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
ENST00000392314	[[192813768, 192815190], [192818404, 192818563], [192820980, 192821104], [192862987, 192863047], [192863785, 192863934], [192922404, 192922501], [193044393, 193044420], [193049079, 193049209], [193056605, 193056715], [193059078, 193059642]]	[[192815177, 192815190], [192818404, 192818563], [192820980, 192821104], [192862987, 192863047], [192863785, 192863934], [192922404, 192922501], [193044393, 193044420], [193049079, 193049209], [193056605, 193056715], [193059078, 193059250]]
ENST00000272771	[[192814742, 192815133], [192818404, 192818563], [192820980, 192821104], [192862987, 192863047], [192863785, 192863934], [192922404, 192922501], [193044393, 193044420], [193049079, 193049209], [193056605, 193056715], [193059078, 193060435]]	[[192815036, 192815133], [192818404, 192818563], [192820980, 192821104], [192862987, 192863047], [192863785, 192863934], [192922404, 192922501], [193044393, 193044420], [193049079, 193049209], [193056605, 193056715], [193059078, 193059250]]
ENST00000487771	[[192857389, 192857461], [192862987, 192863047], [192863785, 192863931]]	None
ENST00000409056	[[193041468, 193044420], [193049079, 193049209], [193056605, 193056715], [193059078, 193059250]]	[[193044304, 193044420], [193049079, 193049209], [193056605, 193056715], [193059078, 193059250]]
NM_001305134	[[192813771, 192815190], [192818404, 192818563], [192820980, 192821104], [192862987, 192863047], [192863785, 192863934], [192922404, 192922501], [193044393, 193044420], [193049079, 193049209], [193056605, 193056715], [193059078, 193059659]]	[[192815177, 192815190], [192818404, 192818563], [192820980, 192821104], [192862987, 192863047], [192863785, 192863934], [192922404, 192922501], [193044393, 193044420], [193049079, 193049209], [193056605, 193056715], [193059078, 193059250]]
NM_016192	[[192813771, 192815133], [192818404, 192818563], [192820980, 192821104], [192862987, 192863047], [192863785, 192863934], [192922404, 192922501], [193044393, 193044420], [193049079, 193049209], [193056605, 193056715], [193059078, 193059659]]	[[192815036, 192815133], [192818404, 192818563], [192820980, 192821104], [192862987, 192863047], [192863785, 192863934], [192922404, 192922501], [193044393, 193044420], [193049079, 193049209], [193056605, 193056715], [193059078, 193059250]]
NM_001305145	[[193041468, 193044420], [193049079, 193049209], [193056605, 193056715], [193059078, 193059659]]	[[193044304, 193044420], [193049079, 193049209], [193056605, 193056715], [193059078, 193059250]]

Promoter

Chrom	Start	End	Description
chr2	193059352	193059402	CAGE_peak_3_at_TMEFF2_5end
chr2	193059634	193059664	CAGE_peak_1_at_TMEFF2_5end
chr2	193059670	193059680	CAGE_peak_2_at_TMEFF2_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr2	GH02I192158	192158839	192160504	0.31	[{'connected_gene': 'CAVIN2', 'score': 11.39}, {'connected_gene': 'LOC105373813', 'score': 11.39}, {'connected_gene': 'TMEFF2', 'score': 10.74}, {'connected_gene': 'LOC729254', 'score': 10.73}, {'connected_gene': 'GC02M192181', 'score': 0.29}, {'connected_gene': 'GC02M192080', 'score': 0.22}]
chr2	GH02I192162	192162201	192162751	1.12	[{'connected_gene': 'CAVIN2', 'score': 11.39}, {'connected_gene': 'LOC105373813', 'score': 11.39}, {'connected_gene': 'TMEFF2', 'score': 10.76}, {'connected_gene': 'LOC729254', 'score': 10.73}, {'connected_gene': 'GC02M192181', 'score': 0.31}, {'connected_gene': 'GC02M192080', 'score': 0.21}]
chr2	GH02I191812	191812122	191812600	0.94	[{'connected_gene': 'CAVIN2', 'score': 11.53}, {'connected_gene': 'LOC105373813', 'score': 11.53}, {'connected_gene': 'TMEFF2', 'score': 10.93}, {'connected_gene': 'GC02P191798', 'score': 0.39}, {'connected_gene': 'LOC729254', 'score': 0.37}]
chr2	GH02I192028	192028814	192029204	0.44	[{'connected_gene': 'CAVIN2', 'score': 10.58}, {'connected_gene': 'LOC105373813', 'score': 10.58}, {'connected_gene': 'TMEFF2', 'score': 1.56}, {'connected_gene': 'GC02P192046', 'score': 0.37}, {'connected_gene': 'DNAJB1P1', 'score': 0.11}]
chr2	GH02I191555	191555002	191555600	0.92	[{'connected_gene': 'CAVIN2', 'score': 10.63}, {'connected_gene': 'LOC105373813', 'score': 10.63}, {'connected_gene': 'TMEFF2', 'score': 9.79}, {'connected_gene': 'GC02P191496', 'score': 0.22}, {'connected_gene': 'GC02P191616', 'score': 0.21}]
chr2	GH02I192145	192145723	192147087	0.77	[{'connected_gene': 'CAVIN2', 'score': 11.24}, {'connected_gene': 'LOC105373813', 'score': 11.24}, {'connected_gene': 'TMEFF2', 'score': 10.1}, {'connected_gene': 'GC02M192181', 'score': 0.25}, {'connected_gene': 'GC02M192080', 'score': 0.25}]
chr2	GH02I192148	192148020	192149835	0.71	[{'connected_gene': 'CAVIN2', 'score': 11.17}, {'connected_gene': 'LOC105373813', 'score': 11.17}, {'connected_gene': 'GC02M192181', 'score': 0.26}, {'connected_gene': 'TMEFF2', 'score': 0.25}, {'connected_gene': 'GC02M192080', 'score': 0.25}]
chr2	GH02I192181	192181270	192185179	0.43	[{'connected_gene': 'CAVIN2', 'score': 10.63}, {'connected_gene': 'LOC105373813', 'score': 10.63}, {'connected_gene': 'ENSG00000227542', 'score': 4.11}, {'connected_gene': 'GC02M192181', 'score': 0.44}, {'connected_gene': 'TMEFF2', 'score': 0.39}, {'connected_gene': 'GC02M192080', 'score': 0.18}]
chr2	GH02I192179	192179776	192181042	0.2	[{'connected_gene': 'CAVIN2', 'score': 10.63}, {'connected_gene': 'LOC105373813', 'score': 10.63}, {'connected_gene': 'GC02M192181', 'score': 0.39}, {'connected_gene': 'TMEFF2', 'score': 0.37}, {'connected_gene': 'GC02M192080', 'score': 0.18}]
chr2	GH02I192123	192123935	192124104	0.62	[{'connected_gene': 'CAVIN2', 'score': 9.89}, {'connected_gene': 'LOC105373813', 'score': 9.89}, {'connected_gene': 'GC02M192080', 'score': 0.34}, {'connected_gene': 'GC02M192181', 'score': 0.2}, {'connected_gene': 'TMEFF2', 'score': 0.19}]
chr2	GH02I192025	192025234	192025397	0.22	[{'connected_gene': 'CAVIN2', 'score': 10.26}, {'connected_gene': 'LOC105373813', 'score': 10.26}, {'connected_gene': 'GC02P192046', 'score': 0.34}, {'connected_gene': 'DNAJB1P1', 'score': 0.11}, {'connected_gene': 'TMEFF2', 'score': 0.09}]
chr2	GH02I191950	191950023	191950950	1.15	[{'connected_gene': 'CAVIN2', 'score': 11.0}, {'connected_gene': 'LOC105373813', 'score': 11.0}, {'connected_gene': 'DNAJB1P1', 'score': 0.2}, {'connected_gene': 'GC02P192046', 'score': 0.15}, {'connected_gene': 'TMEFF2', 'score': 0.07}]
chr2	GH02I192072	192072415	192072564	0.2	[{'connected_gene': 'CAVIN2', 'score': 11.21}, {'connected_gene': 'LOC105373813', 'score': 11.21}, {'connected_gene': 'GC02P192090', 'score': 0.37}, {'connected_gene': 'LOC101927366', 'score': 0.31}, {'connected_gene': 'TMEFF2', 'score': 0.13}]
chr2	GH02I192050	192050844	192051244	0.26	[{'connected_gene': 'CAVIN2', 'score': 10.41}, {'connected_gene': 'LOC105373813', 'score': 10.41}, {'connected_gene': 'GC02P192046', 'score': 0.77}, {'connected_gene': 'LOC101927366', 'score': 0.77}, {'connected_gene': 'GC02P192090', 'score': 0.28}, {'connected_gene': 'TMEFF2', 'score': 0.11}]
chr2	GH02I192154	192154839	192156904	0.51	[{'connected_gene': 'LOC729254', 'score': 11.23}, {'connected_gene': 'CAVIN2', 'score': 10.55}, {'connected_gene': 'LOC105373813', 'score': 10.55}, {'connected_gene': 'TMEFF2', 'score': 10.38}, {'connected_gene': 'GC02M192181', 'score': 0.28}, {'connected_gene': 'GC02M192080', 'score': 0.22}]
chr2	GH02I191862	191862972	191863576	0.2	[{'connected_gene': 'TMEFF2', 'score': 10.32}, {'connected_gene': 'CAVIN2', 'score': 0.37}, {'connected_gene': 'LOC105373813', 'score': 0.37}, {'connected_gene': 'DNAJB1P1', 'score': 0.37}]
chr2	GH02I191860	191860401	191862857	0.74	[{'connected_gene': 'TMEFF2', 'score': 10.32}, {'connected_gene': 'CAVIN2', 'score': 0.39}, {'connected_gene': 'LOC105373813', 'score': 0.37}, {'connected_gene': 'DNAJB1P1', 'score': 0.34}]
chr2	GH02I191864	191864180	191868330	1.4	[{'connected_gene': 'TMEFF2', 'score': 10.32}, {'connected_gene': 'CAVIN2', 'score': 0.37}, {'connected_gene': 'LOC105373813', 'score': 0.37}, {'connected_gene': 'DNAJB1P1', 'score': 0.37}]
chr2	GH02I192171	192171035	192175061	0.2	[{'connected_gene': 'TMEFF2', 'score': 12.1}, {'connected_gene': 'CAVIN2', 'score': 10.68}, {'connected_gene': 'LOC105373813', 'score': 10.68}, {'connected_gene': 'GC02M192181', 'score': 0.37}, {'connected_gene': 'GC02M192080', 'score': 0.19}]
chr2	GH02I191869	191869201	191869600	1.22	[{'connected_gene': 'TMEFF2', 'score': 10.32}, {'connected_gene': 'DNAJB1P1', 'score': 0.39}, {'connected_gene': 'CAVIN2', 'score': 0.34}, {'connected_gene': 'LOC105373813', 'score': 0.34}]
chr2	GH02I191974	191974932	191975283	0.24	[{'connected_gene': 'TMEFF2', 'score': 4.45}, {'connected_gene': 'GC02P192046', 'score': 0.19}, {'connected_gene': 'DNAJB1P1', 'score': 0.16}, {'connected_gene': 'LOC105373813', 'score': 0.13}]
chr2	GH02I192017	192017299	192017577	0.22	[{'connected_gene': 'TMEFF2', 'score': 2.14}, {'connected_gene': 'GC02P192046', 'score': 0.31}, {'connected_gene': 'DNAJB1P1', 'score': 0.12}, {'connected_gene': 'LOC105373813', 'score': 0.09}]
chr2	GH02I192257	192257504	192257893	0.24	[{'connected_gene': 'TMEFF2', 'score': 12.16}, {'connected_gene': 'GC02M192363', 'score': 0.14}]
chr2	GH02I192194	192194181	192196314	1.74	[{'connected_gene': 'TMEFF2', 'score': 550.77}, {'connected_gene': 'GC02M192181', 'score': 0.77}]
chr2	GH02I192197	192197724	192199072	0.31	[{'connected_gene': 'TMEFF2', 'score': 0.77}, {'connected_gene': 'GC02M192363', 'score': 0.09}]
chr2	GH02I192266	192266753	192268302	0.72	[{'connected_gene': 'TMEFF2', 'score': 12.1}, {'connected_gene': 'GC02M192363', 'score': 0.15}]
chr2	GH02I192151	192151935	192152164	0.38	[{'connected_gene': 'LOC105373813', 'score': 11.17}, {'connected_gene': 'CAVIN2', 'score': 11.17}, {'connected_gene': 'GC02M192181', 'score': 0.28}, {'connected_gene': 'TMEFF2', 'score': 0.26}, {'connected_gene': 'GC02M192080', 'score': 0.23}]
chr2	GH02I192102	192102184	192102590	0.24	[{'connected_gene': 'GC02M192080', 'score': 550.77}, {'connected_gene': 'CAVIN2', 'score': 10.85}, {'connected_gene': 'LOC105373813', 'score': 10.85}, {'connected_gene': 'TMEFF2', 'score': 8.12}, {'connected_gene': 'GC02M192181', 'score': 0.17}]
chr2	GH02I192186	192186022	192187775	0.2	[{'connected_gene': 'GC02M192181', 'score': 0.77}, {'connected_gene': 'TMEFF2', 'score': 0.44}, {'connected_gene': 'GC02M192080', 'score': 0.17}]
chr2	GH02I191976	191976107	191977147	0.43	[{'connected_gene': 'GC02P192046', 'score': 0.2}, {'connected_gene': 'DNAJB1P1', 'score': 0.16}, {'connected_gene': 'LOC105373813', 'score': 0.12}, {'connected_gene': 'TMEFF2', 'score': 0.08}]
chr2	GH02I192005	192005829	192006079	0.41	[{'connected_gene': 'GC02P192046', 'score': 0.26}, {'connected_gene': 'DNAJB1P1', 'score': 0.13}, {'connected_gene': 'LOC105373813', 'score': 0.1}, {'connected_gene': 'TMEFF2', 'score': 0.09}]
chr2	GH02I192011	192011375	192011524	0.2	[{'connected_gene': 'GC02P192046', 'score': 0.29}, {'connected_gene': 'DNAJB1P1', 'score': 0.13}, {'connected_gene': 'LOC105373813', 'score': 0.1}, {'connected_gene': 'TMEFF2', 'score': 0.09}]