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
ENST00000311106	[[95726118, 95729082], [95730567, 95730729], [95733039, 95733173], [95734582, 95734740], [95735656, 95735890], [95743926, 95744027], [95746477, 95746690], [95748021, 95748194], [95751736, 95751825], [95757583, 95757660], [95759016, 95759163], [95761523, 95761634], [95764916, 95765021], [95768566, 95768984]]	[[95728704, 95729082], [95730567, 95730729], [95733039, 95733173], [95734582, 95734740], [95735656, 95735890], [95743926, 95744027], [95746477, 95746690], [95748021, 95748194], [95751736, 95751825], [95757583, 95757660], [95759016, 95759163], [95761523, 95761634], [95764916, 95765021], [95768566, 95768746]]
ENST00000513085	[[95728628, 95729082], [95730567, 95730729], [95733039, 95733173], [95734582, 95734740], [95735656, 95735890], [95743926, 95744027], [95748021, 95748194], [95748624, 95748689]]	None
ENST00000508626	[[95728630, 95729082], [95730567, 95730729], [95733039, 95733173], [95734582, 95734740], [95735656, 95735890], [95743926, 95744027], [95746477, 95746690], [95748021, 95748194], [95751736, 95751825], [95757583, 95757660], [95759016, 95759163], [95761523, 95761634], [95764916, 95765021], [95767786, 95767864]]	[[95728704, 95729082], [95730567, 95730729], [95733039, 95733173], [95734582, 95734740], [95735656, 95735890], [95743926, 95744027], [95746477, 95746690], [95748021, 95748194], [95751736, 95751825], [95757583, 95757660], [95759016, 95759163], [95761523, 95761634], [95764916, 95765021], [95767786, 95767825]]
ENST00000509190	[[95759086, 95759163], [95761523, 95761634], [95764916, 95765021], [95768566, 95768760], [95769769, 95769847]]	[[95759086, 95759163], [95761523, 95761634], [95764916, 95765021], [95768566, 95768746]]
NM_001177875	[[95726039, 95729082], [95730567, 95730729], [95733039, 95733173], [95734582, 95734740], [95735656, 95735890], [95743926, 95744027], [95746477, 95746690], [95748021, 95748194], [95751736, 95751825], [95757583, 95757660], [95759016, 95759163], [95761523, 95761634], [95764916, 95765021], [95767786, 95767863]]	[[95728704, 95729082], [95730567, 95730729], [95733039, 95733173], [95734582, 95734740], [95735656, 95735890], [95743926, 95744027], [95746477, 95746690], [95748021, 95748194], [95751736, 95751825], [95757583, 95757660], [95759016, 95759163], [95761523, 95761634], [95764916, 95765021], [95767786, 95767825]]
NM_000439	[[95726039, 95729082], [95730567, 95730729], [95733039, 95733173], [95734582, 95734740], [95735656, 95735890], [95743926, 95744027], [95746477, 95746690], [95748021, 95748194], [95751736, 95751825], [95757583, 95757660], [95759016, 95759163], [95761523, 95761634], [95764916, 95765021], [95768566, 95768985]]	[[95728704, 95729082], [95730567, 95730729], [95733039, 95733173], [95734582, 95734740], [95735656, 95735890], [95743926, 95744027], [95746477, 95746690], [95748021, 95748194], [95751736, 95751825], [95757583, 95757660], [95759016, 95759163], [95761523, 95761634], [95764916, 95765021], [95768566, 95768746]]

Promoter

Chrom	Start	End	Description
chr5	95768762	95768786	CAGE_peak_4_at_PCSK1_5end
chr5	95768869	95768880	CAGE_peak_5_at_PCSK1_5end
chr5	95768891	95768907	CAGE_peak_3_at_PCSK1_5end
chr5	95768919	95768964	CAGE_peak_1_at_PCSK1_5end
chr5	95768973	95768987	CAGE_peak_2_at_PCSK1_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr5	GH05I096197	96197200	96201084	1.22	[{'connected_gene': 'RIOK2', 'score': 10.49}, {'connected_gene': 'ARSK', 'score': 9.93}, {'connected_gene': 'PCSK1', 'score': 4.9}, {'connected_gene': 'RNU6-524P', 'score': 0.39}, {'connected_gene': 'GC05M096211', 'score': 0.39}, {'connected_gene': 'MIR583', 'score': 0.13}, {'connected_gene': 'MIR583HG', 'score': 0.11}, {'connected_gene': 'LOC101929710', 'score': 0.07}]
chr5	GH05I096023	96023068	96028284	0.91	[{'connected_gene': 'PCSK1', 'score': 4.9}, {'connected_gene': 'MIR583HG', 'score': 0.34}, {'connected_gene': 'GC05M096002', 'score': 0.34}, {'connected_gene': 'LOC105379096', 'score': 0.25}, {'connected_gene': 'LOC101929710', 'score': 0.21}]
chr5	GH05I096508	96508159	96511657	0.9	[{'connected_gene': 'PCSK1', 'score': 10.77}, {'connected_gene': 'LOC101929710', 'score': 10.6}, {'connected_gene': 'GLRX', 'score': 4.29}, {'connected_gene': 'GC05P096498', 'score': 0.39}, {'connected_gene': 'CAST', 'score': 0.37}]
chr5	GH05I096491	96491480	96495029	0.74	[{'connected_gene': 'PCSK1', 'score': 10.94}, {'connected_gene': 'LOC101929710', 'score': 10.55}, {'connected_gene': 'GC05P096498', 'score': 0.44}, {'connected_gene': 'LOC102724070', 'score': 0.31}]
chr5	GH05I096407	96407151	96409602	0.76	[{'connected_gene': 'PCSK1', 'score': 11.75}, {'connected_gene': 'LOC101929710', 'score': 10.54}, {'connected_gene': 'GC05P096433', 'score': 0.34}, {'connected_gene': 'ENSG00000250158', 'score': 0.1}]
chr5	GH05I096219	96219267	96222022	1.29	[{'connected_gene': 'PCSK1', 'score': 4.3}, {'connected_gene': 'ENSG00000249746', 'score': 0.44}, {'connected_gene': 'ENSG00000250158', 'score': 0.31}, {'connected_gene': 'LOC101929710', 'score': 0.07}]
chr5	GH05I096279	96279169	96281947	0.75	[{'connected_gene': 'PCSK1', 'score': 4.94}, {'connected_gene': 'ENSG00000250158', 'score': 0.29}, {'connected_gene': 'GC05P096433', 'score': 0.1}, {'connected_gene': 'LOC101929710', 'score': 0.06}]
chr5	GH05I096439	96439601	96440145	0.68	[{'connected_gene': 'CAST', 'score': 10.25}, {'connected_gene': 'PCSK1', 'score': 0.44}, {'connected_gene': 'LOC102724070', 'score': 0.34}, {'connected_gene': 'LOC101929710', 'score': 0.04}]
chr5	GH05I096572	96572085	96573903	1.24	[{'connected_gene': 'CAST', 'score': 11.34}, {'connected_gene': 'PCSK1', 'score': 10.54}, {'connected_gene': 'LIX1-AS1', 'score': 5.7}, {'connected_gene': 'ENSG00000249180', 'score': 0.1}, {'connected_gene': 'LOC101929710', 'score': 0.03}]
chr5	GH05I095957	95957109	95964568	2.6	[{'connected_gene': 'ELL2', 'score': 556.43}, {'connected_gene': 'LOC101929710', 'score': 550.77}, {'connected_gene': 'PCSK1', 'score': 5.84}, {'connected_gene': 'LOC105379091', 'score': 0.15}]
chr5	GH05I095878	95878028	95880070	0.89	[{'connected_gene': 'LINC01554', 'score': 11.05}, {'connected_gene': 'ENSG00000251409', 'score': 10.68}, {'connected_gene': 'LOC101929710', 'score': 10.63}, {'connected_gene': 'SPATA9', 'score': 9.13}, {'connected_gene': 'GPR150', 'score': 8.49}, {'connected_gene': 'PCSK1', 'score': 5.67}, {'connected_gene': 'LOC105379091', 'score': 0.37}]
chr5	GH05I096335	96335476	96339386	1.07	[{'connected_gene': 'LOC105379091', 'score': 12.35}, {'connected_gene': 'LOC101929710', 'score': 11.12}, {'connected_gene': 'LINC01554', 'score': 10.53}, {'connected_gene': 'ENSG00000251409', 'score': 10.53}, {'connected_gene': 'ERAP2', 'score': 5.53}, {'connected_gene': 'PCSK1', 'score': 4.98}, {'connected_gene': 'ENSG00000250158', 'score': 0.17}, {'connected_gene': 'GC05P096433', 'score': 0.15}]
chr5	GH05I096517	96517400	96517586	0.69	[{'connected_gene': 'LOC101929710', 'score': 10.91}, {'connected_gene': 'PCSK1', 'score': 10.64}, {'connected_gene': 'ERAP1', 'score': 2.18}, {'connected_gene': 'CAST', 'score': 0.44}, {'connected_gene': 'GC05P096498', 'score': 0.37}]
chr5	GH05I096536	96536508	96539456	1.39	[{'connected_gene': 'LOC101929710', 'score': 10.88}, {'connected_gene': 'PCSK1', 'score': 10.79}, {'connected_gene': 'CAST', 'score': 2.07}, {'connected_gene': 'LNPEP', 'score': 1.6}, {'connected_gene': 'ENSG00000249180', 'score': 0.08}]
chr5	GH05I096527	96527794	96530227	0.52	[{'connected_gene': 'LOC101929710', 'score': 10.09}, {'connected_gene': 'PCSK1', 'score': 9.95}, {'connected_gene': 'CAST', 'score': 0.77}, {'connected_gene': 'ENSG00000249180', 'score': 0.08}]
chr5	GH05I096253	96253852	96260582	1.45	[{'connected_gene': 'LOC101929710', 'score': 9.35}, {'connected_gene': 'PCSK1', 'score': 4.32}, {'connected_gene': 'ELL2', 'score': 1.52}, {'connected_gene': 'ENSG00000250158', 'score': 0.44}, {'connected_gene': 'GC05P096433', 'score': 0.1}]
chr5	GH05I096293	96293013	96295431	0.89	[{'connected_gene': 'LOC101929710', 'score': 9.87}, {'connected_gene': 'PCSK1', 'score': 4.35}, {'connected_gene': 'ENSG00000250158', 'score': 0.25}, {'connected_gene': 'GC05P096433', 'score': 0.12}]
chr5	GH05I096502	96502654	96504051	0.31	[{'connected_gene': 'LOC101929710', 'score': 15.31}, {'connected_gene': 'CAST', 'score': 12.08}, {'connected_gene': 'PCSK1', 'score': 10.79}, {'connected_gene': 'GC05P096498', 'score': 0.77}]
chr5	GH05I096431	96431401	96432015	0.82	[{'connected_gene': 'GC05P096433', 'score': 550.77}, {'connected_gene': 'RIOK2', 'score': 10.49}, {'connected_gene': 'ARSK', 'score': 9.93}, {'connected_gene': 'PCSK1', 'score': 0.77}, {'connected_gene': 'ENSG00000250158', 'score': 0.09}, {'connected_gene': 'LOC101929710', 'score': 0.04}]
chr5	GH05I096433	96433238	96433297	0.76	[{'connected_gene': 'GC05P096433', 'score': 550.77}, {'connected_gene': 'PCSK1', 'score': 550.77}, {'connected_gene': 'ENSG00000250158', 'score': 0.09}, {'connected_gene': 'LOC101929710', 'score': 0.04}]
chr5	GH05I096498	96498268	96501360	0.56	[{'connected_gene': 'GC05P096498', 'score': 550.77}, {'connected_gene': 'CAST', 'score': 11.23}, {'connected_gene': 'PCSK1', 'score': 10.6}, {'connected_gene': 'LOC101929710', 'score': 10.2}]