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
ENST00000396219	[[9479943, 9480082], [9490018, 9490151], [9497509, 9497638], [9501550, 9501650], [9503383, 9503500], [9511435, 9511536], [9515625, 9515796], [9531988, 9532137], [9536204, 9536350], [9538721, 9538873], [9541925, 9542028], [9545040, 9545152], [9546339, 9546699]]	[[9480012, 9480082], [9490018, 9490151], [9497509, 9497638], [9501550, 9501650], [9503383, 9503500], [9511435, 9511536], [9515625, 9515796], [9531988, 9532137], [9536204, 9536350], [9538721, 9538873], [9541925, 9542028], [9545040, 9545152], [9546339, 9546515]]
ENST00000352665	[[9479943, 9480082], [9489089, 9489289], [9490014, 9490151], [9497509, 9497638], [9501550, 9501650], [9503383, 9503500], [9511435, 9511536], [9515625, 9515796], [9531988, 9532137], [9536204, 9536350], [9538721, 9538873], [9541925, 9542028], [9545040, 9545152], [9546339, 9546776]]	[[9480012, 9480082], [9489089, 9489289], [9490014, 9490151], [9497509, 9497638], [9501550, 9501650], [9503383, 9503500], [9511435, 9511536], [9515625, 9515796], [9531988, 9532137], [9536204, 9536350], [9538721, 9538873], [9541925, 9542028], [9545040, 9545152], [9546339, 9546515]]
ENST00000575247	[[9479958, 9480082], [9490014, 9490151], [9497509, 9497638], [9500828, 9500938], [9501550, 9501631]]	[[9480012, 9480082], [9490014, 9490040]]
ENST00000574937	[[9479960, 9480082], [9501550, 9501650], [9503383, 9503500], [9511435, 9511536], [9513607, 9513659], [9515625, 9515674]]	[[9480012, 9480082], [9501550, 9501627]]
ENST00000572333	[[9479986, 9480082], [9490014, 9490151], [9497509, 9497638], [9501550, 9501650], [9503383, 9503500]]	[[9480012, 9480082], [9490014, 9490040]]
ENST00000576630	[[9479986, 9480082], [9487498, 9487688], [9489089, 9489289], [9490014, 9490151], [9497509, 9497638], [9501550, 9501650], [9503383, 9503500], [9511435, 9511536], [9515625, 9515796], [9531988, 9532137], [9536204, 9536350], [9538721, 9538873], [9541925, 9542028], [9545040, 9545152], [9546339, 9546702]]	[[9480012, 9480082], [9487498, 9487557]]
ENST00000576499	[[9479998, 9480082], [9489089, 9489289], [9490018, 9490151], [9497509, 9497803]]	[[9480012, 9480082], [9489089, 9489289], [9490018, 9490132]]
ENST00000299764	[[9487588, 9487688], [9489089, 9489289], [9490014, 9490151], [9497509, 9497638], [9501550, 9501650], [9503383, 9503500], [9511435, 9511536], [9515625, 9515796], [9531988, 9532137], [9536204, 9536350], [9538721, 9538873], [9541925, 9542028], [9545040, 9545152], [9546339, 9546772]]	[[9487588, 9487688], [9489089, 9489289], [9490014, 9490151], [9497509, 9497638], [9501550, 9501650], [9503383, 9503500], [9511435, 9511536], [9515625, 9515796], [9531988, 9532137], [9536204, 9536350], [9538721, 9538873], [9541925, 9542028], [9545040, 9545152], [9546339, 9546515]]
ENST00000576320	[[9489222, 9489289], [9490014, 9490151], [9497509, 9497638], [9501550, 9501886]]	None
ENST00000576714	[[9536282, 9536350], [9538721, 9538873], [9541925, 9542028], [9542330, 9542462]]	None
ENST00000574097	[[9538747, 9538873], [9541925, 9542028], [9546339, 9546707]]	[[9538747, 9538873], [9541925, 9542028], [9546339, 9546390]]
NM_001080556	[[9479943, 9480082], [9490018, 9490151], [9497509, 9497638], [9501550, 9501650], [9503383, 9503500], [9511435, 9511536], [9515625, 9515796], [9531988, 9532137], [9536204, 9536350], [9538721, 9538873], [9541925, 9542028], [9545040, 9545152], [9546339, 9546776]]	[[9480012, 9480082], [9490018, 9490151], [9497509, 9497638], [9501550, 9501650], [9503383, 9503500], [9511435, 9511536], [9515625, 9515796], [9531988, 9532137], [9536204, 9536350], [9538721, 9538873], [9541925, 9542028], [9545040, 9545152], [9546339, 9546515]]
NM_145054	[[9479943, 9480082], [9489089, 9489289], [9490014, 9490151], [9497509, 9497638], [9501550, 9501650], [9503383, 9503500], [9511435, 9511536], [9515625, 9515796], [9531988, 9532137], [9536204, 9536350], [9538721, 9538873], [9541925, 9542028], [9545040, 9545152], [9546339, 9546776]]	[[9480012, 9480082], [9489089, 9489289], [9490014, 9490151], [9497509, 9497638], [9501550, 9501650], [9503383, 9503500], [9511435, 9511536], [9515625, 9515796], [9531988, 9532137], [9536204, 9536350], [9538721, 9538873], [9541925, 9542028], [9545040, 9545152], [9546339, 9546515]]

Promoter

Chrom	Start	End	Description
chr17	9479949	9479965	CAGE_peak_1_at_WDR16_5end
chr17	9479971	9480003	CAGE_peak_2_at_WDR16_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr17	GH17I009574	9574800	9577433	2.01	[{'connected_gene': 'STX8', 'score': 550.77}, {'connected_gene': 'CFAP52', 'score': 550.77}, {'connected_gene': 'ENSG00000271851', 'score': 5.35}]
chr17	GH17I009227	9227948	9229398	1.19	[{'connected_gene': 'NDEL1', 'score': 4.87}, {'connected_gene': 'NTN1', 'score': 1.94}, {'connected_gene': 'CFAP52', 'score': 1.25}, {'connected_gene': 'GC17M009219', 'score': 0.77}, {'connected_gene': 'LOC105371533', 'score': 0.44}]
chr17	GH17I009676	9676359	9678277	0.67	[{'connected_gene': 'USP43', 'score': 11.3}, {'connected_gene': 'STX8', 'score': 11.24}, {'connected_gene': 'CFAP52', 'score': 11.24}, {'connected_gene': 'GC17P009688', 'score': 0.39}, {'connected_gene': 'ENSG00000262296', 'score': 0.31}]
chr17	GH17I009451	9451834	9452935	0.53	[{'connected_gene': 'ENSG00000225751', 'score': 550.77}, {'connected_gene': 'CFAP52', 'score': 5.14}, {'connected_gene': 'GC17P009447', 'score': 0.44}, {'connected_gene': 'ENSG00000262815', 'score': 0.39}, {'connected_gene': 'STX8', 'score': 0.13}]
chr17	GH17I009643	9643837	9649696	2.22	[{'connected_gene': 'ENSG00000262296', 'score': 550.77}, {'connected_gene': 'ENSG00000265349', 'score': 550.77}, {'connected_gene': 'USP43', 'score': 550.77}, {'connected_gene': 'STX8', 'score': 10.63}, {'connected_gene': 'CFAP52', 'score': 10.63}]