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
ENST00000486478	[[60452940, 60453694], [60454157, 60454240], [60454823, 60456505], [60463280, 60463488], [60466748, 60466828], [60474319, 60474524]]	None
ENST00000450089	[[60456065, 60456505], [60463280, 60463488], [60466748, 60466828], [60476063, 60476128], [60491072, 60491170], [60520875, 60521110], [60538208, 60538342], [60539361, 60539408]]	[[60456344, 60456505], [60463280, 60463488], [60466748, 60466828], [60476063, 60476128], [60491072, 60491170], [60520875, 60521110], [60538208, 60538315]]
ENST00000371201	[[60456065, 60456505], [60463280, 60463488], [60466748, 60466828], [60476063, 60476128], [60491072, 60491170], [60499147, 60499313], [60503663, 60503779], [60505588, 60505852], [60506662, 60506803], [60520875, 60521110], [60538208, 60538342], [60539361, 60539442]]	[[60456344, 60456505], [60463280, 60463488], [60466748, 60466828], [60476063, 60476128], [60491072, 60491170], [60499147, 60499313], [60503663, 60503779], [60505588, 60505852], [60506662, 60506803], [60520875, 60521110], [60538208, 60538315]]
ENST00000488027	[[60456068, 60456505], [60463280, 60463488], [60466748, 60466828], [60474384, 60474517]]	None
ENST00000395552	[[60456069, 60456505], [60463280, 60463488], [60466748, 60466828], [60474319, 60474413]]	[[60456344, 60456505], [60463280, 60463488], [60466748, 60466828], [60474319, 60474413]]
ENST00000491817	[[60456471, 60456505], [60463280, 60463488], [60466748, 60466828], [60476063, 60476128], [60476516, 60476626]]	None
NM_152377	[[60456065, 60456505], [60463280, 60463488], [60466748, 60466828], [60476063, 60476128], [60491072, 60491170], [60499147, 60499313], [60503663, 60503779], [60505588, 60505852], [60506662, 60506803], [60520875, 60521110], [60538208, 60538342], [60539361, 60539442]]	[[60456344, 60456505], [60463280, 60463488], [60466748, 60466828], [60476063, 60476128], [60491072, 60491170], [60499147, 60499313], [60503663, 60503779], [60505588, 60505852], [60506662, 60506803], [60520875, 60521110], [60538208, 60538315]]

Promoter

Chrom	Start	End	Description
chr1	60539405	60539418	CAGE_peak_2_at_C1orf87_5end
chr1	60539422	60539447	CAGE_peak_1_at_C1orf87_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr1	GH01I059966	59966786	59967838	0.99	[{'connected_gene': 'C1orf87', 'score': 10.18}, {'connected_gene': 'CYP2J2', 'score': 5.27}, {'connected_gene': 'HOOK1', 'score': 4.53}, {'connected_gene': 'RN7SL475P', 'score': 0.44}, {'connected_gene': 'GC01M059975', 'score': 0.44}]
chr1	GH01I059993	59993939	59996197	0.4	[{'connected_gene': 'C1orf87', 'score': 18.11}, {'connected_gene': 'RN7SL475P', 'score': 0.34}, {'connected_gene': 'GC01M059975', 'score': 0.34}]
chr1	GH01I060035	60035167	60036558	0.43	[{'connected_gene': 'C1orf87', 'score': 11.01}, {'connected_gene': 'RN7SL475P', 'score': 0.21}, {'connected_gene': 'GC01M059975', 'score': 0.21}]
chr1	GH01I060265	60265768	60266842	0.74	[{'connected_gene': 'C1orf87', 'score': 10.07}, {'connected_gene': 'LOC105378761', 'score': 0.39}, {'connected_gene': 'LOC105378760', 'score': 0.34}]
chr1	GH01I060262	60262476	60263589	0.38	[{'connected_gene': 'C1orf87', 'score': 10.07}, {'connected_gene': 'LOC105378761', 'score': 0.39}, {'connected_gene': 'LOC105378760', 'score': 0.34}]
chr1	GH01I060132	60132660	60134298	0.99	[{'connected_gene': 'C1orf87', 'score': 11.06}, {'connected_gene': 'ENSG00000238242', 'score': 0.37}, {'connected_gene': 'LOC105378760', 'score': 0.14}]
chr1	GH01I060074	60073760	60073819	0.82	[{'connected_gene': 'C1orf87', 'score': 550.77}, {'connected_gene': 'PGBD4P8', 'score': 0.34}]
chr1	GH01I060073	60073989	60074138	0.46	[{'connected_gene': 'C1orf87', 'score': 550.77}, {'connected_gene': 'PGBD4P8', 'score': 0.34}]