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
ENST00000393868	[[84650646, 84650896], [84652538, 84652727], [84658631, 84658783], [84660475, 84660559], [84668170, 84668228], [84668370, 84668583], [84670407, 84670524], [84676772, 84676876], [84686296, 84686604]]	[[84650869, 84650896], [84652538, 84652727], [84658631, 84658783], [84660475, 84660559], [84668170, 84668228], [84668370, 84668583], [84670407, 84670524], [84676772, 84676876], [84686296, 84686393]]
ENST00000483605	[[84668183, 84668228], [84668370, 84668583], [84670407, 84670524], [84676772, 84676876], [84685576, 84685688], [84686296, 84686360]]	None
ENST00000442240	[[84668202, 84668228], [84668370, 84668583], [84670407, 84670524], [84676052, 84676071], [84676772, 84676876], [84686296, 84686385]]	[[84670420, 84670524], [84676052, 84676071], [84676772, 84676876], [84686296, 84686385]]
ENST00000491642	[[84668356, 84668583], [84670407, 84670524], [84676772, 84676876], [84686900, 84687169]]	None
ENST00000430989	[[84668370, 84668583], [84670344, 84670524], [84676772, 84676876], [84686296, 84686370]]	None
ENST00000484365	[[84650653, 84650896], [84652538, 84654060]]	None
ENST00000491123	[[84650683, 84650896], [84652538, 84652727], [84658631, 84658783], [84659441, 84659960]]	None
ENST00000487809	[[84652537, 84652727], [84658631, 84658783], [84660475, 84660895]]	None
ENST00000488234	[[84660330, 84660559], [84668170, 84668216]]	None
NM_003849	[[84650646, 84650896], [84652538, 84652727], [84658631, 84658783], [84660475, 84660559], [84668170, 84668228], [84668370, 84668583], [84670407, 84670524], [84676772, 84676876], [84686296, 84686586]]	[[84650869, 84650896], [84652538, 84652727], [84658631, 84658783], [84660475, 84660559], [84668170, 84668228], [84668370, 84668583], [84670407, 84670524], [84676772, 84676876], [84686296, 84686393]]

Promoter

Chrom	Start	End	Description
chr2	84686356	84686417	CAGE_peak_1_at_SUCLG1_5end
chr2	84686552	84686624	CAGE_peak_2_at_SUCLG1_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr2	GH02I084740	84740841	84742049	0.77	[{'connected_gene': 'SUCLG1', 'score': 5.99}, {'connected_gene': 'TRABD2A', 'score': 5.84}, {'connected_gene': 'DUXAP1', 'score': 0.44}, {'connected_gene': 'GC02P084565', 'score': 0.1}, {'connected_gene': 'DNAH6', 'score': 0.06}]
chr2	GH02I084485	84485332	84488249	0.73	[{'connected_gene': 'SUCLG1', 'score': 17.29}, {'connected_gene': 'TRABD2A', 'score': 10.33}, {'connected_gene': 'RPS2P17', 'score': 10.33}, {'connected_gene': 'DNAH6', 'score': 6.6}, {'connected_gene': 'PIR55247', 'score': 0.44}, {'connected_gene': 'GC02P084502', 'score': 0.37}]
chr2	GH02I084435	84435056	84435966	0.31	[{'connected_gene': 'SUCLG1', 'score': 6.52}, {'connected_gene': 'PIR42366', 'score': 0.77}, {'connected_gene': 'GC02M084431', 'score': 0.77}]
chr2	GH02I084693	84693165	84695028	0.2	[{'connected_gene': 'DNAH6', 'score': 7.9}, {'connected_gene': 'SUCLG1', 'score': 6.87}, {'connected_gene': 'DUXAP1', 'score': 0.22}, {'connected_gene': 'GC02P084565', 'score': 0.13}]
chr2	GH02I084701	84701012	84703209	0.38	[{'connected_gene': 'DNAH6', 'score': 8.08}, {'connected_gene': 'SUCLG1', 'score': 6.0}, {'connected_gene': 'DUXAP1', 'score': 0.25}, {'connected_gene': 'GC02P084565', 'score': 0.12}]
chr2	GH02I084456	84456470	84463111	2.06	[{'connected_gene': 'DNAH6', 'score': 593.04}, {'connected_gene': 'SUCLG1', 'score': 557.35}, {'connected_gene': 'LOC100996506', 'score': 11.69}, {'connected_gene': 'ELMOD3', 'score': 10.19}]
chr2	GH02I084493	84493117	84494304	0.49	[{'connected_gene': 'TRABD2A', 'score': 6.82}, {'connected_gene': 'SUCLG1', 'score': 5.46}, {'connected_gene': 'GC02P084502', 'score': 0.44}, {'connected_gene': 'PIR55247', 'score': 0.37}, {'connected_gene': 'DNAH6', 'score': 0.29}]