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
ENST00000493818	[[20990506, 20990697], [20990880, 20991083]]	None
ENST00000477167	[[20990506, 20991255], [20992706, 20992824], [20996913, 20996981], [20998430, 20998689], [21009145, 21009377], [21011301, 21011680]]	None
ENST00000490034	[[20990506, 20991255], [20992706, 20992824], [20996913, 20996984], [20998430, 20998689], [21009145, 21009377], [21011301, 21011513], [21012538, 21012619], [21016680, 21016828], [21024871, 21024932]]	None
ENST00000375044	[[20990506, 20991255], [20992706, 20992824], [20996913, 20996984], [20998430, 20998689], [21009145, 21009377], [21011301, 21011513], [21012538, 21012619], [21013880, 21014437], [21016680, 21016828], [21024871, 21024981], [21030939, 21031392], [21036131, 21036321], [21039946, 21040048], [21041985, 21042132], [21043841, 21043984]]	[[20991076, 20991255], [20992706, 20992824], [20996913, 20996984], [20998430, 20998689], [21009145, 21009377], [21011301, 21011513], [21012538, 21012619], [21013880, 21014437], [21016680, 21016828], [21024871, 21024981], [21030939, 21031392], [21036131, 21036321], [21039946, 21040048], [21041985, 21042063]]
ENST00000400463	[[20990506, 20991255], [20992706, 20992824], [20996913, 20996981], [20998430, 20998689], [21009145, 21009377], [21011301, 21011513], [21012538, 21012619], [21013880, 21014437], [21016680, 21016828], [21024871, 21024981], [21030939, 21031392], [21036131, 21036321], [21039946, 21040048], [21041985, 21042132], [21043968, 21044273]]	[[20991076, 20991255], [20992706, 20992824], [20996913, 20996981], [20998430, 20998689], [21009145, 21009377], [21011301, 21011513], [21012538, 21012619], [21013880, 21014437], [21016680, 21016828], [21024871, 21024981], [21030939, 21031392], [21036131, 21036321], [21039946, 21040048], [21041985, 21042132], [21043968, 21044199]]
ENST00000247986	[[20990508, 20991255], [20992706, 20992824], [20996913, 20996984], [20998430, 20998689], [21009145, 21009377], [21011301, 21011513], [21012538, 21012619], [21013880, 21014437], [21016680, 21016828], [21024871, 21024981], [21030939, 21031392], [21036131, 21036321], [21039946, 21040048], [21041985, 21042132], [21043968, 21044510]]	[[20991076, 20991255], [20992706, 20992824], [20996913, 20996984], [20998430, 20998689], [21009145, 21009377], [21011301, 21011513], [21012538, 21012619], [21013880, 21014437], [21016680, 21016828], [21024871, 21024981], [21030939, 21031392], [21036131, 21036321], [21039946, 21040048], [21041985, 21042132], [21043968, 21044199]]
ENST00000462858	[[20992706, 20992824], [20996913, 20996984], [20998430, 20998689], [21009145, 21009377], [21011301, 21011513], [21011744, 21011776]]	None
ENST00000498225	[[20996921, 20996981], [20998430, 20998689], [21009145, 21009377], [21011301, 21011513], [21012538, 21012619], [21012836, 21012868]]	None
ENST00000463389	[[20998508, 20998689], [20999372, 20999513]]	None
NM_001287212	[[20990506, 20991255], [20992706, 20992824], [20996913, 20996984], [20998430, 20998689], [21009145, 21009377], [21011301, 21011513], [21012538, 21012619], [21013880, 21014437], [21016680, 21016828], [21024871, 21024981], [21030939, 21031392], [21036131, 21036321], [21039946, 21040048], [21041985, 21042132], [21043841, 21044510]]	[[20991076, 20991255], [20992706, 20992824], [20996913, 20996984], [20998430, 20998689], [21009145, 21009377], [21011301, 21011513], [21012538, 21012619], [21013880, 21014437], [21016680, 21016828], [21024871, 21024981], [21030939, 21031392], [21036131, 21036321], [21039946, 21040048], [21041985, 21042063]]
NM_020816	[[20990506, 20991255], [20992706, 20992824], [20996913, 20996984], [20998430, 20998689], [21009145, 21009377], [21011301, 21011513], [21012538, 21012619], [21013880, 21014437], [21016680, 21016828], [21024871, 21024981], [21030939, 21031392], [21036131, 21036321], [21039946, 21040048], [21041985, 21042132], [21043968, 21044510]]	[[20991076, 20991255], [20992706, 20992824], [20996913, 20996984], [20998430, 20998689], [21009145, 21009377], [21011301, 21011513], [21012538, 21012619], [21013880, 21014437], [21016680, 21016828], [21024871, 21024981], [21030939, 21031392], [21036131, 21036321], [21039946, 21040048], [21041985, 21042132], [21043968, 21044199]]
NM_001122819	[[20990506, 20991255], [20992706, 20992824], [20996913, 20996981], [20998430, 20998689], [21009145, 21009377], [21011301, 21011513], [21012538, 21012619], [21013880, 21014437], [21016680, 21016828], [21024871, 21024981], [21030939, 21031392], [21036131, 21036321], [21039946, 21040048], [21041985, 21042132], [21043968, 21044510]]	[[20991076, 20991255], [20992706, 20992824], [20996913, 20996981], [20998430, 20998689], [21009145, 21009377], [21011301, 21011513], [21012538, 21012619], [21013880, 21014437], [21016680, 21016828], [21024871, 21024981], [21030939, 21031392], [21036131, 21036321], [21039946, 21040048], [21041985, 21042132], [21043968, 21044199]]

Promoter

Chrom	Start	End	Description
chr1	21009194	21009204	CAGE_peak_13_at_KIF17_5end
chr1	21009246	21009313	CAGE_peak_1_at_KIF17_5end
chr1	21009373	21009387	CAGE_peak_11_at_KIF17_5end
chr1	21011608	21011618	CAGE_peak_15_at_KIF17_5end
chr1	21011636	21011668	CAGE_peak_3_at_KIF17_5end
chr1	21011693	21011708	CAGE_peak_5_at_KIF17_5end
chr1	21011770	21011803	CAGE_peak_2_at_KIF17_5end
chr1	21012873	21012898	CAGE_peak_10_at_KIF17_5end
chr1	21025019	21025038	CAGE_peak_8_at_KIF17_5end
chr1	21044489	21044511	CAGE_peak_7_at_KIF17_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr1	GH01I020695	20695801	20699866	1.22	[{'connected_gene': 'EIF4G3', 'score': 12.78}, {'connected_gene': 'KIF17', 'score': 5.68}, {'connected_gene': 'HP1BP3', 'score': 5.57}, {'connected_gene': 'ENSG00000235432', 'score': 0.77}, {'connected_gene': 'GC01P020706', 'score': 0.44}]
chr1	GH01I020678	20678601	20679200	0.69	[{'connected_gene': 'PINK1', 'score': 11.41}, {'connected_gene': 'SH2D5', 'score': 11.12}, {'connected_gene': 'ENSG00000233069', 'score': 11.12}, {'connected_gene': 'CDA', 'score': 9.63}, {'connected_gene': 'MUL1', 'score': 6.22}, {'connected_gene': 'DDOST', 'score': 0.37}, {'connected_gene': 'ENSG00000235432', 'score': 0.37}, {'connected_gene': 'KIF17', 'score': 0.28}]
chr1	GH01I020682	20682601	20683200	0.43	[{'connected_gene': 'PINK1', 'score': 11.41}, {'connected_gene': 'SH2D5', 'score': 11.14}, {'connected_gene': 'ENSG00000233069', 'score': 11.14}, {'connected_gene': 'ENSG00000235432', 'score': 0.39}, {'connected_gene': 'DDOST', 'score': 0.34}, {'connected_gene': 'KIF17', 'score': 0.28}]
chr1	GH01I020683	20683852	20686404	0.66	[{'connected_gene': 'PINK1', 'score': 11.39}, {'connected_gene': 'SH2D5', 'score': 11.14}, {'connected_gene': 'ENSG00000233069', 'score': 11.14}, {'connected_gene': 'UBXN10-AS1', 'score': 6.14}, {'connected_gene': 'EIF4G3', 'score': 4.29}, {'connected_gene': 'ENSG00000235432', 'score': 0.44}, {'connected_gene': 'DDOST', 'score': 0.34}, {'connected_gene': 'KIF17', 'score': 0.29}]
chr1	GH01I020717	20717395	20718526	1.83	[{'connected_gene': 'KIF17', 'score': 563.73}, {'connected_gene': 'EIF4G3', 'score': 11.76}, {'connected_gene': 'GC01P020706', 'score': 0.39}]
chr1	GH01I020366	20366634	20366709	0.52	[{'connected_gene': 'KIF17', 'score': 8.46}, {'connected_gene': 'PINK1', 'score': 1.64}, {'connected_gene': 'GC01P020350', 'score': 0.37}, {'connected_gene': 'PIR44198', 'score': 0.28}, {'connected_gene': 'LINC01141', 'score': 0.21}]
chr1	GH01I020722	20722508	20722677	0.2	[{'connected_gene': 'KIF17', 'score': 0.77}, {'connected_gene': 'SH2D5', 'score': 0.39}]
chr1	GH01I021187	21187840	21187971	0.33	[{'connected_gene': 'KIF17', 'score': 10.88}, {'connected_gene': 'MIR1256', 'score': 10.68}, {'connected_gene': 'EIF4G3', 'score': 3.33}, {'connected_gene': 'GC01M021203', 'score': 0.37}]
chr1	GH01I020727	20727470	20728697	0.72	[{'connected_gene': 'HP1BP3', 'score': 12.05}, {'connected_gene': 'SH2D5', 'score': 0.77}, {'connected_gene': 'KIF17', 'score': 0.39}]
chr1	GH01I020724	20724506	20726857	0.71	[{'connected_gene': 'SH2D5', 'score': 0.44}, {'connected_gene': 'KIF17', 'score': 0.44}]
chr1	GH01I020730	20730194	20734414	2.04	[{'connected_gene': 'SH2D5', 'score': 555.05}, {'connected_gene': 'ENSG00000233069', 'score': 550.77}, {'connected_gene': 'HP1BP3', 'score': 32.05}, {'connected_gene': 'EIF4G3', 'score': 7.94}, {'connected_gene': 'KIF17', 'score': 0.39}]
chr1	GH01I020665	20665801	20666000	0.31	[{'connected_gene': 'DDOST', 'score': 0.77}, {'connected_gene': 'GC01P020654', 'score': 0.39}, {'connected_gene': 'ENSG00000235432', 'score': 0.31}, {'connected_gene': 'KIF17', 'score': 0.23}]
chr1	GH01I020666	20666904	20667065	0.68	[{'connected_gene': 'DDOST', 'score': 0.44}, {'connected_gene': 'ENSG00000235432', 'score': 0.31}, {'connected_gene': 'KIF17', 'score': 0.23}]
chr1	GH01I020660	20660301	20662772	2.05	[{'connected_gene': 'DDOST', 'score': 556.56}, {'connected_gene': 'HP1BP3', 'score': 12.09}, {'connected_gene': 'GC01P020654', 'score': 0.44}, {'connected_gene': 'KIF17', 'score': 0.22}]