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
ENST00000225777	[[76164638, 76164796], [76166897, 76167135], [76167590, 76167730], [76167819, 76169608]]	[[76164697, 76164796], [76166897, 76167135], [76167590, 76167730], [76167819, 76168017]]
ENST00000585591	[[76164674, 76164796], [76166897, 76167135], [76167590, 76167730], [76167819, 76168023], [76169171, 76169416]]	[[76164697, 76164796], [76166897, 76167135], [76167590, 76167730], [76167819, 76168017]]
ENST00000589183	[[76164682, 76164796], [76166692, 76167135], [76167819, 76168058]]	[[76164697, 76164796], [76166692, 76166935]]
ENST00000589711	[[76164684, 76164796], [76167590, 76167730], [76167819, 76169608]]	[[76164697, 76164796], [76167590, 76167689]]
ENST00000591770	[[76164690, 76164796], [76166897, 76167655]]	None
ENST00000588282	[[76164691, 76164796], [76166897, 76167135], [76167590, 76168800]]	[[76164697, 76164796], [76166897, 76167135], [76167590, 76168081]]
ENST00000589168	[[76164698, 76164796], [76166897, 76167135], [76167819, 76169608]]	[[76164698, 76164796], [76166897, 76167135], [76167819, 76167890]]
ENST00000590201	[[76165238, 76165310], [76166897, 76167135], [76167590, 76167730], [76167819, 76169608]]	[[76166966, 76167135], [76167590, 76167730], [76167819, 76168017]]
ENST00000592456	[[76165764, 76168800]]	None
NM_001320523	[[76164625, 76164796], [76166897, 76167135], [76167819, 76169009]]	[[76164697, 76164796], [76166897, 76167135], [76167819, 76167890]]
NM_004710	[[76164625, 76164796], [76166897, 76167135], [76167590, 76167730], [76167819, 76169009]]	[[76164697, 76164796], [76166897, 76167135], [76167590, 76167730], [76167819, 76168017]]

Promoter

Chrom	Start	End	Description
chr17	76164646	76164685	CAGE_peak_1_at_SYNGR2_5end
chr17	76165247	76165265	CAGE_peak_2_at_SYNGR2_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr17	GH17I078197	78197151	78200553	1.38	[{'connected_gene': 'PGS1', 'score': 18.88}, {'connected_gene': 'USP36', 'score': 17.33}, {'connected_gene': 'TMEM235', 'score': 12.04}, {'connected_gene': 'SYNGR2', 'score': 11.91}, {'connected_gene': 'C17orf99', 'score': 11.85}, {'connected_gene': 'TNRC6C-AS1', 'score': 11.48}, {'connected_gene': 'ENSG00000200063', 'score': 10.97}, {'connected_gene': 'RNU6-625P', 'score': 10.22}, {'connected_gene': 'SEPT9', 'score': 9.72}, {'connected_gene': 'SOCS3', 'score': 3.88}, {'connected_gene': 'TMC6', 'score': 2.12}, {'connected_gene': 'TMC8', 'score': 1.31}, {'connected_gene': 'PIR53496', 'score': 0.44}, {'connected_gene': 'TK1', 'score': 0.39}, {'connected_gene': 'AFMID', 'score': 0.39}]
chr17	GH17I078136	78136606	78142857	1.43	[{'connected_gene': 'SYNGR2', 'score': 13.56}, {'connected_gene': 'TK1', 'score': 12.02}, {'connected_gene': 'AFMID', 'score': 12.02}, {'connected_gene': 'TNRC6C-AS1', 'score': 11.9}, {'connected_gene': 'TMC8', 'score': 7.71}, {'connected_gene': 'TMC6', 'score': 6.36}, {'connected_gene': 'C17orf99', 'score': 0.44}]
chr17	GH17I078182	78182491	78182899	0.31	[{'connected_gene': 'SYNGR2', 'score': 6.46}, {'connected_gene': 'TK1', 'score': 0.77}, {'connected_gene': 'AFMID', 'score': 0.77}, {'connected_gene': 'GC17P078174', 'score': 0.39}]
chr17	GH17I078150	78150626	78152263	0.98	[{'connected_gene': 'SYNGR2', 'score': 11.31}, {'connected_gene': 'EIF5AP2', 'score': 0.44}, {'connected_gene': 'C17orf99', 'score': 0.44}]
chr17	GH17I078152	78152659	78156139	1.25	[{'connected_gene': 'SYNGR2', 'score': 11.58}, {'connected_gene': 'AFMID', 'score': 5.65}, {'connected_gene': 'TMC8', 'score': 1.97}, {'connected_gene': 'EIF5AP2', 'score': 0.77}, {'connected_gene': 'C17orf99', 'score': 0.44}]
chr17	GH17I078166	78166281	78166924	0.43	[{'connected_gene': 'SYNGR2', 'score': 561.59}, {'connected_gene': 'GC17M078158', 'score': 0.44}, {'connected_gene': 'C17orf99', 'score': 0.34}]
chr17	GH17I078163	78163881	78164884	0.52	[{'connected_gene': 'SYNGR2', 'score': 6.52}, {'connected_gene': 'GC17M078158', 'score': 0.44}, {'connected_gene': 'C17orf99', 'score': 0.37}]
chr17	GH17I078167	78167935	78170404	2.46	[{'connected_gene': 'SYNGR2', 'score': 564.28}, {'connected_gene': 'PIR46523', 'score': 550.77}, {'connected_gene': 'GC17M078168', 'score': 550.77}, {'connected_gene': 'GC17P078172', 'score': 550.77}, {'connected_gene': 'PIR60455', 'score': 550.77}, {'connected_gene': 'GC17P078173', 'score': 550.77}]
chr17	GH17I078294	78294900	78295089	0.51	[{'connected_gene': 'SOCS3', 'score': 12.24}, {'connected_gene': 'PGS1', 'score': 11.9}, {'connected_gene': 'ENSG00000200063', 'score': 11.87}, {'connected_gene': 'TK1', 'score': 10.43}, {'connected_gene': 'AFMID', 'score': 10.43}, {'connected_gene': 'SYNGR2', 'score': 9.96}, {'connected_gene': 'C17orf99', 'score': 9.94}, {'connected_gene': 'LINC01993', 'score': 0.37}, {'connected_gene': 'LOC105371912', 'score': 0.34}]
chr17	GH17I078051	78051509	78052858	0.54	[{'connected_gene': 'TK1', 'score': 10.71}, {'connected_gene': 'AFMID', 'score': 10.71}, {'connected_gene': 'TNRC6C', 'score': 10.19}, {'connected_gene': 'C17orf99', 'score': 9.79}, {'connected_gene': 'SYNGR2', 'score': 9.75}, {'connected_gene': 'UBE2V2P2', 'score': 0.39}, {'connected_gene': 'ENSG00000279600', 'score': 0.26}]
chr17	GH17I078094	78094582	78099339	0.2	[{'connected_gene': 'TNRC6C', 'score': 14.62}, {'connected_gene': 'AFMID', 'score': 11.68}, {'connected_gene': 'TK1', 'score': 11.67}, {'connected_gene': 'C17orf99', 'score': 11.28}, {'connected_gene': 'SYNGR2', 'score': 11.03}, {'connected_gene': 'GC17P078105', 'score': 0.44}, {'connected_gene': 'RNU6-625P', 'score': 0.29}]
chr17	GH17I078089	78089099	78090851	0.38	[{'connected_gene': 'TNRC6C', 'score': 15.36}, {'connected_gene': 'TNRC6C-AS1', 'score': 12.43}, {'connected_gene': 'TK1', 'score': 11.67}, {'connected_gene': 'AFMID', 'score': 11.67}, {'connected_gene': 'C17orf99', 'score': 11.4}, {'connected_gene': 'SYNGR2', 'score': 11.02}, {'connected_gene': 'PGS1', 'score': 10.29}, {'connected_gene': 'RNU1-80P', 'score': 9.93}, {'connected_gene': 'GC17P078105', 'score': 0.37}, {'connected_gene': 'RNU6-625P', 'score': 0.34}]
chr17	GH17I078228	78228342	78229033	0.31	[{'connected_gene': 'BIRC5', 'score': 12.6}, {'connected_gene': 'TK1', 'score': 11.68}, {'connected_gene': 'AFMID', 'score': 11.68}, {'connected_gene': 'SYNGR2', 'score': 10.99}, {'connected_gene': 'C17orf99', 'score': 10.96}, {'connected_gene': 'TNRC6C-AS1', 'score': 10.8}, {'connected_gene': 'PGS1', 'score': 10.68}, {'connected_gene': 'ENSG00000200063', 'score': 10.66}, {'connected_gene': 'GC17M078223', 'score': 0.77}, {'connected_gene': 'TMEM235', 'score': 0.77}]
chr17	GH17I078226	78226500	78228249	1.07	[{'connected_gene': 'BIRC5', 'score': 13.63}, {'connected_gene': 'TK1', 'score': 11.74}, {'connected_gene': 'AFMID', 'score': 11.74}, {'connected_gene': 'SYNGR2', 'score': 11.15}, {'connected_gene': 'TNRC6C-AS1', 'score': 11.11}, {'connected_gene': 'C17orf99', 'score': 11.11}, {'connected_gene': 'PGS1', 'score': 10.87}, {'connected_gene': 'ENSG00000200063', 'score': 10.66}, {'connected_gene': 'GC17M078223', 'score': 0.77}, {'connected_gene': 'TMEM235', 'score': 0.77}]
chr17	GH17I078120	78120560	78135339	2.78	[{'connected_gene': 'TMC8', 'score': 577.84}, {'connected_gene': 'TMC6', 'score': 570.92}, {'connected_gene': 'USP36', 'score': 20.3}, {'connected_gene': 'SYNGR2', 'score': 12.67}, {'connected_gene': 'TK1', 'score': 11.66}, {'connected_gene': 'AFMID', 'score': 11.66}, {'connected_gene': 'TNRC6C-AS1', 'score': 7.9}, {'connected_gene': 'ENGASE', 'score': 5.38}, {'connected_gene': 'PGS1', 'score': 4.92}, {'connected_gene': 'TNRC6C', 'score': 3.97}, {'connected_gene': 'GC17M078129', 'score': 0.77}, {'connected_gene': 'GC17M078132', 'score': 0.77}]
chr17	GH17I078183	78183700	78188761	2.3	[{'connected_gene': 'AFMID', 'score': 560.11}, {'connected_gene': 'TK1', 'score': 557.31}, {'connected_gene': 'SEPT9', 'score': 13.81}, {'connected_gene': 'USP36', 'score': 12.46}, {'connected_gene': 'SYNGR2', 'score': 6.24}, {'connected_gene': 'TMEM235', 'score': 5.77}, {'connected_gene': 'GC17P078174', 'score': 0.39}]
chr17	GH17I078170	78170995	78177122	1.57	[{'connected_gene': 'AFMID', 'score': 14.35}, {'connected_gene': 'C17orf99', 'score': 12.69}, {'connected_gene': 'TNRC6C-AS1', 'score': 12.05}, {'connected_gene': 'SYNGR2', 'score': 9.26}, {'connected_gene': 'TK1', 'score': 6.46}, {'connected_gene': 'TMC6', 'score': 2.94}, {'connected_gene': 'PGS1', 'score': 1.8}, {'connected_gene': 'SOCS3', 'score': 1.31}, {'connected_gene': 'GC17P078174', 'score': 0.77}]
chr17	GH17I078179	78178838	78181112	0.94	[{'connected_gene': 'C17orf99', 'score': 11.87}, {'connected_gene': 'TNRC6C-AS1', 'score': 11.23}, {'connected_gene': 'AFMID', 'score': 9.84}, {'connected_gene': 'SYNGR2', 'score': 5.53}, {'connected_gene': 'GC17P078174', 'score': 0.44}, {'connected_gene': 'TK1', 'score': 0.44}]
chr17	GH17I078112	78112369	78114888	1.13	[{'connected_gene': 'TNRC6C-AS1', 'score': 555.78}, {'connected_gene': 'USP36', 'score': 13.91}, {'connected_gene': 'TK1', 'score': 12.37}, {'connected_gene': 'AFMID', 'score': 12.37}, {'connected_gene': 'C17orf99', 'score': 12.28}, {'connected_gene': 'SYNGR2', 'score': 12.22}, {'connected_gene': 'RNU6-625P', 'score': 11.15}, {'connected_gene': 'GC17P078107', 'score': 0.44}, {'connected_gene': 'TMC6', 'score': 0.37}, {'connected_gene': 'TMC8', 'score': 0.37}]
chr17	GH17I078110	78110439	78111612	0.56	[{'connected_gene': 'TNRC6C-AS1', 'score': 550.77}, {'connected_gene': 'C17orf99', 'score': 12.27}, {'connected_gene': 'SYNGR2', 'score': 12.21}, {'connected_gene': 'AFMID', 'score': 11.54}, {'connected_gene': 'TK1', 'score': 11.53}, {'connected_gene': 'RNU6-625P', 'score': 11.17}, {'connected_gene': 'GC17P078108', 'score': 0.77}, {'connected_gene': 'GC17P078107', 'score': 0.77}, {'connected_gene': 'TMC6', 'score': 0.34}]
chr17	GH17I078058	78058588	78059839	0.86	[{'connected_gene': 'TNRC6C-AS1', 'score': 17.13}, {'connected_gene': 'C17orf99', 'score': 10.97}, {'connected_gene': 'TK1', 'score': 10.94}, {'connected_gene': 'AFMID', 'score': 10.94}, {'connected_gene': 'SYNGR2', 'score': 10.83}, {'connected_gene': 'TNRC6C', 'score': 10.75}, {'connected_gene': 'UBE2V2P2', 'score': 0.44}, {'connected_gene': 'ENSG00000279600', 'score': 0.23}]
chr17	GH17I078159	78158625	78161177	1.09	[{'connected_gene': 'GC17M078158', 'score': 550.77}, {'connected_gene': 'SYNGR2', 'score': 11.55}, {'connected_gene': 'EIF5AP2', 'score': 0.77}, {'connected_gene': 'C17orf99', 'score': 0.39}]
chr17	GH17I078171	78170601	78170800	0.77	[{'connected_gene': 'GC17P078174', 'score': 550.77}, {'connected_gene': 'PIR46523', 'score': 550.77}, {'connected_gene': 'GC17M078168', 'score': 550.77}, {'connected_gene': 'GC17P078172', 'score': 550.77}, {'connected_gene': 'PIR60455', 'score': 550.77}, {'connected_gene': 'GC17P078173', 'score': 550.77}, {'connected_gene': 'SYNGR2', 'score': 6.0}]
chr17	GH17I078158	78158218	78158588	0.49	[{'connected_gene': 'GC17M078158', 'score': 550.77}, {'connected_gene': 'EIF5AP2', 'score': 550.77}, {'connected_gene': 'SYNGR2', 'score': 8.72}, {'connected_gene': 'C17orf99', 'score': 4.49}]