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
ENST00000392795	[[62006099, 62006684], [62006793, 62006835], [62007129, 62007248], [62007433, 62007745], [62008694, 62008748], [62009554, 62009696]]	[[62006585, 62006684], [62006793, 62006835], [62007129, 62007248], [62007433, 62007745], [62008694, 62008748], [62009554, 62009621]]
ENST00000006750	[[62006099, 62006684], [62006793, 62006835], [62007129, 62007248], [62007433, 62007745], [62008694, 62008745], [62009554, 62009714]]	[[62006585, 62006684], [62006793, 62006835], [62007129, 62007248], [62007433, 62007745], [62008694, 62008745], [62009554, 62009621]]
ENST00000559358	[[62006127, 62006684], [62006793, 62006835], [62007129, 62007248], [62007433, 62007874]]	None
ENST00000349817	[[62006585, 62006684], [62006793, 62006835], [62007129, 62007248], [62008694, 62008745], [62009554, 62009621]]	[[62006585, 62006684], [62006793, 62006835], [62007129, 62007248], [62008694, 62008745], [62009554, 62009621]]
ENST00000558969	[[62008319, 62008745], [62009554, 62009691]]	None
ENST00000583260	[[62009250, 62009683]]	None
NM_001039933	[[62006095, 62006684], [62006793, 62006835], [62007129, 62007248], [62007433, 62007745], [62008694, 62008748], [62009554, 62009714]]	[[62006585, 62006684], [62006793, 62006835], [62007129, 62007248], [62007433, 62007745], [62008694, 62008748], [62009554, 62009621]]
NM_001329050	[[62006095, 62006684], [62006793, 62006835], [62007129, 62007248], [62008694, 62008748], [62009554, 62009714]]	[[62006585, 62006684], [62006793, 62006835], [62007129, 62007248], [62008694, 62008748], [62009554, 62009621]]
NM_000626	[[62006095, 62006684], [62006793, 62006835], [62007129, 62007248], [62007433, 62007745], [62008694, 62008745], [62009554, 62009714]]	[[62006585, 62006684], [62006793, 62006835], [62007129, 62007248], [62007433, 62007745], [62008694, 62008745], [62009554, 62009621]]
NM_021602	[[62006095, 62006684], [62006793, 62006835], [62007129, 62007248], [62008694, 62008745], [62009554, 62009714]]	[[62006585, 62006684], [62006793, 62006835], [62007129, 62007248], [62008694, 62008745], [62009554, 62009621]]

Promoter

Chrom	Start	End	Description
chr17	62007906	62007924	CAGE_peak_4_at_CD79B_5end
chr17	62009667	62009701	CAGE_peak_1_at_CD79B_5end
chr17	62009702	62009717	CAGE_peak_2_at_CD79B_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr17	GH17I063986	63986961	63987110	0.69	[{'connected_gene': 'CD79B', 'score': 13.18}, {'connected_gene': 'GH1', 'score': 12.17}, {'connected_gene': 'CSHL1', 'score': 12.17}, {'connected_gene': 'SCN4A', 'score': 0.77}, {'connected_gene': 'ENSG00000263489', 'score': 0.77}, {'connected_gene': 'PIR61137', 'score': 0.37}]
chr17	GH17I063933	63933646	63933842	0.53	[{'connected_gene': 'CD79B', 'score': 550.77}, {'connected_gene': 'GH1', 'score': 5.15}, {'connected_gene': 'GC17M063943', 'score': 0.44}]
chr17	GH17I063930	63930001	63933200	1.69	[{'connected_gene': 'CD79B', 'score': 569.87}, {'connected_gene': 'FTSJ3', 'score': 46.95}, {'connected_gene': 'DDX42', 'score': 17.51}, {'connected_gene': 'CSH2', 'score': 17.45}, {'connected_gene': 'CEP95', 'score': 17.31}, {'connected_gene': 'POLG2', 'score': 11.26}, {'connected_gene': 'GH1', 'score': 0.39}]
chr17	GH17I063990	63990041	63991050	1.22	[{'connected_gene': 'SCN4A', 'score': 550.77}, {'connected_gene': 'ENSG00000263489', 'score': 550.77}, {'connected_gene': 'CD79B', 'score': 13.17}, {'connected_gene': 'GH1', 'score': 12.16}, {'connected_gene': 'CSHL1', 'score': 12.16}, {'connected_gene': 'PRR29', 'score': 4.81}]
chr17	GH17I063991	63990021	63990021	0.79	[{'connected_gene': 'SCN4A', 'score': 550.77}, {'connected_gene': 'ENSG00000263489', 'score': 550.77}, {'connected_gene': 'CD79B', 'score': 13.17}, {'connected_gene': 'GH1', 'score': 12.16}, {'connected_gene': 'CSHL1', 'score': 12.16}]
chr17	GH17I063987	63987837	63989800	0.93	[{'connected_gene': 'SCN4A', 'score': 558.8}, {'connected_gene': 'ENSG00000263489', 'score': 550.77}, {'connected_gene': 'CD79B', 'score': 13.17}, {'connected_gene': 'GH1', 'score': 12.17}, {'connected_gene': 'CSHL1', 'score': 12.17}, {'connected_gene': 'PIR61137', 'score': 0.37}]
chr17	GH17I063922	63922167	63922831	0.94	[{'connected_gene': 'GH1', 'score': 0.77}, {'connected_gene': 'CD79B', 'score': 0.44}]
chr17	GH17I063925	63925646	63926255	0.69	[{'connected_gene': 'GH1', 'score': 0.44}, {'connected_gene': 'CD79B', 'score': 0.44}]
chr17	GH17I063919	63919321	63919490	0.8	[{'connected_gene': 'GH1', 'score': 550.77}, {'connected_gene': 'CSHL1', 'score': 550.77}, {'connected_gene': 'CD79B', 'score': 0.39}]
chr17	GH17I063918	63918828	63918887	0.61	[{'connected_gene': 'GH1', 'score': 550.77}, {'connected_gene': 'CSHL1', 'score': 550.77}, {'connected_gene': 'FTSJ3', 'score': 14.38}, {'connected_gene': 'CD79B', 'score': 0.39}]
chr17	GH17I063920	63920376	63921065	0.6	[{'connected_gene': 'GH1', 'score': 550.77}, {'connected_gene': 'CSHL1', 'score': 550.77}, {'connected_gene': 'FTSJ3', 'score': 36.49}, {'connected_gene': 'CD79B', 'score': 0.39}]
chr17	GH17I064059	64059531	64068990	1.55	[{'connected_gene': 'ERN1', 'score': 42.47}, {'connected_gene': 'ENSG00000265982', 'score': 14.13}, {'connected_gene': 'CSHL1', 'score': 12.43}, {'connected_gene': 'GH1', 'score': 12.43}, {'connected_gene': 'DDX5', 'score': 11.77}, {'connected_gene': 'SCN4A', 'score': 11.73}, {'connected_gene': 'PLEKHM1P1', 'score': 11.66}, {'connected_gene': 'SNORD104', 'score': 11.59}, {'connected_gene': 'CD79B', 'score': 11.25}, {'connected_gene': 'MAP3K3', 'score': 4.46}, {'connected_gene': 'LIMD2', 'score': 2.82}, {'connected_gene': 'ICAM2', 'score': 2.69}, {'connected_gene': 'PECAM1', 'score': 1.25}, {'connected_gene': 'GC17M064041', 'score': 0.34}]
chr17	GH17I063927	63927385	63928502	1.04	[{'connected_gene': 'FTSJ3', 'score': 35.33}, {'connected_gene': 'CD79B', 'score': 20.18}, {'connected_gene': 'SCN4A', 'score': 12.9}, {'connected_gene': 'GH1', 'score': 0.44}]
chr17	GH17I063982	63982935	63986237	1.29	[{'connected_gene': 'FTSJ3', 'score': 19.89}, {'connected_gene': 'POLG2', 'score': 14.19}, {'connected_gene': 'DDX5', 'score': 13.52}, {'connected_gene': 'CD79B', 'score': 13.18}, {'connected_gene': 'CSHL1', 'score': 12.51}, {'connected_gene': 'GH1', 'score': 12.51}, {'connected_gene': 'DDX42', 'score': 12.09}, {'connected_gene': 'ICAM2', 'score': 12.02}, {'connected_gene': 'SMARCD2', 'score': 11.87}, {'connected_gene': 'CEP95', 'score': 11.32}, {'connected_gene': 'EEF1DP7', 'score': 11.12}, {'connected_gene': 'PLEKHM1P1', 'score': 10.9}, {'connected_gene': 'MAP3K3', 'score': 10.73}, {'connected_gene': 'ENSG00000265982', 'score': 10.37}, {'connected_gene': 'PRR29', 'score': 9.59}, {'connected_gene': 'ARHGAP27P1-BPTFP1-KPNA2P3', 'score': 4.76}, {'connected_gene': 'PSMC5', 'score': 4.15}, {'connected_gene': 'ENSG00000263489', 'score': 0.77}, {'connected_gene': 'SCN4A', 'score': 0.44}, {'connected_gene': 'PIR61137', 'score': 0.39}]
chr17	GH17I064041	64041899	64043744	0.72	[{'connected_gene': 'GC17M064041', 'score': 550.77}, {'connected_gene': 'ERN1', 'score': 24.85}, {'connected_gene': 'GH1', 'score': 12.01}, {'connected_gene': 'CSHL1', 'score': 12.01}, {'connected_gene': 'ICAM2', 'score': 11.52}, {'connected_gene': 'SNORD104', 'score': 11.14}, {'connected_gene': 'CD79B', 'score': 10.99}]