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
ENST00000565094	[[73945188, 73945547], [73958459, 73958484]]	None
ENST00000553558	[[73945190, 73945547], [73959769, 73959828], [73961931, 73962091], [73963304, 73963383], [73964858, 73965048], [73965774, 73965844], [73967253, 73967434], [73969598, 73969717], [73973170, 73973275], [73974837, 73974998], [73976015, 73976177], [73978709, 73978853], [73980734, 73980938], [73985726, 73985867], [73987555, 73987743], [73988975, 73989928], [73996869, 73996948], [74025454, 74025625]]	[[73945310, 73945547], [73959769, 73959828], [73961931, 73962091], [73963304, 73963383], [73964858, 73965048], [73965774, 73965844], [73967253, 73967434], [73969598, 73969717], [73973170, 73973275], [73974837, 73974998], [73976015, 73976177], [73978709, 73978853], [73980734, 73980938], [73985726, 73985867], [73987555, 73987743], [73988975, 73989856]]
ENST00000334988	[[73945191, 73945547], [73959769, 73959828], [73961931, 73962091], [73963304, 73963383], [73964858, 73965048], [73965774, 73965844], [73967253, 73967434], [73969598, 73969717], [73973170, 73973275], [73974837, 73974998], [73976015, 73976177], [73978709, 73978853], [73980734, 73980938], [73985726, 73985867], [73987555, 73987743], [73988975, 73989928], [74025454, 74025651]]	[[73945310, 73945547], [73959769, 73959828], [73961931, 73962091], [73963304, 73963383], [73964858, 73965048], [73965774, 73965844], [73967253, 73967434], [73969598, 73969717], [73973170, 73973275], [73974837, 73974998], [73976015, 73976177], [73978709, 73978853], [73980734, 73980938], [73985726, 73985867], [73987555, 73987743], [73988975, 73989856]]
ENST00000566478	[[73945193, 73945547], [73947576, 73947627]]	None
ENST00000560393	[[73945195, 73945547], [73959769, 73959828], [73961931, 73962091], [73963304, 73963383], [73964858, 73965048], [73965774, 73965844], [73967253, 73967434], [73969598, 73969717], [73973170, 73973275], [73974837, 73974998], [73976015, 73976177], [73978709, 73978853], [73980734, 73980938], [73985726, 73985867], [73987555, 73987743], [73988975, 73989928], [74025454, 74025651]]	[[73945310, 73945547], [73959769, 73959828], [73961931, 73962091], [73963304, 73963383], [73964858, 73965048], [73965774, 73965844], [73967253, 73967434], [73969598, 73969717], [73973170, 73973275], [73974837, 73974998], [73976015, 73976177], [73978709, 73978853], [73980734, 73980938], [73985726, 73985867], [73987555, 73987743], [73988975, 73989715]]
ENST00000556455	[[73989283, 73989928], [73997737, 73997916]]	[[73989283, 73989856]]
ENST00000557603	[[73989739, 73989928], [73995656, 73995890], [73997772, 73997901]]	[[73989739, 73989856]]
ENST00000563329	[[73989748, 73989928], [73993932, 73994101], [73996869, 73996948], [74025454, 74025649]]	[[73989748, 73989856]]
NM_001220484	[[73945188, 73945547], [73959769, 73959828], [73961931, 73962091], [73963304, 73963383], [73964858, 73965048], [73965774, 73965844], [73967253, 73967434], [73969598, 73969717], [73973170, 73973275], [73974837, 73974998], [73976015, 73976177], [73978709, 73978853], [73980734, 73980938], [73985726, 73985867], [73987555, 73987743], [73988975, 73989928], [73996869, 73996948], [74025454, 74025651]]	[[73945310, 73945547], [73959769, 73959828], [73961931, 73962091], [73963304, 73963383], [73964858, 73965048], [73965774, 73965844], [73967253, 73967434], [73969598, 73969717], [73973170, 73973275], [73974837, 73974998], [73976015, 73976177], [73978709, 73978853], [73980734, 73980938], [73985726, 73985867], [73987555, 73987743], [73988975, 73989856]]
NM_203309	[[73945188, 73945547], [73959769, 73959828], [73961931, 73962091], [73963304, 73963383], [73964858, 73965048], [73965774, 73965844], [73967253, 73967434], [73969598, 73969717], [73973170, 73973275], [73974837, 73974998], [73976015, 73976177], [73978709, 73978853], [73980734, 73980938], [73985726, 73985867], [73987555, 73987743], [73988975, 73989928], [74025454, 74025651]]	[[73945310, 73945547], [73959769, 73959828], [73961931, 73962091], [73963304, 73963383], [73964858, 73965048], [73965774, 73965844], [73967253, 73967434], [73969598, 73969717], [73973170, 73973275], [73974837, 73974998], [73976015, 73976177], [73978709, 73978853], [73980734, 73980938], [73985726, 73985867], [73987555, 73987743], [73988975, 73989856]]

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr14	GH14I073711	73711947	73715702	2.19	[{'connected_gene': 'PNMA1', 'score': 562.22}, {'connected_gene': 'PIR61365', 'score': 550.77}, {'connected_gene': 'RBM25', 'score': 18.5}, {'connected_gene': 'ENSG00000258559', 'score': 18.23}, {'connected_gene': 'ABCD4', 'score': 16.54}, {'connected_gene': 'ELMSAN1', 'score': 10.05}, {'connected_gene': 'LOC100506476', 'score': 7.32}, {'connected_gene': 'HEATR4', 'score': 7.23}, {'connected_gene': 'GC14P073713', 'score': 0.77}]
chr14	GH14I073464	73464488	73469912	1.38	[{'connected_gene': 'NUMB', 'score': 38.65}, {'connected_gene': 'PSEN1', 'score': 23.63}, {'connected_gene': 'ACOT1', 'score': 12.1}, {'connected_gene': 'HEATR4', 'score': 6.21}, {'connected_gene': 'LOC101928123', 'score': 5.02}, {'connected_gene': 'ENSG00000258695', 'score': 4.85}, {'connected_gene': 'DCAF4', 'score': 4.7}, {'connected_gene': 'ZNF410', 'score': 4.1}, {'connected_gene': 'ZFYVE1', 'score': 3.21}, {'connected_gene': 'RBM25', 'score': 2.18}, {'connected_gene': 'ELMSAN1', 'score': 2.17}, {'connected_gene': 'GC14M073418', 'score': 0.77}, {'connected_gene': 'ENSG00000251393', 'score': 0.77}, {'connected_gene': 'RIOX1', 'score': 0.34}]
chr14	GH14I073422	73422298	73423254	0.76	[{'connected_gene': 'NUMB', 'score': 15.72}, {'connected_gene': 'RNU6-419P', 'score': 10.73}, {'connected_gene': 'ENSG00000251393', 'score': 10.59}, {'connected_gene': 'NT5CP2', 'score': 5.97}, {'connected_gene': 'LOC101928123', 'score': 5.69}, {'connected_gene': 'HEATR4', 'score': 4.8}, {'connected_gene': 'GC14P073395', 'score': 0.31}, {'connected_gene': 'GC14M073418', 'score': 0.26}]
chr14	GH14I073477	73477400	73478768	1.22	[{'connected_gene': 'NUMB', 'score': 9.76}, {'connected_gene': 'LOC100506476', 'score': 5.5}, {'connected_gene': 'DNAL1', 'score': 4.88}, {'connected_gene': 'RIOX1', 'score': 0.39}, {'connected_gene': 'GC14M073418', 'score': 0.39}, {'connected_gene': 'HEATR4', 'score': 0.18}]
chr14	GH14I073489	73489876	73490065	0.38	[{'connected_gene': 'RIOX1', 'score': 550.77}, {'connected_gene': 'GC14P073495', 'score': 550.77}, {'connected_gene': 'PIR46009', 'score': 550.77}, {'connected_gene': 'GC14M073418', 'score': 0.31}, {'connected_gene': 'HEATR4', 'score': 0.2}]
chr14	GH14I073485	73485228	73485380	0.22	[{'connected_gene': 'RIOX1', 'score': 0.44}, {'connected_gene': 'GC14M073418', 'score': 0.34}, {'connected_gene': 'HEATR4', 'score': 0.19}]
chr14	GH14I073476	73476193	73476998	0.38	[{'connected_gene': 'ACOT1', 'score': 10.87}, {'connected_gene': 'NUMB', 'score': 10.22}, {'connected_gene': 'HEATR4', 'score': 6.63}, {'connected_gene': 'RIOX1', 'score': 0.39}, {'connected_gene': 'GC14M073418', 'score': 0.39}, {'connected_gene': 'ENSG00000251393', 'score': 0.39}]
chr14	GH14I073490	73490136	73492665	2.04	[{'connected_gene': 'ACOT1', 'score': 566.02}, {'connected_gene': 'RIOX1', 'score': 550.77}, {'connected_gene': 'GC14P073495', 'score': 550.77}, {'connected_gene': 'PIR46009', 'score': 550.77}, {'connected_gene': 'ENSG00000258695', 'score': 6.65}, {'connected_gene': 'NUMB', 'score': 4.52}, {'connected_gene': 'HEATR4', 'score': 0.2}]
chr14	GH14I073525	73525504	73527306	0.74	[{'connected_gene': 'ACOT1', 'score': 15.51}, {'connected_gene': 'NT5CP2', 'score': 9.52}, {'connected_gene': 'PNMA1', 'score': 9.39}, {'connected_gene': 'HEATR4', 'score': 5.42}, {'connected_gene': 'ACOT2', 'score': 4.97}, {'connected_gene': 'ENSG00000258695', 'score': 0.77}, {'connected_gene': 'GC14M073540', 'score': 0.39}]
chr14	GH14I073536	73536360	73539837	2.1	[{'connected_gene': 'ACOT1', 'score': 558.57}, {'connected_gene': 'NT5CP2', 'score': 550.77}, {'connected_gene': 'GC14M073540', 'score': 550.77}, {'connected_gene': 'ACOT2', 'score': 7.12}, {'connected_gene': 'BBOF1', 'score': 5.57}, {'connected_gene': 'ENSG00000258695', 'score': 0.37}, {'connected_gene': 'HEATR4', 'score': 0.34}]
chr14	GH14I073558	73558937	73558996	0.61	[{'connected_gene': 'HEATR4', 'score': 550.77}, {'connected_gene': 'GC14M073564', 'score': 0.44}]
chr14	GH14I072924	72924453	72928033	2.03	[{'connected_gene': 'DCAF4', 'score': 586.33}, {'connected_gene': 'LOC100420966', 'score': 26.56}, {'connected_gene': 'ZNF410', 'score': 21.71}, {'connected_gene': 'PSEN1', 'score': 11.72}, {'connected_gene': 'LOC101928123', 'score': 11.68}, {'connected_gene': 'RBM25', 'score': 10.97}, {'connected_gene': 'ELMSAN1', 'score': 10.09}, {'connected_gene': 'ZFYVE1', 'score': 6.0}, {'connected_gene': 'HEATR4', 'score': 4.65}, {'connected_gene': 'DPF3', 'score': 0.29}]
chr14	GH14I073566	73566401	73567000	0.38	[{'connected_gene': 'ACOT2', 'score': 571.72}, {'connected_gene': 'GC14M073564', 'score': 550.77}, {'connected_gene': 'ENSG00000258695', 'score': 13.05}, {'connected_gene': 'LOC100506476', 'score': 10.53}, {'connected_gene': 'HEATR4', 'score': 0.44}]
chr14	GH14I073426	73426291	73428801	1.03	[{'connected_gene': 'ENSG00000258944', 'score': 11.18}, {'connected_gene': 'NUMB', 'score': 4.92}, {'connected_gene': 'HEATR4', 'score': 4.57}, {'connected_gene': 'GC14P073395', 'score': 0.29}, {'connected_gene': 'ENSG00000251393', 'score': 0.29}, {'connected_gene': 'GC14M073418', 'score': 0.28}]
chr14	GH14I073507	73507237	73507657	0.2	[{'connected_gene': 'ENSG00000258695', 'score': 5.43}, {'connected_gene': 'GC14P073510', 'score': 0.77}, {'connected_gene': 'ACOT1', 'score': 0.39}, {'connected_gene': 'HEATR4', 'score': 0.23}]
chr14	GH14I073632	73632991	73635012	1.35	[{'connected_gene': 'ENSG00000258603', 'score': 550.77}, {'connected_gene': 'ENSG00000258559', 'score': 16.31}, {'connected_gene': 'ABCD4', 'score': 13.6}, {'connected_gene': 'RBM25', 'score': 11.2}, {'connected_gene': 'PNMA1', 'score': 10.54}, {'connected_gene': 'PTGR2', 'score': 10.42}, {'connected_gene': 'ENSG00000223300', 'score': 10.42}, {'connected_gene': 'HEATR4', 'score': 9.14}, {'connected_gene': 'LOC100506476', 'score': 8.58}, {'connected_gene': 'DNAL1', 'score': 0.39}]
chr14	GH14I073452	73452001	73453463	1.04	[{'connected_gene': 'ENSG00000258944', 'score': 13.7}, {'connected_gene': 'HEATR4', 'score': 4.66}, {'connected_gene': 'ENSG00000251393', 'score': 0.44}, {'connected_gene': 'NUMB', 'score': 0.39}, {'connected_gene': 'GC14M073418', 'score': 0.39}, {'connected_gene': 'GC14P073395', 'score': 0.22}]
chr14	GH14I073562	73562777	73562926	0.64	[{'connected_gene': 'GC14M073564', 'score': 0.77}, {'connected_gene': 'HEATR4', 'score': 0.77}]