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
ENST00000372969	[[39491989, 39492074], [39494394, 39494612], [39500063, 39500308]]	[[39494396, 39494612], [39500063, 39500168]]
ENST00000372967	[[39491989, 39492070], [39494394, 39494612], [39500063, 39500308]]	[[39494396, 39494612], [39500063, 39500168]]
NM_001184979	[[39491966, 39492070], [39494394, 39494612], [39500063, 39500308]]	[[39494396, 39494612], [39500063, 39500168]]
NM_004552	[[39491966, 39492074], [39494394, 39494612], [39500063, 39500308]]	[[39494396, 39494612], [39500063, 39500168]]

Promoter

Chrom	Start	End	Description
chr1	39491984	39492031	CAGE_peak_1_at_NDUFS5_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr1	GH01I038953	38953005	38954028	0.74	[{'connected_gene': 'AKIRIN1', 'score': 11.27}, {'connected_gene': 'GJA9', 'score': 10.84}, {'connected_gene': 'MYCBP', 'score': 10.83}, {'connected_gene': 'NDUFS5', 'score': 5.54}, {'connected_gene': 'GC01M038951', 'score': 0.77}, {'connected_gene': 'ENSG00000207466', 'score': 0.77}, {'connected_gene': 'EIF1P2', 'score': 0.44}, {'connected_gene': 'GC01M038902', 'score': 0.18}]
chr1	GH01I038989	38989281	38993261	2.25	[{'connected_gene': 'AKIRIN1', 'score': 559.65}, {'connected_gene': 'NDUFS5', 'score': 32.52}, {'connected_gene': 'RHBDL2', 'score': 11.05}, {'connected_gene': 'GJA9', 'score': 10.42}, {'connected_gene': 'MYCBP', 'score': 10.4}, {'connected_gene': 'UTP11', 'score': 10.38}, {'connected_gene': 'PIR42637', 'score': 0.39}, {'connected_gene': 'GC01M038902', 'score': 0.28}]
chr1	GH01I038961	38961069	38962929	0.95	[{'connected_gene': 'RHBDL2', 'score': 16.94}, {'connected_gene': 'AKIRIN1', 'score': 12.22}, {'connected_gene': 'GJA9', 'score': 10.77}, {'connected_gene': 'MYCBP', 'score': 10.77}, {'connected_gene': 'NDUFS5', 'score': 5.11}, {'connected_gene': 'EIF1P2', 'score': 0.77}, {'connected_gene': 'GC01M038902', 'score': 0.2}]
chr1	GH01I038940	38940491	38942446	1.57	[{'connected_gene': 'RHBDL2', 'score': 550.77}, {'connected_gene': 'NDUFS5', 'score': 8.18}, {'connected_gene': 'RNU6-605P', 'score': 0.39}, {'connected_gene': 'GC01M038902', 'score': 0.17}]
chr1	GH01I039016	39016199	39017656	0.77	[{'connected_gene': 'NDUFS5', 'score': 65.38}, {'connected_gene': 'AKIRIN1', 'score': 19.23}, {'connected_gene': 'MACF1', 'score': 11.14}, {'connected_gene': 'KIAA0754', 'score': 11.14}, {'connected_gene': 'GJA9', 'score': 10.6}, {'connected_gene': 'MYCBP', 'score': 10.59}, {'connected_gene': 'PIR42637', 'score': 0.39}, {'connected_gene': 'GC01M038902', 'score': 0.39}]
chr1	GH01I038999	38999908	39002347	0.58	[{'connected_gene': 'NDUFS5', 'score': 26.15}, {'connected_gene': 'MYCBP', 'score': 10.62}, {'connected_gene': 'GJA9', 'score': 10.62}, {'connected_gene': 'POU3F1', 'score': 4.31}, {'connected_gene': 'PIR42637', 'score': 0.77}, {'connected_gene': 'AKIRIN1', 'score': 0.44}, {'connected_gene': 'GC01M038902', 'score': 0.31}]
chr1	GH01I039076	39076033	39077096	1.09	[{'connected_gene': 'NDUFS5', 'score': 13.71}, {'connected_gene': 'MACF1', 'score': 0.77}, {'connected_gene': 'KIAA0754', 'score': 0.77}, {'connected_gene': 'GC01P039070', 'score': 0.44}]
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	GH01I039046	39046581	39048952	1	[{'connected_gene': 'PPIE', 'score': 12.53}, {'connected_gene': 'PPIEL', 'score': 10.17}, {'connected_gene': 'TRIT1', 'score': 9.72}, {'connected_gene': 'AKIRIN1', 'score': 8.79}, {'connected_gene': 'NDUFS5', 'score': 7.68}, {'connected_gene': 'LOC105378663', 'score': 5.04}, {'connected_gene': 'GC01M038902', 'score': 0.37}, {'connected_gene': 'GC01P039068', 'score': 0.34}]
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	GH01I038958	38958160	38960854	0.72	[{'connected_gene': 'EIF1P2', 'score': 550.77}, {'connected_gene': 'AKIRIN1', 'score': 11.75}, {'connected_gene': 'GJA9', 'score': 10.68}, {'connected_gene': 'MYCBP', 'score': 10.66}, {'connected_gene': 'RHBDL2', 'score': 5.77}, {'connected_gene': 'NDUFS5', 'score': 4.62}, {'connected_gene': 'GC01M038902', 'score': 0.19}]