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
ENST00000355849	[[136469699, 136470197], [136533479, 136533598], [136554896, 136555013], [136560996, 136561143], [136569690, 136569830], [136594120, 136594316], [136619197, 136619280], [136657301, 136657360], [136659235, 136659853]]	[[136470109, 136470197], [136533479, 136533598], [136554896, 136555013], [136560996, 136561143], [136569690, 136569830], [136594120, 136594316], [136619197, 136619280], [136657301, 136657360], [136659235, 136659327]]
ENST00000524199	[[136470329, 136470426], [136533479, 136533598], [136554896, 136555013], [136560996, 136561143], [136569690, 136569830], [136594120, 136594316], [136619197, 136619270]]	[[136470422, 136470426], [136533479, 136533598], [136554896, 136555013], [136560996, 136561143], [136569690, 136569830], [136594120, 136594316], [136619197, 136619270]]
ENST00000520981	[[136470789, 136471153], [136533479, 136533598], [136619197, 136619280], [136657301, 136657360], [136659235, 136659853]]	[[136471146, 136471153], [136533479, 136533598], [136619197, 136619280], [136657301, 136657360], [136659235, 136659327]]
ENST00000517859	[[136554916, 136555013], [136560996, 136561143], [136569690, 136569830], [136594120, 136594316], [136657301, 136657360], [136659235, 136659662]]	[[136554916, 136555013], [136560996, 136561143], [136569690, 136569830], [136594120, 136594316], [136657301, 136657310]]
ENST00000524282	[[136554945, 136555013], [136560996, 136561143], [136569690, 136569830], [136594120, 136594316], [136659235, 136659269]]	[[136554945, 136555013], [136560996, 136561143], [136569690, 136569830], [136594120, 136594316], [136659235, 136659269]]
ENST00000522079	[[136569698, 136569830], [136594120, 136594316], [136619197, 136619280], [136660782, 136660841], [136668468, 136668710]]	None
ENST00000517394	[[136470949, 136471153], [136533479, 136533598], [136554896, 136555013], [136560996, 136561143], [136569690, 136569782]]	[[136471146, 136471153], [136533479, 136533598], [136554896, 136555013], [136560996, 136561143], [136569690, 136569782]]
ENST00000519600	[[136550776, 136555013], [136560996, 136562225]]	None
ENST00000522433	[[136605573, 136605635], [136619197, 136619280], [136657301, 136657360], [136659235, 136659427]]	None
ENST00000518728	[[136619198, 136619280], [136659386, 136659501]]	None
ENST00000521461	[[136619252, 136619280], [136657301, 136657360], [136659235, 136659385], [136660782, 136660841], [136668468, 136668965]]	[[136619252, 136619280], [136657301, 136657360], [136659235, 136659327]]
ENST00000522578	[[136659977, 136660364], [136660782, 136660841], [136668468, 136668756]]	None
NM_006558	[[136469707, 136470197], [136533479, 136533598], [136554896, 136555013], [136560996, 136561143], [136569690, 136569830], [136594120, 136594316], [136619197, 136619280], [136657301, 136657360], [136659235, 136659853]]	[[136470109, 136470197], [136533479, 136533598], [136554896, 136555013], [136560996, 136561143], [136569690, 136569830], [136594120, 136594316], [136619197, 136619280], [136657301, 136657360], [136659235, 136659327]]

Promoter

Chrom	Start	End	Description
chr8	136469661	136469668	CAGE_peak_3_at_KHDRBS3_5end
chr8	136469684	136469710	CAGE_peak_1_at_KHDRBS3_5end
chr8	136469717	136469739	CAGE_peak_2_at_KHDRBS3_5end
chr8	136469749	136469760	CAGE_peak_8_at_KHDRBS3_5end
chr8	136469761	136469771	CAGE_peak_11_at_KHDRBS3_5end
chr8	136469854	136469863	CAGE_peak_25_at_KHDRBS3_5end
chr8	136469874	136469892	CAGE_peak_10_at_KHDRBS3_5end
chr8	136469950	136469961	CAGE_peak_6_at_KHDRBS3_5end
chr8	136470240	136470245	CAGE_peak_26_at_KHDRBS3_5end
chr8	136470259	136470269	CAGE_peak_23_at_KHDRBS3_5end
chr8	136470270	136470292	CAGE_peak_5_at_KHDRBS3_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr8	GH08I135628	135628089	135629460	0.38	[{'connected_gene': 'MAPRE1P1', 'score': 0.77}, {'connected_gene': 'GC08P135639', 'score': 0.39}, {'connected_gene': 'GC08P135499', 'score': 0.13}, {'connected_gene': 'KHDRBS3', 'score': 0.09}]
chr8	GH08I135330	135330438	135330716	0.26	[{'connected_gene': 'KHDRBS3', 'score': 2.39}, {'connected_gene': 'LINC01591', 'score': 0.15}, {'connected_gene': 'PIR45588', 'score': 0.13}]
chr8	GH08I136048	136048093	136050267	0.83	[{'connected_gene': 'KHDRBS3', 'score': 7.01}, {'connected_gene': 'ENSG00000253248', 'score': 0.77}, {'connected_gene': 'LOC105375775', 'score': 0.09}]
chr8	GH08I134858	134858015	134859883	0.31	[{'connected_gene': 'KHDRBS3', 'score': 8.44}, {'connected_gene': 'LOC101927845', 'score': 0.44}, {'connected_gene': 'PIR33431', 'score': 0.44}]
chr8	GH08I136041	136041183	136042942	1.01	[{'connected_gene': 'KHDRBS3', 'score': 6.85}, {'connected_gene': 'ENSG00000253248', 'score': 0.77}, {'connected_gene': 'PIR45810', 'score': 0.22}]
chr8	GH08I136017	136017018	136017167	0.31	[{'connected_gene': 'KHDRBS3', 'score': 7.44}, {'connected_gene': 'ENSG00000253248', 'score': 0.31}, {'connected_gene': 'PIR45810', 'score': 0.29}]
chr8	GH08I136028	136028244	136031961	0.9	[{'connected_gene': 'KHDRBS3', 'score': 7.09}, {'connected_gene': 'ENSG00000253248', 'score': 0.37}, {'connected_gene': 'PIR45810', 'score': 0.25}]
chr8	GH08I135465	135465801	135468735	0.82	[{'connected_gene': 'LOC101927872', 'score': 9.68}, {'connected_gene': 'KHDRBS3', 'score': 0.44}, {'connected_gene': 'GC08P135499', 'score': 0.29}]
chr8	GH08I135582	135582959	135585035	0.84	[{'connected_gene': 'LOC101927872', 'score': 7.61}, {'connected_gene': 'GC08M135625', 'score': 0.26}, {'connected_gene': 'GC08P135499', 'score': 0.18}, {'connected_gene': 'KHDRBS3', 'score': 0.13}]
chr8	GH08I135459	135459000	135459400	0.76	[{'connected_gene': 'LOC101927872', 'score': 550.77}, {'connected_gene': 'KHDRBS3', 'score': 550.77}, {'connected_gene': 'GC08P135499', 'score': 0.26}]
chr8	GH08I135542	135542719	135544733	0.43	[{'connected_gene': 'LOC101927872', 'score': 8.19}, {'connected_gene': 'GC08P135499', 'score': 0.26}, {'connected_gene': 'GC08M135625', 'score': 0.18}, {'connected_gene': 'KHDRBS3', 'score': 0.17}]
chr8	GH08I135644	135644970	135646006	0.56	[{'connected_gene': 'LOC101927872', 'score': 7.35}, {'connected_gene': 'GC08P135639', 'score': 0.44}, {'connected_gene': 'PIR59482', 'score': 0.26}, {'connected_gene': 'GC08P135499', 'score': 0.11}, {'connected_gene': 'KHDRBS3', 'score': 0.09}]
chr8	GH08I135494	135494626	135495487	0.2	[{'connected_gene': 'LOC101927872', 'score': 8.02}, {'connected_gene': 'GC08P135499', 'score': 0.77}, {'connected_gene': 'KHDRBS3', 'score': 0.28}]
chr8	GH08I135513	135513893	135516907	0.86	[{'connected_gene': 'LOC101927872', 'score': 6.79}, {'connected_gene': 'GC08P135499', 'score': 0.37}, {'connected_gene': 'KHDRBS3', 'score': 0.22}, {'connected_gene': 'GC08M135625', 'score': 0.14}]
chr8	GH08I135455	135455599	135458987	1.89	[{'connected_gene': 'LOC101927872', 'score': 567.5}, {'connected_gene': 'KHDRBS3', 'score': 550.77}, {'connected_gene': 'PIR45588', 'score': 0.77}]
chr8	GH08I135454	135454770	135455208	0.22	[{'connected_gene': 'PIR45588', 'score': 550.77}, {'connected_gene': 'KHDRBS3', 'score': 3.61}, {'connected_gene': 'LOC101927872', 'score': 0.77}]
chr8	GH08I135640	135640877	135642244	0.56	[{'connected_gene': 'GC08P135639', 'score': 550.77}, {'connected_gene': 'PIR59482', 'score': 0.25}, {'connected_gene': 'GC08P135499', 'score': 0.11}, {'connected_gene': 'KHDRBS3', 'score': 0.09}]
chr8	GH08I135648	135648345	135648999	0.7	[{'connected_gene': 'GC08P135639', 'score': 0.44}, {'connected_gene': 'PIR59482', 'score': 0.26}, {'connected_gene': 'KHDRBS3', 'score': 0.08}]
chr8	GH08I135538	135538746	135539571	0.83	[{'connected_gene': 'GC08P135499', 'score': 0.28}, {'connected_gene': 'KHDRBS3', 'score': 0.18}, {'connected_gene': 'GC08M135625', 'score': 0.17}]
chr8	GH08I135579	135579839	135582185	0.79	[{'connected_gene': 'GC08M135625', 'score': 0.26}, {'connected_gene': 'GC08P135499', 'score': 0.18}, {'connected_gene': 'KHDRBS3', 'score': 0.13}]