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
ENST00000381295	[[56719781, 56720119], [56724479, 56724613], [56726576, 56726707], [56730392, 56730552], [56734501, 56734689], [56736843, 56737071], [56737266, 56737399], [56738014, 56738124], [56744082, 56744232], [56749988, 56750094], [56755053, 56755098], [56756388, 56756552], [56757480, 56757588], [56758800, 56758877], [56759717, 56759946], [56762882, 56763066], [56765850, 56766050], [56768509, 56768704], [56770508, 56771179]]	[[56724489, 56724613], [56726576, 56726707], [56730392, 56730552], [56734501, 56734689], [56736843, 56737071], [56737266, 56737399], [56738014, 56738124], [56744082, 56744232], [56749988, 56750094], [56755053, 56755098], [56756388, 56756552], [56757480, 56757588], [56758800, 56758877], [56759717, 56759946], [56762882, 56763066], [56765850, 56766050], [56768509, 56768704], [56770508, 56770661]]
ENST00000346134	[[56719840, 56719963], [56724479, 56724613], [56726576, 56726707], [56730392, 56730552], [56734501, 56734689], [56736843, 56737071], [56737266, 56737399], [56738014, 56738124], [56744082, 56744232], [56749988, 56750094], [56755053, 56755098], [56756388, 56756552], [56757480, 56757588], [56758800, 56758877], [56759717, 56759946], [56762882, 56763066], [56765850, 56766050], [56768509, 56768704], [56770508, 56771200]]	[[56724489, 56724613], [56726576, 56726707], [56730392, 56730552], [56734501, 56734689], [56736843, 56737071], [56737266, 56737399], [56738014, 56738124], [56744082, 56744232], [56749988, 56750094], [56755053, 56755098], [56756388, 56756552], [56757480, 56757588], [56758800, 56758877], [56759717, 56759946], [56762882, 56763066], [56765850, 56766050], [56768509, 56768704], [56770508, 56770661]]
ENST00000349598	[[56719904, 56719963], [56724479, 56724613], [56726576, 56726707], [56730392, 56730552], [56734501, 56734689], [56736843, 56737071], [56737266, 56737399], [56738014, 56738124], [56744082, 56744232], [56749988, 56750094], [56756388, 56756552], [56757480, 56757588], [56758800, 56758877], [56759717, 56759946], [56762882, 56763066], [56765850, 56766050], [56768509, 56768704], [56770508, 56771200]]	[[56724489, 56724613], [56726576, 56726707], [56730392, 56730552], [56734501, 56734689], [56736843, 56737071], [56737266, 56737399], [56738014, 56738124], [56744082, 56744232], [56749988, 56750094], [56756388, 56756552], [56757480, 56757588], [56758800, 56758877], [56759717, 56759946], [56762882, 56763066], [56765850, 56766050], [56768509, 56768704], [56770508, 56770661]]
ENST00000511971	[[56748892, 56750094], [56755053, 56755098], [56756388, 56756552], [56757480, 56757588], [56758800, 56758877], [56759717, 56759946], [56762882, 56763066], [56765850, 56766050], [56766724, 56766858], [56768509, 56768704], [56770508, 56771173]]	None
ENST00000509302	[[56749933, 56750094], [56756388, 56756552], [56757480, 56757588], [56758800, 56758877], [56759717, 56759793]]	None
ENST00000505501	[[56724504, 56724613], [56726576, 56726707], [56730392, 56730552], [56734501, 56734919]]	None
ENST00000504321	[[56754975, 56755098], [56756388, 56756552], [56757480, 56757588], [56758780, 56758877], [56759717, 56759807]]	None
ENST00000506936	[[56768292, 56768704], [56770508, 56770743]]	None
NM_178237	[[56719815, 56719963], [56724479, 56724613], [56726576, 56726707], [56730392, 56730552], [56734501, 56734689], [56736843, 56737071], [56737266, 56737399], [56738014, 56738124], [56744082, 56744232], [56749988, 56750094], [56756388, 56756552], [56757480, 56757588], [56758800, 56758877], [56759717, 56759946], [56762882, 56763066], [56765850, 56766050], [56768509, 56768704], [56770508, 56771244]]	[[56724489, 56724613], [56726576, 56726707], [56730392, 56730552], [56734501, 56734689], [56736843, 56737071], [56737266, 56737399], [56738014, 56738124], [56744082, 56744232], [56749988, 56750094], [56756388, 56756552], [56757480, 56757588], [56758800, 56758877], [56759717, 56759946], [56762882, 56763066], [56765850, 56766050], [56768509, 56768704], [56770508, 56770661]]
NM_018261	[[56719815, 56719963], [56724479, 56724613], [56726576, 56726707], [56730392, 56730552], [56734501, 56734689], [56736843, 56737071], [56737266, 56737399], [56738014, 56738124], [56744082, 56744232], [56749988, 56750094], [56755053, 56755098], [56756388, 56756552], [56757480, 56757588], [56758800, 56758877], [56759717, 56759946], [56762882, 56763066], [56765850, 56766050], [56768509, 56768704], [56770508, 56771244]]	[[56724489, 56724613], [56726576, 56726707], [56730392, 56730552], [56734501, 56734689], [56736843, 56737071], [56737266, 56737399], [56738014, 56738124], [56744082, 56744232], [56749988, 56750094], [56755053, 56755098], [56756388, 56756552], [56757480, 56757588], [56758800, 56758877], [56759717, 56759946], [56762882, 56763066], [56765850, 56766050], [56768509, 56768704], [56770508, 56770661]]
NM_001024924	[[56719815, 56720119], [56724479, 56724613], [56726576, 56726707], [56730392, 56730552], [56734501, 56734689], [56736843, 56737071], [56737266, 56737399], [56738014, 56738124], [56744082, 56744232], [56749988, 56750094], [56755053, 56755098], [56756388, 56756552], [56757480, 56757588], [56758800, 56758877], [56759717, 56759946], [56762882, 56763066], [56765850, 56766050], [56768509, 56768704], [56770508, 56771244]]	[[56724489, 56724613], [56726576, 56726707], [56730392, 56730552], [56734501, 56734689], [56736843, 56737071], [56737266, 56737399], [56738014, 56738124], [56744082, 56744232], [56749988, 56750094], [56755053, 56755098], [56756388, 56756552], [56757480, 56757588], [56758800, 56758877], [56759717, 56759946], [56762882, 56763066], [56765850, 56766050], [56768509, 56768704], [56770508, 56770661]]

Promoter

Chrom	Start	End	Description
chr4	56719805	56719963	CAGE_peak_1_at_EXOC1_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr4	GH04I055946	55946152	55950874	2.27	[{'connected_gene': 'CEP135', 'score': 567.57}, {'connected_gene': 'LOC105377663', 'score': 550.77}, {'connected_gene': 'RN7SKP30', 'score': 11.89}, {'connected_gene': 'EXOC1', 'score': 6.18}, {'connected_gene': 'GC04P055928', 'score': 0.37}]
chr4	GH04I055853	55853001	55854861	2	[{'connected_gene': 'EXOC1', 'score': 550.77}, {'connected_gene': 'AASDH', 'score': 13.05}, {'connected_gene': 'GC04M055824', 'score': 0.34}]
chr4	GH04I055906	55906525	55907565	0.54	[{'connected_gene': 'EXOC1', 'score': 18.33}, {'connected_gene': 'RNU6-652P', 'score': 11.06}, {'connected_gene': 'GC04P055926', 'score': 0.37}, {'connected_gene': 'LOC105377663', 'score': 0.26}]
chr4	GH04I055851	55851612	55852484	0.65	[{'connected_gene': 'EXOC1', 'score': 557.76}, {'connected_gene': 'GC04M055824', 'score': 0.34}, {'connected_gene': 'LOC105377661', 'score': 0.31}]
chr4	GH04I055864	55864744	55867636	1	[{'connected_gene': 'EXOC1', 'score': 6.44}, {'connected_gene': 'GC04M055824', 'score': 0.44}]
chr4	GH04I055893	55893880	55894379	0.54	[{'connected_gene': 'AASDH', 'score': 10.63}, {'connected_gene': 'EXOC1', 'score': 6.77}, {'connected_gene': 'RNU6-652P', 'score': 0.44}, {'connected_gene': 'GC04P055926', 'score': 0.29}, {'connected_gene': 'LOC105377663', 'score': 0.23}]
chr4	GH04I055894	55893635	55893784	0.43	[{'connected_gene': 'RNU6-652P', 'score': 0.44}, {'connected_gene': 'GC04P055926', 'score': 0.29}, {'connected_gene': 'EXOC1', 'score': 0.26}, {'connected_gene': 'LOC105377663', 'score': 0.22}]
chr4	GH04I055834	55834454	55834727	0.53	[{'connected_gene': 'LOC105377661', 'score': 0.44}, {'connected_gene': 'EXOC1L', 'score': 0.39}, {'connected_gene': 'EXOC1', 'score': 0.37}, {'connected_gene': 'GC04M055824', 'score': 0.26}]
chr4	GH04I055929	55929108	55929442	0.28	[{'connected_gene': 'GC04P055928', 'score': 550.77}, {'connected_gene': 'CEP135', 'score': 5.45}, {'connected_gene': 'EXOC1', 'score': 1.56}, {'connected_gene': 'LOC105377663', 'score': 0.37}]