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
ENST00000487806	[[84964007, 84964231], [84967508, 84967653], [84969328, 84969516]]	None
ENST00000370645	[[84964007, 84964231], [84967508, 84967653], [84971693, 84971984], [84972118, 84972248]]	[[84967527, 84967653], [84971693, 84971774]]
ENST00000370641	[[84964011, 84964231], [84967508, 84967653], [84971693, 84972248]]	[[84967527, 84967653], [84971693, 84971774]]
NM_005274	[[84964005, 84964231], [84967508, 84967653], [84971693, 84971984], [84972118, 84972262]]	[[84967527, 84967653], [84971693, 84971774]]

Promoter

Chrom	Start	End	Description
chr1	84971796	84971815	CAGE_peak_3_at_GNG5_5end
chr1	84971836	84971893	CAGE_peak_1_at_GNG5_5end
chr1	84972250	84972271	CAGE_peak_2_at_GNG5_5end
chr1	84972289	84972300	CAGE_peak_4_at_GNG5_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr1	GH01I084478	84478658	84480957	2.06	[{'connected_gene': 'RPF1', 'score': 557.47}, {'connected_gene': 'ENSG00000271576', 'score': 24.23}, {'connected_gene': 'C1orf52', 'score': 13.4}, {'connected_gene': 'GNG5', 'score': 8.35}, {'connected_gene': 'CTBS', 'score': 6.56}, {'connected_gene': 'SPATA1', 'score': 0.31}]
chr1	GH01I084379	84378652	84378785	0.22	[{'connected_gene': 'DNASE2B', 'score': 12.51}, {'connected_gene': 'ENSG00000199959', 'score': 9.92}, {'connected_gene': 'RPF1', 'score': 9.8}, {'connected_gene': 'SSX2IP', 'score': 5.67}, {'connected_gene': 'SAMD13', 'score': 2.54}, {'connected_gene': 'GNG5', 'score': 1.52}, {'connected_gene': 'UOX', 'score': 0.37}, {'connected_gene': 'GC01M084160', 'score': 0.31}, {'connected_gene': 'GC01M084333', 'score': 0.22}]
chr1	GH01I084436	84436802	84438200	0.51	[{'connected_gene': 'DNASE2B', 'score': 15.69}, {'connected_gene': 'SPATA1', 'score': 11.4}, {'connected_gene': 'GNG5', 'score': 11.4}, {'connected_gene': 'RPF1', 'score': 10.28}, {'connected_gene': 'UOX', 'score': 10.2}, {'connected_gene': 'GC01M084333', 'score': 0.77}]
chr1	GH01I084630	84630554	84636439	1.25	[{'connected_gene': 'LINC01555', 'score': 550.77}, {'connected_gene': 'SPATA1', 'score': 16.43}, {'connected_gene': 'GNG5', 'score': 10.81}, {'connected_gene': 'RPF1', 'score': 10.26}, {'connected_gene': 'CTBS', 'score': 4.39}, {'connected_gene': 'ENSG00000232622', 'score': 0.77}, {'connected_gene': 'LINC01461', 'score': 0.39}]
chr1	GH01I084991	84991466	84991960	0.67	[{'connected_gene': 'MCOLN2', 'score': 15.41}, {'connected_gene': 'LPAR3', 'score': 12.54}, {'connected_gene': 'MCOLN3', 'score': 11.38}, {'connected_gene': 'BCL10', 'score': 2.77}, {'connected_gene': 'GNG5', 'score': 1.86}]
chr1	GH01I084853	84853149	84855832	1.54	[{'connected_gene': 'LPAR3', 'score': 11.15}, {'connected_gene': 'BCL10', 'score': 7.98}, {'connected_gene': 'GNG5', 'score': 6.56}, {'connected_gene': 'MCOLN2', 'score': 1.38}, {'connected_gene': 'C1orf52', 'score': 1.31}, {'connected_gene': 'LOC102724892', 'score': 0.22}]
chr1	GH01I084886	84886775	84889864	0.63	[{'connected_gene': 'LPAR3', 'score': 6.98}, {'connected_gene': 'BCL10', 'score': 3.36}, {'connected_gene': 'GNG5', 'score': 2.21}, {'connected_gene': 'C1orf52', 'score': 1.11}, {'connected_gene': 'LOC102724892', 'score': 0.16}]
chr1	GH01I084846	84846439	84848361	1.54	[{'connected_gene': 'LPAR3', 'score': 12.51}, {'connected_gene': 'MCOLN2', 'score': 1.93}, {'connected_gene': 'GNG5', 'score': 1.83}, {'connected_gene': 'BCL10', 'score': 1.76}, {'connected_gene': 'C1orf52', 'score': 1.17}, {'connected_gene': 'LOC102724892', 'score': 0.25}]
chr1	GH01I084572	84572467	84575310	2.34	[{'connected_gene': 'CTBS', 'score': 563.59}, {'connected_gene': 'SPATA1', 'score': 9.88}, {'connected_gene': 'GNG5', 'score': 7.62}, {'connected_gene': 'MCOLN2', 'score': 1.97}, {'connected_gene': 'PIR44908', 'score': 0.44}, {'connected_gene': 'GC01P084567', 'score': 0.44}]
chr1	GH01I084618	84618725	84621647	1.46	[{'connected_gene': 'LINC01461', 'score': 550.77}, {'connected_gene': 'ENSG00000271576', 'score': 49.82}, {'connected_gene': 'SPATA1', 'score': 27.01}, {'connected_gene': 'CTBS', 'score': 17.51}, {'connected_gene': 'GNG5', 'score': 15.46}, {'connected_gene': 'C1orf52', 'score': 13.4}, {'connected_gene': 'RPF1', 'score': 10.88}, {'connected_gene': 'SAMD13', 'score': 9.92}, {'connected_gene': 'MCOLN3', 'score': 4.68}, {'connected_gene': 'GC01M084581', 'score': 0.28}]
chr1	GH01I084503	84503668	84507994	2.4	[{'connected_gene': 'SPATA1', 'score': 570.35}, {'connected_gene': 'GNG5', 'score': 562.87}, {'connected_gene': 'BCL10', 'score': 11.45}, {'connected_gene': 'CTBS', 'score': 8.57}, {'connected_gene': 'RPF1', 'score': 6.15}, {'connected_gene': 'MCOLN2', 'score': 1.44}]
chr1	GH01I084597	84597996	84600981	0.97	[{'connected_gene': 'SPATA1', 'score': 23.92}, {'connected_gene': 'GNG5', 'score': 11.77}, {'connected_gene': 'RPF1', 'score': 10.23}, {'connected_gene': 'CTBS', 'score': 9.12}, {'connected_gene': 'GC01M084581', 'score': 0.37}, {'connected_gene': 'LINC01461', 'score': 0.34}]
chr1	GH01I084568	84568639	84568806	0.22	[{'connected_gene': 'SPATA1', 'score': 10.94}, {'connected_gene': 'GNG5', 'score': 10.94}, {'connected_gene': 'CTBS', 'score': 5.5}, {'connected_gene': 'PIR44908', 'score': 0.77}, {'connected_gene': 'GC01P084567', 'score': 0.77}]
chr1	GH01I084611	84611601	84612200	0.4	[{'connected_gene': 'SPATA1', 'score': 16.59}, {'connected_gene': 'CTBS', 'score': 16.35}, {'connected_gene': 'RPF1', 'score': 10.89}, {'connected_gene': 'GNG5', 'score': 10.86}, {'connected_gene': 'LINC01461', 'score': 0.44}, {'connected_gene': 'GC01M084581', 'score': 0.31}]
chr1	GH01I084432	84432853	84436199	0.93	[{'connected_gene': 'GC01M084333', 'score': 550.77}, {'connected_gene': 'DNASE2B', 'score': 16.05}, {'connected_gene': 'GNG5', 'score': 11.39}, {'connected_gene': 'SPATA1', 'score': 11.39}, {'connected_gene': 'UOX', 'score': 11.11}, {'connected_gene': 'SAMD13', 'score': 10.78}, {'connected_gene': 'RPF1', 'score': 10.35}, {'connected_gene': 'ENSG00000199959', 'score': 10.29}]