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
ENST00000536324	[[53720361, 53723204], [53729409, 53729477], [53729929, 53730166]]	[[53721929, 53723204], [53729409, 53729430]]
ENST00000303846	[[53720362, 53723204], [53729409, 53729538]]	[[53721929, 53723204], [53729409, 53729430]]
ENST00000537210	[[53721929, 53723204], [53729929, 53730126]]	[[53721929, 53723171]]
ENST00000547755	[[53722364, 53723204], [53738897, 53739099]]	[[53722364, 53723171]]
NM_152860	[[53720358, 53723204], [53729409, 53729537]]	[[53721929, 53723204], [53729409, 53729430]]
NM_001173467	[[53720358, 53723204], [53729409, 53729477], [53729929, 53730167]]	[[53721929, 53723204], [53729409, 53729430]]
NM_001300837	[[53720358, 53723204], [53729929, 53730167], [53738471, 53738577]]	[[53721929, 53723171]]

Promoter

Chrom	Start	End	Description
chr12	53729525	53729541	CAGE_peak_5_at_SP7_5end
chr12	53729546	53729565	CAGE_peak_4_at_SP7_5end
chr12	53730126	53730146	CAGE_peak_1_at_SP7_5end
chr12	53730147	53730177	CAGE_peak_2_at_SP7_5end
chr12	53730178	53730189	CAGE_peak_3_at_SP7_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr12	GH12I053320	53320232	53322543	2.12	[{'connected_gene': 'AAAS', 'score': 596.07}, {'connected_gene': 'PIR33338', 'score': 550.77}, {'connected_gene': 'GC12M053328', 'score': 550.77}, {'connected_gene': 'GC12M053329', 'score': 550.77}, {'connected_gene': 'PIR38393', 'score': 550.77}, {'connected_gene': 'ESPL1', 'score': 32.16}, {'connected_gene': 'SP1', 'score': 25.07}, {'connected_gene': 'PCBP2', 'score': 22.4}, {'connected_gene': 'MAP3K12', 'score': 20.26}, {'connected_gene': 'ENSG00000258344', 'score': 19.08}, {'connected_gene': 'ZNF740', 'score': 18.83}, {'connected_gene': 'HNRNPA1', 'score': 13.85}, {'connected_gene': 'C12orf10', 'score': 12.42}, {'connected_gene': 'PFDN5', 'score': 12.39}, {'connected_gene': 'SP7', 'score': 12.29}, {'connected_gene': 'RARG', 'score': 11.29}, {'connected_gene': 'ENSG00000257808', 'score': 11.03}, {'connected_gene': 'AMHR2', 'score': 10.85}, {'connected_gene': 'ITGB7', 'score': 10.84}, {'connected_gene': 'CBX5', 'score': 10.82}, {'connected_gene': 'MFSD5', 'score': 10.55}, {'connected_gene': 'TARBP2', 'score': 10.13}, {'connected_gene': 'NPFF', 'score': 10.12}, {'connected_gene': 'LOC100652999', 'score': 9.8}, {'connected_gene': 'SOAT2', 'score': 9.78}, {'connected_gene': 'IGFBP6', 'score': 9.68}, {'connected_gene': 'ATP5MC2', 'score': 5.76}, {'connected_gene': 'GC12M053303', 'score': 0.77}, {'connected_gene': 'PIR50020', 'score': 0.39}]
chr12	GH12I053323	53323580	53326497	1.56	[{'connected_gene': 'AAAS', 'score': 562.7}, {'connected_gene': 'GC12M053303', 'score': 550.77}, {'connected_gene': 'SP1', 'score': 15.68}, {'connected_gene': 'ATP5MC2', 'score': 14.74}, {'connected_gene': 'PCBP2', 'score': 13.66}, {'connected_gene': 'ENSG00000258344', 'score': 10.47}, {'connected_gene': 'ZNF740', 'score': 10.16}, {'connected_gene': 'LOC100652999', 'score': 9.8}, {'connected_gene': 'SP7', 'score': 0.34}]
chr12	GH12I053352	53352197	53353638	1.27	[{'connected_gene': 'AAAS', 'score': 13.06}, {'connected_gene': 'SP7', 'score': 0.44}, {'connected_gene': 'SP1', 'score': 0.31}]
chr12	GH12I053415	53414768	53416097	0.79	[{'connected_gene': 'PRR13', 'score': 12.82}, {'connected_gene': 'PCBP2', 'score': 12.79}, {'connected_gene': 'SP7', 'score': 12.38}, {'connected_gene': 'AAAS', 'score': 11.3}, {'connected_gene': 'MAP3K12', 'score': 10.84}, {'connected_gene': 'TARBP2', 'score': 10.84}, {'connected_gene': 'NPFF', 'score': 10.65}, {'connected_gene': 'C12orf10', 'score': 10.38}, {'connected_gene': 'PFDN5', 'score': 10.38}, {'connected_gene': 'GC12P053422', 'score': 0.44}, {'connected_gene': 'GC12M053411', 'score': 0.44}, {'connected_gene': 'SP1', 'score': 0.28}]
chr12	GH12I053348	53348398	53349546	0.43	[{'connected_gene': 'SP1', 'score': 32.39}, {'connected_gene': 'ESPL1', 'score': 19.75}, {'connected_gene': 'SP7', 'score': 17.37}, {'connected_gene': 'ATP5MC2', 'score': 6.95}]
chr12	GH12I053364	53364632	53367384	1.36	[{'connected_gene': 'SP1', 'score': 34.82}, {'connected_gene': 'ENSG00000270175', 'score': 12.47}, {'connected_gene': 'AAAS', 'score': 10.15}, {'connected_gene': 'PRR13', 'score': 7.34}, {'connected_gene': 'ATP5MC2', 'score': 5.22}, {'connected_gene': 'PFDN5', 'score': 4.3}, {'connected_gene': 'SP7', 'score': 0.34}]
chr12	GH12I053368	53368802	53374470	1.8	[{'connected_gene': 'SP1', 'score': 39.92}, {'connected_gene': 'AAAS', 'score': 26.86}, {'connected_gene': 'CSAD', 'score': 16.34}, {'connected_gene': 'TARBP2', 'score': 13.69}, {'connected_gene': 'ZNF740', 'score': 13.48}, {'connected_gene': 'ENSG00000258344', 'score': 13.3}, {'connected_gene': 'ENSG00000270175', 'score': 12.48}, {'connected_gene': 'HNRNPA1', 'score': 12.18}, {'connected_gene': 'ENSG00000257808', 'score': 11.53}, {'connected_gene': 'ATF7', 'score': 11.53}, {'connected_gene': 'PCBP2', 'score': 11.4}, {'connected_gene': 'NPFF', 'score': 10.15}, {'connected_gene': 'LOC100652999', 'score': 10.01}, {'connected_gene': 'PFDN5', 'score': 9.57}, {'connected_gene': 'PRR13', 'score': 9.37}, {'connected_gene': 'ITGB7', 'score': 1.82}, {'connected_gene': 'SP7', 'score': 0.31}]
chr12	GH12I053417	53417173	53418146	0.83	[{'connected_gene': 'SP1', 'score': 25.09}, {'connected_gene': 'AAAS', 'score': 20.15}, {'connected_gene': 'SP7', 'score': 12.38}, {'connected_gene': 'MAP3K12', 'score': 10.67}, {'connected_gene': 'TARBP2', 'score': 10.67}, {'connected_gene': 'NPFF', 'score': 10.66}, {'connected_gene': 'C12orf10', 'score': 10.38}, {'connected_gene': 'PFDN5', 'score': 10.38}, {'connected_gene': 'ATP5MC2', 'score': 4.73}, {'connected_gene': 'GC12P053422', 'score': 0.44}, {'connected_gene': 'GC12M053411', 'score': 0.44}]
chr12	GH12I053378	53378125	53383729	2.3	[{'connected_gene': 'SP1', 'score': 585.4}, {'connected_gene': 'PIR43704', 'score': 550.77}, {'connected_gene': 'PRR13', 'score': 22.75}, {'connected_gene': 'AAAS', 'score': 20.94}, {'connected_gene': 'HOXC8', 'score': 19.25}, {'connected_gene': 'HOXC9', 'score': 19.0}, {'connected_gene': 'ENSG00000258086', 'score': 13.52}, {'connected_gene': 'AMHR2', 'score': 12.92}, {'connected_gene': 'SP7', 'score': 12.88}, {'connected_gene': 'HOXC5', 'score': 12.54}, {'connected_gene': 'EIF4B', 'score': 12.33}, {'connected_gene': 'HOXC6', 'score': 10.65}, {'connected_gene': 'HOXC4', 'score': 10.58}, {'connected_gene': 'ATF7', 'score': 9.82}]
chr12	GH12I053419	53419585	53420104	0.43	[{'connected_gene': 'SP1', 'score': 25.23}, {'connected_gene': 'SP7', 'score': 12.38}, {'connected_gene': 'AAAS', 'score': 11.25}, {'connected_gene': 'MAP3K12', 'score': 10.67}, {'connected_gene': 'TARBP2', 'score': 10.67}, {'connected_gene': 'NPFF', 'score': 10.66}, {'connected_gene': 'PFDN5', 'score': 10.38}, {'connected_gene': 'C12orf10', 'score': 10.38}, {'connected_gene': 'GC12P053422', 'score': 0.77}, {'connected_gene': 'GC12M053411', 'score': 0.39}]
chr12	GH12I053418	53418251	53418324	0.31	[{'connected_gene': 'SP7', 'score': 12.38}, {'connected_gene': 'AAAS', 'score': 11.25}, {'connected_gene': 'MAP3K12', 'score': 10.67}, {'connected_gene': 'TARBP2', 'score': 10.67}, {'connected_gene': 'NPFF', 'score': 10.66}, {'connected_gene': 'C12orf10', 'score': 10.38}, {'connected_gene': 'PFDN5', 'score': 10.38}, {'connected_gene': 'GC12P053422', 'score': 0.77}, {'connected_gene': 'GC12M053411', 'score': 0.44}]
chr12	GH12I053335	53335798	53335857	0.5	[{'connected_gene': 'SP7', 'score': 550.44}, {'connected_gene': 'AAAS', 'score': 0.39}]
chr12	GH12I053336	53336378	53336437	0.61	[{'connected_gene': 'SP7', 'score': 550.44}, {'connected_gene': 'AAAS', 'score': 0.39}]
chr12	GH12I053344	53344388	53346622	1.69	[{'connected_gene': 'SP7', 'score': 567.47}, {'connected_gene': 'SP1', 'score': 34.68}, {'connected_gene': 'ZNF740', 'score': 23.08}, {'connected_gene': 'ESPL1', 'score': 19.84}, {'connected_gene': 'HNRNPA1', 'score': 19.65}, {'connected_gene': 'PCBP2', 'score': 19.4}, {'connected_gene': 'ENSG00000258344', 'score': 19.15}, {'connected_gene': 'ATF7', 'score': 15.22}, {'connected_gene': 'EIF4B', 'score': 13.23}, {'connected_gene': 'AAAS', 'score': 12.78}, {'connected_gene': 'CALCOCO1', 'score': 12.09}, {'connected_gene': 'RARG', 'score': 12.07}, {'connected_gene': 'IGFBP6', 'score': 11.31}, {'connected_gene': 'ENSG00000257808', 'score': 11.02}, {'connected_gene': 'C12orf10', 'score': 10.66}, {'connected_gene': 'PFDN5', 'score': 10.37}, {'connected_gene': 'LOC100652999', 'score': 9.87}, {'connected_gene': 'ATP5MC2', 'score': 6.58}]
chr12	GH12I053355	53355518	53356170	0.69	[{'connected_gene': 'SP7', 'score': 0.39}, {'connected_gene': 'SP1', 'score': 0.34}]
chr12	GH12I053420	53420147	53422286	1.17	[{'connected_gene': 'GC12P053422', 'score': 550.77}, {'connected_gene': 'SP1', 'score': 25.22}, {'connected_gene': 'SP7', 'score': 12.37}, {'connected_gene': 'AAAS', 'score': 11.86}, {'connected_gene': 'PFDN5', 'score': 10.85}, {'connected_gene': 'C12orf10', 'score': 10.85}, {'connected_gene': 'MAP3K12', 'score': 10.67}, {'connected_gene': 'TARBP2', 'score': 10.67}, {'connected_gene': 'NPFF', 'score': 10.66}, {'connected_gene': 'ESPL1', 'score': 8.59}, {'connected_gene': 'GC12M053411', 'score': 0.39}]