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
ENST00000344935	[[71244587, 71244675], [71248768, 71248862], [71250069, 71250165], [71253819, 71253972], [71257071, 71257122], [71257854, 71258019]]	[[71244632, 71244675], [71248768, 71248862], [71250069, 71250165], [71253819, 71253972], [71257071, 71257122], [71257854, 71257957]]
ENST00000397671	[[71245931, 71246430], [71247111, 71247246], [71248768, 71248865], [71250069, 71250165], [71253819, 71253972], [71257071, 71257122], [71258247, 71258491]]	[[71246414, 71246430], [71247111, 71247246], [71248768, 71248865], [71250069, 71250165], [71253819, 71253934]]
NM_001129885	[[71244587, 71244675], [71248768, 71248862], [71250069, 71250165], [71253819, 71253972], [71257071, 71257122], [71257854, 71258019]]	[[71244632, 71244675], [71248768, 71248862], [71250069, 71250165], [71253819, 71253972], [71257071, 71257122], [71257854, 71257957]]

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr17	GH17I073261	73261576	73263575	1.28	[{'connected_gene': 'CPSF4L', 'score': 550.77}, {'connected_gene': 'COG1', 'score': 5.4}, {'connected_gene': 'PIR39589', 'score': 0.44}]
chr17	GH17I073346	73346378	73348323	0.86	[{'connected_gene': 'CPSF4L', 'score': 11.99}, {'connected_gene': 'CDC42EP4', 'score': 11.86}, {'connected_gene': 'FAM104A', 'score': 10.6}, {'connected_gene': 'C17orf80', 'score': 10.59}, {'connected_gene': 'GC17P073336', 'score': 0.39}, {'connected_gene': 'GC17M073289', 'score': 0.39}, {'connected_gene': 'SDK2', 'score': 0.06}]
chr17	GH17I073363	73363769	73364631	0.51	[{'connected_gene': 'CPSF4L', 'score': 12.6}, {'connected_gene': 'CDC42EP4', 'score': 11.97}, {'connected_gene': 'GC17M073289', 'score': 0.77}, {'connected_gene': 'PIR43433', 'score': 0.31}, {'connected_gene': 'SDK2', 'score': 0.06}]
chr17	GH17I073255	73255762	73256001	1.13	[{'connected_gene': 'CPSF4L', 'score': 0.44}, {'connected_gene': 'ENSG00000265010', 'score': 0.39}]
chr17	GH17I073264	73264046	73264401	0.2	[{'connected_gene': 'CPSF4L', 'score': 550.77}, {'connected_gene': 'PIR39589', 'score': 0.44}]
chr17	GH17I073298	73298092	73298890	0.98	[{'connected_gene': 'C17orf80', 'score': 16.14}, {'connected_gene': 'CPSF4L', 'score': 11.74}, {'connected_gene': 'FAM104A', 'score': 11.21}, {'connected_gene': 'GC17M073290', 'score': 0.77}, {'connected_gene': 'GC17M073288', 'score': 0.77}, {'connected_gene': 'CDC42EP4', 'score': 0.39}, {'connected_gene': 'GC17P073281', 'score': 0.37}, {'connected_gene': 'GC17M073289', 'score': 0.21}]
chr17	GH17I073277	73277777	73280115	1.3	[{'connected_gene': 'CDC42EP4', 'score': 12.32}, {'connected_gene': 'FAM104A', 'score': 10.99}, {'connected_gene': 'C17orf80', 'score': 10.97}, {'connected_gene': 'CPSF4L', 'score': 8.41}, {'connected_gene': 'COG1', 'score': 5.22}, {'connected_gene': 'GC17P073281', 'score': 0.77}, {'connected_gene': 'PIR39589', 'score': 0.44}]
chr17	GH17I073283	73283294	73285265	0.86	[{'connected_gene': 'CDC42EP4', 'score': 12.0}, {'connected_gene': 'FAM104A', 'score': 10.87}, {'connected_gene': 'C17orf80', 'score': 10.85}, {'connected_gene': 'CPSF4L', 'score': 9.56}, {'connected_gene': 'GC17P073281', 'score': 0.77}, {'connected_gene': 'GC17M073288', 'score': 0.37}]
chr17	GH17I073268	73268588	73268981	0.66	[{'connected_gene': 'CDC42EP4', 'score': 17.69}, {'connected_gene': 'FAM104A', 'score': 11.52}, {'connected_gene': 'C17orf80', 'score': 11.5}, {'connected_gene': 'PIR39589', 'score': 0.77}, {'connected_gene': 'CPSF4L', 'score': 0.44}]
chr17	GH17I073269	73268428	73268498	0.4	[{'connected_gene': 'CDC42EP4', 'score': 11.77}, {'connected_gene': 'FAM104A', 'score': 11.52}, {'connected_gene': 'C17orf80', 'score': 11.5}, {'connected_gene': 'PIR39589', 'score': 0.77}, {'connected_gene': 'CPSF4L', 'score': 0.44}]
chr17	GH17I073348	73348502	73350156	0.78	[{'connected_gene': 'CDC42EP4', 'score': 12.07}, {'connected_gene': 'CPSF4L', 'score': 11.98}, {'connected_gene': 'FAM104A', 'score': 11.0}, {'connected_gene': 'C17orf80', 'score': 10.99}, {'connected_gene': 'SDK2', 'score': 6.28}, {'connected_gene': 'GC17P073336', 'score': 0.39}, {'connected_gene': 'GC17M073289', 'score': 0.39}]
chr17	GH17I073287	73287895	73295605	1.95	[{'connected_gene': 'CDC42EP4', 'score': 18.85}, {'connected_gene': 'CPSF4L', 'score': 17.01}, {'connected_gene': 'FAM104A', 'score': 11.23}, {'connected_gene': 'C17orf80', 'score': 11.22}, {'connected_gene': 'GC17P073281', 'score': 0.39}, {'connected_gene': 'GC17M073290', 'score': 0.39}, {'connected_gene': 'GC17M073288', 'score': 0.39}, {'connected_gene': 'GC17M073289', 'score': 0.2}]
chr17	GH17I073267	73267631	73268139	0.6	[{'connected_gene': 'CDC42EP4', 'score': 11.82}, {'connected_gene': 'C17orf80', 'score': 5.03}, {'connected_gene': 'PIR39589', 'score': 0.77}, {'connected_gene': 'CPSF4L', 'score': 0.44}]
chr17	GH17I073299	73299361	73301051	0.65	[{'connected_gene': 'GC17M073290', 'score': 550.77}, {'connected_gene': 'GC17M073288', 'score': 550.77}, {'connected_gene': 'CPSF4L', 'score': 11.55}, {'connected_gene': 'FAM104A', 'score': 10.04}, {'connected_gene': 'C17orf80', 'score': 10.03}, {'connected_gene': 'CDC42EP4', 'score': 5.93}, {'connected_gene': 'GC17P073281', 'score': 0.37}, {'connected_gene': 'GC17M073289', 'score': 0.21}]
chr17	GH17I072882	72882470	72882816	0.22	[{'connected_gene': 'ENSG00000252274', 'score': 10.79}, {'connected_gene': 'CPSF4L', 'score': 1.74}, {'connected_gene': 'ENSG00000264196', 'score': 0.26}, {'connected_gene': 'GC17M073068', 'score': 0.09}, {'connected_gene': 'SLC39A11', 'score': 0.08}]
chr17	GH17I072783	72783028	72784031	1.01	[{'connected_gene': 'ENSG00000252274', 'score': 10.78}, {'connected_gene': 'CPSF4L', 'score': 1.39}, {'connected_gene': 'GC17P072787', 'score': 0.77}, {'connected_gene': 'GC17P072756', 'score': 0.31}, {'connected_gene': 'SLC39A11', 'score': 0.06}]
chr17	GH17I073271	73271103	73271621	0.72	[{'connected_gene': 'PIR39589', 'score': 550.77}, {'connected_gene': 'CDC42EP4', 'score': 12.29}, {'connected_gene': 'FAM104A', 'score': 11.52}, {'connected_gene': 'C17orf80', 'score': 11.5}, {'connected_gene': 'CPSF4L', 'score': 0.44}]
chr17	GH17I073280	73280290	73280505	0.2	[{'connected_gene': 'GC17P073281', 'score': 550.77}, {'connected_gene': 'CDC42EP4', 'score': 12.32}, {'connected_gene': 'FAM104A', 'score': 10.99}, {'connected_gene': 'C17orf80', 'score': 10.97}, {'connected_gene': 'CPSF4L', 'score': 9.19}, {'connected_gene': 'PIR39589', 'score': 0.44}]
chr17	GH17I073281	73281633	73282949	0.75	[{'connected_gene': 'GC17P073281', 'score': 550.77}, {'connected_gene': 'CDC42EP4', 'score': 12.0}, {'connected_gene': 'FAM104A', 'score': 10.87}, {'connected_gene': 'C17orf80', 'score': 10.85}, {'connected_gene': 'CPSF4L', 'score': 9.75}, {'connected_gene': 'GC17M073288', 'score': 0.37}]
chr17	GH17I073066	73066994	73070195	1.28	[{'connected_gene': 'GC17M073068', 'score': 550.77}, {'connected_gene': 'ATG12P1', 'score': 550.77}, {'connected_gene': 'SLC39A11', 'score': 22.0}, {'connected_gene': 'CPSF4L', 'score': 1.64}]