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
ENST00000373001	[[39303869, 39305376], [39311610, 39311759], [39317286, 39317429], [39318045, 39318160], [39321379, 39321579], [39322550, 39322754], [39325081, 39325495]]	[[39305224, 39305376], [39311610, 39311759], [39317286, 39317429], [39318045, 39318160], [39321379, 39321579], [39322550, 39322754], [39325081, 39325318]]
ENST00000493015	[[39311610, 39311759], [39317286, 39317429], [39318045, 39318160], [39321379, 39321579], [39322376, 39322514]]	None
ENST00000474456	[[39305020, 39305376], [39311610, 39313746]]	None
ENST00000496778	[[39317183, 39317429], [39318045, 39318367]]	None
NM_022157	[[39303868, 39305376], [39311610, 39311759], [39317286, 39317429], [39318045, 39318160], [39321379, 39321579], [39322550, 39322754], [39325081, 39325495]]	[[39305224, 39305376], [39311610, 39311759], [39317286, 39317429], [39318045, 39318160], [39321379, 39321579], [39322550, 39322754], [39325081, 39325318]]
NM_001271851	[[39303868, 39305376], [39311610, 39311759], [39317286, 39317429], [39318045, 39318160], [39321379, 39321579], [39322550, 39322652], [39325081, 39325495]]	[[39305224, 39305376], [39311610, 39311759], [39317286, 39317429], [39318045, 39318160], [39321379, 39321579], [39322550, 39322652], [39325081, 39325318]]

Promoter

Chrom	Start	End	Description
chr1	39325359	39325425	CAGE_peak_1_at_RRAGC_5end
chr1	39325431	39325447	CAGE_peak_2_at_RRAGC_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr1	GH01I039573	39573348	39577478	2.21	[{'connected_gene': 'PABPC4', 'score': 564.53}, {'connected_gene': 'OXCT2P1', 'score': 15.72}, {'connected_gene': 'PPIE', 'score': 11.65}, {'connected_gene': 'OXCT2', 'score': 10.43}, {'connected_gene': 'RRAGC', 'score': 9.95}, {'connected_gene': 'SNORA55', 'score': 0.44}, {'connected_gene': 'GC01M039568', 'score': 0.44}, {'connected_gene': 'GC01M039576', 'score': 0.44}, {'connected_gene': 'GC01M039569', 'score': 0.44}]
chr1	GH01I038857	38857509	38861201	2.07	[{'connected_gene': 'RRAGC', 'score': 550.77}, {'connected_gene': 'PIR59723', 'score': 550.77}, {'connected_gene': 'LOC105378663', 'score': 550.77}, {'connected_gene': 'PPIE', 'score': 25.25}, {'connected_gene': 'SF3A3', 'score': 24.76}, {'connected_gene': 'INPP5B', 'score': 14.59}, {'connected_gene': 'PPIEL', 'score': 13.67}, {'connected_gene': 'GC01P038850', 'score': 0.44}, {'connected_gene': 'ENSG00000273637', 'score': 0.37}]
chr1	GH01I039851	39851769	39853021	1.2	[{'connected_gene': 'TRIT1', 'score': 31.03}, {'connected_gene': 'PPIE', 'score': 24.3}, {'connected_gene': 'MYCBP', 'score': 21.3}, {'connected_gene': 'NFYC', 'score': 19.39}, {'connected_gene': 'RLF', 'score': 12.56}, {'connected_gene': 'EXO5', 'score': 11.86}, {'connected_gene': 'RRAGC', 'score': 11.6}, {'connected_gene': 'LOC101929516', 'score': 11.12}, {'connected_gene': 'SNORA55', 'score': 10.3}, {'connected_gene': 'PPIEL', 'score': 9.81}, {'connected_gene': 'RPS2P12', 'score': 5.57}, {'connected_gene': 'GC01P039840', 'score': 0.39}, {'connected_gene': 'ENSG00000202222', 'score': 0.31}, {'connected_gene': 'GC01M039882', 'score': 0.31}]
chr1	GH01I039025	39025372	39027759	2.06	[{'connected_gene': 'NDUFS5', 'score': 620.04}, {'connected_gene': 'PPIE', 'score': 46.63}, {'connected_gene': 'MYCBP', 'score': 24.13}, {'connected_gene': 'AKIRIN1', 'score': 11.5}, {'connected_gene': 'PPIEL', 'score': 10.17}, {'connected_gene': 'GJA9', 'score': 10.09}, {'connected_gene': 'RRAGC', 'score': 10.03}, {'connected_gene': 'TRIT1', 'score': 9.72}, {'connected_gene': 'LOC105378663', 'score': 4.55}, {'connected_gene': 'GC01M038902', 'score': 0.77}]
chr1	GH01I038847	38847801	38848200	0.2	[{'connected_gene': 'MYCBP', 'score': 10.63}, {'connected_gene': 'GJA9', 'score': 10.61}, {'connected_gene': 'AKIRIN1', 'score': 10.02}, {'connected_gene': 'GC01P038850', 'score': 0.77}, {'connected_gene': 'PIR38410', 'score': 0.44}, {'connected_gene': 'GC01M038840', 'score': 0.44}, {'connected_gene': 'RRAGC', 'score': 0.39}, {'connected_gene': 'ENSG00000273637', 'score': 0.31}]
chr1	GH01I037988	37988587	37990987	2.16	[{'connected_gene': 'SF3A3', 'score': 676.08}, {'connected_gene': 'RNU6-510P', 'score': 550.77}, {'connected_gene': 'GC01P037993', 'score': 550.77}, {'connected_gene': 'C1orf109', 'score': 87.66}, {'connected_gene': 'FTH1P1', 'score': 48.77}, {'connected_gene': 'INPP5B', 'score': 46.42}, {'connected_gene': 'GNL2', 'score': 46.21}, {'connected_gene': 'MYCBP', 'score': 44.52}, {'connected_gene': 'FHL3', 'score': 33.56}, {'connected_gene': 'RSPO1', 'score': 28.78}, {'connected_gene': 'RRAGC', 'score': 20.04}, {'connected_gene': 'YRDC', 'score': 19.0}, {'connected_gene': 'DNALI1', 'score': 12.27}, {'connected_gene': 'MEAF6', 'score': 12.08}, {'connected_gene': 'ENSG00000277168', 'score': 0.28}]
chr1	GH01I038861	38861424	38861903	0.49	[{'connected_gene': 'LOC105378663', 'score': 555.81}, {'connected_gene': 'GC01P038865', 'score': 550.77}, {'connected_gene': 'RRAGC', 'score': 550.77}, {'connected_gene': 'PIR59723', 'score': 550.77}, {'connected_gene': 'PIR42241', 'score': 550.77}, {'connected_gene': 'ENSG00000273637', 'score': 0.39}]
chr1	GH01I038984	38984989	38987447	1.37	[{'connected_gene': 'PPIE', 'score': 65.57}, {'connected_gene': 'PPIEL', 'score': 62.21}, {'connected_gene': 'TRIT1', 'score': 58.97}, {'connected_gene': 'SF3A3', 'score': 48.03}, {'connected_gene': 'NDUFS5', 'score': 22.62}, {'connected_gene': 'MYCBP', 'score': 12.62}, {'connected_gene': 'RRAGC', 'score': 11.92}, {'connected_gene': 'ENSG00000182109', 'score': 11.24}, {'connected_gene': 'LOC101929516', 'score': 10.65}, {'connected_gene': 'AKIRIN1', 'score': 0.44}, {'connected_gene': 'EIF1P2', 'score': 0.31}, {'connected_gene': 'GC01M038902', 'score': 0.26}]
chr1	GH01I039700	39700424	39702339	1.07	[{'connected_gene': 'PPIE', 'score': 14.8}, {'connected_gene': 'MYCBP', 'score': 12.64}, {'connected_gene': 'RLF', 'score': 12.54}, {'connected_gene': 'RRAGC', 'score': 11.6}, {'connected_gene': 'NFYC', 'score': 11.02}, {'connected_gene': 'ENSG00000182109', 'score': 4.69}, {'connected_gene': 'BMP8B', 'score': 4.5}, {'connected_gene': 'LOC100128091', 'score': 0.37}]