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
ENST00000367615	[[179519673, 179520586], [179521737, 179521816], [179523610, 179523666], [179526161, 179526365], [179528813, 179528896], [179530423, 179530496], [179533824, 179533928], [179544725, 179545068]]	[[179520307, 179520586], [179521737, 179521816], [179523610, 179523666], [179526161, 179526365], [179528813, 179528896], [179530423, 179530496], [179533824, 179533928], [179544725, 179544999]]
ENST00000367616	[[179519673, 179520586], [179521737, 179521816], [179523610, 179523666], [179528813, 179528896], [179530423, 179530496], [179533824, 179533928], [179544725, 179545087]]	[[179520307, 179520586], [179521737, 179521816], [179523610, 179523666], [179528813, 179528896], [179530423, 179530496], [179533824, 179533928], [179544725, 179544999]]
NM_014625	[[179519673, 179520586], [179521737, 179521816], [179523610, 179523666], [179526161, 179526365], [179528813, 179528896], [179530423, 179530496], [179533824, 179533928], [179544725, 179545087]]	[[179520307, 179520586], [179521737, 179521816], [179523610, 179523666], [179526161, 179526365], [179528813, 179528896], [179530423, 179530496], [179533824, 179533928], [179544725, 179544999]]
NM_001297575	[[179519673, 179520586], [179521737, 179521816], [179523610, 179523666], [179528813, 179528896], [179530423, 179530496], [179533824, 179533928], [179544725, 179545087]]	[[179520307, 179520586], [179521737, 179521816], [179523610, 179523666], [179528813, 179528896], [179530423, 179530496], [179533824, 179533928], [179544725, 179544999]]

Promoter

Chrom	Start	End	Description
chr1	179545059	179545089	CAGE_peak_1_at_NPHS2_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr1	GH01I179550	179550597	179551555	0.75	[{'connected_gene': 'TDRD5', 'score': 45.48}, {'connected_gene': 'LOC126860', 'score': 17.82}, {'connected_gene': 'ENSG00000261060', 'score': 12.98}, {'connected_gene': 'AXDND1', 'score': 6.19}, {'connected_gene': 'ENSG00000261250', 'score': 0.77}, {'connected_gene': 'NPHS2', 'score': 0.34}, {'connected_gene': 'PIRC5', 'score': 0.34}]
chr1	GH01I179575	179575933	179575992	0.73	[{'connected_gene': 'GC01P179577', 'score': 550.77}, {'connected_gene': 'NPHS2', 'score': 550.77}, {'connected_gene': 'RNU5F-2P', 'score': 550.77}, {'connected_gene': 'TDRD5', 'score': 32.03}, {'connected_gene': 'PIRC5', 'score': 0.77}]