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
ENST00000368811	[[151955390, 151955800], [151958574, 151958727], [151966227, 151966866]]	[[151955638, 151955800], [151958574, 151958706]]
ENST00000368809	[[151955393, 151955800], [151958574, 151958727], [151964998, 151965054]]	[[151955638, 151955800], [151958574, 151958706]]
ENST00000478574	[[151955707, 151955800], [151956552, 151956659], [151958574, 151958727], [151966227, 151966300]]	None
ENST00000478348	[[151957633, 151957811], [151958574, 151958727], [151966227, 151966305]]	None
NM_002966	[[151955385, 151955800], [151958574, 151958727], [151966227, 151966714]]	[[151955638, 151955800], [151958574, 151958706]]

Promoter

Chrom	Start	End	Description
chr1	151958631	151958649	CAGE_peak_2_at_S100A10_5end
chr1	151958718	151958736	CAGE_peak_5_at_S100A10_5end
chr1	151965048	151965062	CAGE_peak_6_at_S100A10_5end
chr1	151965075	151965102	CAGE_peak_7_at_S100A10_5end
chr1	151965111	151965132	CAGE_peak_9_at_S100A10_5end
chr1	151966278	151966348	CAGE_peak_1_at_S100A10_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr1	GH01I152045	152045329	152051879	2.29	[{'connected_gene': 'S100A11', 'score': 556.34}, {'connected_gene': 'LOC101927949', 'score': 550.77}, {'connected_gene': 'PI4KB', 'score': 27.19}, {'connected_gene': 'ZNF687', 'score': 20.37}, {'connected_gene': 'FLG-AS1', 'score': 15.98}, {'connected_gene': 'GABPB2', 'score': 12.33}, {'connected_gene': 'PIP5K1A', 'score': 11.71}, {'connected_gene': 'MRPL9', 'score': 10.49}, {'connected_gene': 'ENSG00000229021', 'score': 10.41}, {'connected_gene': 'RN7SL444P', 'score': 10.15}, {'connected_gene': 'PSMB4', 'score': 9.99}, {'connected_gene': 'S100A10', 'score': 6.29}, {'connected_gene': 'TDRKH', 'score': 3.98}, {'connected_gene': 'SNX27', 'score': 1.11}]
chr1	GH01I151969	151969509	151969633	0.66	[{'connected_gene': 'S100A10', 'score': 14.49}, {'connected_gene': 'ENSG00000229021', 'score': 13.37}, {'connected_gene': 'THEM5', 'score': 10.35}, {'connected_gene': 'S100A11', 'score': 9.82}, {'connected_gene': 'CGN', 'score': 9.54}, {'connected_gene': 'ENSG00000252840', 'score': 9.54}, {'connected_gene': 'LOC105371441', 'score': 0.37}, {'connected_gene': 'KRT8P28', 'score': 0.37}]
chr1	GH01I151940	151940320	151947875	1.8	[{'connected_gene': 'POGZ', 'score': 172.47}, {'connected_gene': 'GABPB2', 'score': 157.2}, {'connected_gene': 'PI4KB', 'score': 116.29}, {'connected_gene': 'MRPL9', 'score': 100.62}, {'connected_gene': 'PIP5K1A', 'score': 74.76}, {'connected_gene': 'LYSMD1', 'score': 67.85}, {'connected_gene': 'ENSG00000229021', 'score': 32.32}, {'connected_gene': 'HRNR', 'score': 27.3}, {'connected_gene': 'THEM4', 'score': 23.72}, {'connected_gene': 'ZNF687', 'score': 21.53}, {'connected_gene': 'C1orf56', 'score': 15.7}, {'connected_gene': 'FLG-AS1', 'score': 12.82}, {'connected_gene': 'PSMB4', 'score': 11.78}, {'connected_gene': 'RN7SL444P', 'score': 9.76}, {'connected_gene': 'LINGO4', 'score': 4.4}, {'connected_gene': 'TDRKH', 'score': 4.29}, {'connected_gene': 'S100A10', 'score': 2.81}, {'connected_gene': 'GC01M151949', 'score': 0.44}]
chr1	GH01I151904	151904471	151906890	1.4	[{'connected_gene': 'THEM4', 'score': 26.86}, {'connected_gene': 'SETDB1', 'score': 17.65}, {'connected_gene': 'PI4KB', 'score': 16.71}, {'connected_gene': 'MRPL9', 'score': 16.11}, {'connected_gene': 'PIP5K1A', 'score': 15.95}, {'connected_gene': 'GABPB2', 'score': 15.76}, {'connected_gene': 'ZNF687', 'score': 11.29}, {'connected_gene': 'ENSG00000229021', 'score': 11.04}, {'connected_gene': 'S100A10', 'score': 11.04}, {'connected_gene': 'POGZ', 'score': 10.84}, {'connected_gene': 'THEM5', 'score': 10.31}, {'connected_gene': 'TMOD4', 'score': 4.43}, {'connected_gene': 'PIR59936', 'score': 0.39}]
chr1	GH01I151983	151983705	151985995	0.83	[{'connected_gene': 'THEM4', 'score': 29.59}, {'connected_gene': 'ENSG00000229021', 'score': 20.32}, {'connected_gene': 'S100A11', 'score': 10.1}, {'connected_gene': 'THEM5', 'score': 9.95}, {'connected_gene': 'LOC105371441', 'score': 0.77}, {'connected_gene': 'S100A10', 'score': 0.44}, {'connected_gene': 'KRT8P28', 'score': 0.29}]
chr1	GH01I151953	151953177	151955444	0.63	[{'connected_gene': 'THEM4', 'score': 33.4}, {'connected_gene': 'ENSG00000229021', 'score': 17.77}, {'connected_gene': 'S100A10', 'score': 12.0}, {'connected_gene': 'LINGO4', 'score': 4.78}, {'connected_gene': 'KRT8P28', 'score': 0.77}, {'connected_gene': 'LOC105371441', 'score': 0.29}]
chr1	GH01I151933	151933945	151937537	1.47	[{'connected_gene': 'THEM4', 'score': 35.46}, {'connected_gene': 'ENSG00000229021', 'score': 27.41}, {'connected_gene': 'S100A10', 'score': 14.41}, {'connected_gene': 'LINGO4', 'score': 13.97}, {'connected_gene': 'THEM5', 'score': 10.92}, {'connected_gene': 'C1orf56', 'score': 4.76}, {'connected_gene': 'GC01M151949', 'score': 0.37}]
chr1	GH01I151919	151919758	151922726	1.01	[{'connected_gene': 'THEM4', 'score': 21.62}, {'connected_gene': 'ENSG00000229021', 'score': 11.43}, {'connected_gene': 'S100A10', 'score': 11.43}, {'connected_gene': 'THEM5', 'score': 10.11}, {'connected_gene': 'C2CD4D', 'score': 9.97}, {'connected_gene': 'ENSG00000201134', 'score': 9.97}, {'connected_gene': 'LOC100132111', 'score': 9.96}, {'connected_gene': 'C1orf56', 'score': 4.76}, {'connected_gene': 'TMOD4', 'score': 4.42}, {'connected_gene': 'GC01M151949', 'score': 0.31}]
chr1	GH01I151891	151891665	151891814	0.57	[{'connected_gene': 'THEM4', 'score': 11.46}, {'connected_gene': 'S100A10', 'score': 11.43}, {'connected_gene': 'ENSG00000229021', 'score': 11.43}, {'connected_gene': 'THEM5', 'score': 11.12}, {'connected_gene': 'PIR59936', 'score': 0.77}, {'connected_gene': 'PIR54702', 'score': 0.37}]
chr1	GH01I151885	151885278	151888456	0.64	[{'connected_gene': 'THEM4', 'score': 33.32}, {'connected_gene': 'ENSG00000229021', 'score': 26.48}, {'connected_gene': 'S100A10', 'score': 11.41}, {'connected_gene': 'THEM5', 'score': 10.81}, {'connected_gene': 'PIR59936', 'score': 0.44}, {'connected_gene': 'PIR54702', 'score': 0.39}]
chr1	GH01I151924	151924805	151924954	0.6	[{'connected_gene': 'THEM4', 'score': 23.61}, {'connected_gene': 'S100A10', 'score': 11.44}, {'connected_gene': 'ENSG00000229021', 'score': 11.44}, {'connected_gene': 'THEM5', 'score': 9.77}, {'connected_gene': 'GC01M151949', 'score': 0.31}]
chr1	GH01I152026	152026331	152028011	0.38	[{'connected_gene': 'LOC105371442', 'score': 550.77}, {'connected_gene': 'S100A11', 'score': 18.06}, {'connected_gene': 'ENSG00000229021', 'score': 10.93}, {'connected_gene': 'S100A10', 'score': 10.93}, {'connected_gene': 'THEM4', 'score': 10.26}, {'connected_gene': 'RPTN', 'score': 10.03}, {'connected_gene': 'LINGO4', 'score': 9.03}, {'connected_gene': 'TDRKH', 'score': 5.42}, {'connected_gene': 'LOC100132111', 'score': 4.29}, {'connected_gene': 'PIR45655', 'score': 0.77}]
chr1	GH01I152028	152028514	152030346	1.4	[{'connected_gene': 'LOC105371442', 'score': 550.77}, {'connected_gene': 'S100A10', 'score': 13.58}, {'connected_gene': 'ENSG00000229021', 'score': 11.09}, {'connected_gene': 'S100A11', 'score': 7.35}]
chr1	GH01I151987	151986105	151986254	0.51	[{'connected_gene': 'LOC105371441', 'score': 550.77}, {'connected_gene': 'THEM5', 'score': 10.1}, {'connected_gene': 'S100A10', 'score': 0.44}, {'connected_gene': 'KRT8P28', 'score': 0.28}]
chr1	GH01I151968	151968085	151968234	1.03	[{'connected_gene': 'ENSG00000229021', 'score': 13.34}, {'connected_gene': 'S100A10', 'score': 13.34}, {'connected_gene': 'THEM5', 'score': 10.35}, {'connected_gene': 'S100A11', 'score': 9.82}, {'connected_gene': 'CGN', 'score': 9.54}, {'connected_gene': 'ENSG00000252840', 'score': 9.54}, {'connected_gene': 'LOC105371441', 'score': 0.37}, {'connected_gene': 'KRT8P28', 'score': 0.37}]
chr1	GH01I151972	151970845	151970994	0.8	[{'connected_gene': 'ENSG00000229021', 'score': 13.37}, {'connected_gene': 'S100A10', 'score': 13.37}, {'connected_gene': 'THEM5', 'score': 10.35}, {'connected_gene': 'S100A11', 'score': 9.82}, {'connected_gene': 'CGN', 'score': 9.54}, {'connected_gene': 'ENSG00000252840', 'score': 9.54}, {'connected_gene': 'LOC105371441', 'score': 0.37}, {'connected_gene': 'KRT8P28', 'score': 0.37}]
chr1	GH01I151970	151969025	151969400	0.94	[{'connected_gene': 'ENSG00000229021', 'score': 13.34}, {'connected_gene': 'S100A10', 'score': 13.34}, {'connected_gene': 'THEM5', 'score': 10.35}, {'connected_gene': 'S100A11', 'score': 9.82}, {'connected_gene': 'CGN', 'score': 9.54}, {'connected_gene': 'ENSG00000252840', 'score': 9.54}, {'connected_gene': 'LOC105371441', 'score': 0.37}, {'connected_gene': 'KRT8P28', 'score': 0.37}]
chr1	GH01I151986	151986391	152002574	2.84	[{'connected_gene': 'ENSG00000229021', 'score': 570.66}, {'connected_gene': 'S100A10', 'score': 556.65}, {'connected_gene': 'THEM4', 'score': 30.06}, {'connected_gene': 'S100A11', 'score': 11.77}, {'connected_gene': 'THEM5', 'score': 10.35}, {'connected_gene': 'FLG-AS1', 'score': 4.3}, {'connected_gene': 'MLLT11', 'score': 3.85}, {'connected_gene': 'LOC105371441', 'score': 0.44}]
chr1	GH01I151971	151971550	151974361	1.61	[{'connected_gene': 'ENSG00000229021', 'score': 29.04}, {'connected_gene': 'THEM4', 'score': 19.04}, {'connected_gene': 'S100A10', 'score': 16.68}, {'connected_gene': 'S100A11', 'score': 11.22}, {'connected_gene': 'THEM5', 'score': 10.35}, {'connected_gene': 'ENSG00000252840', 'score': 9.54}, {'connected_gene': 'CGN', 'score': 9.54}, {'connected_gene': 'LINGO4', 'score': 4.45}, {'connected_gene': 'TUFT1', 'score': 1.47}, {'connected_gene': 'LOC105371441', 'score': 0.39}, {'connected_gene': 'KRT8P28', 'score': 0.34}]
chr1	GH01I152002	152002899	152005037	0.54	[{'connected_gene': 'ENSG00000229021', 'score': 15.95}, {'connected_gene': 'THEM4', 'score': 10.7}, {'connected_gene': 'THEM5', 'score': 10.35}, {'connected_gene': 'S100A11', 'score': 10.05}, {'connected_gene': 'ENSG00000252840', 'score': 9.58}, {'connected_gene': 'CGN', 'score': 9.58}, {'connected_gene': 'S100A10', 'score': 7.05}, {'connected_gene': 'NBPF18P', 'score': 0.39}, {'connected_gene': 'LOC105371441', 'score': 0.37}]