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
ENST00000325643	[[90497740, 90498115], [90498906, 90498961], [90499505, 90499566], [90499827, 90503814]]	[[90497806, 90498115], [90498906, 90498961], [90499505, 90499566], [90499827, 90503740]]
NM_178828	[[90497771, 90498115], [90498906, 90498961], [90499505, 90499566], [90499827, 90503814]]	[[90497806, 90498115], [90498906, 90498961], [90499505, 90499566], [90499827, 90503740]]

Promoter

Chrom	Start	End	Description
chr9	90497769	90497775	CAGE_peak_2_at_C9orf79_5end
chr9	90497786	90497793	CAGE_peak_1_at_C9orf79_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr9	GH09I087848	87848112	87849621	0.2	[{'connected_gene': 'LOC497256', 'score': 550.77}, {'connected_gene': 'SPATA31E1', 'score': 11.05}, {'connected_gene': 'LOC649166', 'score': 10.26}, {'connected_gene': 'ENSG00000214888', 'score': 4.87}, {'connected_gene': 'ENSG00000233884', 'score': 0.77}, {'connected_gene': 'PIR60572', 'score': 0.77}]
chr9	GH09I087834	87834386	87834555	0.62	[{'connected_gene': 'SPATA31E1', 'score': 10.75}, {'connected_gene': 'LOC649166', 'score': 10.71}, {'connected_gene': 'FBP2P1', 'score': 0.77}, {'connected_gene': 'NPAP1P7', 'score': 0.44}]
chr9	GH09I087445	87445605	87446200	1.15	[{'connected_gene': 'SPATA31E1', 'score': 20.92}, {'connected_gene': 'GC09M087459', 'score': 0.39}, {'connected_gene': 'ENSG00000228373', 'score': 0.34}]
chr9	GH09I087882	87882828	87882887	0.7	[{'connected_gene': 'SPATA31E1', 'score': 550.77}, {'connected_gene': 'PIR37243', 'score': 550.77}, {'connected_gene': 'PIR51268', 'score': 0.44}]