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
ENST00000503023	[[14664772, 14665086], [14678789, 14678884], [14681572, 14681716], [14687629, 14687755], [14690147, 14690379]]	[[14664934, 14665086], [14678789, 14678814]]
ENST00000284274	[[14664856, 14665086], [14673750, 14673827], [14678789, 14678884], [14681572, 14681716], [14687629, 14687755], [14690147, 14690417], [14692962, 14699820]]	[[14664934, 14665086], [14673750, 14673827], [14678789, 14678884], [14681572, 14681716], [14687629, 14687755], [14690147, 14690417], [14692962, 14693157]]
ENST00000514913	[[14678864, 14678884], [14681572, 14681733], [14687629, 14687755], [14690147, 14690260]]	[[14678864, 14678884], [14681572, 14681733], [14687629, 14687648]]
ENST00000507335	[[14664840, 14665086], [14673750, 14674246]]	None
ENST00000506417	[[14681658, 14681716], [14692962, 14693509]]	[[14681658, 14681716], [14692962, 14693157]]
ENST00000508678	[[14681684, 14681733], [14687629, 14688049]]	None
NM_138348	[[14664753, 14665086], [14673750, 14673827], [14678789, 14678884], [14681572, 14681716], [14687629, 14687755], [14690147, 14690417], [14692962, 14699959]]	[[14664934, 14665086], [14673750, 14673827], [14678789, 14678884], [14681572, 14681716], [14687629, 14687755], [14690147, 14690417], [14692962, 14693157]]

Promoter

Chrom	Start	End	Description
chr5	14664537	14664548	CAGE_peak_9_at_FAM105B_5end
chr5	14664579	14664609	CAGE_peak_2_at_FAM105B_5end
chr5	14664610	14664618	CAGE_peak_11_at_FAM105B_5end
chr5	14664641	14664642	CAGE_peak_20_at_FAM105B_5end
chr5	14664736	14664747	CAGE_peak_3_at_FAM105B_5end
chr5	14664762	14664868	CAGE_peak_1_at_FAM105B_5end
chr5	14664896	14664901	CAGE_peak_12_at_FAM105B_5end
chr5	14664913	14664916	CAGE_peak_10_at_FAM105B_5end
chr5	14664931	14664942	CAGE_peak_6_at_FAM105B_5end
chr5	14664971	14664983	CAGE_peak_7_at_FAM105B_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr5	GH05I014663	14663144	14668961	2.81	[{'connected_gene': 'OTULIN', 'score': 581.52}, {'connected_gene': 'ENSG00000261360', 'score': 550.77}, {'connected_gene': 'TRIO', 'score': 13.63}, {'connected_gene': 'EEF1A1P13', 'score': 12.58}, {'connected_gene': 'RBBP4P1', 'score': 11.74}, {'connected_gene': 'FAM105A', 'score': 2.06}, {'connected_gene': 'GC05P014689', 'score': 0.34}]
chr5	GH05I014353	14353492	14354685	0.69	[{'connected_gene': 'OTULIN', 'score': 4.68}, {'connected_gene': 'GC05P014542', 'score': 0.09}, {'connected_gene': 'TRIO', 'score': 0.08}]
chr5	GH05I014385	14385896	14387414	0.2	[{'connected_gene': 'OTULIN', 'score': 4.61}, {'connected_gene': 'GC05P014542', 'score': 0.1}, {'connected_gene': 'TRIO', 'score': 0.07}]
chr5	GH05I014330	14330801	14332400	0.46	[{'connected_gene': 'OTULIN', 'score': 5.54}, {'connected_gene': 'TRIO', 'score': 0.09}, {'connected_gene': 'GC05P014542', 'score': 0.08}]
chr5	GH05I014674	14674762	14677331	1.45	[{'connected_gene': 'OTULIN', 'score': 16.6}, {'connected_gene': 'FAM105A', 'score': 10.8}, {'connected_gene': 'GC05P014689', 'score': 0.39}]
chr5	GH05I014592	14592317	14596599	1.32	[{'connected_gene': 'OTULIN', 'score': 5.74}, {'connected_gene': 'GC05M014598', 'score': 0.39}, {'connected_gene': 'FAM105A', 'score': 0.39}]
chr5	GH05I014669	14669290	14672800	1.43	[{'connected_gene': 'OTULIN', 'score': 19.86}, {'connected_gene': 'FAM105A', 'score': 1.39}, {'connected_gene': 'GC05P014689', 'score': 0.37}]
chr5	GH05I014600	14600055	14600225	0.62	[{'connected_gene': 'OTULIN', 'score': 3.73}, {'connected_gene': 'GC05M014598', 'score': 0.44}, {'connected_gene': 'FAM105A', 'score': 0.37}]
chr5	GH05I014648	14648400	14648601	0.62	[{'connected_gene': 'OTULIN', 'score': 5.75}, {'connected_gene': 'GC05M014652', 'score': 0.77}, {'connected_gene': 'CCT6P2', 'score': 0.44}]
chr5	GH05I014614	14614434	14616682	0.31	[{'connected_gene': 'OTULIN', 'score': 5.76}, {'connected_gene': 'LOC100422687', 'score': 0.77}, {'connected_gene': 'GC05P014613', 'score': 0.77}, {'connected_gene': 'FAM105A', 'score': 0.29}]
chr5	GH05I014999	14999623	15000023	0.34	[{'connected_gene': 'OTULIN', 'score': 11.78}, {'connected_gene': 'GC05P014993', 'score': 0.44}, {'connected_gene': 'PIR58609', 'score': 0.15}]
chr5	GH05I014673	14673069	14673140	0.56	[{'connected_gene': 'OTULIN', 'score': 0.44}, {'connected_gene': 'GC05P014689', 'score': 0.37}]
chr5	GH05I014439	14438877	14454665	2.04	[{'connected_gene': 'TRIO', 'score': 10.49}, {'connected_gene': 'OTULIN', 'score': 10.29}, {'connected_gene': 'EEF1A1P13', 'score': 10.28}, {'connected_gene': 'GC05P014542', 'score': 0.15}]
chr5	GH05I014163	14163802	14175241	1.67	[{'connected_gene': 'TRIO', 'score': 17.74}, {'connected_gene': 'RBBP4P1', 'score': 13.0}, {'connected_gene': 'OTULIN', 'score': 10.33}, {'connected_gene': 'GC05P014542', 'score': 0.05}]
chr5	GH05I014199	14199443	14214988	1.73	[{'connected_gene': 'TRIO', 'score': 22.99}, {'connected_gene': 'ANKH', 'score': 5.75}, {'connected_gene': 'OTULIN', 'score': 1.63}, {'connected_gene': 'GC05P014542', 'score': 0.05}]
chr5	GH05I014586	14586904	14589872	1.03	[{'connected_gene': 'RBBP4P1', 'score': 15.61}, {'connected_gene': 'OTULIN', 'score': 6.51}, {'connected_gene': 'FAM105A', 'score': 0.44}, {'connected_gene': 'GC05M014598', 'score': 0.37}]
chr5	GH05I014809	14809272	14811541	1.57	[{'connected_gene': 'ANKH', 'score': 11.0}, {'connected_gene': 'OTULIN', 'score': 3.3}, {'connected_gene': 'FAM105A', 'score': 2.25}, {'connected_gene': 'RBBP4P1', 'score': 0.39}, {'connected_gene': 'MIR4637', 'score': 0.37}]
chr5	GH05I014727	14727201	14729869	1.35	[{'connected_gene': 'ANKH', 'score': 12.31}, {'connected_gene': 'OTULIN', 'score': 10.51}, {'connected_gene': 'GC05M014699', 'score': 0.44}, {'connected_gene': 'GC05P014793', 'score': 0.37}]
chr5	GH05I014686	14686132	14687406	0.82	[{'connected_gene': 'ANKH', 'score': 11.72}, {'connected_gene': 'OTULIN', 'score': 6.36}, {'connected_gene': 'GC05P014689', 'score': 0.77}]
chr5	GH05I014685	14685792	14685961	0.94	[{'connected_gene': 'ANKH', 'score': 11.72}, {'connected_gene': 'GC05P014689', 'score': 0.77}, {'connected_gene': 'OTULIN', 'score': 0.34}]
chr5	GH05I014618	14618451	14621121	0.2	[{'connected_gene': 'LOC100422687', 'score': 550.77}, {'connected_gene': 'OTULIN', 'score': 5.74}, {'connected_gene': 'GC05P014613', 'score': 0.44}]
chr5	GH05I014705	14705716	14707716	1.12	[{'connected_gene': 'PIR43381', 'score': 550.77}, {'connected_gene': 'PIR51608', 'score': 550.77}, {'connected_gene': 'PIR46472', 'score': 550.77}, {'connected_gene': 'PIR60605', 'score': 550.77}, {'connected_gene': 'OTULIN', 'score': 11.64}, {'connected_gene': 'GC05M014699', 'score': 0.37}, {'connected_gene': 'ANKH', 'score': 0.1}]
chr5	GH05I014611	14611703	14614199	0.2	[{'connected_gene': 'GC05P014613', 'score': 550.77}, {'connected_gene': 'OTULIN', 'score': 6.06}, {'connected_gene': 'GC05M014598', 'score': 0.44}, {'connected_gene': 'FAM105A', 'score': 0.29}]
chr5	GH05I014695	14695445	14696636	0.81	[{'connected_gene': 'PIR55603', 'score': 550.77}, {'connected_gene': 'GC05M014696', 'score': 550.77}, {'connected_gene': 'PIR37854', 'score': 0.44}, {'connected_gene': 'OTULIN', 'score': 0.29}]
chr5	GH05I014605	14605878	14609477	0.49	[{'connected_gene': 'GC05M014598', 'score': 550.77}, {'connected_gene': 'RBBP4P1', 'score': 10.59}, {'connected_gene': 'OTULIN', 'score': 6.71}, {'connected_gene': 'GC05P014613', 'score': 0.44}, {'connected_gene': 'FAM105A', 'score': 0.31}]
chr5	GH05I014652	14652601	14653400	0.61	[{'connected_gene': 'GC05M014652', 'score': 550.77}, {'connected_gene': 'GC05M014653', 'score': 550.77}, {'connected_gene': 'GC05P014653', 'score': 550.77}, {'connected_gene': 'EEF1A1P13', 'score': 550.77}, {'connected_gene': 'OTULIN', 'score': 11.24}]
chr5	GH05I014710	14710182	14712236	0.46	[{'connected_gene': 'PIR59004', 'score': 550.77}, {'connected_gene': 'LOC100130744', 'score': 550.77}, {'connected_gene': 'PIR48742', 'score': 550.77}, {'connected_gene': 'ANKH', 'score': 11.39}, {'connected_gene': 'GC05M014699', 'score': 0.39}, {'connected_gene': 'OTULIN', 'score': 0.25}]