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
ENST00000392414	[[155259629, 155260469], [155261546, 155261728], [155262967, 155263134], [155263228, 155263381], [155264025, 155264176], [155264272, 155264543], [155264906, 155265093], [155265227, 155265359], [155265455, 155265547], [155269888, 155270071], [155270671, 155270792]]	[[155260362, 155260469], [155261546, 155261728], [155262967, 155263134], [155263228, 155263381], [155264025, 155264176], [155264272, 155264543], [155264906, 155265093], [155265227, 155265359], [155265455, 155265547], [155269888, 155270071], [155270671, 155270678]]
ENST00000342741	[[155260043, 155260469], [155261546, 155261728], [155262967, 155263134], [155263228, 155263381], [155264025, 155264176], [155264272, 155264543], [155264906, 155265093], [155265227, 155265359], [155265455, 155265547], [155269888, 155270071], [155271086, 155271225]]	[[155260362, 155260469], [155261546, 155261728], [155262967, 155263134], [155263228, 155263381], [155264025, 155264176], [155264272, 155264543], [155264906, 155265093], [155265227, 155265359], [155265455, 155265547], [155269888, 155270071], [155271086, 155271186]]
ENST00000434082	[[155264925, 155265093], [155265227, 155265359], [155265455, 155265547], [155269888, 155270000], [155270671, 155270747]]	[[155269935, 155270000], [155270671, 155270747]]
NM_181871	[[155259083, 155260469], [155261546, 155261728], [155262967, 155263134], [155263228, 155263381], [155264025, 155264176], [155264272, 155264543], [155264906, 155265093], [155265227, 155265359], [155265455, 155265547], [155269888, 155270071], [155270671, 155270792]]	[[155260362, 155260469], [155261546, 155261728], [155262967, 155263134], [155263228, 155263381], [155264025, 155264176], [155264272, 155264543], [155264906, 155265093], [155265227, 155265359], [155265455, 155265547], [155269888, 155270071], [155270671, 155270678]]
NM_000298	[[155259083, 155260469], [155261546, 155261728], [155262967, 155263134], [155263228, 155263381], [155264025, 155264176], [155264272, 155264543], [155264906, 155265093], [155265227, 155265359], [155265455, 155265547], [155269888, 155270071], [155271086, 155271225]]	[[155260362, 155260469], [155261546, 155261728], [155262967, 155263134], [155263228, 155263381], [155264025, 155264176], [155264272, 155264543], [155264906, 155265093], [155265227, 155265359], [155265455, 155265547], [155269888, 155270071], [155271086, 155271186]]

Promoter

Chrom	Start	End	Description
chr1	155270716	155270768	CAGE_peak_1_at_PKLR_5end
chr1	155270770	155270797	CAGE_peak_3_at_PKLR_5end
chr1	155271191	155271202	CAGE_peak_4_at_PKLR_5end
chr1	155271213	155271234	CAGE_peak_2_at_PKLR_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	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	GH01I155698	155698377	155699644	1.02	[{'connected_gene': 'PKLR', 'score': 10.5}, {'connected_gene': 'DAP3', 'score': 6.67}, {'connected_gene': 'YY1AP1', 'score': 0.44}, {'connected_gene': 'ENSG00000227673', 'score': 0.39}]
chr1	GH01I155299	155299975	155302150	1.65	[{'connected_gene': 'PKLR', 'score': 557.19}, {'connected_gene': 'GBA', 'score': 30.22}, {'connected_gene': 'GON4L', 'score': 13.47}, {'connected_gene': 'CLK2', 'score': 12.14}, {'connected_gene': 'SSR2', 'score': 10.89}, {'connected_gene': 'GLMP', 'score': 10.71}, {'connected_gene': 'SLC50A1', 'score': 10.08}, {'connected_gene': 'THBS3', 'score': 9.94}, {'connected_gene': 'GC01M155270', 'score': 0.29}]
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	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	GH01I155539	155539601	155540800	0.6	[{'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': 10.19}, {'connected_gene': 'MIR555', 'score': 9.94}, {'connected_gene': 'PKLR', 'score': 9.82}, {'connected_gene': 'RIT1', 'score': 5.76}, {'connected_gene': 'GC01P155549', 'score': 0.44}, {'connected_gene': 'GC01P155435', 'score': 0.14}, {'connected_gene': 'GC01P155433', 'score': 0.14}, {'connected_gene': 'GC01P155434', 'score': 0.14}]
chr1	GH01I155123	155123683	155132362	2.56	[{'connected_gene': 'EFNA1', 'score': 564.37}, {'connected_gene': 'KHDC4', 'score': 54.29}, {'connected_gene': 'GON4L', 'score': 50.87}, {'connected_gene': 'CLK2', 'score': 49.54}, {'connected_gene': 'UBAP2L', 'score': 38.75}, {'connected_gene': 'MSTO1', 'score': 37.46}, {'connected_gene': 'ENSG00000271267', 'score': 37.25}, {'connected_gene': 'MSTO2P', 'score': 31.07}, {'connected_gene': 'LOC101928120', 'score': 29.75}, {'connected_gene': 'RUSC1-AS1', 'score': 25.38}, {'connected_gene': 'SHC1', 'score': 23.56}, {'connected_gene': 'THBS3', 'score': 23.26}, {'connected_gene': 'LMNA', 'score': 19.89}, {'connected_gene': 'KRTCAP2', 'score': 18.9}, {'connected_gene': 'ASH1L-AS1', 'score': 18.85}, {'connected_gene': 'PYGO2', 'score': 15.25}, {'connected_gene': 'GBAP1', 'score': 14.62}, {'connected_gene': 'FLAD1', 'score': 13.41}, {'connected_gene': 'SSR2', 'score': 12.44}, {'connected_gene': 'DPM3', 'score': 12.08}, {'connected_gene': 'YY1AP1', 'score': 10.83}, {'connected_gene': 'ATP8B2', 'score': 10.44}, {'connected_gene': 'CKS1B', 'score': 10.16}, {'connected_gene': 'ADAM15', 'score': 7.73}, {'connected_gene': 'GBA', 'score': 6.1}, {'connected_gene': 'POU5F1P4', 'score': 4.36}, {'connected_gene': 'PKLR', 'score': 1.71}, {'connected_gene': 'EFNA4', 'score': 1.35}, {'connected_gene': 'SLC50A1', 'score': 0.44}]
chr1	GH01I155295	155295510	155295639	0.54	[{'connected_gene': 'MSTO2P', 'score': 16.38}, {'connected_gene': 'LOC101928120', 'score': 15.87}, {'connected_gene': 'PYGO2', 'score': 15.21}, {'connected_gene': 'MSTO1', 'score': 14.84}, {'connected_gene': 'KHDC4', 'score': 11.36}, {'connected_gene': 'ASH1L-AS1', 'score': 10.25}, {'connected_gene': 'ENSG00000271267', 'score': 9.7}, {'connected_gene': 'PKLR', 'score': 0.39}, {'connected_gene': 'CLK2', 'score': 0.37}, {'connected_gene': 'GC01M155270', 'score': 0.28}]