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

Promoter

Chrom	Start	End	Description
chr17	62075703	62075725	CAGE_peak_1_at_C17orf72_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr17	GH17I063993	63993441	63994092	0.38	[{'connected_gene': 'PRR29', 'score': 5.6}, {'connected_gene': 'SCN4A', 'score': 0.77}]
chr17	GH17I063997	63997051	63998801	2.1	[{'connected_gene': 'PRR29', 'score': 566.75}, {'connected_gene': 'PRR29-AS1', 'score': 550.77}, {'connected_gene': 'SCN4A', 'score': 0.44}]
chr17	GH17I064027	64027481	64027610	0.57	[{'connected_gene': 'PRR29', 'score': 22.33}, {'connected_gene': 'GH1', 'score': 11.98}, {'connected_gene': 'CSHL1', 'score': 11.98}, {'connected_gene': 'GC17P064030', 'score': 0.77}, {'connected_gene': 'ICAM2', 'score': 0.44}]
chr17	GH17I064109	64109363	64110238	0.58	[{'connected_gene': 'PRR29', 'score': 4.21}, {'connected_gene': 'ERN1', 'score': 0.34}, {'connected_gene': 'GC17M064041', 'score': 0.2}]
chr17	GH17I064114	64114517	64116851	1.12	[{'connected_gene': 'PRR29', 'score': 4.2}, {'connected_gene': 'ERN1', 'score': 0.37}, {'connected_gene': 'GC17M064041', 'score': 0.19}]
chr17	GH17I064105	64105910	64108738	1.1	[{'connected_gene': 'PRR29', 'score': 7.38}, {'connected_gene': 'ERN1', 'score': 5.53}, {'connected_gene': 'GC17M064041', 'score': 0.2}]
chr17	GH17I064125	64125690	64127763	0.72	[{'connected_gene': 'PRR29', 'score': 6.3}, {'connected_gene': 'ERN1', 'score': 0.77}, {'connected_gene': 'GC17M064041', 'score': 0.18}]
chr17	GH17I063978	63978315	63981511	0.66	[{'connected_gene': 'PRR29', 'score': 9.26}, {'connected_gene': 'FTSJ3', 'score': 4.24}, {'connected_gene': 'PIR61137', 'score': 0.44}, {'connected_gene': 'ENSG00000263489', 'score': 0.44}, {'connected_gene': 'SCN4A', 'score': 0.39}]
chr17	GH17I064119	64119772	64122409	1.23	[{'connected_gene': 'SNORD104', 'score': 10.63}, {'connected_gene': 'PRR29', 'score': 5.68}, {'connected_gene': 'ERN1', 'score': 0.44}, {'connected_gene': 'GC17M064041', 'score': 0.18}]
chr17	GH17I063990	63990041	63991050	1.22	[{'connected_gene': 'SCN4A', 'score': 550.77}, {'connected_gene': 'ENSG00000263489', 'score': 550.77}, {'connected_gene': 'CD79B', 'score': 13.17}, {'connected_gene': 'GH1', 'score': 12.16}, {'connected_gene': 'CSHL1', 'score': 12.16}, {'connected_gene': 'PRR29', 'score': 4.81}]
chr17	GH17I063994	63994914	63995215	0.22	[{'connected_gene': 'SCN4A', 'score': 0.77}, {'connected_gene': 'PRR29', 'score': 0.77}]
chr17	GH17I064184	64184753	64188315	1.3	[{'connected_gene': 'TEX2', 'score': 5.85}, {'connected_gene': 'PRR29', 'score': 4.47}, {'connected_gene': 'SNORA50C', 'score': 0.26}]
chr17	GH17I064229	64229747	64233013	1.89	[{'connected_gene': 'TEX2', 'score': 566.74}, {'connected_gene': 'CEP95', 'score': 15.37}, {'connected_gene': 'POLG2', 'score': 14.49}, {'connected_gene': 'SLC16A6P1', 'score': 13.06}, {'connected_gene': 'ENSG00000265982', 'score': 12.51}, {'connected_gene': 'DDX42', 'score': 11.71}, {'connected_gene': 'PLEKHM1P1', 'score': 10.66}, {'connected_gene': 'DDX5', 'score': 9.91}, {'connected_gene': 'FTSJ3', 'score': 9.84}, {'connected_gene': 'PRR29', 'score': 1.41}, {'connected_gene': 'SNORA50C', 'score': 0.17}]
chr17	GH17I064005	64005201	64010399	1.9	[{'connected_gene': 'ICAM2', 'score': 550.39}, {'connected_gene': 'PRR29', 'score': 37.87}, {'connected_gene': 'GH1', 'score': 11.94}, {'connected_gene': 'CSHL1', 'score': 11.94}, {'connected_gene': 'GC17M064000', 'score': 0.44}]
chr17	GH17I064013	64013564	64026490	2.54	[{'connected_gene': 'ICAM2', 'score': 552.44}, {'connected_gene': 'PRR29', 'score': 33.92}, {'connected_gene': 'DDX5', 'score': 32.75}, {'connected_gene': 'FTSJ3', 'score': 30.47}, {'connected_gene': 'SMARCD2', 'score': 29.41}, {'connected_gene': 'POLG2', 'score': 28.67}, {'connected_gene': 'CEP95', 'score': 28.66}, {'connected_gene': 'PLEKHM1P1', 'score': 27.56}, {'connected_gene': 'ENSG00000265982', 'score': 23.49}, {'connected_gene': 'DDX42', 'score': 23.3}, {'connected_gene': 'ENSG00000281311', 'score': 23.09}, {'connected_gene': 'SLC16A6P1', 'score': 20.69}, {'connected_gene': 'CSHL1', 'score': 12.69}, {'connected_gene': 'GH1', 'score': 12.69}, {'connected_gene': 'SCN4A', 'score': 12.43}, {'connected_gene': 'ERN1', 'score': 11.46}, {'connected_gene': 'ACE', 'score': 5.48}, {'connected_gene': 'MILR1', 'score': 2.56}, {'connected_gene': 'LIMD2', 'score': 1.53}, {'connected_gene': 'MAP3K3', 'score': 1.41}, {'connected_gene': 'GC17M064000', 'score': 0.37}]
chr17	GH17I064086	64086986	64089130	0.65	[{'connected_gene': 'ERN1', 'score': 5.29}, {'connected_gene': 'PRR29', 'score': 4.62}, {'connected_gene': 'GC17M064041', 'score': 0.25}]
chr17	GH17I064079	64079504	64086207	1.81	[{'connected_gene': 'ERN1', 'score': 39.36}, {'connected_gene': 'CSHL1', 'score': 11.08}, {'connected_gene': 'GH1', 'score': 11.08}, {'connected_gene': 'SNORD104', 'score': 10.69}, {'connected_gene': 'MAP3K3', 'score': 9.66}, {'connected_gene': 'PECAM1', 'score': 6.74}, {'connected_gene': 'DDX5', 'score': 6.73}, {'connected_gene': 'PRR29', 'score': 5.12}, {'connected_gene': 'LIMD2', 'score': 3.64}, {'connected_gene': 'ICAM2', 'score': 1.7}, {'connected_gene': 'CEP95', 'score': 1.38}, {'connected_gene': 'GC17M064041', 'score': 0.26}]
chr17	GH17I064100	64100682	64101235	0.46	[{'connected_gene': 'ERN1', 'score': 24.08}, {'connected_gene': 'DDX42', 'score': 21.8}, {'connected_gene': 'SMARCD2', 'score': 17.66}, {'connected_gene': 'DDX5', 'score': 17.05}, {'connected_gene': 'FTSJ3', 'score': 16.28}, {'connected_gene': 'PLEKHM1P1', 'score': 15.02}, {'connected_gene': 'POLG2', 'score': 14.42}, {'connected_gene': 'ENSG00000281311', 'score': 14.3}, {'connected_gene': 'CEP95', 'score': 13.12}, {'connected_gene': 'ENSG00000265982', 'score': 12.59}, {'connected_gene': 'SLC16A6P1', 'score': 12.02}, {'connected_gene': 'CSHL1', 'score': 10.92}, {'connected_gene': 'GH1', 'score': 10.92}, {'connected_gene': 'PRR29', 'score': 6.5}, {'connected_gene': 'GC17M064041', 'score': 0.22}]
chr17	GH17I063982	63982935	63986237	1.29	[{'connected_gene': 'FTSJ3', 'score': 19.89}, {'connected_gene': 'POLG2', 'score': 14.19}, {'connected_gene': 'DDX5', 'score': 13.52}, {'connected_gene': 'CD79B', 'score': 13.18}, {'connected_gene': 'CSHL1', 'score': 12.51}, {'connected_gene': 'GH1', 'score': 12.51}, {'connected_gene': 'DDX42', 'score': 12.09}, {'connected_gene': 'ICAM2', 'score': 12.02}, {'connected_gene': 'SMARCD2', 'score': 11.87}, {'connected_gene': 'CEP95', 'score': 11.32}, {'connected_gene': 'EEF1DP7', 'score': 11.12}, {'connected_gene': 'PLEKHM1P1', 'score': 10.9}, {'connected_gene': 'MAP3K3', 'score': 10.73}, {'connected_gene': 'ENSG00000265982', 'score': 10.37}, {'connected_gene': 'PRR29', 'score': 9.59}, {'connected_gene': 'ARHGAP27P1-BPTFP1-KPNA2P3', 'score': 4.76}, {'connected_gene': 'PSMC5', 'score': 4.15}, {'connected_gene': 'ENSG00000263489', 'score': 0.77}, {'connected_gene': 'SCN4A', 'score': 0.44}, {'connected_gene': 'PIR61137', 'score': 0.39}]
chr17	GH17I063959	63959307	63964929	1.28	[{'connected_gene': 'LOC105371858', 'score': 550.77}, {'connected_gene': 'FTSJ3', 'score': 24.69}, {'connected_gene': 'SMARCD2', 'score': 17.72}, {'connected_gene': 'DDX5', 'score': 17.03}, {'connected_gene': 'PLEKHM1P1', 'score': 15.01}, {'connected_gene': 'POLG2', 'score': 14.4}, {'connected_gene': 'ENSG00000281311', 'score': 14.14}, {'connected_gene': 'DDX42', 'score': 13.32}, {'connected_gene': 'CEP95', 'score': 13.11}, {'connected_gene': 'ENSG00000265982', 'score': 12.59}, {'connected_gene': 'SLC16A6P1', 'score': 12.02}, {'connected_gene': 'ERN1', 'score': 11.42}, {'connected_gene': 'PRR29', 'score': 5.12}, {'connected_gene': 'MAP3K3', 'score': 4.75}, {'connected_gene': 'PSMC5', 'score': 4.67}, {'connected_gene': 'PIR61137', 'score': 0.44}, {'connected_gene': 'SCN4A', 'score': 0.31}]
chr17	GH17I064001	64001497	64002751	0.96	[{'connected_gene': 'PIR47420', 'score': 550.77}, {'connected_gene': 'PIR38145', 'score': 550.77}, {'connected_gene': 'GC17P064004', 'score': 550.77}, {'connected_gene': 'GC17M064000', 'score': 550.77}, {'connected_gene': 'PRR29', 'score': 40.94}, {'connected_gene': 'PRR29-AS1', 'score': 0.77}, {'connected_gene': 'ICAM2', 'score': 0.37}]

Transcript ID	Transcript exon region	Coding exon region
ENST00000577953	[[62075710, 62075784], [62076066, 62076142], [62076327, 62076434], [62078826, 62078897], [62079092, 62079329]]	[[62075724, 62075784], [62076066, 62076142], [62076327, 62076434], [62078826, 62078880]]
ENST00000539996	[[62075710, 62075784], [62076327, 62076434], [62078443, 62078670], [62078826, 62078897], [62079092, 62079580]]	[[62076341, 62076434], [62078443, 62078670], [62078826, 62078897], [62079092, 62079121]]
ENST00000582540	[[62075710, 62075784], [62076327, 62076434], [62078443, 62078670], [62078826, 62078897], [62079092, 62079580]]	[[62076344, 62076434], [62078443, 62078670], [62078826, 62078897], [62079092, 62079121]]
ENST00000579184	[[62075710, 62075784], [62076087, 62076142], [62076327, 62076434], [62078443, 62078670], [62078826, 62078897], [62079092, 62079610]]	[[62075724, 62075784], [62076087, 62076142], [62076327, 62076434], [62078443, 62078670], [62078826, 62078897], [62079092, 62079121]]
ENST00000425164	[[62075710, 62075784], [62076066, 62076142], [62076327, 62076434], [62078443, 62078668], [62079092, 62079876]]	[[62075724, 62075784], [62076066, 62076142], [62076327, 62076434], [62078443, 62078668], [62079092, 62079335]]
ENST00000412177	[[62075710, 62075784], [62076066, 62076142], [62076327, 62076434], [62078443, 62078670], [62078826, 62078897], [62079092, 62081664]]	[[62075724, 62075784], [62076066, 62076142], [62076327, 62076434], [62078443, 62078670], [62078826, 62078897], [62079092, 62079121]]
ENST00000583891	[[62075714, 62075784], [62076087, 62076142], [62076327, 62076434], [62078443, 62078668], [62079092, 62079113]]	[[62075724, 62075784], [62076087, 62076142], [62076327, 62076434], [62078443, 62078668], [62079092, 62079113]]
ENST00000580752	[[62075714, 62075784], [62078826, 62078897], [62079092, 62079409]]	[[62075724, 62075784], [62078826, 62078880]]
ENST00000582530	[[62075714, 62075784], [62076066, 62076434], [62078443, 62078670], [62078826, 62078897], [62079092, 62080473]]	None
ENST00000225760	[[62075814, 62076142], [62076327, 62076434], [62078826, 62078897], [62079092, 62081645]]	None
ENST00000579222	[[62078216, 62079853]]	None
NM_001191030	[[62075710, 62075784], [62076087, 62076142], [62076327, 62076434], [62078443, 62078670], [62078826, 62078897], [62079092, 62081645]]	[[62075724, 62075784], [62076087, 62076142], [62076327, 62076434], [62078443, 62078670], [62078826, 62078897], [62079092, 62079121]]
NM_001191031	[[62075710, 62075784], [62076066, 62076142], [62076327, 62076434], [62078826, 62078897], [62079092, 62081645]]	[[62075724, 62075784], [62076066, 62076142], [62076327, 62076434], [62078826, 62078880]]
NM_001191029	[[62075710, 62075784], [62076066, 62076142], [62076327, 62076434], [62078443, 62078668], [62079092, 62081645]]	[[62075724, 62075784], [62076066, 62076142], [62076327, 62076434], [62078443, 62078668], [62079092, 62079335]]
NM_001164257	[[62075710, 62075784], [62076066, 62076142], [62076327, 62076434], [62078443, 62078670], [62078826, 62078897], [62079092, 62081645]]	[[62075724, 62075784], [62076066, 62076142], [62076327, 62076434], [62078443, 62078670], [62078826, 62078897], [62079092, 62079121]]