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
ENST00000546159	[[183898795, 183899423], [183909714, 183909921], [183913329, 183913457], [183914565, 183914698], [183920140, 183920247], [183923895, 183923972], [183933034, 183933154], [183938402, 183938607], [183942749, 183942884], [183944230, 183944348], [183947543, 183947654], [184006228, 184006611]]	[[183899362, 183899423], [183909714, 183909921], [183913329, 183913457], [183914565, 183914698], [183920140, 183920247], [183923895, 183923972], [183933034, 183933154], [183938402, 183938607], [183942749, 183942884], [183944230, 183944348], [183947543, 183947654], [184006228, 184006491]]
ENST00000486375	[[183898987, 183899423], [183909714, 183909865]]	None
ENST00000367521	[[183904970, 183908171], [183909714, 183909921], [183913329, 183913457], [183914565, 183915752]]	[[183907894, 183908171], [183909714, 183909921], [183913329, 183913457], [183914565, 183914658]]
ENST00000361927	[[183904970, 183908171], [183909714, 183909921], [183913329, 183913457], [183914565, 183914698], [183920140, 183920247], [183923895, 183923972], [183933034, 183933154], [183938402, 183938607], [183942749, 183942884], [183944230, 183944348], [183947543, 183947654], [184006228, 184006863]]	[[183907894, 183908171], [183909714, 183909921], [183913329, 183913457], [183914565, 183914698], [183920140, 183920247], [183923895, 183923972], [183933034, 183933154], [183938402, 183938607], [183942749, 183942884], [183944230, 183944348], [183947543, 183947654], [184006228, 184006491]]
ENST00000367520	[[183907098, 183908171], [183909714, 183909921], [183913329, 183913457], [183914565, 183914698], [183920140, 183920247], [183923895, 183923972], [183933034, 183933634]]	[[183907894, 183908171], [183909714, 183909921], [183913329, 183913457], [183914565, 183914698], [183920140, 183920247], [183923895, 183923972], [183933034, 183933197]]
NM_001303420	[[183898795, 183899423], [183909714, 183909921], [183913329, 183913457], [183914565, 183914698], [183920140, 183920247], [183923895, 183923972], [183933034, 183933154], [183938402, 183938607], [183942749, 183942884], [183944230, 183944348], [183947543, 183947654], [184006228, 184006904]]	[[183899362, 183899423], [183909714, 183909921], [183913329, 183913457], [183914565, 183914698], [183920140, 183920247], [183923895, 183923972], [183933034, 183933154], [183938402, 183938607], [183942749, 183942884], [183944230, 183944348], [183947543, 183947654], [184006228, 184006491]]
NM_015101	[[183904965, 183908171], [183909714, 183909921], [183913329, 183913457], [183914565, 183914698], [183920140, 183920247], [183923895, 183923972], [183933034, 183933154], [183938402, 183938607], [183942749, 183942884], [183944230, 183944348], [183947543, 183947654], [184006228, 184006904]]	[[183907894, 183908171], [183909714, 183909921], [183913329, 183913457], [183914565, 183914698], [183920140, 183920247], [183923895, 183923972], [183933034, 183933154], [183938402, 183938607], [183942749, 183942884], [183944230, 183944348], [183947543, 183947654], [184006228, 184006491]]
NM_001303421	[[183904965, 183908171], [183909714, 183909921], [183913329, 183913457], [183914565, 183914698], [183920140, 183920247], [183923895, 183923972], [183933034, 183933154], [183938402, 183938607], [183942749, 183942884], [183944230, 183944348], [183947543, 183947654], [184006714, 184006904]]	[[183907894, 183908171], [183909714, 183909921], [183913329, 183913457], [183914565, 183914698], [183920140, 183920247], [183923895, 183923972], [183933034, 183933154], [183938402, 183938607], [183942749, 183942884], [183944230, 183944348], [183947543, 183947557]]

Promoter

Chrom	Start	End	Description
chr1	184006627	184006641	CAGE_peak_2_at_GLT25D2_5end
chr1	184006691	184006711	CAGE_peak_3_at_GLT25D2_5end
chr1	184006796	184006809	CAGE_peak_5_at_GLT25D2_5end
chr1	184006829	184006911	CAGE_peak_1_at_GLT25D2_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr1	GH01I184415	184415712	184420725	1.33	[{'connected_gene': 'C1orf21', 'score': 16.97}, {'connected_gene': 'COLGALT2', 'score': 4.14}, {'connected_gene': 'ENSG00000230470', 'score': 0.44}, {'connected_gene': 'GC01P184462', 'score': 0.26}]
chr1	GH01I183867	183867527	183867821	0.57	[{'connected_gene': 'RGL1', 'score': 4.42}, {'connected_gene': 'COLGALT2', 'score': 1.83}, {'connected_gene': 'GC01M183931', 'score': 0.2}, {'connected_gene': 'ENSG00000227554', 'score': 0.14}]
chr1	GH01I183982	183982337	183982510	0.96	[{'connected_gene': 'NCF2', 'score': 2.55}, {'connected_gene': 'GC01P183964', 'score': 0.37}, {'connected_gene': 'COLGALT2', 'score': 0.2}]
chr1	GH01I183875	183875802	183877873	0.99	[{'connected_gene': 'APOBEC4', 'score': 10.24}, {'connected_gene': 'ENSG00000227554', 'score': 9.97}, {'connected_gene': 'RGL1', 'score': 5.46}, {'connected_gene': 'COLGALT2', 'score': 5.08}, {'connected_gene': 'NMNAT2', 'score': 2.58}, {'connected_gene': 'GC01M183931', 'score': 0.22}]
chr1	GH01I183928	183928311	183930416	0.2	[{'connected_gene': 'APOBEC4', 'score': 10.49}, {'connected_gene': 'NCF2', 'score': 4.51}, {'connected_gene': 'GC01M183931', 'score': 0.77}, {'connected_gene': 'COLGALT2', 'score': 0.13}, {'connected_gene': 'ENSG00000227554', 'score': 0.09}, {'connected_gene': 'RGL1', 'score': 0.06}]
chr1	GH01I183891	183891287	183892800	1.46	[{'connected_gene': 'APOBEC4', 'score': 10.9}, {'connected_gene': 'NCF2', 'score': 9.37}, {'connected_gene': 'COLGALT2', 'score': 6.18}, {'connected_gene': 'ARPC5', 'score': 2.48}, {'connected_gene': 'GC01M183931', 'score': 0.26}, {'connected_gene': 'ENSG00000227554', 'score': 0.12}, {'connected_gene': 'RGL1', 'score': 0.07}]
chr1	GH01I183916	183916953	183924141	0.57	[{'connected_gene': 'APOBEC4', 'score': 11.28}, {'connected_gene': 'COLGALT2', 'score': 5.22}, {'connected_gene': 'GC01M183931', 'score': 0.39}, {'connected_gene': 'ENSG00000227554', 'score': 0.1}, {'connected_gene': 'RGL1', 'score': 0.06}]
chr1	GH01I183901	183901344	183903603	0.63	[{'connected_gene': 'APOBEC4', 'score': 10.9}, {'connected_gene': 'COLGALT2', 'score': 6.23}, {'connected_gene': 'GC01M183931', 'score': 0.29}, {'connected_gene': 'ENSG00000227554', 'score': 0.11}, {'connected_gene': 'RGL1', 'score': 0.06}]
chr1	GH01I183908	183908508	183908817	0.58	[{'connected_gene': 'APOBEC4', 'score': 11.48}, {'connected_gene': 'COLGALT2', 'score': 9.98}, {'connected_gene': 'GC01M183931', 'score': 0.31}, {'connected_gene': 'ENSG00000227554', 'score': 0.1}, {'connected_gene': 'RGL1', 'score': 0.06}]
chr1	GH01I183913	183913593	183914671	0.31	[{'connected_gene': 'APOBEC4', 'score': 11.47}, {'connected_gene': 'COLGALT2', 'score': 9.99}, {'connected_gene': 'GC01M183931', 'score': 0.34}, {'connected_gene': 'ENSG00000227554', 'score': 0.1}, {'connected_gene': 'RGL1', 'score': 0.06}]
chr1	GH01I183909	183908161	183908481	0.72	[{'connected_gene': 'APOBEC4', 'score': 11.48}, {'connected_gene': 'COLGALT2', 'score': 9.98}, {'connected_gene': 'NCF2', 'score': 6.07}, {'connected_gene': 'ARPC5', 'score': 1.74}, {'connected_gene': 'GC01M183931', 'score': 0.31}, {'connected_gene': 'ENSG00000227554', 'score': 0.1}, {'connected_gene': 'RGL1', 'score': 0.06}]
chr1	GH01I183930	183930899	183931773	0.2	[{'connected_gene': 'APOBEC4', 'score': 10.49}, {'connected_gene': 'COLGALT2', 'score': 5.57}, {'connected_gene': 'GC01M183931', 'score': 0.77}, {'connected_gene': 'ENSG00000227554', 'score': 0.1}]
chr1	GH01I183996	183996070	183996825	1.07	[{'connected_gene': 'APOBEC4', 'score': 9.38}, {'connected_gene': 'COLGALT2', 'score': 8.69}, {'connected_gene': 'ENSG00000271387', 'score': 4.2}, {'connected_gene': 'GC01P183964', 'score': 0.29}]
chr1	GH01I183993	183993247	183993396	1.03	[{'connected_gene': 'APOBEC4', 'score': 9.38}, {'connected_gene': 'GC01P183964', 'score': 0.31}, {'connected_gene': 'COLGALT2', 'score': 0.22}]
chr1	GH01I183967	183967539	183967691	0.54	[{'connected_gene': 'APOBEC4', 'score': 19.72}, {'connected_gene': 'COLGALT2', 'score': 10.27}, {'connected_gene': 'GC01P183964', 'score': 0.77}]
chr1	GH01I184030	184030069	184034642	0.99	[{'connected_gene': 'APOBEC4', 'score': 9.66}, {'connected_gene': 'TSEN15', 'score': 6.45}, {'connected_gene': 'COLGALT2', 'score': 5.36}, {'connected_gene': 'GC01P183964', 'score': 0.2}]
chr1	GH01I183888	183885894	183886212	0.55	[{'connected_gene': 'COLGALT2', 'score': 2.92}, {'connected_gene': 'RGL1', 'score': 2.13}, {'connected_gene': 'GC01M183931', 'score': 0.25}, {'connected_gene': 'ENSG00000227554', 'score': 0.12}]
chr1	GH01I183925	183925662	183927791	0.82	[{'connected_gene': 'COLGALT2', 'score': 5.67}, {'connected_gene': 'GC01M183931', 'score': 0.44}, {'connected_gene': 'ENSG00000227554', 'score': 0.09}, {'connected_gene': 'RGL1', 'score': 0.06}]
chr1	GH01I183911	183911086	183912050	1.29	[{'connected_gene': 'COLGALT2', 'score': 16.06}, {'connected_gene': 'NCF2', 'score': 13.34}, {'connected_gene': 'APOBEC4', 'score': 11.48}, {'connected_gene': 'ARPC5', 'score': 3.34}, {'connected_gene': 'GC01M183931', 'score': 0.34}, {'connected_gene': 'ENSG00000227554', 'score': 0.1}, {'connected_gene': 'RGL1', 'score': 0.06}]
chr1	GH01I183970	183970744	183972083	0.31	[{'connected_gene': 'COLGALT2', 'score': 35.78}, {'connected_gene': 'NCF2', 'score': 4.31}, {'connected_gene': 'GC01P183964', 'score': 0.44}]
chr1	GH01I183997	183997530	183998775	0.46	[{'connected_gene': 'COLGALT2', 'score': 31.26}, {'connected_gene': 'APOBEC4', 'score': 9.59}, {'connected_gene': 'TSEN15', 'score': 5.23}, {'connected_gene': 'ENSG00000271387', 'score': 4.23}, {'connected_gene': 'GC01P183964', 'score': 0.29}]
chr1	GH01I184036	184036008	184038267	2.5	[{'connected_gene': 'COLGALT2', 'score': 568.33}, {'connected_gene': 'TSEN15', 'score': 7.81}, {'connected_gene': 'RGL1', 'score': 2.97}, {'connected_gene': 'GC01P183964', 'score': 0.19}]
chr1	GH01I183955	183955643	183958542	1.49	[{'connected_gene': 'COLGALT2', 'score': 11.92}, {'connected_gene': 'TSEN15', 'score': 10.28}, {'connected_gene': 'GC01M183940', 'score': 0.44}, {'connected_gene': 'GC01P183964', 'score': 0.44}]
chr1	GH01I184010	184010132	184014461	0.31	[{'connected_gene': 'COLGALT2', 'score': 31.19}, {'connected_gene': 'TSEN15', 'score': 19.21}, {'connected_gene': 'GC01P183964', 'score': 0.25}]
chr1	GH01I184053	184053401	184053800	0.43	[{'connected_gene': 'COLGALT2', 'score': 550.77}, {'connected_gene': 'TSEN15', 'score': 550.77}, {'connected_gene': 'GC01M184052', 'score': 0.34}]
chr1	GH01I183990	183990324	183991058	0.52	[{'connected_gene': 'COLGALT2', 'score': 8.24}, {'connected_gene': 'ENSG00000271387', 'score': 4.14}, {'connected_gene': 'GC01P183964', 'score': 0.31}]
chr1	GH01I183988	183988614	183989678	1.33	[{'connected_gene': 'COLGALT2', 'score': 8.86}, {'connected_gene': 'GC01P183964', 'score': 0.34}]
chr1	GH01I184027	184027537	184028704	0.58	[{'connected_gene': 'COLGALT2', 'score': 5.09}, {'connected_gene': 'GC01P183964', 'score': 0.21}]
chr1	GH01I184004	184004199	184005976	0.31	[{'connected_gene': 'COLGALT2', 'score': 19.36}, {'connected_gene': 'GC01P183964', 'score': 0.26}]
chr1	GH01I184001	184001829	184003163	1.22	[{'connected_gene': 'COLGALT2', 'score': 15.76}, {'connected_gene': 'GC01P183964', 'score': 0.28}]
chr1	GH01I184017	184017168	184018172	0.38	[{'connected_gene': 'COLGALT2', 'score': 16.66}, {'connected_gene': 'GC01P183964', 'score': 0.23}]
chr1	GH01I183980	183980099	183981246	0.54	[{'connected_gene': 'COLGALT2', 'score': 8.91}, {'connected_gene': 'GC01P183964', 'score': 0.37}]
chr1	GH01I183977	183977561	183979786	0.56	[{'connected_gene': 'COLGALT2', 'score': 9.39}, {'connected_gene': 'GC01P183964', 'score': 0.39}]
chr1	GH01I184018	184018625	184020245	0.49	[{'connected_gene': 'TSEN15', 'score': 6.57}, {'connected_gene': 'COLGALT2', 'score': 5.22}, {'connected_gene': 'RGL1', 'score': 4.48}, {'connected_gene': 'GC01P183964', 'score': 0.22}]
chr1	GH01I184050	184050440	184053087	2.1	[{'connected_gene': 'TSEN15', 'score': 558.53}, {'connected_gene': 'COLGALT2', 'score': 550.77}, {'connected_gene': 'LAMC1-AS1', 'score': 20.2}, {'connected_gene': 'RNF2', 'score': 17.87}, {'connected_gene': 'ENSG00000271387', 'score': 11.92}, {'connected_gene': 'SMG7', 'score': 10.4}, {'connected_gene': 'LAMC2', 'score': 10.18}, {'connected_gene': 'GC01M184052', 'score': 0.31}]
chr1	GH01I183951	183951880	183954365	0.38	[{'connected_gene': 'TSEN15', 'score': 10.78}, {'connected_gene': 'COLGALT2', 'score': 10.63}, {'connected_gene': 'GC01M183940', 'score': 0.77}, {'connected_gene': 'GC01P183964', 'score': 0.39}]
chr1	GH01I183945	183945166	183946151	0.92	[{'connected_gene': 'TSEN15', 'score': 10.77}, {'connected_gene': 'COLGALT2', 'score': 10.62}, {'connected_gene': 'GC01M183940', 'score': 0.77}, {'connected_gene': 'GC01M183931', 'score': 0.39}]
chr1	GH01I184040	184040706	184042199	0.31	[{'connected_gene': 'TSEN15', 'score': 6.65}, {'connected_gene': 'COLGALT2', 'score': 0.39}, {'connected_gene': 'GC01P183964', 'score': 0.18}]
chr1	GH01I184006	184006589	184007565	0.2	[{'connected_gene': 'TSEN15', 'score': 5.19}, {'connected_gene': 'COLGALT2', 'score': 4.86}, {'connected_gene': 'GC01P183964', 'score': 0.26}]
chr1	GH01I184028	184028913	184029984	0.69	[{'connected_gene': 'TSEN15', 'score': 4.62}, {'connected_gene': 'COLGALT2', 'score': 0.34}, {'connected_gene': 'GC01P183964', 'score': 0.2}]
chr1	GH01I184024	184024716	184026036	1.01	[{'connected_gene': 'TSEN15', 'score': 4.92}, {'connected_gene': 'COLGALT2', 'score': 0.31}, {'connected_gene': 'GC01P183964', 'score': 0.21}]
chr1	GH01I183985	183985575	183986152	0.2	[{'connected_gene': 'TSEN15', 'score': 5.48}, {'connected_gene': 'GC01P183964', 'score': 0.34}, {'connected_gene': 'COLGALT2', 'score': 0.2}]
chr1	GH01I184021	184021341	184023528	0.74	[{'connected_gene': 'TSEN15', 'score': 6.69}, {'connected_gene': 'COLGALT2', 'score': 0.31}, {'connected_gene': 'GC01P183964', 'score': 0.22}]
chr1	GH01I183984	183984608	183985007	0.38	[{'connected_gene': 'LAMC1-AS1', 'score': 12.71}, {'connected_gene': 'EDEM3', 'score': 9.67}, {'connected_gene': 'TSEN15', 'score': 5.48}, {'connected_gene': 'GC01P183964', 'score': 0.34}, {'connected_gene': 'COLGALT2', 'score': 0.2}]
chr1	GH01I184407	184407874	184409220	1.19	[{'connected_gene': 'ENSG00000230470', 'score': 550.77}, {'connected_gene': 'C1orf21', 'score': 11.56}, {'connected_gene': 'COLGALT2', 'score': 4.69}, {'connected_gene': 'GC01P184462', 'score': 0.23}]
chr1	GH01I183931	183931814	183933350	0.71	[{'connected_gene': 'GC01M183931', 'score': 550.77}, {'connected_gene': 'APOBEC4', 'score': 10.77}, {'connected_gene': 'COLGALT2', 'score': 5.61}, {'connected_gene': 'ENSG00000227554', 'score': 0.1}]
chr1	GH01I183938	183938203	183942180	0.38	[{'connected_gene': 'ENSG00000227554', 'score': 10.0}, {'connected_gene': 'COLGALT2', 'score': 4.78}, {'connected_gene': 'RGL1', 'score': 3.98}, {'connected_gene': 'GC01M183931', 'score': 0.44}, {'connected_gene': 'GC01M183940', 'score': 0.39}]
chr1	GH01I183962	183962432	183963733	0.31	[{'connected_gene': 'GC01P183964', 'score': 550.77}, {'connected_gene': 'COLGALT2', 'score': 14.91}, {'connected_gene': 'APOBEC4', 'score': 10.03}, {'connected_gene': 'GC01M183940', 'score': 0.39}]
chr1	GH01I183937	183937707	183937856	0.4	[{'connected_gene': 'ENSG00000227554', 'score': 10.0}, {'connected_gene': 'COLGALT2', 'score': 5.48}, {'connected_gene': 'GC01M183931', 'score': 0.77}, {'connected_gene': 'GC01M183940', 'score': 0.39}]
chr1	GH01I183968	183968487	183968636	0.4	[{'connected_gene': 'GC01P183964', 'score': 0.77}, {'connected_gene': 'COLGALT2', 'score': 0.18}]
chr1	GH01I183942	183942586	183943845	1.3	[{'connected_gene': 'ENSG00000227554', 'score': 9.8}, {'connected_gene': 'GC01M183940', 'score': 0.44}, {'connected_gene': 'GC01M183931', 'score': 0.44}, {'connected_gene': 'COLGALT2', 'score': 0.14}]