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
ENST00000558018	[[89441915, 89442763], [89442886, 89443042], [89444781, 89444966], [89448987, 89449132], [89449856, 89450009], [89450425, 89450607], [89453022, 89453154], [89455354, 89455407], [89456477, 89456610]]	[[89455402, 89455407], [89456477, 89456550]]
ENST00000539437	[[89441915, 89442763], [89442886, 89443042], [89444781, 89444966], [89448987, 89449132], [89449856, 89450009], [89450425, 89450607], [89453022, 89453154], [89455354, 89455407], [89456477, 89456610]]	[[89442625, 89442763], [89442886, 89443042], [89444781, 89444966], [89448987, 89449132], [89449856, 89450009], [89450425, 89450607], [89453022, 89453154], [89455354, 89455403]]
ENST00000268151	[[89441943, 89442763], [89444781, 89444966], [89448987, 89449132], [89449856, 89450009], [89450425, 89450607], [89453022, 89453154], [89456477, 89456612]]	[[89442625, 89442763], [89444781, 89444966], [89448987, 89449132], [89449856, 89450009], [89450425, 89450607], [89453022, 89453154], [89456477, 89456550]]
ENST00000268150	[[89441944, 89442763], [89442886, 89443042], [89444781, 89444966], [89448987, 89449132], [89449856, 89450009], [89450425, 89450607], [89453022, 89453154], [89456477, 89456642]]	[[89442625, 89442763], [89442886, 89443042], [89444781, 89444966], [89448987, 89449132], [89449856, 89450009], [89450425, 89450607], [89453022, 89453154], [89456477, 89456550]]
ENST00000566497	[[89441945, 89442388], [89442605, 89442763], [89442886, 89443042], [89444781, 89444966], [89448987, 89449132], [89449856, 89450009], [89450425, 89450607], [89453022, 89453154], [89456477, 89456612]]	[[89442625, 89442763], [89442886, 89443042], [89444781, 89444966], [89448987, 89449132], [89449856, 89450009], [89450425, 89450607], [89453022, 89453154], [89456477, 89456550]]
ENST00000560937	[[89442528, 89442763], [89442886, 89443042], [89444781, 89445191]]	None
ENST00000542878	[[89442545, 89442763], [89442886, 89443042], [89444781, 89444966], [89448987, 89449132], [89449856, 89450009], [89450425, 89450607], [89456477, 89456610]]	[[89442625, 89442763], [89442886, 89443042], [89444781, 89444966], [89448987, 89449132], [89449856, 89450009], [89450425, 89450607], [89456477, 89456550]]
ENST00000558029	[[89444781, 89444902], [89448987, 89449132], [89449856, 89450009], [89450425, 89450607], [89453022, 89453154], [89456477, 89456593]]	[[89444781, 89444902], [89448987, 89449132], [89449856, 89450009], [89450425, 89450607], [89453022, 89453154], [89456477, 89456550]]
ENST00000560553	[[89447020, 89447393], [89447938, 89448013], [89448107, 89448159]]	None
ENST00000559259	[[89448612, 89449132], [89449856, 89449947]]	None
ENST00000559997	[[89448629, 89448809], [89449973, 89450009], [89450425, 89450607], [89456477, 89456610]]	None
ENST00000558352	[[89449293, 89450009], [89450425, 89450607], [89456477, 89456610]]	None
ENST00000559770	[[89449845, 89450009], [89450425, 89450607], [89453022, 89453356]]	None
ENST00000559143	[[89453022, 89453154], [89453262, 89453488]]	None
ENST00000558773	[[89453434, 89453897], [89456477, 89456548]]	None
ENST00000557944	[[89454010, 89454329], [89456477, 89456593]]	None
NM_001310321	[[89441913, 89442763], [89442886, 89443042], [89444781, 89444966], [89448987, 89449132], [89449856, 89450009], [89450425, 89450607], [89453022, 89453154], [89455658, 89455993]]	[[89442625, 89442763], [89442886, 89443042], [89444781, 89444966], [89448987, 89449132], [89449856, 89450009], [89450425, 89450476]]
NM_001310320	[[89441913, 89442763], [89442886, 89443042], [89444781, 89444966], [89448987, 89449132], [89449856, 89450009], [89450425, 89450607], [89453022, 89453154], [89455354, 89455407], [89456477, 89456700]]	[[89442625, 89442763], [89442886, 89443042], [89444781, 89444966], [89448987, 89449132], [89449856, 89450009], [89450425, 89450607], [89453022, 89453154], [89455354, 89455403]]
NM_005928	[[89441913, 89442763], [89442886, 89443042], [89444781, 89444966], [89448987, 89449132], [89449856, 89450009], [89450425, 89450607], [89453022, 89453154], [89456477, 89456700]]	[[89442625, 89442763], [89442886, 89443042], [89444781, 89444966], [89448987, 89449132], [89449856, 89450009], [89450425, 89450607], [89453022, 89453154], [89456477, 89456550]]
NM_001114614	[[89441913, 89442763], [89444781, 89444966], [89448987, 89449132], [89449856, 89450009], [89450425, 89450607], [89453022, 89453154], [89456477, 89456700]]	[[89442625, 89442763], [89444781, 89444966], [89448987, 89449132], [89449856, 89450009], [89450425, 89450607], [89453022, 89453154], [89456477, 89456550]]
NM_001310319	[[89441913, 89442763], [89442886, 89443042], [89444781, 89444966], [89448987, 89449132], [89449856, 89450009], [89450425, 89450607], [89456477, 89456700]]	[[89442625, 89442763], [89442886, 89443042], [89444781, 89444966], [89448987, 89449132], [89449856, 89450009], [89450425, 89450607], [89456477, 89456550]]

Promoter

Chrom	Start	End	Description
chr15	89444827	89444838	CAGE_peak_10_at_MFGE8_5end
chr15	89444857	89444870	CAGE_peak_9_at_MFGE8_5end
chr15	89444877	89444891	CAGE_peak_6_at_MFGE8_5end
chr15	89444937	89444980	CAGE_peak_5_at_MFGE8_5end
chr15	89445466	89445471	CAGE_peak_8_at_MFGE8_5end
chr15	89449904	89449998	CAGE_peak_4_at_MFGE8_5end
chr15	89453066	89453095	CAGE_peak_7_at_MFGE8_5end
chr15	89456602	89456618	CAGE_peak_1_at_MFGE8_5end
chr15	89456630	89456646	CAGE_peak_2_at_MFGE8_5end
chr15	89456657	89456668	CAGE_peak_3_at_MFGE8_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr15	GH15I088903	88903783	88906422	1.3	[{'connected_gene': 'AEN', 'score': 10.05}, {'connected_gene': 'HAPLN3', 'score': 9.95}, {'connected_gene': 'MFGE8', 'score': 9.07}, {'connected_gene': 'GC15P088897', 'score': 0.44}, {'connected_gene': 'GC15P088896', 'score': 0.44}]
chr15	GH15I088938	88938765	88939782	0.96	[{'connected_gene': 'POLG', 'score': 12.71}, {'connected_gene': 'FANCI', 'score': 11.4}, {'connected_gene': 'LOC100631255', 'score': 11.23}, {'connected_gene': 'MFGE8', 'score': 7.96}, {'connected_gene': 'ENSG00000259350', 'score': 0.39}, {'connected_gene': 'GC15P088897', 'score': 0.26}]
chr15	GH15I088878	88878830	88878999	0.63	[{'connected_gene': 'MFGE8', 'score': 11.13}, {'connected_gene': 'AEN', 'score': 9.72}, {'connected_gene': 'ENSG00000173867', 'score': 9.12}, {'connected_gene': 'MRPL46', 'score': 9.11}, {'connected_gene': 'MRPS11', 'score': 9.11}, {'connected_gene': 'GC15M088846', 'score': 0.44}, {'connected_gene': 'GC15P088887', 'score': 0.44}, {'connected_gene': 'HAPLN3', 'score': 0.37}]
chr15	GH15I088908	88908647	88914200	2.18	[{'connected_gene': 'MFGE8', 'score': 566.15}, {'connected_gene': 'POLG', 'score': 10.37}, {'connected_gene': 'HAPLN3', 'score': 5.27}, {'connected_gene': 'GC15P088897', 'score': 0.39}, {'connected_gene': 'GC15P088896', 'score': 0.39}]
chr15	GH15I088917	88917722	88921581	1.39	[{'connected_gene': 'MFGE8', 'score': 15.37}, {'connected_gene': 'ENSG00000173867', 'score': 11.41}, {'connected_gene': 'POLG', 'score': 9.76}, {'connected_gene': 'GC15P088897', 'score': 0.34}, {'connected_gene': 'ENSG00000259350', 'score': 0.29}]
chr15	GH15I088974	88974330	88974972	0.49	[{'connected_gene': 'MFGE8', 'score': 4.54}, {'connected_gene': 'KRT18P47', 'score': 0.39}, {'connected_gene': 'LOC100129942', 'score': 0.37}]
chr15	GH15I088972	88972791	88973099	0.43	[{'connected_gene': 'MFGE8', 'score': 7.45}, {'connected_gene': 'KRT18P47', 'score': 0.39}, {'connected_gene': 'LOC100129942', 'score': 0.37}]
chr15	GH15I089001	89001572	89004879	1.35	[{'connected_gene': 'MFGE8', 'score': 17.18}, {'connected_gene': 'HAPLN3', 'score': 11.39}, {'connected_gene': 'RLBP1', 'score': 9.64}, {'connected_gene': 'AEN', 'score': 9.63}, {'connected_gene': 'LOC100129942', 'score': 0.39}, {'connected_gene': 'GC15P089023', 'score': 0.37}]
chr15	GH15I088884	88884230	88885296	0.77	[{'connected_gene': 'MFGE8', 'score': 6.77}, {'connected_gene': 'HAPLN3', 'score': 5.73}, {'connected_gene': 'GC15P088887', 'score': 0.77}, {'connected_gene': 'GC15M088846', 'score': 0.39}]
chr15	GH15I088902	88902874	88903267	0.4	[{'connected_gene': 'MFGE8', 'score': 7.19}, {'connected_gene': 'HAPLN3', 'score': 5.31}, {'connected_gene': 'GC15P088897', 'score': 0.44}, {'connected_gene': 'GC15P088896', 'score': 0.44}]
chr15	GH15I088900	88900284	88901455	0.85	[{'connected_gene': 'MFGE8', 'score': 7.42}, {'connected_gene': 'GC15P088897', 'score': 0.77}, {'connected_gene': 'GC15P088896', 'score': 0.77}]
chr15	GH15I088932	88931851	88933411	0.8	[{'connected_gene': 'MFGE8', 'score': 8.67}, {'connected_gene': 'ENSG00000259350', 'score': 0.34}, {'connected_gene': 'GC15P088897', 'score': 0.28}]
chr15	GH15I088933	88933523	88934270	0.2	[{'connected_gene': 'MFGE8', 'score': 15.62}, {'connected_gene': 'ENSG00000259350', 'score': 0.37}, {'connected_gene': 'GC15P088897', 'score': 0.28}]
chr15	GH15I089016	89016337	89018938	1.39	[{'connected_gene': 'HAPLN3', 'score': 11.87}, {'connected_gene': 'RLBP1', 'score': 10.69}, {'connected_gene': 'AEN', 'score': 10.2}, {'connected_gene': 'ENSG00000173867', 'score': 5.02}, {'connected_gene': 'MFGE8', 'score': 4.49}, {'connected_gene': 'GC15P089023', 'score': 0.44}, {'connected_gene': 'LOC100129942', 'score': 0.31}]
chr15	GH15I088931	88931211	88931803	0.38	[{'connected_gene': 'HAPLN3', 'score': 11.28}, {'connected_gene': 'RLBP1', 'score': 9.77}, {'connected_gene': 'MFGE8', 'score': 7.17}, {'connected_gene': 'ENSG00000259350', 'score': 0.34}, {'connected_gene': 'GC15P088897', 'score': 0.28}]
chr15	GH15I088896	88896264	88898362	1.22	[{'connected_gene': 'HAPLN3', 'score': 559.79}, {'connected_gene': 'GC15P088897', 'score': 550.77}, {'connected_gene': 'GC15P088896', 'score': 550.77}, {'connected_gene': 'POLG', 'score': 16.68}, {'connected_gene': 'LOC100631255', 'score': 12.19}, {'connected_gene': 'MFGE8', 'score': 0.37}]
chr15	GH15I088981	88981402	88984484	1.21	[{'connected_gene': 'HAPLN3', 'score': 10.63}, {'connected_gene': 'MFGE8', 'score': 7.53}, {'connected_gene': 'LOC100129942', 'score': 0.44}, {'connected_gene': 'KRT18P47', 'score': 0.34}]
chr15	GH15I088898	88898438	88900146	0.52	[{'connected_gene': 'HAPLN3', 'score': 10.63}, {'connected_gene': 'MFGE8', 'score': 8.81}, {'connected_gene': 'GC15P088897', 'score': 0.77}, {'connected_gene': 'GC15P088896', 'score': 0.77}]
chr15	GH15I088894	88894800	88896179	2	[{'connected_gene': 'HAPLN3', 'score': 560.31}, {'connected_gene': 'GC15P088897', 'score': 550.77}, {'connected_gene': 'GC15P088896', 'score': 550.77}, {'connected_gene': 'MFGE8', 'score': 5.75}, {'connected_gene': 'GC15P088887', 'score': 0.44}]
chr15	GH15I089892	89892772	89895042	2.15	[{'connected_gene': 'AP3S2', 'score': 564.22}, {'connected_gene': 'POLG', 'score': 65.57}, {'connected_gene': 'ENSG00000259314', 'score': 42.43}, {'connected_gene': 'LOC100631255', 'score': 35.45}, {'connected_gene': 'NIFKP5', 'score': 29.49}, {'connected_gene': 'FANCI', 'score': 24.76}, {'connected_gene': 'ENSG00000259212', 'score': 22.82}, {'connected_gene': 'RPL36AP43', 'score': 22.75}, {'connected_gene': 'KIF7', 'score': 22.7}, {'connected_gene': 'ARPIN', 'score': 21.28}, {'connected_gene': 'WDR93', 'score': 13.56}, {'connected_gene': 'CRTC3', 'score': 12.9}, {'connected_gene': 'TICRR', 'score': 10.11}, {'connected_gene': 'MFGE8', 'score': 10.1}, {'connected_gene': 'GC15M089889', 'score': 0.44}, {'connected_gene': 'PIR40995', 'score': 0.44}, {'connected_gene': 'C15orf38-AP3S2', 'score': 0.37}]
chr15	GH15I088984	88984998	88995812	1.37	[{'connected_gene': 'LOC100129942', 'score': 550.77}, {'connected_gene': 'MFGE8', 'score': 20.9}, {'connected_gene': 'HAPLN3', 'score': 11.48}, {'connected_gene': 'RLBP1', 'score': 10.41}, {'connected_gene': 'GC15P089023', 'score': 0.29}]
chr15	GH15I088886	88886822	88887697	0.31	[{'connected_gene': 'GC15P088887', 'score': 550.77}, {'connected_gene': 'MFGE8', 'score': 6.65}, {'connected_gene': 'HAPLN3', 'score': 0.44}, {'connected_gene': 'GC15M088846', 'score': 0.37}]