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
ENST00000324616	[[40019984, 40020161], [40034756, 40034796], [40037580, 40037719], [40040130, 40040263], [40040641, 40040690], [40041593, 40041779], [40044040, 40044156], [40076412, 40076942], [40077216, 40077286], [40078668, 40078729], [40085850, 40085914], [40110557, 40110640], [40114588, 40115716]]	[[40020138, 40020161], [40034756, 40034796], [40037580, 40037719], [40040130, 40040263], [40040641, 40040690], [40041593, 40041779], [40044040, 40044156], [40076412, 40076942], [40077216, 40077286], [40078668, 40078729], [40085850, 40085914], [40110557, 40110640], [40114588, 40115053]]
ENST00000468200	[[40020019, 40020161], [40034756, 40034796], [40040130, 40040263], [40040641, 40040690], [40041593, 40041779], [40044040, 40044156], [40076412, 40076942], [40077216, 40077286], [40077922, 40078114], [40078668, 40078729], [40085850, 40085914], [40110557, 40110640], [40130511, 40130701], [40139661, 40139848], [40148057, 40148134], [40158541, 40158611], [40182389, 40182470], [40196061, 40196184], [40301435, 40302102]]	[[40040159, 40040263], [40040641, 40040690], [40041593, 40041779], [40044040, 40044156], [40076412, 40076942], [40077216, 40077286], [40077922, 40078052]]
ENST00000405531	[[40019968, 40020161], [40034756, 40034796], [40037580, 40037719], [40040130, 40040263], [40040641, 40040690], [40041593, 40041779], [40044040, 40044156], [40076412, 40076942], [40077216, 40077286], [40078668, 40078729], [40085850, 40085989]]	[[40020138, 40020161], [40034756, 40034796], [40037580, 40037719], [40040130, 40040263], [40040641, 40040690], [40041593, 40041779], [40044040, 40044156], [40076412, 40076942], [40077216, 40077286], [40078668, 40078729], [40085850, 40085937]]
ENST00000398716	[[40019971, 40020161], [40034756, 40034796], [40037580, 40037719], [40040130, 40040263], [40040641, 40040690], [40041593, 40041779], [40044040, 40044156], [40076412, 40076942], [40077216, 40077286], [40077922, 40078052]]	[[40040159, 40040263], [40040641, 40040690], [40041593, 40041779], [40044040, 40044156], [40076412, 40076942], [40077216, 40077286], [40077922, 40078052]]
NM_001031748	[[40019968, 40020161], [40034756, 40034796], [40037580, 40037719], [40040130, 40040263], [40040641, 40040690], [40041593, 40041779], [40044040, 40044156], [40076412, 40076942], [40077216, 40077286], [40078668, 40078729], [40085850, 40085914], [40110557, 40110640], [40114588, 40115716]]	[[40020138, 40020161], [40034756, 40034796], [40037580, 40037719], [40040130, 40040263], [40040641, 40040690], [40041593, 40041779], [40044040, 40044156], [40076412, 40076942], [40077216, 40077286], [40078668, 40078729], [40085850, 40085914], [40110557, 40110640], [40114588, 40115053]]
NR_135051	[[40019968, 40020161], [40034756, 40034796], [40040130, 40040263], [40040641, 40040690], [40041593, 40041779], [40044040, 40044156], [40076412, 40076942], [40077216, 40077286], [40077922, 40078114], [40078668, 40078729], [40085850, 40085914], [40110557, 40110640], [40130511, 40130701], [40139661, 40139848], [40148057, 40148134], [40158541, 40158611], [40182389, 40182470], [40196061, 40196184], [40301435, 40302102]]	None
NM_001319247	[[40019968, 40020161], [40034756, 40034796], [40037580, 40037719], [40040130, 40040263], [40040641, 40040690], [40041593, 40041779], [40044040, 40044156], [40076412, 40076942], [40077216, 40077286], [40078668, 40078729], [40085850, 40085989]]	[[40020138, 40020161], [40034756, 40034796], [40037580, 40037719], [40040130, 40040263], [40040641, 40040690], [40041593, 40041779], [40044040, 40044156], [40076412, 40076942], [40077216, 40077286], [40078668, 40078729], [40085850, 40085937]]

Promoter

Chrom	Start	End	Description
chr12	40019980	40020014	CAGE_peak_1_at_C12orf40_5end
chr12	40020016	40020021	CAGE_peak_2_at_C12orf40_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr12	GH12I039579	39579182	39584064	0.62	[{'connected_gene': 'KIF21A', 'score': 8.96}, {'connected_gene': 'ENSG00000270273', 'score': 0.26}, {'connected_gene': 'C12orf40', 'score': 0.26}, {'connected_gene': 'ABCD2', 'score': 0.2}, {'connected_gene': 'GC12P039462', 'score': 0.13}]
chr12	GH12I039831	39831374	39832636	0.69	[{'connected_gene': 'KIF21A', 'score': 7.62}, {'connected_gene': 'ENSG00000199571', 'score': 0.39}, {'connected_gene': 'GC12M039820', 'score': 0.39}, {'connected_gene': 'PIR55346', 'score': 0.34}, {'connected_gene': 'GC12M039853', 'score': 0.34}, {'connected_gene': 'C12orf40', 'score': 0.08}, {'connected_gene': 'SLC2A13', 'score': 0.06}]
chr12	GH12I039440	39440601	39444742	2.25	[{'connected_gene': 'KIF21A', 'score': 559.54}, {'connected_gene': 'C12orf40', 'score': 10.51}, {'connected_gene': 'GC12P039416', 'score': 0.31}]
chr12	GH12I039595	39595080	39602331	0.75	[{'connected_gene': 'C12orf40', 'score': 11.43}, {'connected_gene': 'KIF21A', 'score': 4.48}, {'connected_gene': 'ABCD2', 'score': 0.23}, {'connected_gene': 'ENSG00000270273', 'score': 0.22}, {'connected_gene': 'GC12P039462', 'score': 0.12}]
chr12	GH12I039585	39585229	39590964	0.54	[{'connected_gene': 'C12orf40', 'score': 11.5}, {'connected_gene': 'KIF21A', 'score': 8.95}, {'connected_gene': 'ENSG00000270273', 'score': 0.25}, {'connected_gene': 'ABCD2', 'score': 0.21}, {'connected_gene': 'GC12P039462', 'score': 0.13}]
chr12	GH12I039626	39626136	39626195	1.07	[{'connected_gene': 'C12orf40', 'score': 550.77}, {'connected_gene': 'ABCD2', 'score': 0.31}, {'connected_gene': 'ENSG00000270273', 'score': 0.17}, {'connected_gene': 'GC12P039462', 'score': 0.1}]
chr12	GH12I039606	39606139	39606288	0.51	[{'connected_gene': 'C12orf40', 'score': 0.37}, {'connected_gene': 'ABCD2', 'score': 0.25}, {'connected_gene': 'ENSG00000270273', 'score': 0.2}, {'connected_gene': 'GC12P039462', 'score': 0.11}]
chr12	GH12I039605	39605599	39605748	0.69	[{'connected_gene': 'C12orf40', 'score': 0.34}, {'connected_gene': 'ABCD2', 'score': 0.25}, {'connected_gene': 'ENSG00000270273', 'score': 0.2}, {'connected_gene': 'GC12P039462', 'score': 0.11}]
chr12	GH12I039682	39682524	39683714	0.31	[{'connected_gene': 'C12orf40', 'score': 15.97}, {'connected_gene': 'PIR34151', 'score': 0.39}, {'connected_gene': 'ABCD2', 'score': 0.29}, {'connected_gene': 'GC12P039462', 'score': 0.07}]
chr12	GH12I039591	39591771	39593506	0.64	[{'connected_gene': 'C12orf40', 'score': 10.9}, {'connected_gene': 'ENSG00000270273', 'score': 0.23}, {'connected_gene': 'ABCD2', 'score': 0.22}, {'connected_gene': 'GC12P039462', 'score': 0.13}]
chr12	GH12I039772	39772479	39773501	0.59	[{'connected_gene': 'C12orf40', 'score': 5.32}, {'connected_gene': 'GC12M039756', 'score': 0.37}, {'connected_gene': 'GC12M039794', 'score': 0.31}, {'connected_gene': 'SLC2A13', 'score': 0.06}]
chr12	GH12I039617	39617565	39623116	2.29	[{'connected_gene': 'ABCD2', 'score': 550.29}, {'connected_gene': 'KIF21A', 'score': 5.46}, {'connected_gene': 'C12orf40', 'score': 0.44}, {'connected_gene': 'ENSG00000270273', 'score': 0.18}, {'connected_gene': 'GC12P039462', 'score': 0.1}]
chr12	GH12I039752	39752551	39753508	0.2	[{'connected_gene': 'LINC02406', 'score': 4.96}, {'connected_gene': 'GC12M039756', 'score': 0.77}, {'connected_gene': 'PIR34151', 'score': 0.22}, {'connected_gene': 'C12orf40', 'score': 0.13}]
chr12	GH12I039627	39627599	39629302	0.46	[{'connected_gene': 'LINC02406', 'score': 5.26}, {'connected_gene': 'LINC02555', 'score': 4.7}, {'connected_gene': 'C12orf40', 'score': 0.77}, {'connected_gene': 'ABCD2', 'score': 0.34}, {'connected_gene': 'GC12P039462', 'score': 0.1}]
chr12	GH12I039575	39575539	39575648	0.4	[{'connected_gene': 'ENSG00000270273', 'score': 0.28}, {'connected_gene': 'C12orf40', 'score': 0.23}, {'connected_gene': 'ABCD2', 'score': 0.18}, {'connected_gene': 'GC12P039462', 'score': 0.14}]
chr12	GH12I039813	39813549	39814395	0.2	[{'connected_gene': 'ENSG00000199571', 'score': 0.44}, {'connected_gene': 'GC12M039820', 'score': 0.44}, {'connected_gene': 'GC12M039794', 'score': 0.39}, {'connected_gene': 'C12orf40', 'score': 0.09}, {'connected_gene': 'SLC2A13', 'score': 0.06}]
chr12	GH12I039902	39902939	39903088	0.52	[{'connected_gene': 'GC12P039941', 'score': 0.28}, {'connected_gene': 'PIR55346', 'score': 0.23}, {'connected_gene': 'GC12M039853', 'score': 0.23}, {'connected_gene': 'SLC2A13', 'score': 0.08}, {'connected_gene': 'C12orf40', 'score': 0.06}]