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
ENST00000488002	[[179322477, 179322727], [179332758, 179332847], [179333770, 179333837], [179334770, 179335206]]	None
ENST00000259037	[[179322489, 179322727], [179332758, 179332847], [179333770, 179333837], [179334770, 179334832], [179336202, 179336309], [179341707, 179342285]]	[[179322603, 179322727], [179332758, 179332847], [179333770, 179333837], [179334770, 179334832], [179336202, 179336309], [179341707, 179341828]]
ENST00000493866	[[179322578, 179322727], [179334770, 179334832], [179336202, 179336309], [179341707, 179345435]]	[[179322603, 179322727], [179334770, 179334832], [179336202, 179336309], [179341707, 179341828]]
ENST00000472629	[[179322588, 179322727], [179325545, 179325600], [179333772, 179333837], [179334770, 179334832], [179336202, 179336309], [179341707, 179342023]]	[[179322603, 179322727], [179325545, 179325600], [179333772, 179333837], [179334770, 179334832], [179336202, 179336309], [179341707, 179341828]]
ENST00000468210	[[179322596, 179322727], [179333770, 179333837], [179334770, 179334832], [179336202, 179336309], [179341707, 179342164]]	[[179322603, 179322727], [179333770, 179333837], [179334770, 179334780]]
ENST00000359944	[[179322598, 179322727], [179332739, 179332847], [179333770, 179333837], [179334770, 179334832], [179336202, 179336309], [179341707, 179342288]]	[[179322603, 179322727], [179332739, 179332744]]
ENST00000477177	[[179322603, 179322727], [179332758, 179333196]]	None
ENST00000482604	[[179322613, 179322727], [179332758, 179332847], [179333343, 179333403], [179333770, 179333837], [179334770, 179334832], [179336202, 179336309], [179341707, 179341879]]	[[179322613, 179322727], [179332758, 179332847], [179333343, 179333403], [179333770, 179333837], [179334770, 179334832], [179336202, 179336309], [179341707, 179341828]]
ENST00000480374	[[179322628, 179322727], [179332739, 179332847], [179333770, 179333837], [179336202, 179336309], [179341707, 179342055]]	[[179322628, 179322727], [179332739, 179332847], [179333770, 179333837], [179336202, 179336231]]
ENST00000496904	[[179322677, 179322727], [179334770, 179334832], [179336202, 179336265]]	None
ENST00000473500	[[179322694, 179322727], [179325545, 179325600], [179334770, 179334832], [179336202, 179336309], [179341707, 179342139]]	None
ENST00000491054	[[179332993, 179333837], [179334770, 179334832], [179336202, 179336310]]	None
ENST00000471112	[[179333794, 179333837], [179334770, 179334832], [179341707, 179342286]]	[[179333794, 179333837], [179334770, 179334832], [179341707, 179341773]]
ENST00000476587	[[179334762, 179334832], [179336202, 179336309], [179341707, 179342165]]	None
ENST00000493716	[[179336014, 179336309], [179341707, 179341888]]	None
NM_001199957	[[179322574, 179322727], [179334770, 179334832], [179336202, 179336309], [179341707, 179342288]]	[[179322603, 179322727], [179334770, 179334832], [179336202, 179336309], [179341707, 179341828]]
NM_001199958	[[179322574, 179322727], [179332758, 179332847], [179333770, 179333837], [179334770, 179334832], [179341707, 179342288]]	[[179322603, 179322727], [179332758, 179332847], [179333770, 179333837], [179334770, 179334832], [179341707, 179341773]]
NM_002492	[[179322574, 179322727], [179332758, 179332847], [179333770, 179333837], [179334770, 179334832], [179336202, 179336309], [179341707, 179342288]]	[[179322603, 179322727], [179332758, 179332847], [179333770, 179333837], [179334770, 179334832], [179336202, 179336309], [179341707, 179341828]]

Promoter

Chrom	Start	End	Description
chr3	179322453	179322464	CAGE_peak_7_at_NDUFB5_5end
chr3	179322467	179322476	CAGE_peak_10_at_NDUFB5_5end
chr3	179322481	179322494	CAGE_peak_3_at_NDUFB5_5end
chr3	179322573	179322603	CAGE_peak_1_at_NDUFB5_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr3	GH03I179608	179608479	179609723	0.77	[{'connected_gene': 'USP13', 'score': 10.86}, {'connected_gene': 'MRPL47', 'score': 7.14}, {'connected_gene': 'NDUFB5', 'score': 6.51}, {'connected_gene': 'ENSG00000239096', 'score': 0.44}]
chr3	GH03I179603	179603388	179605805	2.03	[{'connected_gene': 'NDUFB5', 'score': 559.58}, {'connected_gene': 'MRPL47', 'score': 557.14}, {'connected_gene': 'TTC14', 'score': 12.09}, {'connected_gene': 'USP13', 'score': 10.94}, {'connected_gene': 'ACTL6A', 'score': 10.15}, {'connected_gene': 'MFN1', 'score': 10.07}, {'connected_gene': 'ENSG00000272660', 'score': 0.34}]
chr3	GH03I179626	179626740	179627826	0.38	[{'connected_gene': 'GC03P179625', 'score': 550.77}, {'connected_gene': 'USP13', 'score': 11.44}, {'connected_gene': 'NDUFB5', 'score': 8.76}, {'connected_gene': 'MRPL47', 'score': 5.77}, {'connected_gene': 'GC03P179640', 'score': 0.39}]
chr3	GH03I179612	179612868	179616059	0.86	[{'connected_gene': 'ENSG00000239096', 'score': 550.77}, {'connected_gene': 'USP13', 'score': 10.87}, {'connected_gene': 'NDUFB5', 'score': 9.69}]
chr3	GH03I179525	179525792	179528060	0.92	[{'connected_gene': 'ENSG00000239255', 'score': 11.97}, {'connected_gene': 'GNB4', 'score': 11.97}, {'connected_gene': 'NDUFB5', 'score': 4.82}, {'connected_gene': 'ACTL6A', 'score': 0.28}, {'connected_gene': 'PIR62273', 'score': 0.28}]
chr3	GH03I179544	179544382	179546067	0.38	[{'connected_gene': 'ENSG00000239255', 'score': 11.67}, {'connected_gene': 'GNB4', 'score': 11.67}, {'connected_gene': 'NDUFB5', 'score': 5.54}, {'connected_gene': 'MRPL47', 'score': 5.41}, {'connected_gene': 'ACTL6A', 'score': 0.37}, {'connected_gene': 'PIR62273', 'score': 0.22}]