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
ENST00000418388	[[139006426, 139008870], [139010330, 139010709]]	[[139008326, 139008746]]
ENST00000561457	[[139006427, 139008870], [139010330, 139010731]]	[[139008412, 139008820]]
ENST00000557985	[[139006434, 139006796], [139007301, 139008870], [139010330, 139010380]]	[[139008326, 139008746]]
ENST00000447934	[[139008631, 139008870], [139009711, 139010120]]	[[139008631, 139008746]]
ENST00000448040	[[139008649, 139008870], [139009917, 139010284]]	[[139008649, 139008746]]

Promoter

Chrom	Start	End	Description
chr9	139010696	139010764	CAGE_peak_1_at_C9orf69_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr9	GH09I136143	136143395	136143524	0.7	[{'connected_gene': 'TMEM250', 'score': 5.15}, {'connected_gene': 'ENSG00000275329', 'score': 0.34}, {'connected_gene': 'LHX3', 'score': 0.21}]
chr9	GH09I136116	136116454	136121105	2.25	[{'connected_gene': 'TMEM250', 'score': 558.24}, {'connected_gene': 'PIR59111', 'score': 550.77}, {'connected_gene': 'NACC2', 'score': 13.29}, {'connected_gene': 'UBAC1', 'score': 11.8}, {'connected_gene': 'LOC105376323', 'score': 8.13}, {'connected_gene': 'PIR51204', 'score': 0.77}, {'connected_gene': 'GC09M136118', 'score': 0.77}]
chr9	GH09I136103	136103201	136105466	0.97	[{'connected_gene': 'TMEM250', 'score': 6.2}, {'connected_gene': 'LOC105376323', 'score': 0.44}, {'connected_gene': 'NACC2', 'score': 0.44}]
chr9	GH09I136130	136130513	136134601	1.34	[{'connected_gene': 'SNHG7', 'score': 27.81}, {'connected_gene': 'SDCCAG3', 'score': 27.32}, {'connected_gene': 'SEC16A', 'score': 13.4}, {'connected_gene': 'INPP5E', 'score': 13.12}, {'connected_gene': 'MAN1B1', 'score': 11.95}, {'connected_gene': 'SNAPC4', 'score': 10.57}, {'connected_gene': 'LCNL1', 'score': 6.24}, {'connected_gene': 'TMEM250', 'score': 5.6}, {'connected_gene': 'LOC105376323', 'score': 5.09}, {'connected_gene': 'ENSG00000275329', 'score': 0.39}, {'connected_gene': 'LHX3', 'score': 0.19}]
chr9	GH09I136563	136563189	136573895	2.1	[{'connected_gene': 'EXD3', 'score': 45.68}, {'connected_gene': 'INPP5E', 'score': 44.32}, {'connected_gene': 'ANAPC2', 'score': 39.99}, {'connected_gene': 'QSOX2', 'score': 29.21}, {'connected_gene': 'SNHG7', 'score': 28.76}, {'connected_gene': 'SNAPC4', 'score': 20.49}, {'connected_gene': 'SDCCAG3', 'score': 20.43}, {'connected_gene': 'MAN1B1', 'score': 17.88}, {'connected_gene': 'SEC16A', 'score': 16.36}, {'connected_gene': 'NOTCH1', 'score': 13.38}, {'connected_gene': 'CCDC183-AS1', 'score': 9.84}, {'connected_gene': 'FUT7', 'score': 2.92}, {'connected_gene': 'TMEM250', 'score': 1.5}, {'connected_gene': 'NACC2', 'score': 1.24}, {'connected_gene': 'MIR4674', 'score': 0.34}, {'connected_gene': 'LINC01451', 'score': 0.25}]
chr9	GH09I136105	136105536	136111465	1.76	[{'connected_gene': 'LOC105376323', 'score': 559.71}, {'connected_gene': 'INPP5E', 'score': 66.42}, {'connected_gene': 'QSOX2', 'score': 20.77}, {'connected_gene': 'SNAPC4', 'score': 20.45}, {'connected_gene': 'MAN1B1', 'score': 17.87}, {'connected_gene': 'CCDC183-AS1', 'score': 9.79}, {'connected_gene': 'TMEM250', 'score': 7.83}, {'connected_gene': 'SEC16A', 'score': 4.96}, {'connected_gene': 'NACC2', 'score': 0.39}]
chr9	GH09I136136	136136659	136137942	0.43	[{'connected_gene': 'UBAC1', 'score': 11.48}, {'connected_gene': 'NACC2', 'score': 11.11}, {'connected_gene': 'TMEM250', 'score': 7.91}, {'connected_gene': 'ENSG00000275329', 'score': 0.39}, {'connected_gene': 'LHX3', 'score': 0.2}]
chr9	GH09I136114	136114309	136114625	0.38	[{'connected_gene': 'PIR33384', 'score': 550.77}, {'connected_gene': 'GC09M136119', 'score': 550.77}, {'connected_gene': 'UBAC1', 'score': 11.49}, {'connected_gene': 'TMEM250', 'score': 0.77}, {'connected_gene': 'PIR35795', 'score': 0.77}]
chr9	GH09I136112	136112257	136114162	0.69	[{'connected_gene': 'PIR35795', 'score': 550.77}, {'connected_gene': 'UBAC1', 'score': 11.49}, {'connected_gene': 'LOC105376323', 'score': 8.69}, {'connected_gene': 'PIR33384', 'score': 0.77}, {'connected_gene': 'GC09M136119', 'score': 0.77}, {'connected_gene': 'TMEM250', 'score': 0.44}]