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
ENST00000232564	[[179116989, 179119107], [179122977, 179123194], [179131199, 179131401], [179131502, 179131569], [179132672, 179132835], [179134280, 179134344], [179137186, 179137293], [179138676, 179138715], [179143931, 179144030], [179169133, 179169378]]	[[179119000, 179119107], [179122977, 179123194], [179131199, 179131401], [179131502, 179131569], [179132672, 179132835], [179134280, 179134344], [179137186, 179137293], [179138676, 179138715], [179143931, 179143988]]
ENST00000466899	[[179118636, 179119107], [179131199, 179131401], [179131502, 179131569], [179132672, 179132835], [179134280, 179134314]]	[[179119077, 179119107], [179131199, 179131401], [179131502, 179131569], [179132672, 179132835], [179134280, 179134314]]
ENST00000468623	[[179118874, 179119107], [179122977, 179123194], [179131199, 179131401], [179131502, 179131569], [179132672, 179132835], [179134280, 179134344], [179137186, 179137293], [179138676, 179138715], [179143931, 179144030], [179168764, 179168933]]	[[179119000, 179119107], [179122977, 179123194], [179131199, 179131401], [179131502, 179131569], [179132672, 179132835], [179134280, 179134344], [179137186, 179137293], [179138676, 179138715], [179143931, 179143988]]
ENST00000465153	[[179128112, 179128385], [179131199, 179131401], [179131502, 179131518]]	None
ENST00000497513	[[179134308, 179134344], [179137186, 179137293], [179138676, 179138715], [179143931, 179144030], [179155528, 179155687], [179169133, 179169264]]	[[179134308, 179134344], [179137186, 179137293], [179138676, 179138715], [179143931, 179143988]]
NM_021629	[[179113875, 179119107], [179122977, 179123194], [179131199, 179131401], [179131502, 179131569], [179132672, 179132835], [179134280, 179134344], [179137186, 179137293], [179138676, 179138715], [179143931, 179144030], [179169133, 179169371]]	[[179119000, 179119107], [179122977, 179123194], [179131199, 179131401], [179131502, 179131569], [179132672, 179132835], [179134280, 179134344], [179137186, 179137293], [179138676, 179138715], [179143931, 179143988]]

Promoter

Chrom	Start	End	Description
chr3	179169181	179169273	CAGE_peak_1_at_GNB4_5end
chr3	179169284	179169328	CAGE_peak_2_at_GNB4_5end
chr3	179169330	179169384	CAGE_peak_3_at_GNB4_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr3	GH03I179652	179652141	179655397	1.96	[{'connected_gene': 'USP13', 'score': 556.33}, {'connected_gene': 'GNB4', 'score': 4.54}, {'connected_gene': 'GC03M179795', 'score': 0.11}]
chr3	GH03I179473	179473108	179474599	0.8	[{'connected_gene': 'GNB4', 'score': 15.02}, {'connected_gene': 'ENSG00000239255', 'score': 12.44}, {'connected_gene': 'MFN1', 'score': 4.38}, {'connected_gene': 'MTHFD2P7', 'score': 0.44}, {'connected_gene': 'PIR62273', 'score': 0.39}]
chr3	GH03I179448	179448964	179453345	1.94	[{'connected_gene': 'GNB4', 'score': 573.52}, {'connected_gene': 'ENSG00000239255', 'score': 550.77}, {'connected_gene': 'MFN1', 'score': 8.71}, {'connected_gene': 'ENSG00000272699', 'score': 0.25}]
chr3	GH03I179431	179431402	179432999	0.74	[{'connected_gene': 'GNB4', 'score': 0.37}, {'connected_gene': 'ENSG00000272699', 'score': 0.31}]
chr3	GH03I179433	179433401	179433600	0.2	[{'connected_gene': 'GNB4', 'score': 0.37}, {'connected_gene': 'ENSG00000272699', 'score': 0.31}]
chr3	GH03I179430	179430401	179430600	0.31	[{'connected_gene': 'GNB4', 'score': 0.34}, {'connected_gene': 'ENSG00000272699', 'score': 0.31}]
chr3	GH03I179436	179436801	179439399	0.87	[{'connected_gene': 'MFN1', 'score': 17.46}, {'connected_gene': 'GNB4', 'score': 0.39}, {'connected_gene': 'ENSG00000272699', 'score': 0.29}]
chr3	GH03I179260	179260560	179262124	1.75	[{'connected_gene': 'LRRFIP1P1', 'score': 550.77}, {'connected_gene': 'ZNF639', 'score': 11.33}, {'connected_gene': 'GNB4', 'score': 1.69}, {'connected_gene': 'MFN1', 'score': 1.6}, {'connected_gene': 'PIK3CA', 'score': 1.39}, {'connected_gene': 'KCNMB3', 'score': 0.44}, {'connected_gene': 'GC03P179238', 'score': 0.34}]
chr3	GH03I179546	179546813	179546962	0.63	[{'connected_gene': 'ENSG00000239255', 'score': 11.67}, {'connected_gene': 'GNB4', 'score': 11.67}, {'connected_gene': 'ACTL6A', 'score': 0.37}, {'connected_gene': 'PIR62273', 'score': 0.22}]
chr3	GH03I179550	179550580	179552243	0.2	[{'connected_gene': 'ENSG00000239255', 'score': 12.75}, {'connected_gene': 'GNB4', 'score': 12.75}, {'connected_gene': 'ACTL6A', 'score': 0.39}, {'connected_gene': 'PIR62273', 'score': 0.21}]
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}]