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
ENST00000546655	[[53645034, 53645408], [53645488, 53645681]]	None
ENST00000534842	[[53645369, 53645819], [53646601, 53648189]]	[[53645516, 53645819], [53646601, 53647972]]
ENST00000551660	[[53645436, 53645819], [53646601, 53647536]]	[[53645516, 53645819], [53646601, 53647536]]
ENST00000329548	[[53645879, 53646052], [53646601, 53648188]]	[[53646619, 53647972]]
ENST00000552097	[[53646232, 53646267], [53646601, 53646993]]	None
NM_001170790	[[53645369, 53645819], [53646601, 53648190]]	[[53645516, 53645819], [53646601, 53647972]]
NM_032889	[[53645875, 53646052], [53646601, 53648190]]	[[53646619, 53647972]]

Promoter

Chrom	Start	End	Description
chr12	53645870	53645897	CAGE_peak_2_at_MFSD5_5end
chr12	53645918	53645975	CAGE_peak_1_at_MFSD5_5end
chr12	53645976	53645992	CAGE_peak_3_at_MFSD5_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr12	GH12I053287	53287797	53287966	0.71	[{'connected_gene': 'ESPL1', 'score': 39.19}, {'connected_gene': 'MFSD5', 'score': 11.67}, {'connected_gene': 'ITGB7', 'score': 11.24}, {'connected_gene': 'ZNF740', 'score': 11.17}, {'connected_gene': 'CSAD', 'score': 11.17}, {'connected_gene': 'SOAT2', 'score': 9.84}, {'connected_gene': 'IGFBP6', 'score': 9.84}, {'connected_gene': 'PFDN5', 'score': 0.44}]
chr12	GH12I053244	53244156	53244811	0.83	[{'connected_gene': 'ESPL1', 'score': 10.1}, {'connected_gene': 'ENSG00000283536', 'score': 0.77}, {'connected_gene': 'MFSD5', 'score': 0.44}]
chr12	GH12I053190	53190197	53190366	0.77	[{'connected_gene': 'ESPL1', 'score': 10.9}, {'connected_gene': 'SOAT2', 'score': 10.83}, {'connected_gene': 'MFSD5', 'score': 10.8}, {'connected_gene': 'RNU6-333P', 'score': 10.43}, {'connected_gene': 'C12orf10', 'score': 10.17}, {'connected_gene': 'ZNF740', 'score': 0.44}, {'connected_gene': 'CSAD', 'score': 0.44}, {'connected_gene': 'ITGB7', 'score': 0.37}]
chr12	GH12I053187	53187257	53187340	0.38	[{'connected_gene': 'ESPL1', 'score': 10.89}, {'connected_gene': 'SOAT2', 'score': 10.83}, {'connected_gene': 'MFSD5', 'score': 10.8}, {'connected_gene': 'RNU6-333P', 'score': 10.44}, {'connected_gene': 'C12orf10', 'score': 10.16}, {'connected_gene': 'ZNF740', 'score': 0.44}, {'connected_gene': 'CSAD', 'score': 0.44}, {'connected_gene': 'ITGB7', 'score': 0.34}]
chr12	GH12I053289	53289041	53291356	0.2	[{'connected_gene': 'ESPL1', 'score': 46.02}, {'connected_gene': 'AAAS', 'score': 17.14}, {'connected_gene': 'ITGB7', 'score': 11.58}, {'connected_gene': 'MFSD5', 'score': 11.55}, {'connected_gene': 'RNU6-333P', 'score': 10.32}, {'connected_gene': 'SOAT2', 'score': 10.32}, {'connected_gene': 'IGFBP6', 'score': 9.94}, {'connected_gene': 'AMHR2', 'score': 9.77}, {'connected_gene': 'PFDN5', 'score': 0.44}]
chr12	GH12I053495	53495669	53497600	1.45	[{'connected_gene': 'MFSD5', 'score': 3.41}, {'connected_gene': 'MAP3K12', 'score': 0.77}, {'connected_gene': 'ENSG00000273658', 'score': 0.29}]
chr12	GH12I053250	53250571	53253530	2.06	[{'connected_gene': 'MFSD5', 'score': 556.02}, {'connected_gene': 'PIR31799', 'score': 550.77}, {'connected_gene': 'PIR41879', 'score': 550.77}, {'connected_gene': 'ZNF740', 'score': 23.64}, {'connected_gene': 'AAAS', 'score': 22.57}, {'connected_gene': 'ATF7', 'score': 21.8}, {'connected_gene': 'LOC100652999', 'score': 18.47}, {'connected_gene': 'PCBP2', 'score': 14.98}, {'connected_gene': 'SP1', 'score': 14.67}, {'connected_gene': 'HOXC5', 'score': 12.54}, {'connected_gene': 'CSAD', 'score': 12.14}, {'connected_gene': 'HOXC8', 'score': 10.81}, {'connected_gene': 'HOXC9', 'score': 10.16}, {'connected_gene': 'PFDN5', 'score': 10.14}, {'connected_gene': 'ENSG00000257808', 'score': 10.0}, {'connected_gene': 'PRR13', 'score': 8.69}]
chr12	GH12I053186	53186598	53187032	0.46	[{'connected_gene': 'SOAT2', 'score': 11.0}, {'connected_gene': 'RNU6-333P', 'score': 11.0}, {'connected_gene': 'MFSD5', 'score': 10.8}, {'connected_gene': 'C12orf10', 'score': 10.78}, {'connected_gene': 'PFDN5', 'score': 10.76}, {'connected_gene': 'ESPL1', 'score': 10.72}, {'connected_gene': 'IGFBP6', 'score': 10.3}, {'connected_gene': 'AAAS', 'score': 10.0}, {'connected_gene': 'CSAD', 'score': 7.52}, {'connected_gene': 'ZNF740', 'score': 0.44}, {'connected_gene': 'ITGB7', 'score': 0.34}]
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	GH12I053530	53530167	53530386	0.22	[{'connected_gene': 'MAP3K12', 'score': 14.79}, {'connected_gene': 'ATF7', 'score': 14.17}, {'connected_gene': 'NPFF', 'score': 11.4}, {'connected_gene': 'TARBP2', 'score': 11.35}, {'connected_gene': 'ATP5MC2', 'score': 11.16}, {'connected_gene': 'AMHR2', 'score': 10.58}, {'connected_gene': 'C12orf10', 'score': 9.36}, {'connected_gene': 'AAAS', 'score': 9.28}, {'connected_gene': 'MFSD5', 'score': 9.21}, {'connected_gene': 'CALCOCO1', 'score': 1.71}, {'connected_gene': 'LOC100652999', 'score': 0.37}, {'connected_gene': 'LOC100419830', 'score': 0.26}, {'connected_gene': 'ENSG00000267281', 'score': 0.15}]
chr12	GH12I053192	53192734	53194172	0.43	[{'connected_gene': 'RARG', 'score': 11.36}, {'connected_gene': 'ESPL1', 'score': 10.81}, {'connected_gene': 'MFSD5', 'score': 10.74}, {'connected_gene': 'SOAT2', 'score': 10.61}, {'connected_gene': 'AAAS', 'score': 9.88}, {'connected_gene': 'IGFBP6', 'score': 9.59}, {'connected_gene': 'CSAD', 'score': 5.21}, {'connected_gene': 'ZNF740', 'score': 0.39}, {'connected_gene': 'ITGB7', 'score': 0.39}]
chr12	GH12I053294	53294424	53300934	2.3	[{'connected_gene': 'PFDN5', 'score': 550.77}, {'connected_gene': 'PIR44034', 'score': 550.77}, {'connected_gene': 'PIR39957', 'score': 550.77}, {'connected_gene': 'C12orf10', 'score': 550.77}, {'connected_gene': 'ESPL1', 'score': 48.18}, {'connected_gene': 'AAAS', 'score': 32.97}, {'connected_gene': 'ZNF740', 'score': 21.32}, {'connected_gene': 'ATP5MC2', 'score': 12.98}, {'connected_gene': 'ENSG00000257605', 'score': 12.66}, {'connected_gene': 'MFSD5', 'score': 11.47}, {'connected_gene': 'SP1', 'score': 11.36}, {'connected_gene': 'ITGB7', 'score': 11.23}, {'connected_gene': 'ENSG00000257808', 'score': 11.06}, {'connected_gene': 'HNRNPA1', 'score': 10.76}, {'connected_gene': 'PCBP2', 'score': 10.6}, {'connected_gene': 'TARBP2', 'score': 10.45}, {'connected_gene': 'ENSG00000258344', 'score': 10.32}, {'connected_gene': 'SOAT2', 'score': 10.32}, {'connected_gene': 'AMHR2', 'score': 9.6}, {'connected_gene': 'IGFBP6', 'score': 9.42}]
chr12	GH12I053060	53060155	53073702	1.43	[{'connected_gene': 'PCBP2', 'score': 39.33}, {'connected_gene': 'AAAS', 'score': 39.25}, {'connected_gene': 'ZNF740', 'score': 39.14}, {'connected_gene': 'ATF7', 'score': 35.81}, {'connected_gene': 'SP1', 'score': 34.25}, {'connected_gene': 'PFDN5', 'score': 33.81}, {'connected_gene': 'EIF4B', 'score': 25.52}, {'connected_gene': 'LOC100652999', 'score': 22.7}, {'connected_gene': 'CALCOCO1', 'score': 20.51}, {'connected_gene': 'LOC283335', 'score': 14.48}, {'connected_gene': 'IGFBP6', 'score': 12.19}, {'connected_gene': 'SOAT2', 'score': 12.17}, {'connected_gene': 'CSAD', 'score': 12.12}, {'connected_gene': 'ITGB7', 'score': 10.87}, {'connected_gene': 'RNU6-333P', 'score': 10.82}, {'connected_gene': 'ESPL1', 'score': 10.26}, {'connected_gene': 'C12orf10', 'score': 10.03}, {'connected_gene': 'MFSD5', 'score': 9.91}, {'connected_gene': 'ENSG00000257808', 'score': 9.89}, {'connected_gene': 'TNS2', 'score': 8.81}, {'connected_gene': 'SPRYD3', 'score': 5.46}, {'connected_gene': 'PRR13', 'score': 4.55}, {'connected_gene': 'MIR6757', 'score': 0.44}]
chr12	GH12I053073	53073891	53075092	0.66	[{'connected_gene': 'IGFBP6', 'score': 11.51}, {'connected_gene': 'SOAT2', 'score': 11.49}, {'connected_gene': 'RNU6-333P', 'score': 10.57}, {'connected_gene': 'MFSD5', 'score': 9.92}, {'connected_gene': 'EIF4B', 'score': 4.88}, {'connected_gene': 'SPRYD3', 'score': 0.77}, {'connected_gene': 'MIR6757', 'score': 0.37}]
chr12	GH12I053243	53243033	53243060	0.22	[{'connected_gene': 'ENSG00000283536', 'score': 550.77}, {'connected_gene': 'ATP5MC2', 'score': 2.2}, {'connected_gene': 'TNS2', 'score': 1.43}, {'connected_gene': 'MFSD5', 'score': 0.44}]