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
ENST00000293255	[[48533209, 48533839], [48537471, 48537619], [48542464, 48542574], [48543861, 48544005], [48544829, 48544860], [48547116, 48547310]]	[[48533813, 48533839], [48537471, 48537619], [48542464, 48542574], [48543861, 48544005], [48544829, 48544860], [48547116, 48547179]]
ENST00000602032	[[48544585, 48544860], [48547116, 48547138]]	None
NM_019855	[[48532639, 48533839], [48537471, 48537619], [48542464, 48542574], [48543861, 48544005], [48544829, 48544860], [48547116, 48547311]]	[[48533813, 48533839], [48537471, 48537619], [48542464, 48542574], [48543861, 48544005], [48544829, 48544860], [48547116, 48547179]]

Promoter

Chrom	Start	End	Description
chr19	48547278	48547283	CAGE_peak_5_at_CABP5_5end
chr19	48547294	48547342	CAGE_peak_1_at_CABP5_5end
chr19	48547350	48547359	CAGE_peak_4_at_CABP5_5end
chr19	48547381	48547392	CAGE_peak_3_at_CABP5_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr19	GH19I047963	47963264	47963433	0.82	[{'connected_gene': 'PLA2G4C', 'score': 11.62}, {'connected_gene': 'BSPH1', 'score': 11.61}, {'connected_gene': 'ELSPBP1', 'score': 11.6}, {'connected_gene': 'CABP5', 'score': 11.11}, {'connected_gene': 'SULT2A1', 'score': 10.49}, {'connected_gene': 'LMTK3', 'score': 10.24}, {'connected_gene': 'SYNGR4', 'score': 10.13}, {'connected_gene': 'TMEM143', 'score': 10.13}, {'connected_gene': 'SNAR-C1', 'score': 0.44}, {'connected_gene': 'GC19M047959', 'score': 0.39}]
chr19	GH19I047994	47994638	47994697	1.1	[{'connected_gene': 'ELSPBP1', 'score': 550.77}, {'connected_gene': 'CABP5', 'score': 0.25}]
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	GH19I048064	48064520	48065175	0.31	[{'connected_gene': 'CABP5', 'score': 12.0}, {'connected_gene': 'PLA2G4C-AS1', 'score': 0.77}, {'connected_gene': 'PLA2G4C', 'score': 0.25}]
chr19	GH19I048044	48044059	48044118	0.84	[{'connected_gene': 'CABP5', 'score': 550.77}, {'connected_gene': 'PLA2G4C-AS1', 'score': 0.37}]
chr19	GH19I048091	48091464	48091613	0.54	[{'connected_gene': 'CABP5', 'score': 11.59}, {'connected_gene': 'BSPH1', 'score': 10.94}, {'connected_gene': 'ELSPBP1', 'score': 10.94}, {'connected_gene': 'NAPA', 'score': 9.99}, {'connected_gene': 'SULT2A1', 'score': 9.84}, {'connected_gene': 'LMTK3', 'score': 9.36}, {'connected_gene': 'PLA2G4C', 'score': 0.37}, {'connected_gene': 'PLA2G4C-AS1', 'score': 0.29}]
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	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}]