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
ENST00000566686	[[48322702, 48323261], [48337665, 48337800], [48339499, 48339564]]	[[48337700, 48337800], [48339499, 48339564]]
ENST00000604324	[[48323800, 48325267]]	None
ENST00000221996	[[48325096, 48325267], [48337665, 48337800], [48339499, 48339651], [48342576, 48346587]]	[[48337700, 48337800], [48339499, 48339651], [48342576, 48343224]]
ENST00000539067	[[48325163, 48325267], [48337665, 48337800], [48339499, 48339651], [48342576, 48343690], [48345810, 48346580]]	[[48337700, 48337800], [48339499, 48339651], [48342576, 48343224]]
ENST00000556527	[[48325190, 48325267], [48339499, 48339586]]	None
ENST00000602001	[[48343966, 48344011], [48345768, 48346366]]	None
NM_000554	[[48325096, 48325267], [48337665, 48337800], [48339499, 48339651], [48342576, 48346587]]	[[48337700, 48337800], [48339499, 48339651], [48342576, 48343224]]

Promoter

Chrom	Start	End	Description
chr19	48325184	48325211	CAGE_peak_1_at_CRX_5end
chr19	48342870	48342880	CAGE_peak_3_at_CRX_5end
chr19	48343614	48343629	CAGE_peak_2_at_CRX_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr19	GH19I047798	47798052	47798252	0.28	[{'connected_gene': 'CABP5', 'score': 21.53}, {'connected_gene': 'CRX', 'score': 17.56}, {'connected_gene': 'SNORD23', 'score': 12.01}, {'connected_gene': 'NOP53', 'score': 11.98}, {'connected_gene': 'SULT2A1', 'score': 11.6}, {'connected_gene': 'RPL23AP80', 'score': 0.77}, {'connected_gene': 'TPRX1', 'score': 0.34}]
chr19	GH19I047789	47789997	47791053	1	[{'connected_gene': 'CABP5', 'score': 27.75}, {'connected_gene': 'CRX', 'score': 22.94}, {'connected_gene': 'ZC3H4', 'score': 13.8}, {'connected_gene': 'NOP53-AS1', 'score': 12.55}, {'connected_gene': 'GRWD1', 'score': 11.26}, {'connected_gene': 'RASIP1', 'score': 10.75}, {'connected_gene': 'BICRA', 'score': 10.58}, {'connected_gene': 'NOP53', 'score': 4.68}, {'connected_gene': 'ENSG00000271150', 'score': 0.77}, {'connected_gene': 'GC19P047784', 'score': 0.44}]
chr19	GH19I047821	47821888	47821947	0.5	[{'connected_gene': 'CRX', 'score': 550.77}, {'connected_gene': 'CCDC114', 'score': 5.07}, {'connected_gene': 'GC19P047824', 'score': 0.77}, {'connected_gene': 'GC19P047821', 'score': 0.77}, {'connected_gene': 'GC19P047839', 'score': 0.37}, {'connected_gene': 'GC19P047842', 'score': 0.37}]
chr19	GH19I047799	47798990	47799190	0.23	[{'connected_gene': 'CRX', 'score': 15.15}, {'connected_gene': 'SNORD23', 'score': 12.01}, {'connected_gene': 'NOP53', 'score': 11.98}, {'connected_gene': 'SULT2A1', 'score': 11.6}, {'connected_gene': 'CABP5', 'score': 4.08}, {'connected_gene': 'RPL23AP80', 'score': 0.77}, {'connected_gene': 'TPRX1', 'score': 0.37}]
chr19	GH19I047827	47827782	47827841	0.5	[{'connected_gene': 'CRX', 'score': 550.44}, {'connected_gene': 'GC19P047824', 'score': 0.44}, {'connected_gene': 'GC19P047821', 'score': 0.44}, {'connected_gene': 'GC19P047839', 'score': 0.39}, {'connected_gene': 'GC19P047842', 'score': 0.39}]
chr19	GH19I048061	48061032	48061425	0.24	[{'connected_gene': 'PLA2G4C-AS1', 'score': 550.77}, {'connected_gene': 'CABP5', 'score': 48.72}, {'connected_gene': 'KCNJ14', 'score': 13.03}, {'connected_gene': 'CRX', 'score': 7.29}, {'connected_gene': 'PLA2G4C', 'score': 0.25}]
chr19	GH19I047840	47839618	47840216	0.31	[{'connected_gene': 'GC19P047839', 'score': 550.77}, {'connected_gene': 'GC19P047842', 'score': 550.77}, {'connected_gene': 'TPRX2P', 'score': 0.34}, {'connected_gene': 'CRX', 'score': 0.34}]
chr19	GH19I047819	47819488	47820285	0.49	[{'connected_gene': 'GC19P047822', 'score': 550.77}, {'connected_gene': 'GC19P047820', 'score': 550.77}, {'connected_gene': 'GC19P047824', 'score': 550.77}, {'connected_gene': 'TPRX1', 'score': 550.77}, {'connected_gene': 'GC19P047823', 'score': 550.77}, {'connected_gene': 'GC19P047821', 'score': 550.77}, {'connected_gene': 'GC19P047825', 'score': 550.77}, {'connected_gene': 'CRX', 'score': 550.77}, {'connected_gene': 'LINC01595', 'score': 5.46}, {'connected_gene': 'GC19P047839', 'score': 0.37}, {'connected_gene': 'GC19P047842', 'score': 0.37}]
chr19	GH19I047839	47839544	47839553	0.2	[{'connected_gene': 'GC19P047839', 'score': 550.77}, {'connected_gene': 'GC19P047842', 'score': 550.77}, {'connected_gene': 'GC19P047824', 'score': 0.37}, {'connected_gene': 'GC19P047821', 'score': 0.37}, {'connected_gene': 'CRX', 'score': 0.37}]