	57760270	57760649	0.22	[{'connected_gene': 'SLC35F4', 'score': 13.62}, {'connected_gene': 'NAA30', 'score': 2.76}, {'connected_gene': 'ACTR10', 'score': 1.76}, {'connected_gene': 'EXOC5', 'score': 1.61}, {'connected_gene': 'C14orf37', 'score': 1.51}, {'connected_gene': 'RN7SKP99', 'score': 0.18}, {'connected_gene': 'GC14M057656', 'score': 0.18}]
chr14	GH14I057382	57382201	57382800	0.74	[{'connected_gene': 'EXOC5', 'score': 9.73}, {'connected_gene': 'AP5M1', 'score': 9.73}, {'connected_gene': 'NAA30', 'score': 0.44}, {'connected_gene': 'ENSG00000259008', 'score': 0.31}]
chr14	GH14I057290	57290128	57291232	0.71	[{'connected_gene': 'EXOC5', 'score': 11.67}, {'connected_gene': 'AP5M1', 'score': 11.67}, {'connected_gene': 'PIR52540', 'score': 0.37}, {'connected_gene': 'GC14P057276', 'score': 0.37}, {'connected_gene': 'GC14P057307', 'score': 0.37}]