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
ENST00000395601	[[121547984, 121551209], [121554049, 121554240], [121561001, 121561198], [121587325, 121587465], [121644683, 121644891], [121705931, 121706148], [121823512, 121824309], [121825324, 121825513]]	[[121551116, 121551209], [121554049, 121554240], [121561001, 121561198], [121587325, 121587465], [121644683, 121644891], [121705931, 121706148], [121823512, 121824083]]
ENST00000517992	[[121550760, 121551209], [121554049, 121554240], [121561001, 121561198], [121587325, 121587465], [121644683, 121644891], [121705931, 121706148], [121823512, 121824383]]	[[121551116, 121551209], [121554049, 121554240], [121561001, 121561198], [121587325, 121587465], [121644683, 121644891], [121705931, 121706148], [121823512, 121824083]]
ENST00000519177	[[121582498, 121583604], [121587325, 121587465], [121644683, 121644891], [121705931, 121706148], [121823512, 121823803]]	None
ENST00000519298	[[121644849, 121644891], [121667118, 121667273], [121705931, 121706148]]	None
ENST00000520717	[[121823998, 121824309], [121824844, 121825092]]	[[121823998, 121824083]]
NM_021021	[[121547984, 121551209], [121554049, 121554240], [121561001, 121561198], [121587325, 121587465], [121644683, 121644891], [121705931, 121706148], [121823512, 121824309]]	[[121551116, 121551209], [121554049, 121554240], [121561001, 121561198], [121587325, 121587465], [121644683, 121644891], [121705931, 121706148], [121823512, 121824083]]

Promoter

Chrom	Start	End	Description
chr8	121824081	121824115	CAGE_peak_4_at_SNTB1_5end
chr8	121824210	121824222	CAGE_peak_7_at_SNTB1_5end
chr8	121824235	121824275	CAGE_peak_1_at_SNTB1_5end
chr8	121824279	121824328	CAGE_peak_2_at_SNTB1_5end
chr8	121824374	121824391	CAGE_peak_5_at_SNTB1_5end
chr8	121824396	121824462	CAGE_peak_3_at_SNTB1_5end
chr8	121824692	121824766	CAGE_peak_6_at_SNTB1_5end
chr8	121825088	121825094	CAGE_peak_18_at_SNTB1_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr8	GH08I120803	120803201	120804200	1.06	[{'connected_gene': 'TAF2', 'score': 20.07}, {'connected_gene': 'SNTB1', 'score': 1.7}, {'connected_gene': 'ENSG00000272502', 'score': 0.44}, {'connected_gene': 'LOC101927543', 'score': 0.26}]
chr8	GH08I120756	120756002	120758573	0.84	[{'connected_gene': 'SNTB1', 'score': 10.22}, {'connected_gene': 'DSCC1', 'score': 5.7}, {'connected_gene': 'LOC101927543', 'score': 0.77}, {'connected_gene': 'NCAPGP1', 'score': 0.13}]
chr8	GH08I120702	120701520	120703144	0.83	[{'connected_gene': 'SNTB1', 'score': 15.08}, {'connected_gene': 'HAS2', 'score': 4.63}, {'connected_gene': 'LOC101927543', 'score': 0.22}, {'connected_gene': 'NCAPGP1', 'score': 0.21}]
chr8	GH08I120705	120705734	120707965	0.99	[{'connected_gene': 'SNTB1', 'score': 10.28}, {'connected_gene': 'LOC101927543', 'score': 0.23}, {'connected_gene': 'NCAPGP1', 'score': 0.2}]
chr8	GH08I120709	120709560	120711675	1.05	[{'connected_gene': 'SNTB1', 'score': 9.59}, {'connected_gene': 'LOC101927543', 'score': 0.23}, {'connected_gene': 'NCAPGP1', 'score': 0.19}]
chr8	GH08I120706	120704947	120705128	0.58	[{'connected_gene': 'SNTB1', 'score': 10.28}, {'connected_gene': 'LOC101927543', 'score': 0.22}, {'connected_gene': 'NCAPGP1', 'score': 0.2}]
chr8	GH08I120704	120704581	120704730	0.51	[{'connected_gene': 'SNTB1', 'score': 10.28}, {'connected_gene': 'LOC101927543', 'score': 0.22}, {'connected_gene': 'NCAPGP1', 'score': 0.2}]
chr8	GH08I120777	120777161	120782213	1.28	[{'connected_gene': 'SNTB1', 'score': 16.32}, {'connected_gene': 'LOC101927543', 'score': 5.91}, {'connected_gene': 'ENSG00000272502', 'score': 0.29}]
chr8	GH08I120765	120764001	120764150	0.2	[{'connected_gene': 'SNTB1', 'score': 10.53}, {'connected_gene': 'LOC101927543', 'score': 0.77}, {'connected_gene': 'ENSG00000272502', 'score': 0.25}]
chr8	GH08I120769	120769439	120770634	0.2	[{'connected_gene': 'SNTB1', 'score': 10.83}, {'connected_gene': 'LOC101927543', 'score': 0.44}, {'connected_gene': 'ENSG00000272502', 'score': 0.26}]
chr8	GH08I120844	120844667	120848180	1.09	[{'connected_gene': 'SNTB1', 'score': 16.82}, {'connected_gene': 'LOC101927543', 'score': 10.61}, {'connected_gene': 'GC08P120906', 'score': 0.22}]
chr8	GH08I120773	120773150	120775836	0.9	[{'connected_gene': 'SNTB1', 'score': 10.84}, {'connected_gene': 'LOC101927543', 'score': 0.39}, {'connected_gene': 'ENSG00000272502', 'score': 0.28}]
chr8	GH08I120806	120806951	120813090	2.46	[{'connected_gene': 'SNTB1', 'score': 552.16}, {'connected_gene': 'ENSG00000272502', 'score': 0.77}, {'connected_gene': 'LOC101927543', 'score': 0.25}]
chr8	GH08I120764	120764161	120764370	0.2	[{'connected_gene': 'SNTB1', 'score': 10.53}, {'connected_gene': 'LOC101927543', 'score': 0.77}, {'connected_gene': 'ENSG00000272502', 'score': 0.25}]
chr8	GH08I120687	120687353	120689236	0.46	[{'connected_gene': 'SNTB1', 'score': 9.96}, {'connected_gene': 'NCAPGP1', 'score': 0.23}, {'connected_gene': 'LOC101927543', 'score': 0.19}]
chr8	GH08I120690	120690781	120693871	0.51	[{'connected_gene': 'SNTB1', 'score': 15.02}, {'connected_gene': 'NCAPGP1', 'score': 0.23}, {'connected_gene': 'LOC101927543', 'score': 0.2}]
chr8	GH08I120673	120673633	120675292	0.2	[{'connected_gene': 'SNTB1', 'score': 4.73}, {'connected_gene': 'NCAPGP1', 'score': 0.28}, {'connected_gene': 'LOC101927543', 'score': 0.17}]
chr8	GH08I120916	120916067	120918231	0.54	[{'connected_gene': 'SNTB1', 'score': 10.4}, {'connected_gene': 'ENSG00000253619', 'score': 0.77}, {'connected_gene': 'GC08P120906', 'score': 0.39}, {'connected_gene': 'LOC100133147', 'score': 0.08}]
chr8	GH08I120961	120960698	120960803	0.64	[{'connected_gene': 'SNTB1', 'score': 3.17}, {'connected_gene': 'ENSG00000253619', 'score': 0.25}, {'connected_gene': 'GC08P120906', 'score': 0.23}, {'connected_gene': 'LOC100133147', 'score': 0.1}]
chr8	GH08I120915	120915781	120915930	0.2	[{'connected_gene': 'SNTB1', 'score': 10.4}, {'connected_gene': 'ENSG00000253619', 'score': 0.77}, {'connected_gene': 'GC08P120906', 'score': 0.44}, {'connected_gene': 'LOC100133147', 'score': 0.08}]
chr8	GH08I120813	120813142	120816116	1.35	[{'connected_gene': 'SNTB1', 'score': 556.53}, {'connected_gene': 'ENSG00000272502', 'score': 0.77}, {'connected_gene': 'GC08P120906', 'score': 0.16}]
chr8	GH08I120860	120860925	120862465	1.36	[{'connected_gene': 'SNTB1', 'score': 16.9}, {'connected_gene': 'GC08P120906', 'score': 0.26}]
chr8	GH08I120825	120825791	120828690	1.44	[{'connected_gene': 'SNTB1', 'score': 6.2}, {'connected_gene': 'GC08P120906', 'score': 0.18}]
chr8	GH08I120838	120838381	120838530	0.74	[{'connected_gene': 'SNTB1', 'score': 11.6}, {'connected_gene': 'GC08P120906', 'score': 0.2}]
chr8	GH08I120856	120856802	120858271	1.07	[{'connected_gene': 'SNTB1', 'score': 16.22}, {'connected_gene': 'GC08P120906', 'score': 0.25}]
chr8	GH08I120824	120824400	120824801	0.69	[{'connected_gene': 'SNTB1', 'score': 0.39}, {'connected_gene': 'GC08P120906', 'score': 0.18}]
chr8	GH08I120852	120852658	120852836	0.4	[{'connected_gene': 'SNTB1', 'score': 11.81}, {'connected_gene': 'GC08P120906', 'score': 0.23}]
chr8	GH08I120932	120932261	120934410	0.87	[{'connected_gene': 'MRPL13', 'score': 10.19}, {'connected_gene': 'MTBP', 'score': 10.19}, {'connected_gene': 'SNTB1', 'score': 10.14}, {'connected_gene': 'HAS2-AS1', 'score': 6.91}, {'connected_gene': 'ENSG00000253619', 'score': 0.34}, {'connected_gene': 'GC08P120906', 'score': 0.31}, {'connected_gene': 'LOC100133147', 'score': 0.09}]
chr8	GH08I120538	120538501	120538650	0.31	[{'connected_gene': 'MRPL13', 'score': 0.16}, {'connected_gene': 'MTBP', 'score': 0.16}, {'connected_gene': 'NCAPGP1', 'score': 0.15}, {'connected_gene': 'SNTB1', 'score': 0.06}]
chr8	GH08I120597	120597476	120599013	0.52	[{'connected_gene': 'MRPL13', 'score': 10.94}, {'connected_gene': 'MTBP', 'score': 10.94}, {'connected_gene': 'NCAPGP1', 'score': 0.28}, {'connected_gene': 'SNTB1', 'score': 0.08}]
chr8	GH08I120600	120600702	120601378	0.4	[{'connected_gene': 'MRPL13', 'score': 10.94}, {'connected_gene': 'MTBP', 'score': 10.94}, {'connected_gene': 'NCAPGP1', 'score': 0.28}, {'connected_gene': 'SNTB1', 'score': 0.08}]
chr8	GH08I120601	120601761	120601910	0.2	[{'connected_gene': 'MRPL13', 'score': 10.94}, {'connected_gene': 'MTBP', 'score': 10.94}, {'connected_gene': 'NCAPGP1', 'score': 0.28}, {'connected_gene': 'SNTB1', 'score': 0.08}]
chr8	GH08I120868	120868221	120869212	1.08	[{'connected_gene': 'MTBP', 'score': 10.87}, {'connected_gene': 'GC08P120906', 'score': 0.28}, {'connected_gene': 'SNTB1', 'score': 0.22}]
chr8	GH08I120443	120443667	120446279	2.34	[{'connected_gene': 'MTBP', 'score': 574.24}, {'connected_gene': 'MRPL13', 'score': 551.96}, {'connected_gene': 'TAF2', 'score': 41.2}, {'connected_gene': 'SNTB1', 'score': 1.27}, {'connected_gene': 'PIR54850', 'score': 0.05}]
chr8	GH08I120734	120734601	120736142	1.03	[{'connected_gene': 'LOC101927543', 'score': 11.97}, {'connected_gene': 'SNTB1', 'score': 10.59}, {'connected_gene': 'NCAPGP1', 'score': 0.15}]
chr8	GH08I120738	120738933	120739980	0.4	[{'connected_gene': 'LOC101927543', 'score': 0.34}, {'connected_gene': 'SNTB1', 'score': 0.19}, {'connected_gene': 'NCAPGP1', 'score': 0.15}]
chr8	GH08I120740	120740125	120742971	0.51	[{'connected_gene': 'LOC101927543', 'score': 0.37}, {'connected_gene': 'SNTB1', 'score': 0.19}, {'connected_gene': 'NCAPGP1', 'score': 0.15}]
chr8	GH08I120747	120747145	120751132	1.33	[{'connected_gene': 'LOC101927543', 'score': 0.39}, {'connected_gene': 'SNTB1', 'score': 0.21}, {'connected_gene': 'NCAPGP1', 'score': 0.14}]
chr8	GH08I120728	120728824	120733599	1.05	[{'connected_gene': 'LOC101927543', 'score': 12.5}, {'connected_gene': 'SNTB1', 'score': 10.34}, {'connected_gene': 'NCAPGP1', 'score': 0.16}]
chr8	GH08I120724	120724922	120725088	0.45	[{'connected_gene': 'LOC101927543', 'score': 11.79}, {'connected_gene': 'SNTB1', 'score': 10.51}, {'connected_gene': 'NCAPGP1', 'score': 0.17}]
chr8	GH08I120717	120717769	120719642	0.31	[{'connected_gene': 'LOC101927543', 'score': 11.17}, {'connected_gene': 'SNTB1', 'score': 9.97}, {'connected_gene': 'NCAPGP1', 'score': 0.18}]
chr8	GH08I120744	120744939	120746699	1.16	[{'connected_gene': 'LOC101927543', 'score': 0.37}, {'connected_gene': 'SNTB1', 'score': 0.2}, {'connected_gene': 'NCAPGP1', 'score': 0.14}]
chr8	GH08I120784	120784242	120787176	1.53	[{'connected_gene': 'LOC101927543', 'score': 17.92}, {'connected_gene': 'ENSG00000272502', 'score': 0.31}, {'connected_gene': 'SNTB1', 'score': 0.31}]
chr8	GH08I120796	120796621	120796770	0.2	[{'connected_gene': 'LOC101927543', 'score': 11.41}, {'connected_gene': 'ENSG00000272502', 'score': 0.37}, {'connected_gene': 'SNTB1', 'score': 0.37}]
chr8	GH08I120761	120761540	120763170	0.83	[{'connected_gene': 'LOC101927543', 'score': 550.77}, {'connected_gene': 'SNTB1', 'score': 10.52}, {'connected_gene': 'ENSG00000272502', 'score': 0.25}]
chr8	GH08I120714	120714699	120716129	0.38	[{'connected_gene': 'LOC101927543', 'score': 11.85}, {'connected_gene': 'NCAPGP1', 'score': 0.18}, {'connected_gene': 'SNTB1', 'score': 0.15}]
chr8	GH08I120701	120701201	120701400	0.4	[{'connected_gene': 'LOC101927543', 'score': 0.22}, {'connected_gene': 'NCAPGP1', 'score': 0.21}, {'connected_gene': 'SNTB1', 'score': 0.14}]
chr8	GH08I120625	120625601	120625750	0.54	[{'connected_gene': 'NCAPGP1', 'score': 0.39}, {'connected_gene': 'MRPL13', 'score': 0.09}, {'connected_gene': 'SNTB1', 'score': 0.09}]
chr8	GH08I120580	120580521	120580670	0.2	[{'connected_gene': 'NCAPGP1', 'score': 0.22}, {'connected_gene': 'MRPL13', 'score': 0.12}, {'connected_gene': 'SNTB1', 'score': 0.07}]
chr8	GH08I120562	120562641	120562790	0.2	[{'connected_gene': 'NCAPGP1', 'score': 0.18}, {'connected_gene': 'MRPL13', 'score': 0.13}, {'connected_gene': 'SNTB1', 'score': 0.07}]
chr8	GH08I120622	120622001	120622150	0.2	[{'connected_gene': 'NCAPGP1', 'score': 0.37}, {'connected_gene': 'MRPL13', 'score': 0.1}, {'connected_gene': 'SNTB1', 'score': 0.08}]
chr8	GH08I120588	120588723	120594003	0.72	[{'connected_gene': 'NCAPGP1', 'score': 0.25}, {'connected_gene': 'MRPL13', 'score': 0.11}, {'connected_gene': 'SNTB1', 'score': 0.07}]
chr8	GH08I120605	120605781	120605890	0.62	[{'connected_gene': 'NCAPGP1', 'score': 0.29}, {'connected_gene': 'MRPL13', 'score': 0.1}, {'connected_gene': 'SNTB1', 'score': 0.08}]
chr8	GH08I120587	120587961	120588617	0.43	[{'connected_gene': 'NCAPGP1', 'score': 0.25}, {'connected_gene': 'MRPL13', 'score': 0.11}, {'connected_gene': 'SNTB1', 'score': 0.07}]
chr8	GH08I120584	120584584	120586456	0.87	[{'connected_gene': 'NCAPGP1', 'score': 0.23}, {'connected_gene': 'MRPL13', 'score': 0.11}, {'connected_gene': 'SNTB1', 'score': 0.07}]
chr8	GH08I120668	120668441	120669963	0.52	[{'connected_gene': 'NCAPGP1', 'score': 0.29}, {'connected_gene': 'LOC101927543', 'score': 0.16}, {'connected_gene': 'SNTB1', 'score': 0.11}]
chr8	GH08I120653	120653464	120657471	0.66	[{'connected_gene': 'NCAPGP1', 'score': 0.37}, {'connected_gene': 'LOC101927543', 'score': 0.14}, {'connected_gene': 'SNTB1', 'score': 0.1}]
chr8	GH08I120641	120641361	120641510	0.52	[{'connected_gene': 'NCAPGP1', 'score': 0.77}, {'connected_gene': 'LOC101927543', 'score': 0.13}, {'connected_gene': 'SNTB1', 'score': 0.09}]
chr8	GH08I120913	120913161	120913310	0.31	[{'connected_gene': 'ENSG00000253619', 'score': 550.77}, {'connected_gene': 'SNTB1', 'score': 10.2}, {'connected_gene': 'GC08P120906', 'score': 0.44}, {'connected_gene': 'LOC100133147', 'score': 0.08}]
chr8	GH08I120914	120913608	120915475	0.2	[{'connected_gene': 'ENSG00000253619', 'score': 550.77}, {'connected_gene': 'SNTB1', 'score': 10.25}, {'connected_gene': 'GC08P120906', 'score': 0.44}, {'connected_gene': 'LOC100133147', 'score': 0.08}]
chr8	GH08I120906	120906801	120906950	0.2	[{'connected_gene': 'GC08P120906', 'score': 550.77}, {'connected_gene': 'SNTB1', 'score': 10.2}, {'connected_gene': 'ENSG00000253619', 'score': 0.44}]