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
ENST00000234392	[[71127719, 71127998], [71148227, 71148415], [71159896, 71160576]]	[[71127751, 71127998], [71148227, 71148415], [71159896, 71160334]]
NM_012476	[[71127719, 71127998], [71148227, 71148415], [71159896, 71160576]]	[[71127751, 71127998], [71148227, 71148415], [71159896, 71160334]]

Promoter

Chrom	Start	End	Description
chr2	71127699	71127744	CAGE_peak_1_at_VAX2_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr2	GH02I070303	70303600	70304400	1	[{'connected_gene': 'FAM136A', 'score': 550.77}, {'connected_gene': 'ATP6V1B1-AS1', 'score': 10.64}, {'connected_gene': 'VAX2', 'score': 10.13}, {'connected_gene': 'BRD7P6', 'score': 0.28}]
chr2	GH02I070976	70976014	70979838	1.94	[{'connected_gene': 'ANKRD53', 'score': 556.73}, {'connected_gene': 'ZNF638', 'score': 16.3}, {'connected_gene': 'TEX261', 'score': 14.1}, {'connected_gene': 'ATP6V1B1-AS1', 'score': 11.26}, {'connected_gene': 'VAX2', 'score': 10.04}, {'connected_gene': 'NAGK', 'score': 4.91}, {'connected_gene': 'OR7E62P', 'score': 4.67}, {'connected_gene': 'CLEC4F', 'score': 4.65}, {'connected_gene': 'LOC105374795', 'score': 0.44}, {'connected_gene': 'ENSG00000258881', 'score': 0.37}]
chr2	GH02I070411	70411275	70413978	0.43	[{'connected_gene': 'TGFA', 'score': 18.36}, {'connected_gene': 'VAX2', 'score': 9.78}, {'connected_gene': 'GC02M070401', 'score': 0.44}, {'connected_gene': 'LOC105374793', 'score': 0.44}, {'connected_gene': 'TGFA-IT1', 'score': 0.2}]
chr2	GH02I070551	70551286	70555424	2.12	[{'connected_gene': 'TGFA', 'score': 559.23}, {'connected_gene': 'CLEC4F', 'score': 13.87}, {'connected_gene': 'TIA1', 'score': 13.57}, {'connected_gene': 'TEX261', 'score': 11.62}, {'connected_gene': 'PCBP1-AS1', 'score': 11.47}, {'connected_gene': 'CD207', 'score': 11.26}, {'connected_gene': 'VAX2', 'score': 9.69}, {'connected_gene': 'TGFA-IT1', 'score': 0.19}]
chr2	GH02I070936	70936781	70938124	0.52	[{'connected_gene': 'ATP6V1B1', 'score': 550.77}, {'connected_gene': 'CLEC4F', 'score': 7.15}, {'connected_gene': 'VAX2', 'score': 5.7}, {'connected_gene': 'ATP6V1B1-AS1', 'score': 0.39}]
chr2	GH02I070850	70850867	70852500	0.82	[{'connected_gene': 'CD207', 'score': 39.72}, {'connected_gene': 'VAX2', 'score': 11.56}, {'connected_gene': 'ATP6V1B1', 'score': 11.25}, {'connected_gene': 'ATP6V1B1-AS1', 'score': 11.17}, {'connected_gene': 'ADD2', 'score': 10.37}, {'connected_gene': 'FIGLA', 'score': 1.36}, {'connected_gene': 'LINC01143', 'score': 0.28}]
chr2	GH02I070908	70908001	70908400	0.43	[{'connected_gene': 'VAX2', 'score': 0.44}, {'connected_gene': 'ATP6V1B1', 'score': 0.31}]
chr2	GH02I070907	70907271	70907380	0.38	[{'connected_gene': 'VAX2', 'score': 0.44}, {'connected_gene': 'ATP6V1B1', 'score': 0.31}]
chr2	GH02I070906	70906801	70907200	0.38	[{'connected_gene': 'VAX2', 'score': 0.44}, {'connected_gene': 'ATP6V1B1', 'score': 0.31}]
chr2	GH02I070900	70900200	70902196	1.98	[{'connected_gene': 'VAX2', 'score': 555.43}, {'connected_gene': 'ENSG00000277764', 'score': 550.77}, {'connected_gene': 'CLEC4F', 'score': 10.37}, {'connected_gene': 'ATP6V1B1', 'score': 0.29}]
chr2	GH02I070794	70794995	70795319	0.24	[{'connected_gene': 'ADD2', 'score': 10.92}, {'connected_gene': 'VAX2', 'score': 10.31}, {'connected_gene': 'ATP6V1B1-AS1', 'score': 10.27}, {'connected_gene': 'FIGLA', 'score': 2.5}, {'connected_gene': 'HMGN2P21', 'score': 0.44}]
chr2	GH02I070984	70984374	70985489	0.64	[{'connected_gene': 'LOC105374795', 'score': 550.77}, {'connected_gene': 'PIR48803', 'score': 550.77}, {'connected_gene': 'PIR41407', 'score': 550.77}, {'connected_gene': 'TEX261', 'score': 23.07}, {'connected_gene': 'ATP6V1B1-AS1', 'score': 10.75}, {'connected_gene': 'VAX2', 'score': 10.13}, {'connected_gene': 'ADD2', 'score': 4.42}, {'connected_gene': 'CLEC4F', 'score': 4.34}, {'connected_gene': 'ANKRD53', 'score': 0.44}, {'connected_gene': 'ENSG00000258881', 'score': 0.39}]
chr2	GH02I070921	70921640	70922661	0.73	[{'connected_gene': 'ATP6V1B1-AS1', 'score': 12.27}, {'connected_gene': 'VAX2', 'score': 12.09}, {'connected_gene': 'ADD2', 'score': 10.53}, {'connected_gene': 'ATP6V1B1', 'score': 7.53}]
chr2	GH02I070919	70919951	70920100	0.89	[{'connected_gene': 'ATP6V1B1-AS1', 'score': 12.27}, {'connected_gene': 'ADD2', 'score': 10.53}, {'connected_gene': 'CD207', 'score': 10.49}, {'connected_gene': 'ATP6V1B1', 'score': 0.37}, {'connected_gene': 'VAX2', 'score': 0.37}]
chr2	GH02I070802	70802392	70802665	0.33	[{'connected_gene': 'HMGN2P21', 'score': 550.77}, {'connected_gene': 'CLEC4F', 'score': 14.2}, {'connected_gene': 'VAX2', 'score': 11.22}, {'connected_gene': 'ADD2', 'score': 10.73}, {'connected_gene': 'FIGLA', 'score': 0.39}]
chr2	GH02I070898	70898551	70898660	0.46	[{'connected_gene': 'ENSG00000277764', 'score': 550.77}, {'connected_gene': 'VAX2', 'score': 550.77}, {'connected_gene': 'LINC01143', 'score': 0.39}]