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
ENST00000524240	[[21547914, 21550912], [21551975, 21552029], [21560316, 21560489], [21562496, 21562637], [21563443, 21563553], [21608099, 21608454], [21632483, 21632567], [21640096, 21640411], [21645631, 21646322]]	[[21550789, 21550912], [21551975, 21552029], [21560316, 21560489], [21562496, 21562637], [21563443, 21563553], [21608099, 21608454], [21632483, 21632567], [21640096, 21640411], [21645631, 21645671]]
ENST00000306793	[[21549529, 21550912], [21551975, 21552029], [21560316, 21560489], [21562496, 21562637], [21563443, 21563553], [21608099, 21608454], [21632483, 21632567], [21640096, 21640654], [21645631, 21646331]]	[[21640505, 21640654], [21645631, 21645671]]
ENST00000400782	[[21549531, 21550912], [21551975, 21552029], [21560316, 21560489], [21562496, 21562637], [21563443, 21563553], [21608099, 21608454], [21632483, 21632567], [21645631, 21646346]]	[[21550789, 21550912], [21551975, 21552029], [21560316, 21560489], [21562496, 21562637], [21563443, 21563553], [21608099, 21608454], [21632483, 21632567], [21645631, 21645671]]
ENST00000517328	[[21550354, 21550912], [21551975, 21552029], [21560316, 21560489], [21562496, 21562637], [21563443, 21563553], [21608099, 21608454], [21632483, 21632567], [21640096, 21640411], [21645631, 21645706], [21662528, 21662640], [21669742, 21669869]]	[[21550789, 21550912], [21551975, 21552029], [21560316, 21560489], [21562496, 21562637], [21563443, 21563553], [21608099, 21608454], [21632483, 21632567], [21640096, 21640411], [21645631, 21645671]]
ENST00000518077	[[21550446, 21550912], [21551975, 21552029], [21560316, 21560489], [21562496, 21562637], [21563443, 21563553], [21608099, 21608454], [21645631, 21645835]]	[[21550789, 21550912], [21551975, 21552029], [21560316, 21560489], [21562496, 21562637], [21563443, 21563553], [21608099, 21608454], [21645631, 21645671]]
ENST00000517892	[[21550792, 21550912], [21551975, 21552029], [21560316, 21560489], [21562496, 21562637], [21563443, 21563553], [21608099, 21608454], [21632483, 21632567], [21645631, 21645986]]	[[21550792, 21550912], [21551975, 21552029], [21560316, 21560489], [21562496, 21562637], [21563443, 21563553], [21608099, 21608454], [21632483, 21632567], [21645631, 21645671]]
ENST00000522071	[[21563551, 21563553], [21608099, 21608454], [21632483, 21632567], [21640096, 21640411], [21645631, 21645706], [21646722, 21646765]]	[[21608099, 21608454], [21632483, 21632567], [21640096, 21640411], [21645631, 21645671]]
ENST00000519195	[[21632487, 21632567], [21640096, 21640411], [21646145, 21646296]]	[[21632487, 21632567], [21640096, 21640238]]
ENST00000520676	[[21637061, 21637229], [21638373, 21638466], [21640096, 21640411], [21645631, 21645671]]	None
NM_001495	[[21549529, 21550912], [21551975, 21552029], [21560316, 21560489], [21562496, 21562637], [21563443, 21563553], [21608099, 21608454], [21632483, 21632567], [21640096, 21640411], [21645631, 21646346]]	[[21550789, 21550912], [21551975, 21552029], [21560316, 21560489], [21562496, 21562637], [21563443, 21563553], [21608099, 21608454], [21632483, 21632567], [21640096, 21640411], [21645631, 21645671]]
NM_001165038	[[21549529, 21550912], [21551975, 21552029], [21560316, 21560489], [21562496, 21562637], [21563443, 21563553], [21608099, 21608454], [21632483, 21632567], [21645631, 21646346]]	[[21550789, 21550912], [21551975, 21552029], [21560316, 21560489], [21562496, 21562637], [21563443, 21563553], [21608099, 21608454], [21632483, 21632567], [21645631, 21645671]]
NM_001165039	[[21549529, 21550912], [21551975, 21552029], [21560316, 21560489], [21562496, 21562637], [21563443, 21563553], [21608099, 21608454], [21645631, 21646346]]	[[21550789, 21550912], [21551975, 21552029], [21560316, 21560489], [21562496, 21562637], [21563443, 21563553], [21608099, 21608454], [21645631, 21645671]]

Promoter

Chrom	Start	End	Description
chr8	21645804	21645850	CAGE_peak_3_at_GFRA2_5end
chr8	21646290	21646308	CAGE_peak_4_at_GFRA2_5end
chr8	21646311	21646351	CAGE_peak_1_at_GFRA2_5end
chr8	21646364	21646402	CAGE_peak_2_at_GFRA2_5end
chr8	21646742	21646752	CAGE_peak_7_at_GFRA2_5end
chr8	21669826	21669866	CAGE_peak_6_at_GFRA2_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr8	GH08I021907	21907528	21915376	2.11	[{'connected_gene': 'DOK2', 'score': 550.77}, {'connected_gene': 'FGF17', 'score': 17.44}, {'connected_gene': 'NPM2', 'score': 11.35}, {'connected_gene': 'HR', 'score': 11.35}, {'connected_gene': 'GFRA2', 'score': 7.15}, {'connected_gene': 'GC08M021903', 'score': 0.44}]
chr8	GH08I021838	21838438	21838831	0.46	[{'connected_gene': 'POLR3D', 'score': 1.64}, {'connected_gene': 'XPO7', 'score': 1.46}, {'connected_gene': 'LOC105379318', 'score': 0.34}, {'connected_gene': 'GFRA2', 'score': 0.31}]
chr8	GH08I021958	21958573	21961739	1.19	[{'connected_gene': 'FAM160B2', 'score': 30.98}, {'connected_gene': 'ENSG00000253200', 'score': 30.07}, {'connected_gene': 'BMP1', 'score': 15.37}, {'connected_gene': 'SORBS3', 'score': 14.64}, {'connected_gene': 'XPO7', 'score': 12.62}, {'connected_gene': 'POLR3D', 'score': 12.34}, {'connected_gene': 'CCAR2', 'score': 10.87}, {'connected_gene': 'C8orf58', 'score': 9.85}, {'connected_gene': 'GFRA2', 'score': 7.15}, {'connected_gene': 'GC08M021982', 'score': 0.31}, {'connected_gene': 'GC08P021924', 'score': 0.28}]
chr8	GH08I021743	21743813	21744939	0.94	[{'connected_gene': 'CCAR2', 'score': 10.86}, {'connected_gene': 'ENSG00000253200', 'score': 10.79}, {'connected_gene': 'GFRA2', 'score': 10.65}, {'connected_gene': 'PIR47014', 'score': 0.25}, {'connected_gene': 'GC08P021598', 'score': 0.11}]
chr8	GH08I021788	21788800	21789201	1.89	[{'connected_gene': 'GFRA2', 'score': 550.34}, {'connected_gene': 'ENSG00000253200', 'score': 16.87}, {'connected_gene': 'FAM160B2', 'score': 13.07}, {'connected_gene': 'CCAR2', 'score': 10.86}, {'connected_gene': 'XPO7', 'score': 9.95}, {'connected_gene': 'PIR47014', 'score': 0.77}, {'connected_gene': 'GC08P021598', 'score': 0.08}]
chr8	GH08I021896	21896975	21897800	0.8	[{'connected_gene': 'GFRA2', 'score': 17.14}, {'connected_gene': 'GC08M021903', 'score': 0.44}, {'connected_gene': 'LOC105379318', 'score': 0.28}]
chr8	GH08I021857	21857423	21859143	0.98	[{'connected_gene': 'GFRA2', 'score': 18.91}, {'connected_gene': 'LOC105379318', 'score': 0.77}]
chr8	GH08I021812	21812029	21812858	0.63	[{'connected_gene': 'GFRA2', 'score': 550.77}, {'connected_gene': 'LOC105379318', 'score': 0.25}]
chr8	GH08I022009	22009601	22011400	1.53	[{'connected_gene': 'GFRA2', 'score': 7.41}, {'connected_gene': 'NPM2', 'score': 3.65}, {'connected_gene': 'PHYHIP', 'score': 2.75}, {'connected_gene': 'DMTN', 'score': 2.54}, {'connected_gene': 'LGI3', 'score': 2.02}, {'connected_gene': 'PIR59461', 'score': 0.44}, {'connected_gene': 'GC08P022006', 'score': 0.44}]
chr8	GH08I021309	21309823	21309923	0.22	[{'connected_gene': 'GFRA2', 'score': 1.97}, {'connected_gene': 'GC08P021316', 'score': 0.44}, {'connected_gene': 'LOC101929172', 'score': 0.39}]
chr8	GH08I021549	21549636	21549737	0.33	[{'connected_gene': 'GFRA2', 'score': 19.73}, {'connected_gene': 'GC08P021558', 'score': 0.44}, {'connected_gene': 'GC08P021537', 'score': 0.39}]
chr8	GH08I021764	21764629	21766174	0.77	[{'connected_gene': 'GFRA2', 'score': 20.12}, {'connected_gene': 'PIR47014', 'score': 0.31}, {'connected_gene': 'GC08P021598', 'score': 0.1}]
chr8	GH08I021674	21674321	21676233	0.51	[{'connected_gene': 'GFRA2', 'score': 10.73}, {'connected_gene': 'GC08P021598', 'score': 0.18}, {'connected_gene': 'PIR47014', 'score': 0.13}]
chr8	GH08I021791	21788049	21788108	0.76	[{'connected_gene': 'GFRA2', 'score': 550.34}, {'connected_gene': 'PIR47014', 'score': 0.77}, {'connected_gene': 'GC08P021598', 'score': 0.09}]
chr8	GH08I021789	21788313	21788478	1.07	[{'connected_gene': 'GFRA2', 'score': 550.34}, {'connected_gene': 'PIR47014', 'score': 0.77}, {'connected_gene': 'GC08P021598', 'score': 0.09}]
chr8	GH08I021568	21568139	21568245	0.22	[{'connected_gene': 'GFRA2', 'score': 3.7}, {'connected_gene': 'GC08P021558', 'score': 0.44}, {'connected_gene': 'GC08P021598', 'score': 0.29}]
chr8	GH08I021917	21917950	21922279	2.36	[{'connected_gene': 'XPO7', 'score': 550.77}, {'connected_gene': 'ENSG00000253200', 'score': 26.09}, {'connected_gene': 'BIN3', 'score': 24.94}, {'connected_gene': 'FGF17', 'score': 16.85}, {'connected_gene': 'FAM160B2', 'score': 13.78}, {'connected_gene': 'NPM2', 'score': 13.25}, {'connected_gene': 'C8orf58', 'score': 10.53}, {'connected_gene': 'POLR3D', 'score': 9.95}, {'connected_gene': 'GFRA2', 'score': 8.38}, {'connected_gene': 'DMTN', 'score': 5.33}, {'connected_gene': 'DOK2', 'score': 1.55}, {'connected_gene': 'PHYHIP', 'score': 1.29}, {'connected_gene': 'GC08P021924', 'score': 0.77}]
chr8	GH08I021766	21766885	21767046	0.53	[{'connected_gene': 'SORBS3', 'score': 11.18}, {'connected_gene': 'GFRA2', 'score': 1.79}, {'connected_gene': 'NPM2', 'score': 1.47}, {'connected_gene': 'PIR47014', 'score': 0.34}, {'connected_gene': 'GC08P021598', 'score': 0.1}]
chr8	GH08I021905	21905250	21906599	0.84	[{'connected_gene': 'GC08M021903', 'score': 550.77}, {'connected_gene': 'GFRA2', 'score': 7.86}, {'connected_gene': 'DOK2', 'score': 0.44}]
chr8	GH08I021986	21986690	21986799	0.2	[{'connected_gene': 'GC08M021982', 'score': 550.77}, {'connected_gene': 'GFRA2', 'score': 6.84}, {'connected_gene': 'GC08P021924', 'score': 0.21}, {'connected_gene': 'XPO7', 'score': 0.2}]
chr8	GH08I021987	21987877	21988944	0.8	[{'connected_gene': 'GC08M021982', 'score': 550.77}, {'connected_gene': 'GFRA2', 'score': 6.86}, {'connected_gene': 'PIR59461', 'score': 0.37}, {'connected_gene': 'GC08P022006', 'score': 0.37}, {'connected_gene': 'XPO7', 'score': 0.2}]
chr8	GH08I021756	21756378	21757392	0.54	[{'connected_gene': 'PIR47014', 'score': 0.29}, {'connected_gene': 'GFRA2', 'score': 0.22}, {'connected_gene': 'GC08P021598', 'score': 0.1}]
chr8	GH08I021697	21696389	21696538	0.31	[{'connected_gene': 'PIR47014', 'score': 0.16}, {'connected_gene': 'GC08P021598', 'score': 0.15}, {'connected_gene': 'GFRA2', 'score': 0.13}]
chr8	GH08I021699	21696969	21697218	0.2	[{'connected_gene': 'PIR47014', 'score': 0.16}, {'connected_gene': 'GC08P021598', 'score': 0.15}, {'connected_gene': 'GFRA2', 'score': 0.13}]
chr8	GH08I021696	21696190	21696258	0.2	[{'connected_gene': 'PIR47014', 'score': 0.16}, {'connected_gene': 'GC08P021598', 'score': 0.15}, {'connected_gene': 'GFRA2', 'score': 0.13}]
chr8	GH08I021784	21784429	21784618	0.74	[{'connected_gene': 'PIR47014', 'score': 0.44}, {'connected_gene': 'GFRA2', 'score': 0.31}, {'connected_gene': 'GC08P021598', 'score': 0.09}]
chr8	GH08I021782	21782749	21782898	0.38	[{'connected_gene': 'PIR47014', 'score': 0.44}, {'connected_gene': 'GFRA2', 'score': 0.31}, {'connected_gene': 'GC08P021598', 'score': 0.09}]
chr8	GH08I021710	21710009	21711563	0.58	[{'connected_gene': 'PIR47014', 'score': 0.18}, {'connected_gene': 'GFRA2', 'score': 0.15}, {'connected_gene': 'GC08P021598', 'score': 0.14}]
chr8	GH08I021790	21789209	21789358	0.31	[{'connected_gene': 'PIR47014', 'score': 550.77}, {'connected_gene': 'GFRA2', 'score': 0.34}, {'connected_gene': 'GC08P021598', 'score': 0.08}]
chr8	GH08I021698	21696626	21696798	0.31	[{'connected_gene': 'PIR47014', 'score': 0.16}, {'connected_gene': 'GC08P021598', 'score': 0.15}, {'connected_gene': 'GFRA2', 'score': 0.13}]
chr8	GH08I021792	21789949	21790766	0.49	[{'connected_gene': 'PIR47014', 'score': 550.77}, {'connected_gene': 'XPO7', 'score': 11.0}, {'connected_gene': 'CCAR2', 'score': 10.08}, {'connected_gene': 'GFRA2', 'score': 0.34}, {'connected_gene': 'GC08P021598', 'score': 0.08}]