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
ENST00000432648	[[39456894, 39457272], [39463842, 39463983], [39466643, 39466778], [39469018, 39469090], [39469716, 39471731]]	[[39457052, 39457272], [39463842, 39463983], [39466643, 39466778], [39469018, 39469090], [39469716, 39469727]]
ENST00000446189	[[39456959, 39457272], [39463842, 39463983], [39469018, 39469090], [39469716, 39470433]]	[[39457052, 39457272], [39463842, 39463983], [39469018, 39469090], [39469716, 39469727]]
ENST00000372984	[[39456959, 39457272], [39466643, 39466778], [39469018, 39469090], [39469716, 39470526]]	[[39457052, 39457272], [39466643, 39466778], [39469018, 39469090], [39469716, 39469727]]
ENST00000531822	[[39457167, 39457272], [39463842, 39463983], [39466643, 39466778], [39469716, 39470053]]	[[39457167, 39457272], [39463842, 39463983], [39466643, 39466778], [39469716, 39469727]]
NM_001136275	[[39456915, 39457272], [39463842, 39463983], [39469018, 39469090], [39469716, 39471737]]	[[39457052, 39457272], [39463842, 39463983], [39469018, 39469090], [39469716, 39469727]]
NM_024595	[[39456915, 39457272], [39463842, 39463983], [39466643, 39466778], [39469018, 39469090], [39469716, 39471737]]	[[39457052, 39457272], [39463842, 39463983], [39466643, 39466778], [39469018, 39469090], [39469716, 39469727]]

Promoter

Chrom	Start	End	Description
chr1	39456911	39456986	CAGE_peak_1_at_AKIRIN1_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	GH01I038493	38493299	38493519	0.46	[{'connected_gene': 'AKIRIN1', 'score': 4.8}, {'connected_gene': 'LOC105378657', 'score': 0.39}, {'connected_gene': 'LINC01685', 'score': 0.37}, {'connected_gene': 'GC01M038477', 'score': 0.37}]
chr1	GH01I038973	38973269	38973398	0.66	[{'connected_gene': 'PPIEL', 'score': 9.99}, {'connected_gene': 'AKIRIN1', 'score': 5.21}, {'connected_gene': 'EIF1P2', 'score': 0.39}, {'connected_gene': 'GC01M038902', 'score': 0.22}]
chr1	GH01I038993	38993601	38993800	0.2	[{'connected_gene': 'RHBDL2', 'score': 11.03}, {'connected_gene': 'GJA9', 'score': 10.41}, {'connected_gene': 'MYCBP', 'score': 10.4}, {'connected_gene': 'AKIRIN1', 'score': 0.77}, {'connected_gene': 'PIR42637', 'score': 0.44}, {'connected_gene': 'GC01M038902', 'score': 0.28}]
chr1	GH01I038997	38997949	38998098	0.38	[{'connected_gene': 'RHBDL2', 'score': 11.02}, {'connected_gene': 'GJA9', 'score': 10.4}, {'connected_gene': 'MYCBP', 'score': 10.4}, {'connected_gene': 'PIR42637', 'score': 0.44}, {'connected_gene': 'AKIRIN1', 'score': 0.44}, {'connected_gene': 'GC01M038902', 'score': 0.29}]
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	GH01I038977	38977462	38978052	0.46	[{'connected_gene': 'RHBDL2', 'score': 11.52}, {'connected_gene': 'AKIRIN1', 'score': 0.39}, {'connected_gene': 'EIF1P2', 'score': 0.37}, {'connected_gene': 'GC01M038902', 'score': 0.23}]
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	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	GH01I038063	38063792	38064804	0.67	[{'connected_gene': 'MYCBP', 'score': 14.07}, {'connected_gene': 'SNIP1', 'score': 14.07}, {'connected_gene': 'SF3A3', 'score': 13.88}, {'connected_gene': 'FTH1P1', 'score': 12.33}, {'connected_gene': 'GNL2', 'score': 10.22}, {'connected_gene': 'AKIRIN1', 'score': 5.75}, {'connected_gene': 'ENSG00000224592', 'score': 0.37}, {'connected_gene': 'LOC105378653', 'score': 0.37}, {'connected_gene': 'ENSG00000223589', 'score': 0.37}]
chr1	GH01I038872	38872141	38874395	2	[{'connected_gene': 'MYCBP', 'score': 563.26}, {'connected_gene': 'ENSG00000273637', 'score': 550.77}, {'connected_gene': 'SF3A3', 'score': 17.18}, {'connected_gene': 'PPIE', 'score': 14.21}, {'connected_gene': 'INPP5B', 'score': 13.5}, {'connected_gene': 'PPIEL', 'score': 10.73}, {'connected_gene': 'LOC101929516', 'score': 10.64}, {'connected_gene': 'AKIRIN1', 'score': 10.61}, {'connected_gene': 'RHBDL2', 'score': 5.33}, {'connected_gene': 'PIR40308', 'score': 0.44}, {'connected_gene': 'GJA9-MYCBP', 'score': 0.44}, {'connected_gene': 'ENSG00000274944', 'score': 0.44}, {'connected_gene': 'GJA9', 'score': 0.44}, {'connected_gene': 'LOC105378663', 'score': 0.39}]
chr1	GH01I039092	39092400	39092800	0.99	[{'connected_gene': 'RNU6-608P', 'score': 11.8}, {'connected_gene': 'ENSG00000226438', 'score': 10.73}, {'connected_gene': 'AKIRIN1', 'score': 10.68}, {'connected_gene': 'PPIEL', 'score': 10.0}, {'connected_gene': 'MYCBP', 'score': 9.45}, {'connected_gene': 'GJA9', 'score': 9.45}, {'connected_gene': 'OXCT2', 'score': 7.54}, {'connected_gene': 'MACF1', 'score': 0.39}, {'connected_gene': 'KIAA0754', 'score': 0.39}, {'connected_gene': 'GC01M039121', 'score': 0.31}]
chr1	GH01I039091	39091771	39092339	0.59	[{'connected_gene': 'RNU6-608P', 'score': 11.8}, {'connected_gene': 'ENSG00000226438', 'score': 10.73}, {'connected_gene': 'AKIRIN1', 'score': 10.68}, {'connected_gene': 'MYCBP', 'score': 9.45}, {'connected_gene': 'GJA9', 'score': 9.45}, {'connected_gene': 'ENSG00000182109', 'score': 6.52}, {'connected_gene': 'MACF1', 'score': 0.39}, {'connected_gene': 'KIAA0754', 'score': 0.39}, {'connected_gene': 'GC01M039121', 'score': 0.31}]
chr1	GH01I039097	39097968	39099338	1.19	[{'connected_gene': 'RNU6-608P', 'score': 12.11}, {'connected_gene': 'ENSG00000226438', 'score': 11.94}, {'connected_gene': 'AKIRIN1', 'score': 10.68}, {'connected_gene': 'OXCT2P1', 'score': 10.23}, {'connected_gene': 'GJA9', 'score': 9.45}, {'connected_gene': 'MYCBP', 'score': 9.45}, {'connected_gene': 'MACF1', 'score': 0.37}, {'connected_gene': 'KIAA0754', 'score': 0.37}, {'connected_gene': 'GC01M039121', 'score': 0.34}]
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}]
chr1	GH01I038969	38969209	38969358	0.97	[{'connected_gene': 'EIF1P2', 'score': 0.39}, {'connected_gene': 'AKIRIN1', 'score': 0.34}, {'connected_gene': 'GC01M038902', 'score': 0.21}]
chr1	GH01I038951	38951129	38951278	0.52	[{'connected_gene': 'GC01M038951', 'score': 550.77}, {'connected_gene': 'ENSG00000207466', 'score': 550.77}, {'connected_gene': 'AKIRIN1', 'score': 11.25}, {'connected_gene': 'GJA9', 'score': 10.85}, {'connected_gene': 'MYCBP', 'score': 10.83}, {'connected_gene': 'EIF1P2', 'score': 0.44}, {'connected_gene': 'GC01M038902', 'score': 0.18}]