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
ENST00000498253	[[174979924, 174980232], [174980808, 174980887], [174983808, 174983960]]	None
ENST00000476371	[[174982093, 174983987], [174987553, 174987712], [174992499, 174992561]]	[[174983804, 174983987], [174987553, 174987712], [174992499, 174992544]]
ENST00000367677	[[174983380, 174983987], [174987553, 174987712], [174992407, 174992551]]	[[174987666, 174987712], [174992407, 174992544]]
NR_037606	[[174982093, 174983987], [174987553, 174987712], [174992407, 174992591]]	None
NM_022100	[[174982093, 174983987], [174987553, 174987712], [174992499, 174992591]]	[[174983804, 174983987], [174987553, 174987712], [174992499, 174992544]]

Promoter

Chrom	Start	End	Description
chr1	174983951	174983973	CAGE_peak_2_at_MRPS14_5end
chr1	174992544	174992576	CAGE_peak_1_at_MRPS14_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr1	GH01I174963	174963169	174972327	2.18	[{'connected_gene': 'RABGAP1L', 'score': 568.44}, {'connected_gene': 'MRPS14', 'score': 22.0}, {'connected_gene': 'RNU6-307P', 'score': 11.49}, {'connected_gene': 'CACYBP', 'score': 11.34}, {'connected_gene': 'TNN', 'score': 4.49}, {'connected_gene': 'KIAA0040', 'score': 1.28}, {'connected_gene': 'LOC101928696', 'score': 0.39}]
chr1	GH01I175033	175033970	175034260	0.22	[{'connected_gene': 'RABGAP1L', 'score': 8.64}, {'connected_gene': 'GC01P175044', 'score': 0.39}, {'connected_gene': 'MRPS14', 'score': 0.39}]
chr1	GH01I175028	175028872	175030474	1.41	[{'connected_gene': 'RABGAP1L', 'score': 16.58}, {'connected_gene': 'TNN', 'score': 5.02}, {'connected_gene': 'MRPS14', 'score': 0.44}, {'connected_gene': 'GC01P175044', 'score': 0.39}]
chr1	GH01I175014	175014635	175016991	0.76	[{'connected_gene': 'RABGAP1L', 'score': 17.42}, {'connected_gene': 'LOC101928696', 'score': 7.93}, {'connected_gene': 'MRPS14', 'score': 0.44}, {'connected_gene': 'GC01M175022', 'score': 0.44}, {'connected_gene': 'ENSG00000206659', 'score': 0.44}, {'connected_gene': 'PIR47281', 'score': 0.39}]
chr1	GH01I175470	175470730	175471774	0.95	[{'connected_gene': 'MRPS14', 'score': 11.46}, {'connected_gene': 'TNR', 'score': 10.6}, {'connected_gene': 'GC01P175473', 'score': 0.77}, {'connected_gene': 'GC01M175315', 'score': 0.1}]
chr1	GH01I175022	175022374	175024417	2.29	[{'connected_gene': 'MRPS14', 'score': 550.77}, {'connected_gene': 'GC01M175022', 'score': 550.77}, {'connected_gene': 'ENSG00000206659', 'score': 550.77}, {'connected_gene': 'LOC101928696', 'score': 8.11}]
chr1	GH01I175572	175572819	175575328	0.95	[{'connected_gene': 'GC01M175557', 'score': 550.77}, {'connected_gene': 'MRPS14', 'score': 29.62}, {'connected_gene': 'TNR', 'score': 10.18}, {'connected_gene': 'TNR-IT1', 'score': 0.37}]