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
ENST00000505571	[[78907942, 78907997], [78908833, 78908898], [78915434, 78915608], [78915816, 78915906], [78919074, 78919471]]	None
ENST00000453514	[[78908242, 78908898], [78915434, 78915608], [78915816, 78915906], [78919074, 78919312], [78936673, 78936788], [78936927, 78937019], [78938654, 78938733], [78940945, 78941015], [78944439, 78944516], [78944884, 78945013], [78952780, 78952824], [78964714, 78964851], [78975401, 78975493], [78977804, 78977884], [78981021, 78982471]]	[[78915471, 78915608], [78915816, 78915906], [78919074, 78919312], [78936673, 78936788], [78936927, 78937019], [78938654, 78938733], [78940945, 78941015], [78944439, 78944516], [78944884, 78945013], [78952780, 78952824], [78964714, 78964851], [78975401, 78975493], [78977804, 78977884], [78981021, 78981096]]
ENST00000423041	[[78908255, 78908558], [78908833, 78908898], [78915434, 78915608], [78915816, 78915906], [78919074, 78919312], [78936673, 78936788], [78936927, 78937019], [78938666, 78938733], [78940945, 78941015], [78944439, 78944516], [78944884, 78945013], [78952780, 78952824], [78964714, 78964851], [78975401, 78975493], [78977804, 78977884], [78981021, 78982471]]	[[78915471, 78915608], [78915816, 78915906], [78919074, 78919312], [78936673, 78936788], [78936927, 78937019], [78938666, 78938733], [78940945, 78941015], [78944439, 78944516], [78944884, 78945013], [78952780, 78952824], [78964714, 78964851], [78975401, 78975493], [78977804, 78977884], [78981021, 78981096]]
ENST00000504233	[[78908257, 78908898], [78915434, 78915608], [78915816, 78915906], [78919074, 78919312], [78936673, 78936788], [78936927, 78937019], [78938654, 78938733], [78940945, 78941015], [78944439, 78944516], [78952780, 78952824], [78964714, 78964851], [78975401, 78975493], [78977804, 78977884], [78981021, 78982089]]	[[78915471, 78915608], [78915816, 78915906], [78919074, 78919312], [78936673, 78936788], [78936927, 78937019], [78938654, 78938733], [78940945, 78941015], [78944439, 78944516], [78952780, 78952824], [78964714, 78964851], [78975401, 78975493], [78977804, 78977884], [78981021, 78981096]]
ENST00000428308	[[78908307, 78908558], [78908833, 78908898], [78910897, 78910986], [78915434, 78915608], [78915816, 78915906], [78919074, 78919312], [78936673, 78936788], [78936927, 78937019], [78938654, 78938733], [78940945, 78941015], [78944439, 78944516], [78944884, 78945013], [78952780, 78952824], [78964714, 78964851], [78975401, 78975493], [78977804, 78977884], [78981021, 78981403]]	[[78915471, 78915608], [78915816, 78915906], [78919074, 78919312], [78936673, 78936788], [78936927, 78937019], [78938654, 78938733], [78940945, 78941015], [78944439, 78944516], [78944884, 78945013], [78952780, 78952824], [78964714, 78964851], [78975401, 78975493], [78977804, 78977884], [78981021, 78981096]]
ENST00000515807	[[78908325, 78908514], [78908833, 78908898], [78915434, 78915608], [78915816, 78915906], [78919074, 78919132]]	None
ENST00000502269	[[78908342, 78908898], [78909757, 78909906]]	None
ENST00000296783	[[78908395, 78908592], [78908833, 78908898], [78915434, 78915608], [78915816, 78915906], [78919074, 78919312], [78936673, 78936788], [78936927, 78937019], [78938654, 78938733], [78940945, 78941015], [78944439, 78944516], [78944884, 78945013], [78952780, 78952824], [78964714, 78964851], [78975401, 78975493], [78977804, 78977884], [78981021, 78982471]]	[[78915471, 78915608], [78915816, 78915906], [78919074, 78919312], [78936673, 78936788], [78936927, 78937019], [78938654, 78938733], [78940945, 78941015], [78944439, 78944516], [78944884, 78945013], [78952780, 78952824], [78964714, 78964851], [78975401, 78975493], [78977804, 78977884], [78981021, 78981096]]
ENST00000508620	[[78908397, 78908592], [78908833, 78908898], [78913352, 78913422], [78915434, 78915587]]	None
ENST00000514095	[[78908397, 78908592], [78908833, 78908898], [78915434, 78915608], [78915816, 78915906], [78916389, 78916440]]	None
ENST00000503620	[[78908440, 78908558], [78908833, 78908898], [78913352, 78913422], [78915434, 78915608], [78915816, 78915906], [78919074, 78919139]]	None
ENST00000509227	[[78940468, 78941015], [78944439, 78944474]]	None
ENST00000504982	[[78944527, 78945013], [78964714, 78964828]]	None
ENST00000513735	[[78944684, 78945013], [78952780, 78952824], [78964714, 78964851], [78975401, 78975491]]	None
ENST00000515298	[[78952703, 78952824], [78964714, 78964851], [78975401, 78975493], [78977804, 78977884], [78981021, 78981056]]	None
ENST00000510721	[[78964543, 78964851], [78975401, 78975493], [78977804, 78977884], [78981021, 78981063]]	None
ENST00000505770	[[78977474, 78977884], [78981021, 78981153]]	None
NM_001297744	[[78908242, 78908558], [78908833, 78908898], [78915434, 78915608], [78915816, 78915906], [78919074, 78919312], [78936673, 78936788], [78936927, 78937019], [78938666, 78938733], [78940945, 78941015], [78944439, 78944516], [78944884, 78945013], [78952780, 78952824], [78964714, 78964851], [78975401, 78975493], [78977804, 78977884], [78981021, 78982471]]	[[78915471, 78915608], [78915816, 78915906], [78919074, 78919312], [78936673, 78936788], [78936927, 78937019], [78938666, 78938733], [78940945, 78941015], [78944439, 78944516], [78944884, 78945013], [78952780, 78952824], [78964714, 78964851], [78975401, 78975493], [78977804, 78977884], [78981021, 78981096]]
NM_001114393	[[78908242, 78908558], [78908833, 78908898], [78915434, 78915608], [78915816, 78915906], [78919074, 78919312], [78936673, 78936788], [78936927, 78937019], [78938654, 78938733], [78940945, 78941015], [78944439, 78944516], [78944884, 78945013], [78952780, 78952824], [78964714, 78964851], [78975401, 78975493], [78977804, 78977884], [78981021, 78982471]]	[[78915471, 78915608], [78915816, 78915906], [78919074, 78919312], [78936673, 78936788], [78936927, 78937019], [78938654, 78938733], [78940945, 78941015], [78944439, 78944516], [78944884, 78945013], [78952780, 78952824], [78964714, 78964851], [78975401, 78975493], [78977804, 78977884], [78981021, 78981096]]
NM_173797	[[78908242, 78908592], [78908833, 78908898], [78915434, 78915608], [78915816, 78915906], [78919074, 78919312], [78936673, 78936788], [78936927, 78937019], [78938654, 78938733], [78940945, 78941015], [78944439, 78944516], [78944884, 78945013], [78952780, 78952824], [78964714, 78964851], [78975401, 78975493], [78977804, 78977884], [78981021, 78982471]]	[[78915471, 78915608], [78915816, 78915906], [78919074, 78919312], [78936673, 78936788], [78936927, 78937019], [78938654, 78938733], [78940945, 78941015], [78944439, 78944516], [78944884, 78945013], [78952780, 78952824], [78964714, 78964851], [78975401, 78975493], [78977804, 78977884], [78981021, 78981096]]
NM_001297745	[[78908242, 78908898], [78915434, 78915608], [78915816, 78915906], [78919074, 78919312], [78936673, 78936788], [78936927, 78937019], [78938654, 78938733], [78940945, 78941015], [78944439, 78944516], [78952780, 78952824], [78964714, 78964851], [78975401, 78975493], [78977804, 78977884], [78981021, 78982471]]	[[78915471, 78915608], [78915816, 78915906], [78919074, 78919312], [78936673, 78936788], [78936927, 78937019], [78938654, 78938733], [78940945, 78941015], [78944439, 78944516], [78952780, 78952824], [78964714, 78964851], [78975401, 78975493], [78977804, 78977884], [78981021, 78981096]]
NM_001114394	[[78908242, 78908898], [78915434, 78915608], [78915816, 78915906], [78919074, 78919312], [78936673, 78936788], [78936927, 78937019], [78938654, 78938733], [78940945, 78941015], [78944439, 78944516], [78944884, 78945013], [78952780, 78952824], [78964714, 78964851], [78975401, 78975493], [78977804, 78977884], [78981021, 78982471]]	[[78915471, 78915608], [78915816, 78915906], [78919074, 78919312], [78936673, 78936788], [78936927, 78937019], [78938654, 78938733], [78940945, 78941015], [78944439, 78944516], [78944884, 78945013], [78952780, 78952824], [78964714, 78964851], [78975401, 78975493], [78977804, 78977884], [78981021, 78981096]]

Promoter

Chrom	Start	End	Description
chr5	78908233	78908316	CAGE_peak_1_at_PAPD4_5end
chr5	78908317	78908341	CAGE_peak_3_at_PAPD4_5end
chr5	78908349	78908360	CAGE_peak_5_at_PAPD4_5end
chr5	78908388	78908406	CAGE_peak_2_at_PAPD4_5end
chr5	78908425	78908436	CAGE_peak_4_at_PAPD4_5end
chr5	78908444	78908451	CAGE_peak_6_at_PAPD4_5end
chr5	78908527	78908536	CAGE_peak_7_at_PAPD4_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr5	GH05I080406	80406401	80410401	2.25	[{'connected_gene': 'ZFYVE16', 'score': 556.66}, {'connected_gene': 'PAPD4', 'score': 19.48}, {'connected_gene': 'FAM151B', 'score': 0.18}]
chr5	GH05I079511	79511200	79515400	2.11	[{'connected_gene': 'HOMER1', 'score': 550.77}, {'connected_gene': 'PAPD4', 'score': 16.67}, {'connected_gene': 'MTX3', 'score': 14.51}, {'connected_gene': 'JMY', 'score': 10.28}, {'connected_gene': 'GC05P079511', 'score': 0.77}]
chr5	GH05I078893	78893423	78894617	0.56	[{'connected_gene': 'DMGDH', 'score': 5.61}, {'connected_gene': 'PAPD4', 'score': 4.32}, {'connected_gene': 'GC05P078984', 'score': 0.16}, {'connected_gene': 'ARSB', 'score': 0.16}, {'connected_gene': 'LHFPL2', 'score': 0.13}]
chr5	GH05I080251	80251315	80259062	2.46	[{'connected_gene': 'SERINC5', 'score': 550.77}, {'connected_gene': 'GC05P080257', 'score': 550.77}, {'connected_gene': 'PAPD4', 'score': 56.54}, {'connected_gene': 'RPS3AP20', 'score': 22.04}, {'connected_gene': 'MTX3', 'score': 12.0}, {'connected_gene': 'ENSG00000251675', 'score': 10.99}, {'connected_gene': 'CTD-2201I18.1', 'score': 10.3}, {'connected_gene': 'THBS4', 'score': 10.28}, {'connected_gene': 'DHFR', 'score': 5.27}, {'connected_gene': 'GC05P080258', 'score': 0.77}, {'connected_gene': 'GC05P080147', 'score': 0.14}]
chr5	GH05I079685	79685998	79686147	0.43	[{'connected_gene': 'CMYA5', 'score': 0.77}, {'connected_gene': 'GC05M079620', 'score': 0.21}, {'connected_gene': 'PAPD4', 'score': 0.19}]
chr5	GH05I079611	79611157	79614665	2.1	[{'connected_gene': 'PAPD4', 'score': 585.5}, {'connected_gene': 'RPS3AP20', 'score': 12.18}, {'connected_gene': 'MTX3', 'score': 11.59}, {'connected_gene': 'CRSP8P', 'score': 11.35}, {'connected_gene': 'GC05M079620', 'score': 0.44}]
chr5	GH05I078756	78756926	78759138	1.39	[{'connected_gene': 'PAPD4', 'score': 27.77}, {'connected_gene': 'RPS3AP20', 'score': 26.63}, {'connected_gene': 'JMY', 'score': 9.77}, {'connected_gene': 'ENSG00000254310', 'score': 0.77}, {'connected_gene': 'LHFPL2', 'score': 0.39}]
chr5	GH05I078675	78675362	78679428	1.33	[{'connected_gene': 'PAPD4', 'score': 12.57}, {'connected_gene': 'RPS3AP20', 'score': 12.42}, {'connected_gene': 'JMY', 'score': 10.79}, {'connected_gene': 'HMGB1P21', 'score': 0.29}, {'connected_gene': 'ENSG00000254170', 'score': 0.28}, {'connected_gene': 'LHFPL2', 'score': 0.16}]
chr5	GH05I078697	78697921	78701395	1.13	[{'connected_gene': 'PAPD4', 'score': 12.57}, {'connected_gene': 'RPS3AP20', 'score': 12.42}, {'connected_gene': 'LHFPL2', 'score': 10.9}, {'connected_gene': 'JMY', 'score': 10.79}, {'connected_gene': 'ENSG00000254170', 'score': 0.37}, {'connected_gene': 'HMGB1P21', 'score': 0.23}]
chr5	GH05I078670	78670754	78672739	0.82	[{'connected_gene': 'PAPD4', 'score': 12.62}, {'connected_gene': 'HMGB1P21', 'score': 0.31}, {'connected_gene': 'ENSG00000254170', 'score': 0.26}, {'connected_gene': 'LHFPL2', 'score': 0.15}]
chr5	GH05I080487	80487108	80490800	2.01	[{'connected_gene': 'LOC105379049', 'score': 550.77}, {'connected_gene': 'FAM151B', 'score': 550.77}, {'connected_gene': 'ZCCHC9', 'score': 25.34}, {'connected_gene': 'PAPD4', 'score': 15.85}, {'connected_gene': 'CKMT2-AS1', 'score': 15.85}, {'connected_gene': 'MTX3', 'score': 10.47}, {'connected_gene': 'ZFYVE16', 'score': 6.07}, {'connected_gene': 'DHFR', 'score': 5.33}, {'connected_gene': 'RPS27AP9', 'score': 0.39}]
chr5	GH05I079546	79546840	79548676	1.17	[{'connected_gene': 'LOC105379047', 'score': 550.77}, {'connected_gene': 'HOMER1', 'score': 5.52}, {'connected_gene': 'PAPD4', 'score': 5.43}, {'connected_gene': 'CMYA5', 'score': 2.64}, {'connected_gene': 'ENSG00000277818', 'score': 0.37}]
chr5	GH05I079801	79801001	79801400	0.72	[{'connected_gene': 'LOC102724557', 'score': 550.77}, {'connected_gene': 'ENSG00000250258', 'score': 18.58}, {'connected_gene': 'MTX3', 'score': 16.54}, {'connected_gene': 'PAPD4', 'score': 12.63}, {'connected_gene': 'RPS3AP20', 'score': 12.42}, {'connected_gene': 'JMY', 'score': 10.79}, {'connected_gene': 'CMYA5', 'score': 10.21}, {'connected_gene': 'GC05P079745', 'score': 0.22}]
chr5	GH05I079560	79560749	79561954	1.15	[{'connected_gene': 'ENSG00000277818', 'score': 550.77}, {'connected_gene': 'CMYA5', 'score': 14.85}, {'connected_gene': 'HOMER1', 'score': 10.6}, {'connected_gene': 'ENSG00000250258', 'score': 9.81}, {'connected_gene': 'THBS4', 'score': 9.46}, {'connected_gene': 'CTD-2201I18.1', 'score': 9.45}, {'connected_gene': 'PAPD4', 'score': 4.18}, {'connected_gene': 'LOC105379047', 'score': 0.39}]
chr5	GH05I079621	79621198	79621347	0.38	[{'connected_gene': 'GC05M079620', 'score': 550.77}, {'connected_gene': 'PAPD4', 'score': 0.44}, {'connected_gene': 'CMYA5', 'score': 0.2}]
chr5	GH05I079578	79578998	79579147	0.57	[{'connected_gene': 'ENSG00000277818', 'score': 0.37}, {'connected_gene': 'LOC105379047', 'score': 0.29}, {'connected_gene': 'PAPD4', 'score': 0.29}]