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
ENST00000283713	[[38029549, 38029729], [38035077, 38035223], [38035388, 38035463], [38035751, 38035957], [38037229, 38037338], [38038567, 38038678], [38038973, 38039176], [38039580, 38039659], [38039756, 38039855], [38040402, 38040541], [38040829, 38040930], [38042946, 38043084], [38043192, 38043351], [38043886, 38044066], [38044658, 38044804], [38045745, 38045890], [38047282, 38047465], [38047671, 38047743], [38047939, 38048191], [38048432, 38048679]]	[[38035163, 38035223], [38035388, 38035463], [38035751, 38035957], [38037229, 38037338], [38038567, 38038678], [38038973, 38039176], [38039580, 38039659], [38039756, 38039855], [38040402, 38040541], [38040829, 38040930], [38042946, 38043084], [38043192, 38043351], [38043886, 38044066], [38044658, 38044804], [38045745, 38045890], [38047282, 38047465], [38047671, 38047743], [38047939, 38048191], [38048432, 38048546]]
ENST00000416303	[[38032216, 38032320], [38035077, 38035223], [38035388, 38035463], [38035751, 38035957], [38037229, 38037280]]	[[38035163, 38035223], [38035388, 38035463], [38035751, 38035957], [38037229, 38037280]]
ENST00000492491	[[38032624, 38032663], [38035077, 38035223], [38035388, 38035463], [38035751, 38035957], [38037229, 38037338], [38038567, 38038678]]	[[38035163, 38035223], [38035388, 38035463], [38035751, 38035957], [38037229, 38037338], [38038567, 38038678]]
ENST00000460040	[[38034883, 38035223], [38035388, 38035496]]	None
ENST00000383759	[[38035077, 38035223], [38035388, 38035463], [38035751, 38035957], [38037229, 38037338], [38038567, 38038678], [38038973, 38039176], [38039580, 38039659], [38039756, 38039855], [38040402, 38040541], [38040829, 38040930], [38042946, 38043084], [38043192, 38043351], [38043886, 38044066], [38044658, 38044804], [38045745, 38045890], [38047282, 38047465], [38047671, 38047743], [38047939, 38048191], [38048432, 38048676]]	[[38035163, 38035223], [38035388, 38035463], [38035751, 38035957], [38037229, 38037338], [38038567, 38038678], [38038973, 38039176], [38039580, 38039659], [38039756, 38039855], [38040402, 38040541], [38040829, 38040930], [38042946, 38043084], [38043192, 38043351], [38043886, 38044066], [38044658, 38044804], [38045745, 38045890], [38047282, 38047465], [38047671, 38047743], [38047939, 38048191], [38048432, 38048546]]
ENST00000484717	[[38035643, 38035957], [38037229, 38037338], [38038567, 38038678], [38038973, 38039176], [38039580, 38039659], [38039756, 38039855], [38040402, 38040541], [38040829, 38040930], [38042946, 38043084], [38043192, 38043971]]	None
ENST00000465644	[[38035643, 38035783], [38040420, 38040541], [38040829, 38040930], [38042946, 38043084], [38043192, 38043351], [38043886, 38044066], [38044658, 38044804], [38045745, 38045890], [38047282, 38047465], [38047671, 38047743], [38047939, 38048191], [38048432, 38048652]]	[[38035669, 38035783], [38040420, 38040541], [38040829, 38040930], [38042946, 38043084], [38043192, 38043351], [38043886, 38044066], [38044658, 38044804], [38045745, 38045890], [38047282, 38047465], [38047671, 38047743], [38047939, 38048191], [38048432, 38048546]]
ENST00000412008	[[38039808, 38039855], [38040402, 38040541], [38040829, 38040930], [38042412, 38042491], [38042946, 38043084], [38043192, 38043351], [38043886, 38044036]]	[[38039808, 38039855], [38040402, 38040541], [38040829, 38040930], [38042412, 38042430]]
ENST00000463080	[[38040722, 38040930], [38042946, 38043084], [38043192, 38043351], [38043886, 38044066], [38044658, 38044804]]	None
ENST00000486616	[[38042397, 38045890], [38047282, 38047465], [38047671, 38048191], [38048432, 38048675]]	None
ENST00000488209	[[38045554, 38045890], [38047282, 38047465], [38047671, 38047695]]	None
NM_015873	[[38035077, 38035223], [38035388, 38035463], [38035751, 38035957], [38037229, 38037338], [38038567, 38038678], [38038973, 38039176], [38039580, 38039659], [38039756, 38039855], [38040402, 38040541], [38040829, 38040930], [38042946, 38043084], [38043192, 38043351], [38043886, 38044066], [38044658, 38044804], [38045745, 38045890], [38047282, 38047465], [38047671, 38047743], [38047939, 38048191], [38048432, 38048676]]	[[38035163, 38035223], [38035388, 38035463], [38035751, 38035957], [38037229, 38037338], [38038567, 38038678], [38038973, 38039176], [38039580, 38039659], [38039756, 38039855], [38040402, 38040541], [38040829, 38040930], [38042946, 38043084], [38043192, 38043351], [38043886, 38044066], [38044658, 38044804], [38045745, 38045890], [38047282, 38047465], [38047671, 38047743], [38047939, 38048191], [38048432, 38048546]]

Promoter

Chrom	Start	End	Description
chr3	38029450	38029458	CAGE_peak_12_at_VILL_5end
chr3	38029462	38029495	CAGE_peak_3_at_VILL_5end
chr3	38032216	38032225	CAGE_peak_11_at_VILL_5end
chr3	38032245	38032254	CAGE_peak_9_at_VILL_5end
chr3	38032261	38032292	CAGE_peak_2_at_VILL_5end
chr3	38035610	38035687	CAGE_peak_1_at_VILL_5end
chr3	38045578	38045590	CAGE_peak_5_at_VILL_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr3	GH03I038163	38163201	38171195	2.78	[{'connected_gene': 'OXSR1', 'score': 590.52}, {'connected_gene': 'LOC101928234', 'score': 550.77}, {'connected_gene': 'GORASP1', 'score': 21.99}, {'connected_gene': 'NDUFAF4P3', 'score': 21.97}, {'connected_gene': 'ACAA1', 'score': 20.38}, {'connected_gene': 'MYD88', 'score': 19.35}, {'connected_gene': 'ACVR2B', 'score': 11.9}, {'connected_gene': 'C3orf35', 'score': 11.75}, {'connected_gene': 'SLC22A13', 'score': 11.07}, {'connected_gene': 'ACVR2B-AS1', 'score': 10.25}, {'connected_gene': 'VILL', 'score': 7.7}, {'connected_gene': 'PLCD1', 'score': 2.97}, {'connected_gene': 'DLEC1', 'score': 1.38}, {'connected_gene': 'SLC22A14', 'score': 1.29}, {'connected_gene': 'GC03P038253', 'score': 0.17}, {'connected_gene': 'PIR62277', 'score': 0.17}]
chr3	GH03I038147	38147435	38150399	1.44	[{'connected_gene': 'SLC22A13', 'score': 10.42}, {'connected_gene': 'VILL', 'score': 8.54}, {'connected_gene': 'MYD88', 'score': 4.66}, {'connected_gene': 'PLCD1', 'score': 4.34}, {'connected_gene': 'OXSR1', 'score': 3.84}]
chr3	GH03I038267	38267353	38268040	0.4	[{'connected_gene': 'SLC22A13', 'score': 550.77}, {'connected_gene': 'RNU6-235P', 'score': 12.88}, {'connected_gene': 'XYLB', 'score': 10.98}, {'connected_gene': 'MYD88', 'score': 10.84}, {'connected_gene': 'ACAA1', 'score': 10.83}, {'connected_gene': 'VILL', 'score': 9.62}, {'connected_gene': 'LOC101409262', 'score': 0.77}, {'connected_gene': 'GC03M038270', 'score': 0.77}]
chr3	GH03I038011	38011010	38011734	0.31	[{'connected_gene': 'VILL', 'score': 13.93}, {'connected_gene': 'GC03P038014', 'score': 0.77}, {'connected_gene': 'PLCD1', 'score': 0.37}]
chr3	GH03I038150	38150601	38155625	1.55	[{'connected_gene': 'VILL', 'score': 14.02}, {'connected_gene': 'MYD88', 'score': 12.88}, {'connected_gene': 'OXSR1', 'score': 12.78}, {'connected_gene': 'ACAA1', 'score': 11.61}]
chr3	GH03I037984	37984568	37999694	2.49	[{'connected_gene': 'VILL', 'score': 569.0}, {'connected_gene': 'C3orf35', 'score': 31.67}, {'connected_gene': 'CTDSPL', 'score': 20.72}, {'connected_gene': 'OXSR1', 'score': 18.39}, {'connected_gene': 'ITGA9-AS1', 'score': 10.97}, {'connected_gene': 'GC03P038014', 'score': 0.34}]
chr3	GH03I038015	38015041	38021270	0.88	[{'connected_gene': 'VILL', 'score': 12.66}, {'connected_gene': 'CTDSPL', 'score': 11.63}, {'connected_gene': 'ITGA9-AS1', 'score': 11.63}, {'connected_gene': 'PLCD1', 'score': 4.97}, {'connected_gene': 'ENSG00000200579', 'score': 0.77}]
chr3	GH03I037961	37961177	37965892	1.22	[{'connected_gene': 'VILL', 'score': 20.3}, {'connected_gene': 'CTDSPL', 'score': 12.87}, {'connected_gene': 'ITGA9-AS1', 'score': 12.87}, {'connected_gene': 'GC03P037965', 'score': 0.77}]
chr3	GH03I037955	37955530	37957999	0.71	[{'connected_gene': 'VILL', 'score': 19.38}, {'connected_gene': 'CTDSPL', 'score': 17.26}, {'connected_gene': 'ITGA9-AS1', 'score': 12.41}, {'connected_gene': 'GC03P037965', 'score': 0.44}]
chr3	GH03I037864	37864330	37864479	0.52	[{'connected_gene': 'VILL', 'score': 11.43}, {'connected_gene': 'CTDSPL', 'score': 0.77}, {'connected_gene': 'GC03P037965', 'score': 0.15}]
chr3	GH03I038001	38001608	38006292	1.61	[{'connected_gene': 'VILL', 'score': 18.56}, {'connected_gene': 'ENSG00000271653', 'score': 12.25}, {'connected_gene': 'ITGA9-AS1', 'score': 10.82}, {'connected_gene': 'SLC22A14', 'score': 3.5}, {'connected_gene': 'GC03P038014', 'score': 0.39}]
chr3	GH03I038102	38102002	38102902	0.63	[{'connected_gene': 'MYD88', 'score': 13.96}, {'connected_gene': 'VILL', 'score': 13.76}, {'connected_gene': 'ACAA1', 'score': 11.76}, {'connected_gene': 'SLC22A13', 'score': 11.07}, {'connected_gene': 'PLCD1', 'score': 6.24}, {'connected_gene': 'OXSR1', 'score': 2.95}, {'connected_gene': 'SLC22A14', 'score': 2.92}, {'connected_gene': 'PIR60395', 'score': 0.39}, {'connected_gene': 'GC03M038048', 'score': 0.25}, {'connected_gene': 'DLEC1', 'score': 0.21}]
chr3	GH03I037968	37968012	37970732	0.58	[{'connected_gene': 'MIR26A1', 'score': 550.77}, {'connected_gene': 'CTDSPL', 'score': 12.82}, {'connected_gene': 'ITGA9-AS1', 'score': 12.82}, {'connected_gene': 'VILL', 'score': 7.28}, {'connected_gene': 'GC03P037965', 'score': 0.77}]
chr3	GH03I038268	38268201	38269000	0.31	[{'connected_gene': 'RNU6-235P', 'score': 12.88}, {'connected_gene': 'XYLB', 'score': 10.98}, {'connected_gene': 'ACAA1', 'score': 10.83}, {'connected_gene': 'MYD88', 'score': 10.83}, {'connected_gene': 'VILL', 'score': 9.62}, {'connected_gene': 'DLEC1', 'score': 4.26}, {'connected_gene': 'SLC22A13', 'score': 0.77}, {'connected_gene': 'LOC101409262', 'score': 0.77}, {'connected_gene': 'GC03M038270', 'score': 0.77}]
chr3	GH03I037922	37922212	37925466	0.99	[{'connected_gene': 'CTDSPL', 'score': 19.08}, {'connected_gene': 'ITGA9-AS1', 'score': 12.25}, {'connected_gene': 'VILL', 'score': 11.47}, {'connected_gene': 'GC03P037965', 'score': 0.26}]
chr3	GH03I037940	37940835	37941363	0.31	[{'connected_gene': 'CTDSPL', 'score': 12.19}, {'connected_gene': 'ITGA9-AS1', 'score': 12.19}, {'connected_gene': 'VILL', 'score': 11.36}, {'connected_gene': 'GC03P037965', 'score': 0.34}]
chr3	GH03I037859	37859714	37864325	2.5	[{'connected_gene': 'CTDSPL', 'score': 556.06}, {'connected_gene': 'ITGA9-AS1', 'score': 550.77}, {'connected_gene': 'VILL', 'score': 11.43}, {'connected_gene': 'GC03P037965', 'score': 0.15}]
chr3	GH03I037954	37954264	37955245	0.2	[{'connected_gene': 'CTDSPL', 'score': 17.89}, {'connected_gene': 'ITGA9-AS1', 'score': 12.41}, {'connected_gene': 'VILL', 'score': 11.85}, {'connected_gene': 'GC03P037965', 'score': 0.39}]
chr3	GH03I037900	37900885	37902214	0.31	[{'connected_gene': 'CTDSPL', 'score': 12.66}, {'connected_gene': 'ITGA9-AS1', 'score': 12.66}, {'connected_gene': 'VILL', 'score': 11.46}, {'connected_gene': 'GC03P037965', 'score': 0.21}]
chr3	GH03I037949	37949743	37950386	0.2	[{'connected_gene': 'CTDSPL', 'score': 11.98}, {'connected_gene': 'ITGA9-AS1', 'score': 11.98}, {'connected_gene': 'VILL', 'score': 10.88}, {'connected_gene': 'GC03P037965', 'score': 0.37}]
chr3	GH03I037934	37934124	37938629	1.25	[{'connected_gene': 'CTDSPL', 'score': 19.03}, {'connected_gene': 'ITGA9-AS1', 'score': 12.2}, {'connected_gene': 'VILL', 'score': 11.34}, {'connected_gene': 'GC03P037965', 'score': 0.31}]
chr3	GH03I037899	37899185	37900635	1.15	[{'connected_gene': 'CTDSPL', 'score': 12.66}, {'connected_gene': 'ITGA9-AS1', 'score': 12.66}, {'connected_gene': 'VILL', 'score': 11.46}, {'connected_gene': 'GC03P037965', 'score': 0.2}]
chr3	GH03I037884	37884031	37889409	0.52	[{'connected_gene': 'CTDSPL', 'score': 12.17}, {'connected_gene': 'ITGA9-AS1', 'score': 12.17}, {'connected_gene': 'VILL', 'score': 10.88}, {'connected_gene': 'GC03P037965', 'score': 0.18}]
chr3	GH03I037941	37941729	37947465	1.2	[{'connected_gene': 'CTDSPL', 'score': 19.05}, {'connected_gene': 'ITGA9-AS1', 'score': 12.19}, {'connected_gene': 'MIR26A1', 'score': 11.8}, {'connected_gene': 'VILL', 'score': 11.37}, {'connected_gene': 'GC03P037965', 'score': 0.34}]
chr3	GH03I038010	38010001	38010400	0.51	[{'connected_gene': 'GC03P038014', 'score': 0.77}, {'connected_gene': 'PLCD1', 'score': 0.37}, {'connected_gene': 'VILL', 'score': 0.34}]
chr3	GH03I037967	37967201	37967601	1.09	[{'connected_gene': 'GC03P037965', 'score': 550.77}, {'connected_gene': 'VILL', 'score': 19.41}, {'connected_gene': 'CTDSPL', 'score': 12.82}, {'connected_gene': 'ITGA9-AS1', 'score': 12.82}, {'connected_gene': 'MIR26A1', 'score': 0.77}]
chr3	GH03I037979	37979572	37980881	0.57	[{'connected_gene': 'GC03P037979', 'score': 550.77}, {'connected_gene': 'VILL', 'score': 10.22}, {'connected_gene': 'CTDSPL', 'score': 0.13}]