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
ENST00000245185	[[56642110, 56642595], [56642903, 56642969], [56643174, 56643409]]	[[56642567, 56642595], [56642903, 56642969], [56643174, 56643266]]
ENST00000563985	[[56642495, 56642969], [56643174, 56643388]]	None
ENST00000562017	[[56642506, 56643409]]	None
ENST00000561491	[[56642517, 56642595], [56642903, 56643406]]	[[56642567, 56642595], [56642903, 56643097]]
ENST00000567300	[[56642601, 56642716], [56642903, 56642969], [56643174, 56643409]]	None
NM_005953	[[56642477, 56642595], [56642903, 56642969], [56643174, 56643409]]	[[56642567, 56642595], [56642903, 56642969], [56643174, 56643266]]

Promoter

Chrom	Start	End	Description
chr16	56642041	56642084	CAGE_peak_2_at_MT2A_5end
chr16	56642489	56642505	CAGE_peak_1_at_MT1A_5end,CAGE_peak_1_at_MT2A_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr16	GH16I056589	56589201	56589800	1.13	[{'connected_gene': 'MT3', 'score': 550.77}, {'connected_gene': 'MT1E', 'score': 8.03}, {'connected_gene': 'MT2A', 'score': 0.37}]
chr16	GH16I056604	56604775	56615536	2.79	[{'connected_gene': 'MT2A', 'score': 553.69}, {'connected_gene': 'ENSG00000260823', 'score': 550.77}, {'connected_gene': 'GC16P056608', 'score': 550.77}, {'connected_gene': 'GC16P056609', 'score': 550.77}, {'connected_gene': 'RSPRY1', 'score': 24.6}, {'connected_gene': 'POLR2C', 'score': 19.13}, {'connected_gene': 'BBS2', 'score': 17.36}, {'connected_gene': 'MT1A', 'score': 15.36}, {'connected_gene': 'MT1F', 'score': 11.87}, {'connected_gene': 'MT1G', 'score': 11.53}, {'connected_gene': 'MT1H', 'score': 11.53}, {'connected_gene': 'MT3', 'score': 11.52}, {'connected_gene': 'MT1DP', 'score': 11.48}, {'connected_gene': 'MT1CP', 'score': 11.46}, {'connected_gene': 'MT1B', 'score': 11.3}, {'connected_gene': 'MT1X', 'score': 10.91}, {'connected_gene': 'NUP93', 'score': 10.64}, {'connected_gene': 'MIR138-2', 'score': 9.93}, {'connected_gene': 'MT1E', 'score': 9.44}, {'connected_gene': 'MT4', 'score': 8.48}, {'connected_gene': 'MT1L', 'score': 8.32}, {'connected_gene': 'DOK4', 'score': 5.44}, {'connected_gene': 'HMGB3P32', 'score': 4.98}, {'connected_gene': 'NLRC5', 'score': 4.83}, {'connected_gene': 'MT1M', 'score': 3.78}, {'connected_gene': 'HERPUD1', 'score': 2.48}]
chr16	GH16I056600	56600509	56600658	0.83	[{'connected_gene': 'MT2A', 'score': 0.44}, {'connected_gene': 'MT3', 'score': 0.39}]
chr16	GH16I056603	56603601	56604125	1.21	[{'connected_gene': 'MT1G', 'score': 11.09}, {'connected_gene': 'MT1H', 'score': 11.08}, {'connected_gene': 'MT1B', 'score': 10.88}, {'connected_gene': 'MT1X', 'score': 10.69}, {'connected_gene': 'MT1A', 'score': 10.49}, {'connected_gene': 'MT2A', 'score': 0.77}, {'connected_gene': 'MT3', 'score': 0.39}]
chr16	GH16I056605	56604354	56604409	0.51	[{'connected_gene': 'MT1G', 'score': 11.09}, {'connected_gene': 'MT1H', 'score': 11.08}, {'connected_gene': 'MT1B', 'score': 10.88}, {'connected_gene': 'MT1X', 'score': 10.69}, {'connected_gene': 'MT1A', 'score': 10.49}, {'connected_gene': 'MT2A', 'score': 0.77}, {'connected_gene': 'MT3', 'score': 0.37}]