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
ENST00000552205	[[95290830, 95291086], [95318421, 95318582], [95321792, 95322039], [95396514, 95396597], [95397370, 95397436]]	[[95322025, 95322039], [95396514, 95396597], [95397370, 95397436]]
ENST00000547447	[[95290867, 95291086], [95304008, 95304119], [95318421, 95318582]]	None
ENST00000550187	[[95365107, 95365396], [95387945, 95388033], [95391083, 95391223]]	None
ENST00000547157	[[95365107, 95365261], [95396581, 95396597], [95397370, 95397476]]	[[95365195, 95365261], [95396581, 95396597], [95397370, 95397456]]
ENST00000538372	[[95365108, 95365396], [95387945, 95388129]]	None
ENST00000551991	[[95365108, 95365396], [95387945, 95388033], [95390679, 95390752], [95396514, 95396597], [95397370, 95397384]]	[[95390705, 95390752], [95396514, 95396597], [95397370, 95397384]]
ENST00000327772	[[95365108, 95365396], [95387945, 95388033], [95396514, 95396597], [95397370, 95397546]]	[[95365215, 95365396], [95387945, 95388033], [95396514, 95396597], [95397370, 95397456]]
ENST00000547986	[[95365111, 95365396], [95396514, 95396597], [95397370, 95397489]]	[[95365373, 95365396], [95396514, 95396597], [95397370, 95397456]]
ENST00000546788	[[95365253, 95365396], [95366170, 95366265], [95387945, 95388033], [95396514, 95396597], [95397370, 95397524]]	[[95366222, 95366265], [95387945, 95388033], [95396514, 95396597], [95397370, 95397456]]
NM_018838	[[95365103, 95365396], [95387945, 95388033], [95396514, 95396597], [95397370, 95397489]]	[[95365215, 95365396], [95387945, 95388033], [95396514, 95396597], [95397370, 95397456]]
NM_001258338	[[95365103, 95365396], [95396514, 95396597], [95397370, 95397489]]	[[95365373, 95365396], [95396514, 95396597], [95397370, 95397456]]

Promoter

Chrom	Start	End	Description
chr12	95388008	95388025	CAGE_peak_2_at_NDUFA12_5end
chr12	95397442	95397491	CAGE_peak_1_at_NDUFA12_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr12	GH12I095072	95072001	95074851	2.06	[{'connected_gene': 'NR2C1', 'score': 550.77}, {'connected_gene': 'VEZT', 'score': 21.68}, {'connected_gene': 'NDUFA12', 'score': 11.63}, {'connected_gene': 'FGD6', 'score': 10.32}]
chr12	GH12I094993	94993952	94995004	0.49	[{'connected_gene': 'NDUFA12', 'score': 17.25}, {'connected_gene': 'NR2C1', 'score': 12.02}, {'connected_gene': 'GC12M095002', 'score': 0.77}, {'connected_gene': 'GC12M095001', 'score': 0.77}, {'connected_gene': 'PIR32865', 'score': 0.77}, {'connected_gene': 'GC12M095000', 'score': 0.77}, {'connected_gene': 'GC12M094957', 'score': 0.37}]
chr12	GH12I095010	95010910	95011145	0.22	[{'connected_gene': 'NDUFA12', 'score': 0.44}, {'connected_gene': 'NR2C1', 'score': 0.21}]
chr12	GH12I095017	95017931	95018199	0.22	[{'connected_gene': 'NDUFA12', 'score': 6.7}, {'connected_gene': 'NR2C1', 'score': 0.22}]
chr12	GH12I095147	95147849	95148428	0.49	[{'connected_gene': 'NDUFA12', 'score': 6.72}, {'connected_gene': 'SNRPF', 'score': 4.28}, {'connected_gene': 'RPL14P4', 'score': 0.34}, {'connected_gene': 'GC12P095210', 'score': 0.21}, {'connected_gene': 'FGD6', 'score': 0.2}]
chr12	GH12I094982	94982612	94985369	0.66	[{'connected_gene': 'NDUFA12', 'score': 19.55}, {'connected_gene': 'FGD6', 'score': 14.41}, {'connected_gene': 'SNRPF', 'score': 4.56}, {'connected_gene': 'GC12M094957', 'score': 0.44}, {'connected_gene': 'GC12M095002', 'score': 0.39}, {'connected_gene': 'GC12M095001', 'score': 0.39}, {'connected_gene': 'PIR32865', 'score': 0.39}, {'connected_gene': 'GC12M095000', 'score': 0.39}]
chr12	GH12I095198	95198198	95208554	1.69	[{'connected_gene': 'NDUFA12', 'score': 14.8}, {'connected_gene': 'FGD6', 'score': 10.3}, {'connected_gene': 'VEZT', 'score': 5.89}, {'connected_gene': 'GC12P095210', 'score': 0.44}, {'connected_gene': 'RPL14P4', 'score': 0.18}]
chr12	GH12I094972	94972536	94974207	0.31	[{'connected_gene': 'NDUFA12', 'score': 19.48}, {'connected_gene': 'FGD6', 'score': 14.47}, {'connected_gene': 'KRT19P2', 'score': 10.04}, {'connected_gene': 'MIR492', 'score': 10.04}, {'connected_gene': 'TMCC3', 'score': 10.0}, {'connected_gene': 'ENSG00000258365', 'score': 4.76}, {'connected_gene': 'GC12M094957', 'score': 0.77}, {'connected_gene': 'LOC105369915', 'score': 0.25}]
chr12	GH12I095002	95002562	95004558	2.04	[{'connected_gene': 'NDUFA12', 'score': 574.72}, {'connected_gene': 'METAP2', 'score': 13.1}, {'connected_gene': 'GC12M095002', 'score': 0.44}, {'connected_gene': 'GC12M095001', 'score': 0.44}, {'connected_gene': 'PIR32865', 'score': 0.44}, {'connected_gene': 'GC12M095000', 'score': 0.44}]
chr12	GH12I094943	94943732	94944554	0.72	[{'connected_gene': 'NDUFA12', 'score': 5.0}, {'connected_gene': 'LOC105369915', 'score': 0.37}, {'connected_gene': 'GC12M094957', 'score': 0.29}]
chr12	GH12I095143	95143837	95144310	0.4	[{'connected_gene': 'NDUFA12', 'score': 5.38}, {'connected_gene': 'RPL14P4', 'score': 0.37}, {'connected_gene': 'GC12P095210', 'score': 0.2}, {'connected_gene': 'FGD6', 'score': 0.19}]
chr12	GH12I094953	94953417	94955034	0.89	[{'connected_gene': 'FGD6', 'score': 8.36}, {'connected_gene': 'NDUFA12', 'score': 7.71}, {'connected_gene': 'USP44', 'score': 5.26}, {'connected_gene': 'GC12M094957', 'score': 0.34}, {'connected_gene': 'LOC105369915', 'score': 0.31}]
chr12	GH12I094989	94989856	94991004	0.43	[{'connected_gene': 'FGD6', 'score': 14.47}, {'connected_gene': 'NDUFA12', 'score': 14.16}, {'connected_gene': 'NR2C1', 'score': 12.02}, {'connected_gene': 'GC12M095002', 'score': 0.44}, {'connected_gene': 'GC12M095001', 'score': 0.44}, {'connected_gene': 'PIR32865', 'score': 0.44}, {'connected_gene': 'GC12M095000', 'score': 0.44}, {'connected_gene': 'GC12M094957', 'score': 0.39}]
chr12	GH12I095179	95179020	95179554	0.46	[{'connected_gene': 'FGD6', 'score': 21.81}, {'connected_gene': 'NDUFA12', 'score': 13.45}, {'connected_gene': 'VEZT', 'score': 11.46}, {'connected_gene': 'GC12P095210', 'score': 0.29}, {'connected_gene': 'RPL14P4', 'score': 0.23}]
chr12	GH12I095172	95172604	95174742	1.29	[{'connected_gene': 'FGD6', 'score': 21.07}, {'connected_gene': 'VEZT', 'score': 16.64}, {'connected_gene': 'NDUFA12', 'score': 13.54}, {'connected_gene': 'GC12P095210', 'score': 0.28}, {'connected_gene': 'RPL14P4', 'score': 0.25}]
chr12	GH12I095163	95163901	95165006	0.96	[{'connected_gene': 'FGD6', 'score': 20.85}, {'connected_gene': 'VEZT', 'score': 10.68}, {'connected_gene': 'NDUFA12', 'score': 8.45}, {'connected_gene': 'RPL14P4', 'score': 0.28}, {'connected_gene': 'GC12P095210', 'score': 0.25}]
chr12	GH12I095114	95114204	95119871	1.21	[{'connected_gene': 'FGD6', 'score': 37.93}, {'connected_gene': 'VEZT', 'score': 22.41}, {'connected_gene': 'NDUFA12', 'score': 8.19}, {'connected_gene': 'RPL14P4', 'score': 0.44}, {'connected_gene': 'GC12P095101', 'score': 0.37}]
chr12	GH12I095066	95066585	95066734	0.31	[{'connected_gene': 'VEZT', 'score': 10.32}, {'connected_gene': 'FGD6', 'score': 10.32}, {'connected_gene': 'NR2C1', 'score': 0.44}, {'connected_gene': 'NDUFA12', 'score': 0.21}]
chr12	GH12I095177	95177181	95178954	0.57	[{'connected_gene': 'VEZT', 'score': 17.5}, {'connected_gene': 'FGD6', 'score': 11.46}, {'connected_gene': 'NDUFA12', 'score': 7.82}, {'connected_gene': 'GC12P095210', 'score': 0.29}, {'connected_gene': 'RPL14P4', 'score': 0.23}]
chr12	GH12I094904	94904425	94904455	0.22	[{'connected_gene': 'VEZT', 'score': 1.19}, {'connected_gene': 'GC12M094870', 'score': 0.44}, {'connected_gene': 'GC12P094890', 'score': 0.39}, {'connected_gene': 'LOC105369915', 'score': 0.34}, {'connected_gene': 'NDUFA12', 'score': 0.15}]
chr12	GH12I094940	94940930	94942958	0.92	[{'connected_gene': 'LOC105369915', 'score': 0.39}, {'connected_gene': 'GC12M094957', 'score': 0.28}, {'connected_gene': 'NDUFA12', 'score': 0.21}]
chr12	GH12I094951	94951305	94951354	0.43	[{'connected_gene': 'LOC105369915', 'score': 0.34}, {'connected_gene': 'GC12M094957', 'score': 0.31}, {'connected_gene': 'NDUFA12', 'score': 0.23}]
chr12	GH12I095083	95083459	95085653	0.84	[{'connected_gene': 'GC12M095086', 'score': 550.77}, {'connected_gene': 'NDUFA12', 'score': 8.69}, {'connected_gene': 'GC12M095077', 'score': 0.44}, {'connected_gene': 'FGD6', 'score': 0.12}]