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
ENST00000323670	[[30191720, 30193884], [30199160, 30199330], [30206031, 30206161]]	[[30193618, 30193884], [30199160, 30199320]]
ENST00000392276	[[30192069, 30193884], [30206031, 30206128]]	[[30193618, 30193852]]
ENST00000592153	[[30192595, 30193699], [30193754, 30193884], [30199160, 30199330], [30206031, 30206131]]	[[30193665, 30193699], [30193754, 30193884], [30199160, 30199320]]
ENST00000392275	[[30193247, 30193884], [30205813, 30206364]]	None
ENST00000392278	[[30193309, 30193884], [30199160, 30199330], [30205813, 30205963]]	[[30193618, 30193884], [30199160, 30199330], [30205813, 30205836]]
ENST00000591243	[[30193725, 30193884], [30199160, 30199547]]	[[30193725, 30193884], [30199160, 30199320]]
ENST00000342680	[[30193748, 30193884], [30196180, 30196301], [30199160, 30199330], [30206031, 30206182]]	[[30196254, 30196301], [30199160, 30199320]]
NM_001031726	[[30189792, 30193884], [30199160, 30199330], [30205813, 30205963]]	[[30193618, 30193884], [30199160, 30199330], [30205813, 30205836]]
NM_001282929	[[30189792, 30193884], [30205813, 30205963]]	[[30193618, 30193852]]
NM_001282931	[[30189792, 30193884], [30196180, 30196301], [30199160, 30199330], [30206031, 30206452]]	[[30193618, 30193852]]
NM_031448	[[30189792, 30193884], [30199160, 30199330], [30206031, 30206452]]	[[30193618, 30193884], [30199160, 30199320]]
NM_001256046	[[30189792, 30193699], [30193754, 30193884], [30199160, 30199330], [30206031, 30206452]]	[[30193665, 30193699], [30193754, 30193884], [30199160, 30199320]]
NM_001282930	[[30189792, 30193884], [30206031, 30206452]]	[[30193618, 30193852]]
NM_001256047	[[30189792, 30193884], [30199160, 30199330], [30206469, 30206696]]	[[30193618, 30193884], [30199160, 30199320]]

Promoter

Chrom	Start	End	Description
chr19	30199477	30199511	CAGE_peak_5_at_C19orf12_5end
chr19	30199516	30199555	CAGE_peak_4_at_C19orf12_5end
chr19	30199565	30199577	CAGE_peak_8_at_C19orf12_5end
chr19	30199578	30199595	CAGE_peak_7_at_C19orf12_5end
chr19	30199646	30199653	CAGE_peak_15_at_C19orf12_5end
chr19	30206074	30206113	CAGE_peak_2_at_C19orf12_5end
chr19	30206135	30206191	CAGE_peak_1_at_C19orf12_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr19	GH19I029830	29830754	29832163	0.93	[{'connected_gene': 'CCNE1', 'score': 14.9}, {'connected_gene': 'URI1', 'score': 2.16}, {'connected_gene': 'C19orf12', 'score': 1.95}, {'connected_gene': 'PLEKHF1', 'score': 1.68}, {'connected_gene': 'POP4', 'score': 1.44}, {'connected_gene': 'ENSG00000267433', 'score': 0.19}, {'connected_gene': 'GC19P029609', 'score': 0.07}]
chr19	GH19I029759	29759971	29760600	1.13	[{'connected_gene': 'CCNE1', 'score': 17.84}, {'connected_gene': 'URI1', 'score': 11.35}, {'connected_gene': 'C19orf12', 'score': 0.26}, {'connected_gene': 'GC19P029609', 'score': 0.1}]
chr19	GH19I029775	29774234	29774383	0.31	[{'connected_gene': 'CCNE1', 'score': 16.23}, {'connected_gene': 'C19orf12', 'score': 0.22}, {'connected_gene': 'GC19P029609', 'score': 0.1}]
chr19	GH19I029804	29804097	29807661	1.06	[{'connected_gene': 'CCNE1', 'score': 21.19}, {'connected_gene': 'ENSG00000266910', 'score': 12.49}, {'connected_gene': 'C19orf12', 'score': 0.16}, {'connected_gene': 'GC19P029609', 'score': 0.08}]
chr19	GH19I029771	29771794	29771963	0.65	[{'connected_gene': 'CCNE1', 'score': 9.21}, {'connected_gene': 'C19orf12', 'score': 0.22}, {'connected_gene': 'GC19P029609', 'score': 0.1}]
chr19	GH19I029774	29774713	29776318	0.57	[{'connected_gene': 'CCNE1', 'score': 16.22}, {'connected_gene': 'C19orf12', 'score': 0.22}, {'connected_gene': 'GC19P029609', 'score': 0.1}]
chr19	GH19I029798	29798022	29800112	0.57	[{'connected_gene': 'CCNE1', 'score': 20.55}, {'connected_gene': 'C19orf12', 'score': 0.18}, {'connected_gene': 'GC19P029609', 'score': 0.09}]
chr19	GH19I029780	29780938	29783068	0.43	[{'connected_gene': 'CCNE1', 'score': 15.69}, {'connected_gene': 'C19orf12', 'score': 0.2}, {'connected_gene': 'GC19P029609', 'score': 0.09}]
chr19	GH19I029810	29810266	29813001	2.05	[{'connected_gene': 'CCNE1', 'score': 565.33}, {'connected_gene': 'ENSG00000266910', 'score': 11.88}, {'connected_gene': 'RPL9P32', 'score': 10.71}, {'connected_gene': 'C19orf12', 'score': 0.15}, {'connected_gene': 'GC19P029609', 'score': 0.08}]
chr19	GH19I029723	29723674	29724800	0.92	[{'connected_gene': 'C19orf12', 'score': 0.44}, {'connected_gene': 'CCNE1', 'score': 0.17}, {'connected_gene': 'GC19P029609', 'score': 0.14}]
chr19	GH19I029722	29722195	29722336	0.2	[{'connected_gene': 'C19orf12', 'score': 0.44}, {'connected_gene': 'CCNE1', 'score': 0.17}, {'connected_gene': 'GC19P029609', 'score': 0.14}]
chr19	GH19I029721	29721814	29721963	0.2	[{'connected_gene': 'C19orf12', 'score': 0.44}, {'connected_gene': 'CCNE1', 'score': 0.16}, {'connected_gene': 'GC19P029609', 'score': 0.14}]
chr19	GH19I029730	29730574	29730743	0.74	[{'connected_gene': 'C19orf12', 'score': 0.39}, {'connected_gene': 'CCNE1', 'score': 0.18}, {'connected_gene': 'GC19P029609', 'score': 0.13}]
chr19	GH19I029711	29711240	29717303	2.47	[{'connected_gene': 'C19orf12', 'score': 563.55}, {'connected_gene': 'ENSG00000266910', 'score': 24.98}, {'connected_gene': 'URI1', 'score': 14.0}, {'connected_gene': 'RPL9P32', 'score': 13.29}, {'connected_gene': 'POP4', 'score': 10.48}, {'connected_gene': 'GC19M029684', 'score': 0.31}, {'connected_gene': 'GC19P029609', 'score': 0.15}]
chr19	GH19I029679	29679524	29682851	1.39	[{'connected_gene': 'C19orf12', 'score': 8.25}, {'connected_gene': 'PLEKHF1', 'score': 3.71}, {'connected_gene': 'URI1', 'score': 1.22}, {'connected_gene': 'GC19M029684', 'score': 0.44}, {'connected_gene': 'LOC105372353', 'score': 0.37}, {'connected_gene': 'GC19P029609', 'score': 0.19}]
chr19	GH19I029678	29678343	29679323	1.09	[{'connected_gene': 'C19orf12', 'score': 6.36}, {'connected_gene': 'GC19M029684', 'score': 0.44}, {'connected_gene': 'LOC105372353', 'score': 0.39}, {'connected_gene': 'GC19P029609', 'score': 0.2}]
chr19	GH19I029707	29707116	29709811	1.54	[{'connected_gene': 'C19orf12', 'score': 558.4}, {'connected_gene': 'GC19M029684', 'score': 0.34}, {'connected_gene': 'GC19P029609', 'score': 0.15}]
chr19	GH19I029699	29699417	29703708	0.46	[{'connected_gene': 'C19orf12', 'score': 9.31}, {'connected_gene': 'GC19M029684', 'score': 0.39}, {'connected_gene': 'GC19P029609', 'score': 0.16}]
chr19	GH19I029705	29705774	29705923	0.4	[{'connected_gene': 'C19orf12', 'score': 8.63}, {'connected_gene': 'GC19M029684', 'score': 0.37}, {'connected_gene': 'GC19P029609', 'score': 0.15}]
chr19	GH19I029704	29704474	29705485	0.91	[{'connected_gene': 'C19orf12', 'score': 9.3}, {'connected_gene': 'GC19M029684', 'score': 0.37}, {'connected_gene': 'GC19P029609', 'score': 0.15}]
chr19	GH19I029694	29694194	29695133	1.29	[{'connected_gene': 'C19orf12', 'score': 4.92}, {'connected_gene': 'GC19M029684', 'score': 0.44}, {'connected_gene': 'GC19P029609', 'score': 0.17}]
chr19	GH19I029692	29692474	29694085	0.38	[{'connected_gene': 'C19orf12', 'score': 8.48}, {'connected_gene': 'GC19M029684', 'score': 0.44}, {'connected_gene': 'GC19P029609', 'score': 0.18}]
chr19	GH19I029660	29660735	29677952	2.83	[{'connected_gene': 'PLEKHF1', 'score': 564.82}, {'connected_gene': 'RPL9P32', 'score': 54.59}, {'connected_gene': 'ENSG00000266910', 'score': 43.65}, {'connected_gene': 'URI1', 'score': 40.51}, {'connected_gene': 'POP4', 'score': 18.84}, {'connected_gene': 'ZNF536', 'score': 11.88}, {'connected_gene': 'C19orf12', 'score': 10.13}, {'connected_gene': 'LOC105372352', 'score': 9.9}, {'connected_gene': 'LOC105372353', 'score': 0.77}, {'connected_gene': 'GC19M029664', 'score': 0.44}, {'connected_gene': 'GC19M029663', 'score': 0.44}, {'connected_gene': 'GC19M029661', 'score': 0.44}, {'connected_gene': 'GC19M029684', 'score': 0.37}, {'connected_gene': 'GC19P029609', 'score': 0.22}]
chr19	GH19I029696	29696528	29698627	0.69	[{'connected_gene': 'RPL9P32', 'score': 33.28}, {'connected_gene': 'URI1', 'score': 32.2}, {'connected_gene': 'POP4', 'score': 10.5}, {'connected_gene': 'C19orf12', 'score': 9.86}, {'connected_gene': 'GC19M029684', 'score': 0.39}, {'connected_gene': 'GC19P029609', 'score': 0.17}]
chr19	GH19I029686	29686120	29688995	1.41	[{'connected_gene': 'GC19M029684', 'score': 550.77}, {'connected_gene': 'ENSG00000266910', 'score': 25.47}, {'connected_gene': 'URI1', 'score': 23.47}, {'connected_gene': 'RPL9P32', 'score': 20.25}, {'connected_gene': 'POP4', 'score': 11.65}, {'connected_gene': 'C19orf12', 'score': 9.18}, {'connected_gene': 'GC19P029609', 'score': 0.18}]
chr19	GH19I029609	29609869	29611529	0.92	[{'connected_gene': 'GC19P029609', 'score': 550.77}, {'connected_gene': 'C19orf12', 'score': 12.27}, {'connected_gene': 'POP4', 'score': 7.05}, {'connected_gene': 'GC19M029661', 'score': 0.23}]
chr19	GH19I029685	29685007	29685619	0.69	[{'connected_gene': 'GC19M029684', 'score': 550.77}, {'connected_gene': 'C19orf12', 'score': 5.78}, {'connected_gene': 'LOC105372353', 'score': 0.34}, {'connected_gene': 'GC19P029609', 'score': 0.18}]
chr19	GH19I029690	29690661	29691703	1.13	[{'connected_gene': 'ENSG00000266910', 'score': 15.95}, {'connected_gene': 'C19orf12', 'score': 5.38}, {'connected_gene': 'GC19M029684', 'score': 0.77}, {'connected_gene': 'GC19P029609', 'score': 0.18}]