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
ENST00000368358	[[155247373, 155247659], [155252201, 155252631], [155253764, 155253926], [155254329, 155254548], [155254955, 155255102], [155255514, 155255755], [155256963, 155257128], [155257571, 155259639]]	[[155247381, 155247659], [155252201, 155252631], [155253764, 155253926], [155254329, 155254548], [155254955, 155255102], [155255514, 155255755], [155256963, 155257128], [155257571, 155258254]]
ENST00000496230	[[155247489, 155247659], [155252201, 155252631], [155253764, 155254548], [155254955, 155255102], [155255514, 155255755], [155257039, 155257128], [155257571, 155258498], [155259181, 155259638]]	None
ENST00000467204	[[155252328, 155252631], [155254329, 155254548], [155254955, 155255102], [155256963, 155257128], [155257571, 155257694]]	None
ENST00000492035	[[155258394, 155258798], [155259181, 155259309]]	None
NR_073074	[[155247217, 155247659], [155252201, 155252631], [155253764, 155253926], [155254462, 155254548], [155254955, 155255102], [155255514, 155255755], [155256963, 155257128], [155257571, 155258498]]	None
NM_020897	[[155247217, 155247659], [155252201, 155252631], [155253764, 155253926], [155254329, 155254548], [155254955, 155255102], [155255514, 155255755], [155256963, 155257128], [155257571, 155259639]]	[[155247381, 155247659], [155252201, 155252631], [155253764, 155253926], [155254329, 155254548], [155254955, 155255102], [155255514, 155255755], [155256963, 155257128], [155257571, 155258254]]

Promoter

Chrom	Start	End	Description
chr1	155247207	155247309	CAGE_peak_1_at_HCN3_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr1	GH01I155272	155272282	155274555	2.06	[{'connected_gene': 'CLK2', 'score': 550.44}, {'connected_gene': 'GBA', 'score': 30.57}, {'connected_gene': 'PYGO2', 'score': 15.23}, {'connected_gene': 'PKLR', 'score': 13.04}, {'connected_gene': 'LOC101928120', 'score': 12.8}, {'connected_gene': 'FDPS', 'score': 12.25}, {'connected_gene': 'RUSC1', 'score': 11.36}, {'connected_gene': 'RUSC1-AS1', 'score': 11.35}, {'connected_gene': 'MIR555', 'score': 10.37}, {'connected_gene': 'MSTO2P', 'score': 10.31}, {'connected_gene': 'FAM189B', 'score': 10.27}, {'connected_gene': 'ASH1L', 'score': 10.24}, {'connected_gene': 'THBS3', 'score': 4.5}, {'connected_gene': 'MUC1', 'score': 4.33}, {'connected_gene': 'HCN3', 'score': 0.77}, {'connected_gene': 'SCAMP3', 'score': 0.39}, {'connected_gene': 'GC01M155270', 'score': 0.21}]
chr1	GH01I155561	155561000	155565402	2.56	[{'connected_gene': 'ASH1L-AS1', 'score': 561.18}, {'connected_gene': 'ASH1L', 'score': 550.77}, {'connected_gene': 'CLK2', 'score': 61.46}, {'connected_gene': 'GON4L', 'score': 47.76}, {'connected_gene': 'KHDC4', 'score': 38.15}, {'connected_gene': 'THBS3', 'score': 30.45}, {'connected_gene': 'SSR2', 'score': 30.24}, {'connected_gene': 'ENSG00000271267', 'score': 30.2}, {'connected_gene': 'GLMP', 'score': 27.85}, {'connected_gene': 'RUSC1-AS1', 'score': 26.45}, {'connected_gene': 'SHC1', 'score': 24.5}, {'connected_gene': 'DPM3', 'score': 11.73}, {'connected_gene': 'PMF1', 'score': 11.02}, {'connected_gene': 'FAM189B', 'score': 10.99}, {'connected_gene': 'KRTCAP2', 'score': 10.54}, {'connected_gene': 'DCST1', 'score': 10.18}, {'connected_gene': 'SLC50A1', 'score': 10.02}, {'connected_gene': 'LMNA', 'score': 9.89}, {'connected_gene': 'FLAD1', 'score': 9.76}, {'connected_gene': 'HCN3', 'score': 1.66}]
chr1	GH01I155276	155276736	155278886	1.98	[{'connected_gene': 'HCN3', 'score': 582.2}, {'connected_gene': 'CLK2', 'score': 569.96}, {'connected_gene': 'GBA', 'score': 31.3}, {'connected_gene': 'GON4L', 'score': 18.92}, {'connected_gene': 'KHDC4', 'score': 13.17}, {'connected_gene': 'SHC1', 'score': 13.05}, {'connected_gene': 'YY1AP1', 'score': 12.59}, {'connected_gene': 'THBS3', 'score': 12.53}, {'connected_gene': 'ENSG00000271267', 'score': 11.44}, {'connected_gene': 'FLAD1', 'score': 11.37}, {'connected_gene': 'RUSC1-AS1', 'score': 10.26}, {'connected_gene': 'KRTCAP2', 'score': 10.25}, {'connected_gene': 'MUC1', 'score': 4.33}, {'connected_gene': 'GC01M155270', 'score': 0.22}]
chr1	GH01I155635	155635801	155638198	0.91	[{'connected_gene': 'HCN3', 'score': 17.3}, {'connected_gene': 'GBA', 'score': 15.94}, {'connected_gene': 'ASH1L', 'score': 10.4}, {'connected_gene': 'DAP3', 'score': 10.21}, {'connected_gene': 'GBAP1', 'score': 10.14}, {'connected_gene': 'RUSC1-AS1', 'score': 10.08}, {'connected_gene': 'RUSC1', 'score': 10.08}, {'connected_gene': 'MIR555', 'score': 9.66}, {'connected_gene': 'LOC100419798', 'score': 0.44}, {'connected_gene': 'PIR48753', 'score': 0.39}, {'connected_gene': 'ENSG00000246203', 'score': 0.34}]
chr1	GH01I155304	155304814	155306853	0.78	[{'connected_gene': 'HCN3', 'score': 33.08}, {'connected_gene': 'GBA', 'score': 26.69}, {'connected_gene': 'PKLR', 'score': 0.77}, {'connected_gene': 'GC01M155270', 'score': 0.31}, {'connected_gene': 'CLK2', 'score': 0.31}]
chr1	GH01I155316	155316366	155318648	0.46	[{'connected_gene': 'HCN3', 'score': 38.73}, {'connected_gene': 'GBA', 'score': 24.44}, {'connected_gene': 'SCAMP3', 'score': 11.53}, {'connected_gene': 'FAM189B', 'score': 11.52}, {'connected_gene': 'MIR555', 'score': 10.67}, {'connected_gene': 'ASH1L', 'score': 10.43}, {'connected_gene': 'RNU6-1297P', 'score': 9.39}, {'connected_gene': 'RUSC1', 'score': 0.77}, {'connected_gene': 'RUSC1-AS1', 'score': 0.44}, {'connected_gene': 'FDPS', 'score': 0.44}, {'connected_gene': 'GC01M155270', 'score': 0.37}]
chr1	GH01I155313	155313740	155314141	0.34	[{'connected_gene': 'HCN3', 'score': 11.83}, {'connected_gene': 'SCAMP3', 'score': 11.54}, {'connected_gene': 'FAM189B', 'score': 11.53}, {'connected_gene': 'MIR555', 'score': 10.65}, {'connected_gene': 'ASH1L', 'score': 10.43}, {'connected_gene': 'DCST1', 'score': 1.34}, {'connected_gene': 'EFNA1', 'score': 1.21}, {'connected_gene': 'RUSC1', 'score': 0.44}, {'connected_gene': 'FDPS', 'score': 0.44}, {'connected_gene': 'GC01M155270', 'score': 0.34}]
chr1	GH01I155307	155307188	155311012	2.12	[{'connected_gene': 'PKLR', 'score': 550.77}, {'connected_gene': 'FDPS', 'score': 550.77}, {'connected_gene': 'GON4L', 'score': 56.78}, {'connected_gene': 'CLK2', 'score': 53.5}, {'connected_gene': 'KHDC4', 'score': 48.4}, {'connected_gene': 'ENSG00000271267', 'score': 39.76}, {'connected_gene': 'THBS3', 'score': 32.34}, {'connected_gene': 'RUSC1-AS1', 'score': 31.99}, {'connected_gene': 'GBA', 'score': 28.99}, {'connected_gene': 'KRTCAP2', 'score': 26.67}, {'connected_gene': 'HCN3', 'score': 25.27}, {'connected_gene': 'SHC1', 'score': 23.14}, {'connected_gene': 'FAM189B', 'score': 23.07}, {'connected_gene': 'FLAD1', 'score': 22.91}, {'connected_gene': 'YY1AP1', 'score': 21.66}, {'connected_gene': 'MSTO1', 'score': 21.52}, {'connected_gene': 'SCAMP3', 'score': 12.15}, {'connected_gene': 'MSTO2P', 'score': 11.77}, {'connected_gene': 'ASH1L', 'score': 11.05}, {'connected_gene': 'MIR555', 'score': 10.86}, {'connected_gene': 'LOC101928120', 'score': 10.75}, {'connected_gene': 'PYGO2', 'score': 10.23}, {'connected_gene': 'DPM3', 'score': 9.9}, {'connected_gene': 'PMF1', 'score': 9.82}, {'connected_gene': 'GBAP1', 'score': 6.04}, {'connected_gene': 'RUSC1', 'score': 0.39}, {'connected_gene': 'GC01M155270', 'score': 0.31}]
chr1	GH01I155222	155222777	155228684	1.81	[{'connected_gene': 'GBAP1', 'score': 590.14}, {'connected_gene': 'KHDC4', 'score': 137.02}, {'connected_gene': 'MSTO1', 'score': 110.62}, {'connected_gene': 'ENSG00000271267', 'score': 108.94}, {'connected_gene': 'GON4L', 'score': 107.09}, {'connected_gene': 'MSTO2P', 'score': 101.15}, {'connected_gene': 'CLK2', 'score': 90.12}, {'connected_gene': 'RUSC1-AS1', 'score': 54.73}, {'connected_gene': 'LOC101928120', 'score': 54.67}, {'connected_gene': 'THBS3', 'score': 44.16}, {'connected_gene': 'ASH1L-AS1', 'score': 36.76}, {'connected_gene': 'LMNA', 'score': 31.19}, {'connected_gene': 'PYGO2', 'score': 30.31}, {'connected_gene': 'ATP8B2', 'score': 26.22}, {'connected_gene': 'DPM3', 'score': 23.54}, {'connected_gene': 'FLAD1', 'score': 22.92}, {'connected_gene': 'ASH1L', 'score': 22.77}, {'connected_gene': 'SHC1', 'score': 22.72}, {'connected_gene': 'YY1AP1', 'score': 20.65}, {'connected_gene': 'HCN3', 'score': 19.87}, {'connected_gene': 'KRTCAP2', 'score': 18.39}, {'connected_gene': 'DCST2', 'score': 18.1}, {'connected_gene': 'DAP3', 'score': 10.85}, {'connected_gene': 'ADAM15', 'score': 10.77}, {'connected_gene': 'CHRNB2', 'score': 10.18}, {'connected_gene': 'DCST1', 'score': 10.06}, {'connected_gene': 'PMF1', 'score': 9.82}, {'connected_gene': 'ADAR', 'score': 9.66}, {'connected_gene': 'RIT1', 'score': 5.17}, {'connected_gene': 'GC01P155219', 'score': 0.44}, {'connected_gene': 'GC01P155220', 'score': 0.44}, {'connected_gene': 'GC01P155222', 'score': 0.44}, {'connected_gene': 'GC01P155221', 'score': 0.44}]
chr1	GH01I155535	155535001	155537993	0.99	[{'connected_gene': 'GBA', 'score': 19.66}, {'connected_gene': 'HCN3', 'score': 19.59}, {'connected_gene': 'RUSC1', 'score': 11.08}, {'connected_gene': 'RUSC1-AS1', 'score': 11.08}, {'connected_gene': 'RNU6-1297P', 'score': 10.71}, {'connected_gene': 'FDPS', 'score': 10.39}, {'connected_gene': 'FAM189B', 'score': 10.37}, {'connected_gene': 'SCAMP3', 'score': 10.37}, {'connected_gene': 'ASH1L', 'score': 10.16}, {'connected_gene': 'MIR555', 'score': 9.94}, {'connected_gene': 'GC01P155549', 'score': 0.39}, {'connected_gene': 'GC01P155435', 'score': 0.15}, {'connected_gene': 'GC01P155433', 'score': 0.15}, {'connected_gene': 'GC01P155434', 'score': 0.15}]
chr1	GH01I155240	155240597	155242240	2.21	[{'connected_gene': 'GBA', 'score': 550.77}, {'connected_gene': 'RUSC1-AS1', 'score': 21.99}, {'connected_gene': 'KRTCAP2', 'score': 21.41}, {'connected_gene': 'KHDC4', 'score': 20.91}, {'connected_gene': 'GON4L', 'score': 16.45}, {'connected_gene': 'ENSG00000271267', 'score': 15.73}, {'connected_gene': 'CLK2', 'score': 14.6}, {'connected_gene': 'MSTO1', 'score': 13.4}, {'connected_gene': 'HCN3', 'score': 11.79}, {'connected_gene': 'MSTO2P', 'score': 11.76}, {'connected_gene': 'TRIM46', 'score': 11.72}, {'connected_gene': 'PKLR', 'score': 11.72}, {'connected_gene': 'FDPS', 'score': 11.7}, {'connected_gene': 'RUSC1', 'score': 11.12}, {'connected_gene': 'LOC101928120', 'score': 10.76}, {'connected_gene': 'THBS3', 'score': 10.65}, {'connected_gene': 'MIR555', 'score': 10.22}, {'connected_gene': 'ASH1L', 'score': 10.13}, {'connected_gene': 'DPM3', 'score': 9.94}, {'connected_gene': 'MUC1', 'score': 4.71}, {'connected_gene': 'GC01M155231', 'score': 0.44}]
chr1	GH01I155242	155242798	155245686	2.36	[{'connected_gene': 'GBA', 'score': 582.42}, {'connected_gene': 'KHDC4', 'score': 273.84}, {'connected_gene': 'GON4L', 'score': 261.52}, {'connected_gene': 'CLK2', 'score': 216.71}, {'connected_gene': 'ENSG00000271267', 'score': 207.06}, {'connected_gene': 'MSTO1', 'score': 145.55}, {'connected_gene': 'MSTO2P', 'score': 131.06}, {'connected_gene': 'RUSC1-AS1', 'score': 112.55}, {'connected_gene': 'THBS3', 'score': 111.91}, {'connected_gene': 'SHC1', 'score': 83.44}, {'connected_gene': 'KRTCAP2', 'score': 68.94}, {'connected_gene': 'LOC101928120', 'score': 65.72}, {'connected_gene': 'ASH1L', 'score': 58.16}, {'connected_gene': 'FLAD1', 'score': 56.64}, {'connected_gene': 'YY1AP1', 'score': 54.61}, {'connected_gene': 'PYGO2', 'score': 49.68}, {'connected_gene': 'ASH1L-AS1', 'score': 47.79}, {'connected_gene': 'LMNA', 'score': 46.75}, {'connected_gene': 'ATP8B2', 'score': 43.0}, {'connected_gene': 'DPM3', 'score': 41.73}, {'connected_gene': 'BGLAP', 'score': 30.77}, {'connected_gene': 'SSR2', 'score': 30.66}, {'connected_gene': 'DCST1', 'score': 27.02}, {'connected_gene': 'ENSG00000246203', 'score': 23.69}, {'connected_gene': 'TRIM46', 'score': 22.59}, {'connected_gene': 'PMF1', 'score': 19.13}, {'connected_gene': 'DCST2', 'score': 18.88}, {'connected_gene': 'GBAP1', 'score': 18.56}, {'connected_gene': 'RIT1', 'score': 18.25}, {'connected_gene': 'SYT11', 'score': 14.22}, {'connected_gene': 'MTX1', 'score': 11.86}, {'connected_gene': 'HCN3', 'score': 11.81}, {'connected_gene': 'PKLR', 'score': 11.72}, {'connected_gene': 'FDPS', 'score': 11.71}, {'connected_gene': 'FAM189B', 'score': 11.32}, {'connected_gene': 'ENSG00000231064', 'score': 11.26}, {'connected_gene': 'UBE2Q1', 'score': 11.21}, {'connected_gene': 'RUSC1', 'score': 11.12}, {'connected_gene': 'ADAM15', 'score': 10.76}, {'connected_gene': 'MIR555', 'score': 10.23}, {'connected_gene': 'CHRNB2', 'score': 10.18}, {'connected_gene': 'SLC50A1', 'score': 10.14}, {'connected_gene': 'EFNA4', 'score': 9.95}, {'connected_gene': 'ADAR', 'score': 9.66}, {'connected_gene': 'MUC1', 'score': 4.41}, {'connected_gene': 'GC01M155231', 'score': 0.39}]
chr1	GH01I155526	155526874	155527221	0.25	[{'connected_gene': 'DCST1', 'score': 1.94}, {'connected_gene': 'ASH1L', 'score': 1.6}, {'connected_gene': 'YY1AP1', 'score': 1.3}, {'connected_gene': 'HCN3', 'score': 1.27}, {'connected_gene': 'GC01P155549', 'score': 0.34}, {'connected_gene': 'GC01P155435', 'score': 0.16}, {'connected_gene': 'GC01P155433', 'score': 0.16}, {'connected_gene': 'GC01P155434', 'score': 0.16}]