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
ENST00000372670	[[44162834, 44163144], [44166602, 44166733], [44167955, 44168134]]	[[44163105, 44163144], [44166602, 44166733], [44167955, 44168046]]
ENST00000600168	[[44162835, 44163144], [44163795, 44163968], [44166602, 44166733], [44167955, 44168134]]	[[44163053, 44163144], [44163795, 44163968], [44166602, 44166733], [44167955, 44168046]]
ENST00000372665	[[44163796, 44163968], [44166602, 44166733], [44167955, 44168046]]	[[44163796, 44163968], [44166602, 44166733], [44167955, 44168046]]
NM_080827	[[44162835, 44163144], [44166602, 44166733], [44167955, 44168134]]	[[44163105, 44163144], [44166602, 44166733], [44167955, 44168046]]

Promoter

Chrom	Start	End	Description
chr20	44168117	44168135	CAGE_peak_1_at_WFDC6_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr20	GH20I045433	45433093	45433904	0.76	[{'connected_gene': 'DBNDD2', 'score': 13.11}, {'connected_gene': 'SYS1-DBNDD2', 'score': 11.68}, {'connected_gene': 'SYS1', 'score': 11.68}, {'connected_gene': 'WFDC11', 'score': 4.78}, {'connected_gene': 'KCNS1', 'score': 2.06}, {'connected_gene': 'WFDC6', 'score': 1.39}, {'connected_gene': 'GC20P045440', 'score': 0.44}, {'connected_gene': 'LOC105372631', 'score': 0.44}, {'connected_gene': 'PIGT', 'score': 0.37}]
chr20	GH20I045539	45539471	45539530	0.5	[{'connected_gene': 'WFDC6', 'score': 550.77}, {'connected_gene': 'HSPD1P21', 'score': 550.77}, {'connected_gene': 'EPPIN-WFDC6', 'score': 0.44}]
chr20	GH20I045538	45538542	45538571	0.38	[{'connected_gene': 'WFDC6', 'score': 550.77}, {'connected_gene': 'ENSG00000232135', 'score': 550.77}, {'connected_gene': 'HSPD1P21', 'score': 550.77}, {'connected_gene': 'EPPIN-WFDC6', 'score': 0.44}]
chr20	GH20I045770	45770782	45771892	1.33	[{'connected_gene': 'WFDC3', 'score': 49.4}, {'connected_gene': 'WFDC13', 'score': 15.78}, {'connected_gene': 'SPINT5P', 'score': 11.34}, {'connected_gene': 'HNRNPA1P3', 'score': 11.32}, {'connected_gene': 'DNTTIP1', 'score': 11.22}, {'connected_gene': 'EPPIN', 'score': 10.26}, {'connected_gene': 'EPPIN-WFDC6', 'score': 10.26}, {'connected_gene': 'HSPD1P21', 'score': 10.25}, {'connected_gene': 'WFDC6', 'score': 10.25}, {'connected_gene': 'ENSG00000232135', 'score': 10.25}, {'connected_gene': 'PIGT', 'score': 9.33}, {'connected_gene': 'GC20P045773', 'score': 0.77}]
chr20	GH20I045765	45765113	45767693	0.31	[{'connected_gene': 'WFDC3', 'score': 34.91}, {'connected_gene': 'WFDC13', 'score': 16.34}, {'connected_gene': 'DNTTIP1', 'score': 15.53}, {'connected_gene': 'HNRNPA1P3', 'score': 11.34}, {'connected_gene': 'EPPIN', 'score': 10.26}, {'connected_gene': 'EPPIN-WFDC6', 'score': 10.26}, {'connected_gene': 'HSPD1P21', 'score': 10.26}, {'connected_gene': 'WFDC6', 'score': 10.26}, {'connected_gene': 'ENSG00000232135', 'score': 10.26}, {'connected_gene': 'SPINT3', 'score': 10.04}, {'connected_gene': 'WFDC10B', 'score': 9.67}, {'connected_gene': 'PIGT', 'score': 9.38}, {'connected_gene': 'PLTP', 'score': 5.41}, {'connected_gene': 'GC20P045773', 'score': 0.44}, {'connected_gene': 'SPINT5P', 'score': 0.37}]
chr20	GH20I045773	45773773	45776369	0.31	[{'connected_gene': 'GC20P045773', 'score': 550.77}, {'connected_gene': 'WFDC3', 'score': 70.67}, {'connected_gene': 'UBE2C', 'score': 10.41}, {'connected_gene': 'SNX21', 'score': 10.38}, {'connected_gene': 'TNNC2', 'score': 10.38}, {'connected_gene': 'EPPIN', 'score': 10.32}, {'connected_gene': 'EPPIN-WFDC6', 'score': 10.32}, {'connected_gene': 'HSPD1P21', 'score': 10.32}, {'connected_gene': 'WFDC6', 'score': 10.32}, {'connected_gene': 'ENSG00000232135', 'score': 10.32}, {'connected_gene': 'GC20P045779', 'score': 0.77}]