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
ENST00000402802	[[536894, 538211], [540752, 540879], [550445, 550633], [551987, 552092], [557030, 557127], [558575, 559046]]	[[538200, 538211], [540752, 540879], [550445, 550633], [551987, 552092], [557030, 557127], [558575, 558638]]
ENST00000354513	[[537945, 538211], [540067, 540136], [540752, 540879], [550445, 550633], [551987, 552092], [557030, 557127], [558575, 559031]]	[[540080, 540136], [540752, 540879], [550445, 550633], [551987, 552092], [557030, 557127], [558575, 558638]]
ENST00000400761	[[538129, 538211], [540752, 540879], [550445, 550633], [551987, 552092], [557030, 557127], [558055, 558145]]	[[538200, 538211], [540752, 540879], [550445, 550633], [551987, 552092], [557030, 557127], [558055, 558145]]
ENST00000482462	[[540414, 540879], [550445, 550633], [551987, 553104]]	None
ENST00000405692	[[551993, 552092], [557030, 557127], [558575, 558705], [559596, 559933]]	[[551993, 552092], [557030, 557127], [558575, 558638]]
ENST00000426681	[[552081, 552092], [557030, 557127], [559596, 559845]]	None
NM_002607	[[536894, 538211], [540067, 540136], [540752, 540879], [550445, 550633], [551987, 552092], [557030, 557127], [558575, 559481]]	[[540080, 540136], [540752, 540879], [550445, 550633], [551987, 552092], [557030, 557127], [558575, 558638]]
NM_033023	[[536894, 538211], [540752, 540879], [550445, 550633], [551987, 552092], [557030, 557127], [558575, 559481]]	[[538200, 538211], [540752, 540879], [550445, 550633], [551987, 552092], [557030, 557127], [558575, 558638]]

Promoter

Chrom	Start	End	Description
chr7	558753	558764	CAGE_peak_7_at_PDGFA_5end
chr7	558802	558864	CAGE_peak_1_at_PDGFA_5end
chr7	558876	558892	CAGE_peak_3_at_PDGFA_5end
chr7	559198	559230	CAGE_peak_6_at_PDGFA_5end
chr7	559475	559492	CAGE_peak_2_at_PDGFA_5end
chr7	559679	559704	CAGE_peak_8_at_PDGFA_5end
chr7	559853	559875	CAGE_peak_4_at_PDGFA_5end
chr7	560308	560342	CAGE_peak_10_at_PDGFA_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr7	GH07I000748	748824	749923	0.49	[{'connected_gene': 'DNAAF5', 'score': 23.61}, {'connected_gene': 'PRKAR1B', 'score': 12.97}, {'connected_gene': 'PDGFA', 'score': 11.81}, {'connected_gene': 'HRAT92', 'score': 11.81}, {'connected_gene': 'LOC101926963', 'score': 11.46}, {'connected_gene': 'GC07M000740', 'score': 0.44}, {'connected_gene': 'PIR46616', 'score': 0.31}, {'connected_gene': 'GC07P000777', 'score': 0.31}]
chr7	GH07I000542	542163	543938	1.13	[{'connected_gene': 'CYP2W1', 'score': 10.74}, {'connected_gene': 'GC07P000552', 'score': 0.44}, {'connected_gene': 'PDGFA', 'score': 0.34}]
chr7	GH07I000871	871995	879685	2.54	[{'connected_gene': 'GET4', 'score': 550.77}, {'connected_gene': 'DNAAF5', 'score': 96.81}, {'connected_gene': 'SUN1', 'score': 86.41}, {'connected_gene': 'ENSG00000273230', 'score': 29.66}, {'connected_gene': 'INTS1', 'score': 25.05}, {'connected_gene': 'PSMG3-AS1', 'score': 22.7}, {'connected_gene': 'ENSG00000242474', 'score': 19.0}, {'connected_gene': 'ENSG00000225981', 'score': 14.96}, {'connected_gene': 'PRKAR1B', 'score': 14.53}, {'connected_gene': 'LOC101927021', 'score': 11.31}, {'connected_gene': 'CYP2W1', 'score': 10.84}, {'connected_gene': 'ENSG00000273151', 'score': 10.2}, {'connected_gene': 'PDGFA', 'score': 10.01}, {'connected_gene': 'PIR61037', 'score': 0.39}]
chr7	GH07I000537	537355	540866	1.61	[{'connected_gene': 'PDGFA', 'score': 2.79}, {'connected_gene': 'GET4', 'score': 2.37}, {'connected_gene': 'PRKAR1B', 'score': 1.79}, {'connected_gene': 'DNAAF5', 'score': 1.29}, {'connected_gene': 'GC07P000552', 'score': 0.39}]
chr7	GH07I000511	511667	520913	2.65	[{'connected_gene': 'PDGFA', 'score': 560.77}, {'connected_gene': 'HRAT92', 'score': 49.52}, {'connected_gene': 'GET4', 'score': 2.07}, {'connected_gene': 'GC07P000522', 'score': 0.77}, {'connected_gene': 'ENSG00000234471', 'score': 0.34}]
chr7	GH07I000492	492184	492959	0.31	[{'connected_gene': 'PDGFA', 'score': 18.7}, {'connected_gene': 'HRAT92', 'score': 13.05}, {'connected_gene': 'ENSG00000234471', 'score': 0.77}, {'connected_gene': 'LOC442497', 'score': 0.14}]
chr7	GH07I000348	348003	348230	0.22	[{'connected_gene': 'PDGFA', 'score': 17.19}, {'connected_gene': 'HRAT92', 'score': 12.1}, {'connected_gene': 'GC07P000350', 'score': 0.77}, {'connected_gene': 'GC07M000336', 'score': 0.44}]
chr7	GH07I000529	529843	530460	0.43	[{'connected_gene': 'PDGFA', 'score': 0.44}, {'connected_gene': 'GC07P000552', 'score': 0.34}]
chr7	GH07I000378	378447	381305	0.69	[{'connected_gene': 'LOC442497', 'score': 550.77}, {'connected_gene': 'HRAT92', 'score': 11.57}, {'connected_gene': 'PDGFA', 'score': 11.57}, {'connected_gene': 'ENSG00000234471', 'score': 0.13}]
chr7	GH07I000501	501163	510420	1.32	[{'connected_gene': 'HRAT92', 'score': 28.73}, {'connected_gene': 'PDGFA', 'score': 7.21}, {'connected_gene': 'GET4', 'score': 2.22}, {'connected_gene': 'CYP2W1', 'score': 1.65}, {'connected_gene': 'ENSG00000234471', 'score': 0.44}, {'connected_gene': 'GC07P000522', 'score': 0.39}]
chr7	GH07I000381	381539	382405	0.51	[{'connected_gene': 'HRAT92', 'score': 11.57}, {'connected_gene': 'PDGFA', 'score': 11.57}, {'connected_gene': 'LOC442497', 'score': 0.77}, {'connected_gene': 'ENSG00000234471', 'score': 0.14}]
chr7	GH07I000489	489900	491902	0.92	[{'connected_gene': 'HRAT92', 'score': 41.63}, {'connected_gene': 'PDGFA', 'score': 17.14}, {'connected_gene': 'ENSG00000234471', 'score': 0.44}, {'connected_gene': 'LOC442497', 'score': 0.14}]
chr7	GH07I000376	376270	376559	0.25	[{'connected_gene': 'HRAT92', 'score': 11.57}, {'connected_gene': 'PDGFA', 'score': 11.57}, {'connected_gene': 'LOC442497', 'score': 0.77}, {'connected_gene': 'GC07P000365', 'score': 0.39}]
chr7	GH07I000329	329172	331231	0.4	[{'connected_gene': 'HRAT92', 'score': 11.65}, {'connected_gene': 'PDGFA', 'score': 11.65}, {'connected_gene': 'LOC105375118', 'score': 0.77}, {'connected_gene': 'GC07M000327', 'score': 0.44}, {'connected_gene': 'GC07M000325', 'score': 0.44}]
chr7	GH07I000523	523804	523953	0.94	[{'connected_gene': 'HRAT92', 'score': 58.26}, {'connected_gene': 'PDGFA', 'score': 0.77}, {'connected_gene': 'GC07P000522', 'score': 0.77}, {'connected_gene': 'GC07P000552', 'score': 0.31}]
chr7	GH07I000521	521186	523087	1.12	[{'connected_gene': 'HRAT92', 'score': 599.61}, {'connected_gene': 'PDGFA', 'score': 550.77}, {'connected_gene': 'GC07P000522', 'score': 550.77}, {'connected_gene': 'GC07P000552', 'score': 0.29}]
chr7	GH07I000340	340387	344401	1.05	[{'connected_gene': 'HRAT92', 'score': 12.24}, {'connected_gene': 'PDGFA', 'score': 12.24}, {'connected_gene': 'GC07M000336', 'score': 0.77}, {'connected_gene': 'GC07P000350', 'score': 0.44}]
chr7	GH07I000522	521024	521173	0.76	[{'connected_gene': 'HRAT92', 'score': 550.77}, {'connected_gene': 'PDGFA', 'score': 550.77}, {'connected_gene': 'GC07P000522', 'score': 550.77}, {'connected_gene': 'GC07P000552', 'score': 0.29}]
chr7	GH07I000525	525203	527250	0.64	[{'connected_gene': 'HRAT92', 'score': 12.12}, {'connected_gene': 'ENSG00000249852', 'score': 10.61}, {'connected_gene': 'PDGFA', 'score': 0.44}, {'connected_gene': 'GC07P000522', 'score': 0.44}, {'connected_gene': 'GC07P000552', 'score': 0.31}]
chr7	GH07I000510	510787	511371	0.2	[{'connected_gene': 'HRAT92', 'score': 8.02}, {'connected_gene': 'PDGFA', 'score': 0.44}, {'connected_gene': 'GC07P000522', 'score': 0.44}, {'connected_gene': 'ENSG00000234471', 'score': 0.39}]
chr7	GH07I000485	485818	485953	0.82	[{'connected_gene': 'HRAT92', 'score': 29.02}, {'connected_gene': 'LOC101927000', 'score': 11.94}, {'connected_gene': 'PDGFA', 'score': 4.14}, {'connected_gene': 'GET4', 'score': 1.69}, {'connected_gene': 'ENSG00000234471', 'score': 0.39}, {'connected_gene': 'LOC442497', 'score': 0.14}]
chr7	GH07I000332	332035	334204	1.64	[{'connected_gene': 'LOC105375118', 'score': 550.77}, {'connected_gene': 'HRAT92', 'score': 11.41}, {'connected_gene': 'PDGFA', 'score': 11.41}, {'connected_gene': 'PRKAR1B', 'score': 1.15}, {'connected_gene': 'GC07M000325', 'score': 0.77}, {'connected_gene': 'GC07M000327', 'score': 0.44}]
chr7	GH07I000590	590039	591099	0.2	[{'connected_gene': 'LOC101927000', 'score': 13.39}, {'connected_gene': 'PDGFA', 'score': 12.05}, {'connected_gene': 'HRAT92', 'score': 12.04}, {'connected_gene': 'LOC101926963', 'score': 7.83}, {'connected_gene': 'GC07P000565', 'score': 0.31}, {'connected_gene': 'PRKAR1B', 'score': 0.12}]
chr7	GH07I000587	587238	588414	0.92	[{'connected_gene': 'LOC101927000', 'score': 13.39}, {'connected_gene': 'HRAT92', 'score': 12.05}, {'connected_gene': 'PDGFA', 'score': 12.05}, {'connected_gene': 'PRKAR1B', 'score': 4.83}, {'connected_gene': 'LOC101926963', 'score': 0.37}, {'connected_gene': 'GC07P000565', 'score': 0.34}]
chr7	GH07I000592	592325	592954	0.82	[{'connected_gene': 'LOC101927000', 'score': 13.37}, {'connected_gene': 'HRAT92', 'score': 12.04}, {'connected_gene': 'PDGFA', 'score': 12.04}, {'connected_gene': 'LOC101926963', 'score': 7.64}, {'connected_gene': 'GC07P000565', 'score': 0.31}, {'connected_gene': 'PRKAR1B', 'score': 0.12}]
chr7	GH07I000591	591617	591933	0.58	[{'connected_gene': 'LOC101927000', 'score': 13.37}, {'connected_gene': 'HRAT92', 'score': 12.04}, {'connected_gene': 'PDGFA', 'score': 12.04}, {'connected_gene': 'LOC101926963', 'score': 0.39}, {'connected_gene': 'GC07P000565', 'score': 0.31}, {'connected_gene': 'PRKAR1B', 'score': 0.12}]
chr7	GH07I000548	548478	549810	0.31	[{'connected_gene': 'GC07P000552', 'score': 0.77}, {'connected_gene': 'PDGFA', 'score': 0.31}, {'connected_gene': 'PRKAR1B', 'score': 0.1}]
chr7	GH07I000552	552651	554210	1.28	[{'connected_gene': 'GC07P000552', 'score': 550.77}, {'connected_gene': 'PDGFA', 'score': 9.68}, {'connected_gene': 'HRAT92', 'score': 5.77}, {'connected_gene': 'LOC101927000', 'score': 0.44}, {'connected_gene': 'PRKAR1B', 'score': 0.09}]
chr7	GH07I000495	495873	497173	0.51	[{'connected_gene': 'ENSG00000234471', 'score': 550.77}, {'connected_gene': 'PDGFA', 'score': 17.56}, {'connected_gene': 'HRAT92', 'score': 12.5}, {'connected_gene': 'GC07P000522', 'score': 0.34}]
chr7	GH07I000499	499404	499553	0.51	[{'connected_gene': 'ENSG00000234471', 'score': 0.77}, {'connected_gene': 'PDGFA', 'score': 0.34}, {'connected_gene': 'GC07P000522', 'score': 0.34}]
chr7	GH07I000543	543964	544090	0.58	[{'connected_gene': 'GC07P000552', 'score': 0.44}, {'connected_gene': 'PDGFA', 'score': 0.34}]
chr7	GH07I000494	494201	495014	0.31	[{'connected_gene': 'ENSG00000234471', 'score': 550.77}, {'connected_gene': 'HRAT92', 'score': 19.41}, {'connected_gene': 'PDGFA', 'score': 17.98}, {'connected_gene': 'LOC442497', 'score': 0.13}]
chr7	GH07I000349	348380	349365	0.46	[{'connected_gene': 'GC07P000350', 'score': 550.77}, {'connected_gene': 'HRAT92', 'score': 12.1}, {'connected_gene': 'PDGFA', 'score': 12.1}, {'connected_gene': 'GC07M000336', 'score': 0.39}]
chr7	GH07I000351	351001	352813	0.4	[{'connected_gene': 'GC07P000350', 'score': 550.77}, {'connected_gene': 'HRAT92', 'score': 12.11}, {'connected_gene': 'PDGFA', 'score': 12.11}, {'connected_gene': 'GC07P000365', 'score': 0.39}]
chr7	GH07I000336	336931	338160	0.2	[{'connected_gene': 'GC07M000336', 'score': 550.77}, {'connected_gene': 'GC07M000325', 'score': 550.77}, {'connected_gene': 'HRAT92', 'score': 11.41}, {'connected_gene': 'PDGFA', 'score': 11.41}]