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
ENST00000245206	[[58741034, 58742197], [58743320, 58743471], [58749917, 58750083], [58750566, 58750717], [58752099, 58752204], [58752430, 58752592], [58753099, 58753159], [58756053, 58756182], [58757649, 58757806], [58768043, 58768261]]	[[58742074, 58742197], [58743320, 58743471], [58749917, 58750083], [58750566, 58750717], [58752099, 58752204], [58752430, 58752592], [58753099, 58753159], [58756053, 58756182], [58757649, 58757806], [58768043, 58768132]]
ENST00000434819	[[58741721, 58742197], [58743320, 58743471], [58749917, 58750083], [58750566, 58750717], [58752099, 58752204], [58752430, 58752592], [58753099, 58753159], [58757649, 58757806], [58768043, 58768230]]	[[58742074, 58742197], [58743320, 58743471], [58749917, 58750083], [58750566, 58750717], [58752099, 58752204], [58752430, 58752592], [58753099, 58753159], [58757649, 58757806], [58768043, 58768132]]
ENST00000494627	[[58742952, 58743471], [58749917, 58750287]]	None
ENST00000564400	[[58749916, 58750083], [58752099, 58752204], [58752430, 58752592], [58753099, 58753159], [58756053, 58756182], [58757649, 58757806], [58768043, 58768246]]	None
ENST00000496461	[[58752120, 58752592], [58753099, 58753159], [58756053, 58756182], [58757649, 58757806], [58768043, 58768206]]	None
ENST00000568368	[[58752473, 58752592], [58753099, 58753159], [58756022, 58756182], [58768043, 58768220]]	[[58756091, 58756182], [58768043, 58768132]]
ENST00000492378	[[58755548, 58756182], [58757649, 58757806], [58768043, 58768239]]	None
NM_002080	[[58741034, 58742197], [58743320, 58743471], [58749917, 58750083], [58750566, 58750717], [58752099, 58752204], [58752430, 58752592], [58753099, 58753159], [58756053, 58756182], [58757649, 58757806], [58768043, 58768261]]	[[58742074, 58742197], [58743320, 58743471], [58749917, 58750083], [58750566, 58750717], [58752099, 58752204], [58752430, 58752592], [58753099, 58753159], [58756053, 58756182], [58757649, 58757806], [58768043, 58768132]]
NM_001286220	[[58741034, 58742197], [58743320, 58743471], [58749917, 58750083], [58750566, 58750717], [58752099, 58752204], [58752430, 58752592], [58753099, 58753159], [58757649, 58757806], [58768043, 58768261]]	[[58742074, 58742197], [58743320, 58743471], [58749917, 58750083], [58750566, 58750717], [58752099, 58752204], [58752430, 58752592], [58753099, 58753159], [58757649, 58757806], [58768043, 58768132]]

Promoter

Chrom	Start	End	Description
chr16	58768084	58768094	CAGE_peak_3_at_GOT2_5end
chr16	58768148	58768173	CAGE_peak_2_at_GOT2_5end
chr16	58768177	58768264	CAGE_peak_1_at_GOT2_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr16	GH16I058514	58514301	58516758	2.04	[{'connected_gene': 'SETD6', 'score': 563.72}, {'connected_gene': 'GC16M058514', 'score': 550.77}, {'connected_gene': 'GC16M058513', 'score': 550.77}, {'connected_gene': 'PIR59635', 'score': 550.77}, {'connected_gene': 'CNOT1', 'score': 11.33}, {'connected_gene': 'SNORA46', 'score': 11.0}, {'connected_gene': 'GOT2', 'score': 10.78}, {'connected_gene': 'GINS3', 'score': 10.13}]
chr16	GH16I058417	58417543	58417926	0.65	[{'connected_gene': 'GINS3', 'score': 11.71}, {'connected_gene': 'NDRG4', 'score': 1.49}, {'connected_gene': 'GOT2', 'score': 1.38}, {'connected_gene': 'LINC02137', 'score': 0.77}, {'connected_gene': 'GC16P058413', 'score': 0.77}]
chr16	GH16I058683	58683687	58685386	1.99	[{'connected_gene': 'SLC38A7', 'score': 556.99}, {'connected_gene': 'CNOT1', 'score': 11.97}, {'connected_gene': 'SETD6', 'score': 11.8}, {'connected_gene': 'GOT2', 'score': 11.46}, {'connected_gene': 'ENSG00000245768', 'score': 10.93}, {'connected_gene': 'RNU6-1155P', 'score': 10.9}]
chr16	GH16I058656	58656191	58657552	0.2	[{'connected_gene': 'GOT2', 'score': 10.8}, {'connected_gene': 'GINS3', 'score': 9.81}, {'connected_gene': 'SLC38A7', 'score': 5.75}, {'connected_gene': 'CNOT1', 'score': 4.83}]
chr16	GH16I058649	58649620	58650289	0.31	[{'connected_gene': 'GOT2', 'score': 15.32}, {'connected_gene': 'GINS3', 'score': 9.81}, {'connected_gene': 'CNOT1', 'score': 0.34}, {'connected_gene': 'SLC38A7', 'score': 0.28}]
chr16	GH16I058652	58652837	58653026	0.8	[{'connected_gene': 'GOT2', 'score': 10.79}, {'connected_gene': 'GINS3', 'score': 9.81}, {'connected_gene': 'CNOT1', 'score': 0.34}, {'connected_gene': 'SLC38A7', 'score': 0.29}]
chr16	GH16I058654	58654351	58655766	0.68	[{'connected_gene': 'GOT2', 'score': 16.06}, {'connected_gene': 'GINS3', 'score': 9.81}, {'connected_gene': 'CNOT1', 'score': 0.31}, {'connected_gene': 'SLC38A7', 'score': 0.29}]
chr16	GH16I058755	58755570	58757146	1.01	[{'connected_gene': 'GOT2', 'score': 22.0}, {'connected_gene': 'SLC38A7', 'score': 7.33}, {'connected_gene': 'RNU6-1155P', 'score': 0.39}, {'connected_gene': 'RN7SL143P', 'score': 0.39}, {'connected_gene': 'GC16M058744', 'score': 0.39}, {'connected_gene': 'ENSG00000245768', 'score': 0.34}]
chr16	GH16I058645	58645561	58646427	0.31	[{'connected_gene': 'GOT2', 'score': 5.03}, {'connected_gene': 'CNOT1', 'score': 0.37}, {'connected_gene': 'SLC38A7', 'score': 0.28}]
chr16	GH16I058731	58731786	58735101	2.08	[{'connected_gene': 'GOT2', 'score': 572.58}, {'connected_gene': 'GC16M058732', 'score': 550.77}, {'connected_gene': 'ENSG00000245768', 'score': 550.77}, {'connected_gene': 'CNOT1', 'score': 16.13}, {'connected_gene': 'CSNK2A2', 'score': 12.03}, {'connected_gene': 'LOC101927556', 'score': 9.73}, {'connected_gene': 'SLC38A7', 'score': 4.42}]
chr16	GH16I058511	58511997	58512166	1.01	[{'connected_gene': 'CNOT1', 'score': 22.2}, {'connected_gene': 'SNORA46', 'score': 10.98}, {'connected_gene': 'GOT2', 'score': 10.78}, {'connected_gene': 'GINS3', 'score': 10.13}, {'connected_gene': 'GC16M058513', 'score': 0.77}, {'connected_gene': 'PIR50383', 'score': 0.77}, {'connected_gene': 'NDRG4', 'score': 0.25}]
chr16	GH16I058512	58512177	58512206	1	[{'connected_gene': 'CNOT1', 'score': 22.2}, {'connected_gene': 'SNORA46', 'score': 10.98}, {'connected_gene': 'GOT2', 'score': 10.78}, {'connected_gene': 'GINS3', 'score': 10.13}, {'connected_gene': 'GC16M058513', 'score': 0.77}, {'connected_gene': 'PIR50383', 'score': 0.77}, {'connected_gene': 'NDRG4', 'score': 0.25}]
chr16	GH16I058728	58728997	58729146	0.31	[{'connected_gene': 'RNY5P9', 'score': 550.77}, {'connected_gene': 'GC16M058732', 'score': 0.77}, {'connected_gene': 'GOT2', 'score': 0.44}]