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
ENST00000345003	[[148709127, 148709434], [148711928, 148712064], [148714088, 148714263], [148714528, 148714691], [148727062, 148727189], [148741839, 148742059], [148744238, 148744289], [148744546, 148745419]]	[[148709427, 148709434], [148711928, 148712064], [148714088, 148714263], [148714528, 148714691], [148727062, 148727189], [148741839, 148742059], [148744238, 148744289], [148744546, 148744720]]
ENST00000296048	[[148709238, 148709434], [148711928, 148712064], [148714088, 148714263], [148714528, 148714691], [148727062, 148727189], [148741839, 148742059], [148744546, 148745419]]	[[148709427, 148709434], [148711928, 148712064], [148714088, 148714263], [148714528, 148714691], [148727062, 148727189], [148741839, 148742059], [148744546, 148744720]]
ENST00000483267	[[148709298, 148709434], [148711928, 148712064], [148714088, 148714263], [148714528, 148714679], [148741839, 148742042]]	[[148709427, 148709434], [148711928, 148712064], [148714088, 148714263], [148714528, 148714679], [148741839, 148741952]]
ENST00000478067	[[148709326, 148709434], [148711928, 148712064], [148714088, 148714214], [148714528, 148714634]]	None
ENST00000484197	[[148709344, 148709434], [148711928, 148712064], [148714088, 148714263], [148714528, 148714691], [148727062, 148727189], [148744546, 148745418]]	[[148709427, 148709434], [148711928, 148712064], [148714088, 148714263], [148714528, 148714691], [148727062, 148727189], [148744546, 148744778]]
ENST00000492285	[[148709354, 148709434], [148710444, 148710559], [148711928, 148712064], [148714088, 148714263], [148714528, 148714679]]	[[148712059, 148712064], [148714088, 148714263], [148714528, 148714679]]
ENST00000461191	[[148709358, 148709434], [148711928, 148712064], [148714088, 148714263], [148714528, 148714679], [148727062, 148727189], [148741839, 148742040]]	[[148709427, 148709434], [148711928, 148712064], [148714088, 148714263], [148714528, 148714679], [148727062, 148727189], [148741839, 148742040]]
ENST00000473005	[[148710157, 148710559], [148711928, 148712064], [148714088, 148714263]]	[[148712059, 148712064], [148714088, 148714263]]
ENST00000465547	[[148711998, 148712047], [148714101, 148714263], [148714528, 148714547]]	None
ENST00000497528	[[148714617, 148714691], [148721739, 148721785], [148727062, 148727176]]	None
ENST00000488851	[[148718720, 148718970], [148719232, 148719380], [148721739, 148721785], [148725785, 148725890], [148726038, 148726063]]	None
ENST00000479119	[[148721740, 148721837], [148727062, 148727189], [148744546, 148745134]]	None
ENST00000469873	[[148726667, 148727189], [148741839, 148742021]]	None
NM_001184721	[[148709194, 148709434], [148711928, 148712064], [148714088, 148714263], [148714528, 148714691], [148727062, 148727189], [148744546, 148745456]]	[[148709427, 148709434], [148711928, 148712064], [148714088, 148714263], [148714528, 148714691], [148727062, 148727189], [148744546, 148744778]]
NM_001184720	[[148709194, 148709434], [148711928, 148712064], [148714088, 148714263], [148714528, 148714691], [148727062, 148727189], [148741839, 148742059], [148744546, 148745456]]	[[148709427, 148709434], [148711928, 148712064], [148714088, 148714263], [148714528, 148714691], [148727062, 148727189], [148741839, 148742059], [148744546, 148744720]]
NM_004130	[[148709194, 148709434], [148711928, 148712064], [148714088, 148714263], [148714528, 148714691], [148727062, 148727189], [148741839, 148742059], [148744238, 148744289], [148744546, 148745456]]	[[148709427, 148709434], [148711928, 148712064], [148714088, 148714263], [148714528, 148714691], [148727062, 148727189], [148741839, 148742059], [148744238, 148744289], [148744546, 148744720]]

Promoter

Chrom	Start	End	Description
chr3	148709279	148709301	CAGE_peak_2_at_GYG1_5end
chr3	148709310	148709337	CAGE_peak_1_at_GYG1_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr3	GH03I149162	149162185	149162283	0.2	[{'connected_gene': 'HPS3', 'score': 12.17}, {'connected_gene': 'UBQLN4P1', 'score': 10.71}, {'connected_gene': 'GYG1', 'score': 10.71}, {'connected_gene': 'GC03M149173', 'score': 0.39}]
chr3	GH03I149156	149156534	149158495	0.2	[{'connected_gene': 'HPS3', 'score': 16.67}, {'connected_gene': 'CP', 'score': 11.42}, {'connected_gene': 'UBQLN4P1', 'score': 10.72}, {'connected_gene': 'GYG1', 'score': 10.72}, {'connected_gene': 'HLTF', 'score': 9.14}, {'connected_gene': 'GC03M149173', 'score': 0.37}]
chr3	GH03I149149	149149744	149150987	0.2	[{'connected_gene': 'HLTF', 'score': 12.14}, {'connected_gene': 'HPS3', 'score': 5.21}, {'connected_gene': 'GYG1', 'score': 4.78}, {'connected_gene': 'GC03M149173', 'score': 0.34}]
chr3	GH03I148998	148998270	149000557	0.96	[{'connected_gene': 'HLTF', 'score': 11.11}, {'connected_gene': 'GYG1', 'score': 0.44}, {'connected_gene': 'HLTF-AS1', 'score': 0.17}]
chr3	GH03I149008	149008904	149012442	0.95	[{'connected_gene': 'HLTF', 'score': 16.63}, {'connected_gene': 'GYG1', 'score': 10.6}, {'connected_gene': 'HLTF-AS1', 'score': 0.18}]
chr3	GH03I149085	149085006	149087191	2.08	[{'connected_gene': 'HLTF', 'score': 567.67}, {'connected_gene': 'HLTF-AS1', 'score': 550.77}, {'connected_gene': 'HPS3', 'score': 10.54}, {'connected_gene': 'GYG1', 'score': 0.16}]
chr3	GH03I149144	149144663	149148185	1.09	[{'connected_gene': 'HLTF', 'score': 18.68}, {'connected_gene': 'HLTF-AS1', 'score': 10.55}, {'connected_gene': 'GYG1', 'score': 6.02}, {'connected_gene': 'HPS3', 'score': 4.77}, {'connected_gene': 'GC03M149173', 'score': 0.31}]
chr3	GH03I149042	149042421	149044944	0.74	[{'connected_gene': 'HLTF', 'score': 28.67}, {'connected_gene': 'HLTF-AS1', 'score': 11.46}, {'connected_gene': 'GYG1', 'score': 11.45}, {'connected_gene': 'UBQLN4P1', 'score': 11.44}]
chr3	GH03I148990	148990320	148993379	2.16	[{'connected_gene': 'GYG1', 'score': 559.91}, {'connected_gene': 'HLTF', 'score': 15.0}, {'connected_gene': 'HLTF-AS1', 'score': 0.16}]
chr3	GH03I149015	149015289	149022244	1.13	[{'connected_gene': 'GYG1', 'score': 22.67}, {'connected_gene': 'UBQLN4P1', 'score': 12.53}, {'connected_gene': 'HLTF', 'score': 12.31}, {'connected_gene': 'HLTF-AS1', 'score': 0.2}]
chr3	GH03I149013	149013973	149014463	0.4	[{'connected_gene': 'GYG1', 'score': 12.58}, {'connected_gene': 'UBQLN4P1', 'score': 12.55}, {'connected_gene': 'HLTF-AS1', 'score': 0.19}]
chr3	GH03I149004	149004601	149005001	0.58	[{'connected_gene': 'GYG1', 'score': 0.39}, {'connected_gene': 'HLTF-AS1', 'score': 0.18}]
chr3	GH03I149001	149001331	149002079	0.2	[{'connected_gene': 'GYG1', 'score': 10.57}, {'connected_gene': 'HLTF-AS1', 'score': 0.18}]
chr3	GH03I148987	148987401	148987800	0.7	[{'connected_gene': 'UBQLN4P1', 'score': 550.77}, {'connected_gene': 'GC03M148985', 'score': 550.77}, {'connected_gene': 'GYG1', 'score': 5.78}]
chr3	GH03I149095	149095255	149096155	0.86	[{'connected_gene': 'ENSG00000201031', 'score': 550.77}, {'connected_gene': 'GC03M149095', 'score': 550.77}, {'connected_gene': 'HLTF', 'score': 10.79}, {'connected_gene': 'GYG1', 'score': 6.26}, {'connected_gene': 'MED28P2', 'score': 0.77}, {'connected_gene': 'HLTF-AS1', 'score': 0.44}]