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
ENST00000356692	[[73045935, 73046222], [73047227, 73047309], [73096336, 73096507], [73108187, 73108281], [73110173, 73110211], [73112823, 73112898], [73113153, 73113297], [73114002, 73114292], [73114547, 73118350]]	[[73046188, 73046222], [73047227, 73047309], [73096336, 73096507], [73108187, 73108281], [73110173, 73110211], [73112823, 73112898], [73113153, 73113297], [73114002, 73114292], [73114547, 73114873]]
ENST00000482242	[[73045953, 73046222], [73047227, 73047309], [73108187, 73108281], [73110173, 73110211], [73112823, 73112898], [73113215, 73113297], [73114002, 73114133]]	[[73046188, 73046222], [73047227, 73047309], [73108187, 73108281], [73110173, 73110211], [73112823, 73112898], [73113215, 73113243]]
ENST00000470976	[[73045968, 73046222], [73047227, 73047309], [73096336, 73096507], [73108187, 73108281], [73110173, 73110605]]	None
ENST00000488810	[[73045989, 73046222], [73047227, 73047309], [73096336, 73096507], [73108187, 73108281], [73110173, 73110211], [73113153, 73113297], [73114002, 73114117]]	[[73046188, 73046222], [73047227, 73047309], [73096336, 73096507], [73108187, 73108281], [73110173, 73110211], [73113153, 73113297], [73114002, 73114117]]
ENST00000394284	[[73045990, 73046222], [73047227, 73047309], [73108187, 73108281], [73110173, 73110211], [73112823, 73112898], [73113153, 73113297], [73114002, 73114292], [73114547, 73116290]]	[[73046188, 73046222], [73047227, 73047309], [73108187, 73108281], [73110173, 73110211], [73112823, 73112898], [73113153, 73113297], [73114002, 73114292], [73114547, 73114873]]
ENST00000295862	[[73045990, 73046222], [73047227, 73047309], [73096336, 73096507], [73108187, 73108281], [73110173, 73110211], [73112823, 73112898], [73113153, 73113297], [73114002, 73114292], [73114547, 73116290]]	[[73096388, 73096507], [73108187, 73108281], [73110173, 73110211], [73112823, 73112898], [73113153, 73113297], [73114002, 73114292], [73114547, 73114873]]
ENST00000495566	[[73046127, 73046222], [73047227, 73047309], [73064065, 73064134], [73064972, 73065285]]	[[73046188, 73046222], [73047227, 73047309], [73064065, 73064134], [73064972, 73064997]]
ENST00000476505	[[73046508, 73046563], [73047227, 73047309], [73096336, 73096507], [73108187, 73108202]]	[[73047307, 73047309], [73096336, 73096507], [73108187, 73108202]]
ENST00000460360	[[73113164, 73113297], [73114002, 73114441]]	[[73113164, 73113297], [73114002, 73114300]]
NM_001318026	[[73045893, 73045951], [73047227, 73047309], [73096336, 73096507], [73108187, 73108281], [73110173, 73110211], [73112823, 73112898], [73113153, 73113297], [73114002, 73114292], [73114547, 73118352]]	[[73047307, 73047309], [73096336, 73096507], [73108187, 73108281], [73110173, 73110211], [73112823, 73112898], [73113153, 73113297], [73114002, 73114292], [73114547, 73114873]]
NM_001318028	[[73045935, 73046222], [73047227, 73047309], [73064065, 73064134], [73064972, 73065285]]	[[73046188, 73046222], [73047227, 73047309], [73064065, 73064134], [73064972, 73064997]]
NM_001318027	[[73045935, 73046222], [73047227, 73047309], [73108187, 73108281], [73110173, 73110211], [73112823, 73112898], [73113215, 73113297], [73114002, 73114292], [73114547, 73118352]]	[[73112855, 73112898], [73113215, 73113297], [73114002, 73114292], [73114547, 73114873]]
NM_001318025	[[73045935, 73046222], [73047227, 73047309], [73108187, 73108281], [73110173, 73110211], [73112823, 73112898], [73113153, 73113297], [73114002, 73114292], [73114547, 73118352]]	[[73046188, 73046222], [73047227, 73047309], [73108187, 73108281], [73110173, 73110211], [73112823, 73112898], [73113153, 73113297], [73114002, 73114292], [73114547, 73114873]]
NM_174907	[[73045935, 73046222], [73047227, 73047309], [73096336, 73096507], [73108187, 73108281], [73110173, 73110211], [73112823, 73112898], [73113153, 73113297], [73114002, 73114292], [73114547, 73118352]]	[[73046188, 73046222], [73047227, 73047309], [73096336, 73096507], [73108187, 73108281], [73110173, 73110211], [73112823, 73112898], [73113153, 73113297], [73114002, 73114292], [73114547, 73114873]]

Promoter

Chrom	Start	End	Description
chr3	73045937	73046030	CAGE_peak_1_at_PPP4R2_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr3	GH03I072937	72937897	72939654	1.17	[{'connected_gene': 'GXYLT2', 'score': 14.07}, {'connected_gene': 'SHQ1', 'score': 11.1}, {'connected_gene': 'GC03M072929', 'score': 0.44}, {'connected_gene': 'PPP4R2', 'score': 0.22}]
chr3	GH03I072945	72945400	72945801	0.76	[{'connected_gene': 'GXYLT2', 'score': 12.4}, {'connected_gene': 'PPP4R2', 'score': 11.44}, {'connected_gene': 'SHQ1', 'score': 11.18}, {'connected_gene': 'GC03M072929', 'score': 0.37}]
chr3	GH03I072959	72959391	72963288	1.15	[{'connected_gene': 'GXYLT2', 'score': 21.28}, {'connected_gene': 'PPP4R2', 'score': 12.15}, {'connected_gene': 'GC03M072929', 'score': 0.29}]
chr3	GH03I072965	72965306	72966896	0.63	[{'connected_gene': 'GXYLT2', 'score': 13.53}, {'connected_gene': 'PPP4R2', 'score': 12.17}, {'connected_gene': 'GC03M072929', 'score': 0.28}]
chr3	GH03I072951	72951310	72951459	0.92	[{'connected_gene': 'GXYLT2', 'score': 4.52}, {'connected_gene': 'GC03M072929', 'score': 0.34}, {'connected_gene': 'PPP4R2', 'score': 0.25}]
chr3	GH03I072967	72967170	72968806	1.13	[{'connected_gene': 'GXYLT2', 'score': 18.84}, {'connected_gene': 'PPP4R2', 'score': 11.86}, {'connected_gene': 'GC03M072929', 'score': 0.28}]
chr3	GH03I072955	72955957	72958173	1.04	[{'connected_gene': 'GXYLT2', 'score': 13.42}, {'connected_gene': 'PPP4R2', 'score': 12.15}, {'connected_gene': 'GC03M072929', 'score': 0.31}]
chr3	GH03I072952	72952415	72954192	1.16	[{'connected_gene': 'GXYLT2', 'score': 13.04}, {'connected_gene': 'GC03M072929', 'score': 0.34}, {'connected_gene': 'PPP4R2', 'score': 0.26}]
chr3	GH03I072948	72948046	72948498	0.2	[{'connected_gene': 'GXYLT2', 'score': 4.64}, {'connected_gene': 'GC03M072929', 'score': 0.37}, {'connected_gene': 'PPP4R2', 'score': 0.25}]
chr3	GH03I073095	73094841	73095349	0.2	[{'connected_gene': 'SHQ1', 'score': 10.78}, {'connected_gene': 'PPP4R2', 'score': 8.11}, {'connected_gene': 'RNU6-557P', 'score': 0.77}, {'connected_gene': 'RNU2-64P', 'score': 0.37}]
chr3	GH03I073061	73060550	73060719	0.31	[{'connected_gene': 'EBLN2', 'score': 550.77}, {'connected_gene': 'SHQ1', 'score': 11.28}, {'connected_gene': 'GC03P073027', 'score': 0.29}, {'connected_gene': 'PPP4R2', 'score': 0.21}]
chr3	GH03I073060	73060950	73061891	0.7	[{'connected_gene': 'EBLN2', 'score': 550.77}, {'connected_gene': 'SHQ1', 'score': 11.28}, {'connected_gene': 'GC03P073027', 'score': 0.29}, {'connected_gene': 'PPP4R2', 'score': 0.21}]
chr3	GH03I072818	72818028	72823209	1.39	[{'connected_gene': 'RYBP', 'score': 15.12}, {'connected_gene': 'SHQ1', 'score': 5.26}, {'connected_gene': 'PPP4R2', 'score': 1.55}, {'connected_gene': 'GXYLT2', 'score': 0.31}, {'connected_gene': 'ENSG00000241537', 'score': 0.25}]
chr3	GH03I072497	72497668	72497901	0.3	[{'connected_gene': 'RYBP', 'score': 8.1}, {'connected_gene': 'PPP4R2', 'score': 7.65}, {'connected_gene': 'GC03P072480', 'score': 0.37}, {'connected_gene': 'ENSG00000244345', 'score': 0.23}]
chr3	GH03I072972	72972078	72973970	1.27	[{'connected_gene': 'PPP4R2', 'score': 24.46}, {'connected_gene': 'GXYLT2', 'score': 23.16}, {'connected_gene': 'EBLN2', 'score': 2.34}, {'connected_gene': 'GC03M072929', 'score': 0.26}]
chr3	GH03I072976	72976001	72976801	0.2	[{'connected_gene': 'PPP4R2', 'score': 12.03}, {'connected_gene': 'GC03M072929', 'score': 0.25}, {'connected_gene': 'GXYLT2', 'score': 0.13}]
chr3	GH03I072977	72977200	72977698	0.9	[{'connected_gene': 'PPP4R2', 'score': 0.37}, {'connected_gene': 'GC03M072929', 'score': 0.25}, {'connected_gene': 'GXYLT2', 'score': 0.13}]
chr3	GH03I073055	73055801	73056639	0.76	[{'connected_gene': 'PPP4R2', 'score': 30.63}, {'connected_gene': 'SHQ1', 'score': 11.63}, {'connected_gene': 'RNU2-64P', 'score': 10.63}, {'connected_gene': 'EBLN2', 'score': 0.44}, {'connected_gene': 'GC03P073027', 'score': 0.31}]
chr3	GH03I073070	73070221	73072135	0.63	[{'connected_gene': 'PPP4R2', 'score': 27.08}, {'connected_gene': 'SHQ1', 'score': 11.13}, {'connected_gene': 'GC03P073067', 'score': 0.77}, {'connected_gene': 'GC03P073091', 'score': 0.34}]
chr3	GH03I073000	73000018	73000182	0.5	[{'connected_gene': 'PPP4R2', 'score': 13.02}, {'connected_gene': 'EBLN2', 'score': 2.48}, {'connected_gene': 'RNU7-19P', 'score': 0.31}]
chr3	GH03I073037	73037374	73038667	1.04	[{'connected_gene': 'PPP4R2', 'score': 27.76}, {'connected_gene': 'GC03P073027', 'score': 0.39}, {'connected_gene': 'EBLN2', 'score': 0.34}]
chr3	GH03I073032	73032401	73032600	0.2	[{'connected_gene': 'PPP4R2', 'score': 11.45}, {'connected_gene': 'GC03P073027', 'score': 0.77}, {'connected_gene': 'EBLN2', 'score': 0.31}]
chr3	GH03I073038	73037130	73037279	0.69	[{'connected_gene': 'PPP4R2', 'score': 11.38}, {'connected_gene': 'GC03P073027', 'score': 0.44}, {'connected_gene': 'EBLN2', 'score': 0.34}]
chr3	GH03I073035	73035201	73035600	0.2	[{'connected_gene': 'PPP4R2', 'score': 11.92}, {'connected_gene': 'GC03P073027', 'score': 0.44}, {'connected_gene': 'EBLN2', 'score': 0.31}]
chr3	GH03I073100	73100888	73101982	0.67	[{'connected_gene': 'PPP4R2', 'score': 10.81}, {'connected_gene': 'RNU2-64P', 'score': 0.44}, {'connected_gene': 'RNU6-557P', 'score': 0.44}]
chr3	GH03I072995	72995655	72999645	2.19	[{'connected_gene': 'PPP4R2', 'score': 571.05}, {'connected_gene': 'RNU7-19P', 'score': 0.29}, {'connected_gene': 'GXYLT2', 'score': 0.11}]
chr3	GH03I073016	73016857	73017986	0.2	[{'connected_gene': 'PPP4R2', 'score': 20.53}, {'connected_gene': 'RNU7-19P', 'score': 0.39}]
chr3	GH03I073010	73010410	73010559	0.4	[{'connected_gene': 'PPP4R2', 'score': 0.39}, {'connected_gene': 'RNU7-19P', 'score': 0.37}]
chr3	GH03I073023	73023201	73023400	0.31	[{'connected_gene': 'PPP4R2', 'score': 27.04}, {'connected_gene': 'RNU7-19P', 'score': 0.77}]
chr3	GH03I073002	73002290	73003079	0.8	[{'connected_gene': 'PPP4R2', 'score': 20.63}, {'connected_gene': 'RNU7-19P', 'score': 0.31}]
chr3	GH03I073024	73024340	73025104	0.63	[{'connected_gene': 'PPP4R2', 'score': 13.03}, {'connected_gene': 'RNU7-19P', 'score': 0.77}]
chr3	GH03I073028	73028615	73030620	1.09	[{'connected_gene': 'RNU7-19P', 'score': 550.77}, {'connected_gene': 'GC03P073027', 'score': 550.77}, {'connected_gene': 'PPP4R2', 'score': 29.11}, {'connected_gene': 'EBLN2', 'score': 0.29}]
chr3	GH03I073022	73022001	73022200	0.2	[{'connected_gene': 'RNU7-19P', 'score': 0.44}, {'connected_gene': 'PPP4R2', 'score': 0.31}]
chr3	GH03I072950	72950801	72951099	0.86	[{'connected_gene': 'GC03M072929', 'score': 0.34}, {'connected_gene': 'PPP4R2', 'score': 0.25}, {'connected_gene': 'GXYLT2', 'score': 0.15}]