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
ENST00000266383	[[569529, 569711], [644331, 644435], [645383, 645461], [653504, 653600], [654047, 654138], [654534, 654635], [655811, 655879], [657189, 657268], [657396, 657463], [658934, 659078], [660087, 660197], [661228, 661329], [661632, 661694], [662359, 663149], [665712, 666032], [666773, 666927], [667181, 667254], [667673, 667827], [668460, 668587], [670508, 672675]]	[[569542, 569711], [644331, 644435], [645383, 645461], [653504, 653600], [654047, 654138], [654534, 654635], [655811, 655879], [657189, 657268], [657396, 657463], [658934, 659078], [660087, 660197], [661228, 661329], [661632, 661694], [662359, 663149], [665712, 666032], [666773, 666927], [667181, 667254], [667673, 667827], [668460, 668587], [670508, 670617]]
ENST00000535680	[[569635, 569711], [644331, 644435], [645383, 645461], [653504, 653600], [654047, 654138], [654534, 654635], [655811, 655994]]	None
ENST00000544638	[[649628, 649675], [653504, 653600], [654047, 654138], [654534, 654635], [655811, 655879], [657189, 657268], [657396, 657467]]	None
ENST00000322843	[[652298, 652371], [653504, 653600], [654047, 654138], [654534, 654635], [655811, 655879], [657189, 657268], [657396, 657463], [658934, 659078], [660087, 660197], [661228, 661329], [661632, 661694], [662356, 663149], [664455, 664596]]	[[652314, 652371], [653504, 653600], [654047, 654138], [654534, 654635], [655811, 655879], [657189, 657268], [657396, 657463], [658934, 659078], [660087, 660197], [661228, 661329], [661632, 661694], [662356, 663149], [664455, 664596]]
ENST00000540836	[[652283, 652371], [653504, 653600], [654047, 654138], [654305, 654570]]	None
ENST00000535402	[[661240, 661329], [661632, 663149], [665712, 666032], [666773, 666927], [667181, 667254], [667673, 667827], [668460, 668587], [670508, 672664]]	None
NM_173593	[[569542, 569711], [644331, 644435], [645383, 645461], [653504, 653600], [654047, 654138], [654534, 654635], [655811, 655879], [657189, 657268], [657396, 657463], [658934, 659078], [660087, 660197], [661228, 661329], [661632, 661694], [662359, 663149], [665712, 666032], [666773, 666927], [667181, 667254], [667673, 667827], [668460, 668587], [670508, 671058]]	[[569542, 569711], [644331, 644435], [645383, 645461], [653504, 653600], [654047, 654138], [654534, 654635], [655811, 655879], [657189, 657268], [657396, 657463], [658934, 659078], [660087, 660197], [661228, 661329], [661632, 661694], [662359, 663149], [665712, 666032], [666773, 666927], [667181, 667254], [667673, 667827], [668460, 668587], [670508, 670617]]

Promoter

Chrom	Start	End	Description
chr12	569091	569155	CAGE_peak_1_at_B4GALNT3_5end
chr12	569287	569336	CAGE_peak_2_at_B4GALNT3_5end
chr12	569345	569365	CAGE_peak_3_at_B4GALNT3_5end
chr12	652294	652303	CAGE_peak_7_at_B4GALNT3_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr12	GH12I000406	406166	409490	1.55	[{'connected_gene': 'CCDC77', 'score': 18.58}, {'connected_gene': 'RAD52', 'score': 14.17}, {'connected_gene': 'B4GALNT3', 'score': 11.71}, {'connected_gene': 'SLC6A13', 'score': 10.68}, {'connected_gene': 'LOC102723544', 'score': 10.68}, {'connected_gene': 'LOC105369594', 'score': 0.44}, {'connected_gene': 'PIR37877', 'score': 0.37}]
chr12	GH12I000512	512941	514041	0.82	[{'connected_gene': 'KDM5A', 'score': 11.91}, {'connected_gene': 'B4GALNT3', 'score': 10.82}, {'connected_gene': 'GC12P000516', 'score': 0.77}, {'connected_gene': 'GC12M000504', 'score': 0.44}, {'connected_gene': 'GC12P000495', 'score': 0.37}]
chr12	GH12I000532	532020	533940	0.58	[{'connected_gene': 'B4GALNT3', 'score': 26.78}, {'connected_gene': 'SLC6A13', 'score': 10.36}, {'connected_gene': 'SLC6A12', 'score': 10.35}, {'connected_gene': 'LOC100049716', 'score': 4.93}, {'connected_gene': 'GC12M000504', 'score': 0.39}, {'connected_gene': 'PIR41391', 'score': 0.37}]
chr12	GH12I000536	536483	536949	0.2	[{'connected_gene': 'B4GALNT3', 'score': 28.23}, {'connected_gene': 'SLC6A13', 'score': 10.36}, {'connected_gene': 'SLC6A12', 'score': 10.35}, {'connected_gene': 'PIR41391', 'score': 0.39}, {'connected_gene': 'GC12M000504', 'score': 0.37}]
chr12	GH12I000537	537317	540461	1.3	[{'connected_gene': 'B4GALNT3', 'score': 22.28}, {'connected_gene': 'SLC6A12', 'score': 14.8}, {'connected_gene': 'ERC1', 'score': 2.16}, {'connected_gene': 'PIR41391', 'score': 0.39}, {'connected_gene': 'GC12M000504', 'score': 0.37}]
chr12	GH12I000488	488145	488512	0.76	[{'connected_gene': 'B4GALNT3', 'score': 11.81}, {'connected_gene': 'NINJ2', 'score': 1.99}, {'connected_gene': 'GC12P000495', 'score': 0.44}, {'connected_gene': 'PIR35231', 'score': 0.34}]
chr12	GH12I000466	466750	468123	0.31	[{'connected_gene': 'B4GALNT3', 'score': 30.64}, {'connected_gene': 'PIR35231', 'score': 0.77}, {'connected_gene': 'GC12P000495', 'score': 0.31}]
chr12	GH12I000546	546180	547400	1.25	[{'connected_gene': 'B4GALNT3', 'score': 23.96}, {'connected_gene': 'PIR41391', 'score': 0.77}, {'connected_gene': 'GC12M000504', 'score': 0.31}]
chr12	GH12I000501	501382	504755	1.06	[{'connected_gene': 'B4GALNT3', 'score': 6.35}, {'connected_gene': 'GC12P000495', 'score': 0.44}, {'connected_gene': 'GC12P000516', 'score': 0.39}]
chr12	GH12I000508	508589	511207	1.04	[{'connected_gene': 'B4GALNT3', 'score': 13.68}, {'connected_gene': 'GC12P000516', 'score': 0.44}, {'connected_gene': 'GC12M000504', 'score': 0.39}, {'connected_gene': 'GC12P000495', 'score': 0.39}]
chr12	GH12I000476	476899	477712	0.2	[{'connected_gene': 'B4GALNT3', 'score': 28.08}, {'connected_gene': 'PIR35231', 'score': 0.39}, {'connected_gene': 'GC12P000495', 'score': 0.37}]
chr12	GH12I000469	469898	470752	0.2	[{'connected_gene': 'B4GALNT3', 'score': 0.44}, {'connected_gene': 'PIR35231', 'score': 0.44}, {'connected_gene': 'GC12P000495', 'score': 0.34}]
chr12	GH12I000475	475004	476633	0.31	[{'connected_gene': 'B4GALNT3', 'score': 18.46}, {'connected_gene': 'PIR35231', 'score': 0.39}, {'connected_gene': 'GC12P000495', 'score': 0.37}]
chr12	GH12I000478	478621	479987	0.2	[{'connected_gene': 'B4GALNT3', 'score': 37.71}, {'connected_gene': 'PIR35231', 'score': 0.39}, {'connected_gene': 'GC12P000495', 'score': 0.37}]
chr12	GH12I000459	459301	461001	2.01	[{'connected_gene': 'B4GALNT3', 'score': 558.71}, {'connected_gene': 'GC12P000462', 'score': 550.77}, {'connected_gene': 'GC12M000442', 'score': 550.77}]
chr12	GH12I000468	468463	469584	0.92	[{'connected_gene': 'B4GALNT3', 'score': 31.15}, {'connected_gene': 'PIR35231', 'score': 0.77}, {'connected_gene': 'GC12P000495', 'score': 0.31}]
chr12	GH12I000480	480314	482204	1.06	[{'connected_gene': 'B4GALNT3', 'score': 43.18}, {'connected_gene': 'GC12P000495', 'score': 0.39}, {'connected_gene': 'PIR35231', 'score': 0.37}]
chr12	GH12I000527	527120	527901	0.38	[{'connected_gene': 'B4GALNT3', 'score': 12.07}, {'connected_gene': 'GC12M000504', 'score': 0.44}, {'connected_gene': 'PIR41391', 'score': 0.34}]
chr12	GH12I000530	530021	531369	0.58	[{'connected_gene': 'B4GALNT3', 'score': 20.05}, {'connected_gene': 'GC12M000504', 'score': 0.44}, {'connected_gene': 'PIR41391', 'score': 0.37}]
chr12	GH12I000524	524233	524782	0.64	[{'connected_gene': 'B4GALNT3', 'score': 12.41}, {'connected_gene': 'ENSG00000250132', 'score': 4.61}, {'connected_gene': 'GC12M000504', 'score': 0.77}, {'connected_gene': 'PIR41391', 'score': 0.31}]
chr12	GH12I000541	541400	543246	0.99	[{'connected_gene': 'B4GALNT3', 'score': 23.39}, {'connected_gene': 'PIR41391', 'score': 0.44}, {'connected_gene': 'GC12M000504', 'score': 0.34}]
chr12	GH12I000484	484800	485415	0.2	[{'connected_gene': 'B4GALNT3', 'score': 32.93}, {'connected_gene': 'GC12P000495', 'score': 0.39}, {'connected_gene': 'PIR35231', 'score': 0.34}]
chr12	GH12I000553	553236	554400	0.83	[{'connected_gene': 'B4GALNT3', 'score': 69.12}, {'connected_gene': 'PIR41391', 'score': 0.77}, {'connected_gene': 'GC12M000554', 'score': 0.37}]
chr12	GH12I000485	484062	484542	0.62	[{'connected_gene': 'B4GALNT3', 'score': 12.21}, {'connected_gene': 'GC12P000495', 'score': 0.39}, {'connected_gene': 'PIR35231', 'score': 0.37}]
chr12	GH12I000461	461239	462069	0.76	[{'connected_gene': 'B4GALNT3', 'score': 558.63}, {'connected_gene': 'GC12P000462', 'score': 550.77}]
chr12	GH12I000716	716221	717374	1.24	[{'connected_gene': 'LINC02455', 'score': 550.77}, {'connected_gene': 'WNK1', 'score': 12.97}, {'connected_gene': 'NINJ2', 'score': 12.38}, {'connected_gene': 'RNU4ATAC16P', 'score': 11.47}, {'connected_gene': 'B4GALNT3', 'score': 2.4}]
chr12	GH12I000560	560563	565316	1.07	[{'connected_gene': 'LOC100049716', 'score': 9.34}, {'connected_gene': 'NINJ2', 'score': 5.97}, {'connected_gene': 'LOC105369595', 'score': 4.67}, {'connected_gene': 'B4GALNT3', 'score': 4.52}, {'connected_gene': 'GC12M000554', 'score': 0.44}, {'connected_gene': 'PIR41391', 'score': 0.39}]
chr12	GH12I000464	464588	466370	1.07	[{'connected_gene': 'PIR35231', 'score': 550.77}, {'connected_gene': 'B4GALNT3', 'score': 28.54}, {'connected_gene': 'CCDC77', 'score': 5.91}, {'connected_gene': 'GC12P000495', 'score': 0.31}]
chr12	GH12I000496	496621	497170	0.38	[{'connected_gene': 'GC12P000495', 'score': 550.77}, {'connected_gene': 'B4GALNT3', 'score': 9.38}, {'connected_gene': 'GC12P000516', 'score': 0.37}]
chr12	GH12I000498	498552	500918	0.31	[{'connected_gene': 'GC12P000495', 'score': 0.77}, {'connected_gene': 'GC12P000516', 'score': 0.37}, {'connected_gene': 'B4GALNT3', 'score': 0.28}]
chr12	GH12I000545	545128	545667	0.43	[{'connected_gene': 'PIR41391', 'score': 0.77}, {'connected_gene': 'GC12M000504', 'score': 0.34}, {'connected_gene': 'B4GALNT3', 'score': 0.17}]
chr12	GH12I000493	493972	495908	0.31	[{'connected_gene': 'GC12P000495', 'score': 550.77}, {'connected_gene': 'B4GALNT3', 'score': 5.78}, {'connected_gene': 'PIR35231', 'score': 0.29}]
chr12	GH12I000505	505094	505909	0.2	[{'connected_gene': 'GC12P000516', 'score': 0.39}, {'connected_gene': 'GC12P000495', 'score': 0.39}, {'connected_gene': 'GC12M000504', 'score': 0.37}, {'connected_gene': 'B4GALNT3', 'score': 0.25}]
chr12	GH12I000473	473410	474569	0.4	[{'connected_gene': 'PIR35231', 'score': 0.44}, {'connected_gene': 'B4GALNT3', 'score': 0.39}, {'connected_gene': 'GC12P000495', 'score': 0.34}]
chr12	GH12I000507	507317	508033	0.4	[{'connected_gene': 'GC12P000516', 'score': 0.44}, {'connected_gene': 'GC12M000504', 'score': 0.39}, {'connected_gene': 'GC12P000495', 'score': 0.39}, {'connected_gene': 'B4GALNT3', 'score': 0.25}]
chr12	GH12I000548	548783	550061	0.2	[{'connected_gene': 'PIR41391', 'score': 550.77}, {'connected_gene': 'B4GALNT3', 'score': 48.43}, {'connected_gene': 'GC12M000504', 'score': 0.31}]
chr12	GH12I000463	463864	464405	0.31	[{'connected_gene': 'PIR35231', 'score': 550.77}, {'connected_gene': 'B4GALNT3', 'score': 10.01}, {'connected_gene': 'GC12P000462', 'score': 0.77}]
chr12	GH12I000465	463395	463544	0.69	[{'connected_gene': 'GC12P000462', 'score': 550.77}, {'connected_gene': 'PIR35231', 'score': 550.77}, {'connected_gene': 'B4GALNT3', 'score': 0.77}]
chr12	GH12I000521	521456	522317	0.2	[{'connected_gene': 'GC12M000504', 'score': 550.77}, {'connected_gene': 'B4GALNT3', 'score': 7.35}, {'connected_gene': 'PIR41391', 'score': 0.31}]
chr12	GH12I000497	497535	497684	0.4	[{'connected_gene': 'GC12P000495', 'score': 0.77}, {'connected_gene': 'GC12P000516', 'score': 0.37}, {'connected_gene': 'B4GALNT3', 'score': 0.28}]