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
ENST00000446845	[[38206995, 38207437], [38224493, 38224606], [38232221, 38232330], [38240212, 38240354], [38257586, 38257642], [38263068, 38263178], [38265302, 38265404], [38266061, 38266195], [38271177, 38271226], [38271855, 38271921], [38278329, 38278452], [38284233, 38284269], [38287565, 38287712], [38289158, 38289223], [38291456, 38291670]]	[[38207367, 38207437], [38224493, 38224606], [38232221, 38232330], [38240212, 38240354], [38257586, 38257642], [38263068, 38263178], [38265302, 38265404], [38266061, 38266195], [38271177, 38271226], [38271855, 38271921], [38278329, 38278452], [38284233, 38284269], [38287565, 38287712], [38289158, 38289223], [38291456, 38291541]]
ENST00000311806	[[38206995, 38207437], [38224493, 38224606], [38232221, 38232330], [38240212, 38240354], [38257586, 38257642], [38263068, 38263178], [38265302, 38265404], [38266061, 38266195], [38271177, 38271226], [38271855, 38271921], [38278329, 38278452], [38284233, 38284269], [38287565, 38287712], [38289158, 38289223], [38291456, 38291509], [38292893, 38292962], [38293818, 38293883], [38294307, 38296979]]	[[38207367, 38207437], [38224493, 38224606], [38232221, 38232330], [38240212, 38240354], [38257586, 38257642], [38263068, 38263178], [38265302, 38265404], [38266061, 38266195], [38271177, 38271226], [38271855, 38271921], [38278329, 38278452], [38284233, 38284269], [38287565, 38287712], [38289158, 38289223], [38291456, 38291509], [38292893, 38292962], [38293818, 38293883], [38294307, 38294382]]
ENST00000492714	[[38206579, 38207005], [38224493, 38224538]]	None
ENST00000426620	[[38207137, 38207437], [38224493, 38224606], [38232221, 38232330], [38234772, 38234909], [38240212, 38240354], [38257586, 38257642], [38263068, 38263178], [38265302, 38265404], [38266061, 38266195], [38271177, 38271226], [38271855, 38272184]]	[[38207367, 38207437], [38224493, 38224606], [38232221, 38232330], [38234772, 38234822]]
ENST00000483695	[[38257584, 38257642], [38263068, 38263178], [38265302, 38265404], [38266061, 38266560]]	None
ENST00000467900	[[38278151, 38278452], [38284233, 38284269], [38287565, 38287712], [38289158, 38289223], [38291456, 38291509], [38292893, 38292903]]	None
NM_005109	[[38207025, 38207437], [38224493, 38224606], [38232221, 38232330], [38240212, 38240354], [38257586, 38257642], [38263068, 38263178], [38265302, 38265404], [38266061, 38266195], [38271177, 38271226], [38271855, 38271921], [38278329, 38278452], [38284233, 38284269], [38287565, 38287712], [38289158, 38289223], [38291456, 38291509], [38292893, 38292962], [38293818, 38293883], [38294307, 38296979]]	[[38207367, 38207437], [38224493, 38224606], [38232221, 38232330], [38240212, 38240354], [38257586, 38257642], [38263068, 38263178], [38265302, 38265404], [38266061, 38266195], [38271177, 38271226], [38271855, 38271921], [38278329, 38278452], [38284233, 38284269], [38287565, 38287712], [38289158, 38289223], [38291456, 38291509], [38292893, 38292962], [38293818, 38293883], [38294307, 38294382]]

Promoter

Chrom	Start	End	Description
chr3	38206975	38207101	CAGE_peak_1_at_OXSR1_5end
chr3	38207105	38207146	CAGE_peak_2_at_OXSR1_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	GH03I038174	38174090	38174239	0.43	[{'connected_gene': 'OXSR1', 'score': 0.44}, {'connected_gene': 'LOC101928234', 'score': 0.44}, {'connected_gene': 'GC03P038253', 'score': 0.18}, {'connected_gene': 'PIR62277', 'score': 0.18}]
chr3	GH03I038175	38174480	38175419	0.62	[{'connected_gene': 'OXSR1', 'score': 0.44}, {'connected_gene': 'LOC101928234', 'score': 0.44}, {'connected_gene': 'GC03P038253', 'score': 0.18}, {'connected_gene': 'PIR62277', 'score': 0.18}]
chr3	GH03I038346	38346150	38348133	2.07	[{'connected_gene': 'XYLB', 'score': 555.89}, {'connected_gene': 'OXSR1', 'score': 14.19}, {'connected_gene': 'GORASP1', 'score': 11.11}, {'connected_gene': 'WDR48', 'score': 10.76}, {'connected_gene': 'SCN11A', 'score': 4.07}, {'connected_gene': 'PIR42930', 'score': 0.26}]
chr3	GH03I038495	38495413	38497299	2.02	[{'connected_gene': 'EXOG', 'score': 566.37}, {'connected_gene': 'SNORA62', 'score': 23.98}, {'connected_gene': 'GORASP1', 'score': 23.26}, {'connected_gene': 'OXSR1', 'score': 23.07}, {'connected_gene': 'GC03M038505', 'score': 0.44}, {'connected_gene': 'ENSG00000207512', 'score': 0.44}]
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	GH03I038246	38246990	38248324	0.6	[{'connected_gene': 'SLC22A14', 'score': 11.34}, {'connected_gene': 'ACAA1', 'score': 10.25}, {'connected_gene': 'RNU6-1227P', 'score': 9.01}, {'connected_gene': 'EXOG', 'score': 4.28}, {'connected_gene': 'GC03P038253', 'score': 0.44}, {'connected_gene': 'PIR62277', 'score': 0.44}, {'connected_gene': 'OXSR1', 'score': 0.18}, {'connected_gene': 'LOC101928234', 'score': 0.18}]
chr3	GH03I038722	38722136	38726916	1.37	[{'connected_gene': 'GORASP1', 'score': 14.45}, {'connected_gene': 'SNORA62', 'score': 13.1}, {'connected_gene': 'ENSG00000231243', 'score': 10.67}, {'connected_gene': 'RNU6-1227P', 'score': 10.07}, {'connected_gene': 'OXSR1', 'score': 9.7}, {'connected_gene': 'SCN10A', 'score': 0.2}, {'connected_gene': 'SCN5A', 'score': 0.19}]
chr3	GH03I038157	38157316	38158199	0.63	[{'connected_gene': 'GORASP1', 'score': 23.2}, {'connected_gene': 'NDUFAF4P3', 'score': 19.12}, {'connected_gene': 'ACVR2B', 'score': 13.8}, {'connected_gene': 'ACAA1', 'score': 12.23}, {'connected_gene': 'OXSR1', 'score': 0.44}, {'connected_gene': 'LOC101928234', 'score': 0.44}, {'connected_gene': 'MYD88', 'score': 0.37}]
chr3	GH03I039145	39145744	39156449	2.84	[{'connected_gene': 'CSRNP1', 'score': 562.05}, {'connected_gene': 'ENSG00000283849', 'score': 550.77}, {'connected_gene': 'LOC101928263', 'score': 550.77}, {'connected_gene': 'GORASP1', 'score': 52.31}, {'connected_gene': 'TTC21A', 'score': 23.41}, {'connected_gene': 'SNORA62', 'score': 22.39}, {'connected_gene': 'CX3CR1', 'score': 22.21}, {'connected_gene': 'XIRP1', 'score': 11.47}, {'connected_gene': 'MOBP', 'score': 11.35}, {'connected_gene': 'ACVR2B-AS1', 'score': 9.87}, {'connected_gene': 'OXSR1', 'score': 9.69}, {'connected_gene': 'EXOG', 'score': 4.75}, {'connected_gene': 'WDR48', 'score': 1.88}, {'connected_gene': 'ENSG00000284669', 'score': 0.77}]
chr3	GH03I039050	39050812	39053218	2.06	[{'connected_gene': 'WDR48', 'score': 550.77}, {'connected_gene': 'OXSR1', 'score': 16.24}, {'connected_gene': 'TTC21A', 'score': 12.1}, {'connected_gene': 'SNORA62', 'score': 11.05}, {'connected_gene': 'PIR55888', 'score': 0.25}, {'connected_gene': 'GC03M039097', 'score': 0.25}]
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	GH03I038141	38141990	38142139	0.46	[{'connected_gene': 'MYD88', 'score': 0.77}, {'connected_gene': 'OXSR1', 'score': 0.34}]
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	GH03I037764	37764464	37769098	1.83	[{'connected_gene': 'ITGA9', 'score': 13.79}, {'connected_gene': 'OXSR1', 'score': 4.97}, {'connected_gene': 'GC03P037748', 'score': 0.37}, {'connected_gene': 'NDUFAF4P3', 'score': 0.34}, {'connected_gene': 'ITGA9-AS1', 'score': 0.16}]
chr3	GH03I038185	38185770	38185919	0.2	[{'connected_gene': 'ACAA1', 'score': 5.35}, {'connected_gene': 'OXSR1', 'score': 0.34}, {'connected_gene': 'LOC101928234', 'score': 0.34}, {'connected_gene': 'GC03P038253', 'score': 0.2}, {'connected_gene': 'PIR62277', 'score': 0.2}]
chr3	GH03I038190	38190630	38190779	0.2	[{'connected_gene': 'ACAA1', 'score': 11.26}, {'connected_gene': 'MYD88', 'score': 11.26}, {'connected_gene': 'OXSR1', 'score': 0.31}, {'connected_gene': 'LOC101928234', 'score': 0.31}, {'connected_gene': 'GC03P038253', 'score': 0.21}, {'connected_gene': 'PIR62277', 'score': 0.21}]
chr3	GH03I038227	38227461	38228600	0.66	[{'connected_gene': 'ACAA1', 'score': 16.16}, {'connected_gene': 'MYD88', 'score': 11.24}, {'connected_gene': 'GC03P038253', 'score': 0.31}, {'connected_gene': 'PIR62277', 'score': 0.31}, {'connected_gene': 'OXSR1', 'score': 0.21}, {'connected_gene': 'LOC101928234', 'score': 0.21}]
chr3	GH03I038129	38129119	38140031	2.28	[{'connected_gene': 'ACAA1', 'score': 560.89}, {'connected_gene': 'MYD88', 'score': 550.77}, {'connected_gene': 'OXSR1', 'score': 5.51}, {'connected_gene': 'PIR37756', 'score': 0.77}, {'connected_gene': 'ENSG00000201965', 'score': 0.44}, {'connected_gene': 'GC03M038125', 'score': 0.44}]
chr3	GH03I039124	39124850	39128079	1.26	[{'connected_gene': 'TTC21A', 'score': 13.24}, {'connected_gene': 'CSRNP1', 'score': 12.97}, {'connected_gene': 'GORASP1', 'score': 12.7}, {'connected_gene': 'OXSR1', 'score': 12.63}, {'connected_gene': 'SNORA62', 'score': 11.32}, {'connected_gene': 'XIRP1', 'score': 10.18}, {'connected_gene': 'CX3CR1', 'score': 9.93}, {'connected_gene': 'MIR6822', 'score': 0.39}]
chr3	GH03I037707	37707487	37708927	0.31	[{'connected_gene': 'RNU7-73P', 'score': 11.09}, {'connected_gene': 'OXSR1', 'score': 4.75}, {'connected_gene': 'GC03P037721', 'score': 0.39}, {'connected_gene': 'ITGA9', 'score': 0.07}]