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
ENST00000411948	[[244998623, 244999058], [245005245, 245005360], [245005496, 245005560], [245006342, 245008359]]	[[244999016, 244999058], [245005245, 245005360], [245005496, 245005560], [245006342, 245006478]]
ENST00000366528	[[244998917, 244999058], [244999786, 244999822], [245005245, 245005360], [245005496, 245005560], [245006342, 245006554]]	[[244999016, 244999058], [244999786, 244999822], [245005245, 245005360], [245005496, 245005560], [245006342, 245006478]]
ENST00000391839	[[244998957, 244999058], [245005496, 245005560], [245006342, 245007182]]	None
ENST00000498262	[[244998960, 244999058], [245005245, 245005360], [245005500, 245005560], [245006342, 245008359]]	None
ENST00000464757	[[245003048, 245005360], [245005496, 245005560], [245006342, 245006582]]	None
NM_001312871	[[244998607, 244998635], [244998777, 244999058], [245005245, 245005360], [245005496, 245005560], [245006342, 245008365]]	[[244999016, 244999058], [245005245, 245005360], [245005496, 245005560], [245006342, 245006478]]
NM_198076	[[244998630, 244999058], [245005245, 245005360], [245005496, 245005560], [245006342, 245008365]]	[[244999016, 244999058], [245005245, 245005360], [245005496, 245005560], [245006342, 245006478]]
NR_132421	[[244998777, 244999038], [245005500, 245005560], [245006342, 245008365]]	None
NM_001312873	[[244998777, 244999038], [245005496, 245005560], [245006342, 245008365]]	[[244999016, 244999038], [245005496, 245005560], [245006342, 245006478]]
NR_132420	[[244998777, 244999038], [245005245, 245005360], [245005496, 245005560], [245006342, 245008365]]	None
NR_132419	[[244998777, 244999058], [245005496, 245005560], [245006342, 245008365]]	None
NM_001312874	[[244998777, 244999058], [245005245, 245005360], [245005500, 245005560], [245006342, 245008365]]	[[244999016, 244999058], [245005245, 245005360], [245005500, 245005529]]
NM_001312872	[[244998777, 244999058], [244999786, 244999822], [245005245, 245005360], [245005496, 245005560], [245006342, 245008365]]	[[244999016, 244999058], [244999786, 244999822], [245005245, 245005360], [245005496, 245005560], [245006342, 245006478]]

Promoter

Chrom	Start	End	Description
chr1	244998602	244998646	CAGE_peak_3_at_FAM36A_5end
chr1	244998742	244998768	CAGE_peak_4_at_FAM36A_5end
chr1	244998869	244998874	CAGE_peak_10_at_FAM36A_5end
chr1	244998947	244998975	CAGE_peak_1_at_FAM36A_5end
chr1	244998976	244999016	CAGE_peak_2_at_FAM36A_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr1	GH01I244651	244651303	244655158	2.09	[{'connected_gene': 'DESI2', 'score': 550.77}, {'connected_gene': 'HNRNPU', 'score': 22.04}, {'connected_gene': 'LOC101928068', 'score': 17.8}, {'connected_gene': 'COX20', 'score': 11.89}, {'connected_gene': 'RPL37P8', 'score': 0.26}]
chr1	GH01I244734	244734673	244736943	1.09	[{'connected_gene': 'DESI2', 'score': 7.65}, {'connected_gene': 'ADSS', 'score': 1.75}, {'connected_gene': 'ENSG00000282317', 'score': 0.77}, {'connected_gene': 'COX20', 'score': 0.15}]
chr1	GH01I243916	243916004	243918776	1.35	[{'connected_gene': 'LOC339529', 'score': 550.77}, {'connected_gene': 'COX20', 'score': 15.18}, {'connected_gene': 'DESI2', 'score': 14.31}, {'connected_gene': 'AKT3', 'score': 13.29}, {'connected_gene': 'HNRNPU', 'score': 11.14}, {'connected_gene': 'ENSG00000236031', 'score': 9.99}, {'connected_gene': 'SDCCAG8', 'score': 9.68}, {'connected_gene': 'CEP170', 'score': 4.68}]
chr1	GH01I244860	244860199	244866940	2.54	[{'connected_gene': 'HNRNPU', 'score': 653.01}, {'connected_gene': 'ENSG00000273175', 'score': 561.52}, {'connected_gene': 'DESI2', 'score': 80.89}, {'connected_gene': 'COX20', 'score': 34.8}, {'connected_gene': 'LOC101928068', 'score': 29.42}, {'connected_gene': 'ADSS', 'score': 21.4}, {'connected_gene': 'CATSPERE', 'score': 19.79}]
chr1	GH01I244940	244940269	244941677	1.06	[{'connected_gene': 'HNRNPU', 'score': 47.27}, {'connected_gene': 'LOC101928068', 'score': 39.34}, {'connected_gene': 'CATSPERE', 'score': 32.35}, {'connected_gene': 'COX20', 'score': 21.88}, {'connected_gene': 'DESI2', 'score': 10.48}, {'connected_gene': 'GC01P244944', 'score': 0.77}, {'connected_gene': 'ENSG00000273175', 'score': 0.18}]
chr1	GH01I245336	245336144	245337228	0.66	[{'connected_gene': 'HNRNPU', 'score': 27.63}, {'connected_gene': 'LOC101928068', 'score': 13.67}, {'connected_gene': 'COX20', 'score': 11.71}, {'connected_gene': 'KIF26B-AS1', 'score': 10.45}, {'connected_gene': 'DESI2', 'score': 10.15}, {'connected_gene': 'PIR44116', 'score': 0.34}, {'connected_gene': 'LOC105373266', 'score': 0.14}, {'connected_gene': 'KIF26B', 'score': 0.09}]
chr1	GH01I244449	244449526	244453146	2.29	[{'connected_gene': 'CATSPERE', 'score': 560.99}, {'connected_gene': 'ADSS', 'score': 550.77}, {'connected_gene': 'ENSG00000236031', 'score': 27.46}, {'connected_gene': 'HNRNPU', 'score': 21.64}, {'connected_gene': 'DESI2', 'score': 19.66}, {'connected_gene': 'LOC101928068', 'score': 17.78}, {'connected_gene': 'COX20', 'score': 11.85}, {'connected_gene': 'LOC105373264', 'score': 0.37}]
chr1	GH01I244832	244832420	244838776	2.34	[{'connected_gene': 'COX20', 'score': 584.0}, {'connected_gene': 'DESI2', 'score': 38.57}, {'connected_gene': 'HNRNPU', 'score': 37.45}, {'connected_gene': 'ADSS', 'score': 29.37}, {'connected_gene': 'LOC101928068', 'score': 22.86}, {'connected_gene': 'AKT3', 'score': 21.88}]
chr1	GH01I244839	244839910	244842534	0.97	[{'connected_gene': 'COX20', 'score': 15.85}, {'connected_gene': 'RNU6-947P', 'score': 10.73}, {'connected_gene': 'HNRNPU', 'score': 0.34}]
chr1	GH01I244857	244857059	244858826	0.54	[{'connected_gene': 'COX20', 'score': 28.91}, {'connected_gene': 'RNU6-947P', 'score': 11.09}, {'connected_gene': 'HNRNPU', 'score': 0.44}]
chr1	GH01I244855	244854746	244855822	0.43	[{'connected_gene': 'COX20', 'score': 15.36}, {'connected_gene': 'RNU6-947P', 'score': 10.6}, {'connected_gene': 'HNRNPU', 'score': 0.44}]
chr1	GH01I244224	244224201	244226000	0.8	[{'connected_gene': 'COX20', 'score': 14.24}, {'connected_gene': 'ENSG00000236031', 'score': 11.34}, {'connected_gene': 'LOC101928068', 'score': 10.79}, {'connected_gene': 'DESI2', 'score': 10.46}, {'connected_gene': 'HNRNPU', 'score': 10.22}, {'connected_gene': 'GC01M244263', 'score': 0.28}, {'connected_gene': 'LOC105373261', 'score': 0.14}]
chr1	GH01I244789	244789289	244789988	0.31	[{'connected_gene': 'COX20', 'score': 0.25}, {'connected_gene': 'ENSG00000282317', 'score': 0.22}]
chr1	GH01I244782	244782476	244782725	0.22	[{'connected_gene': 'COX20', 'score': 0.23}, {'connected_gene': 'ENSG00000282317', 'score': 0.23}]
chr1	GH01I244815	244815139	244818400	1.04	[{'connected_gene': 'COX20', 'score': 5.83}, {'connected_gene': 'ENSG00000282317', 'score': 0.17}]
chr1	GH01I244739	244739659	244740624	0.71	[{'connected_gene': 'RNU6-947P', 'score': 9.27}, {'connected_gene': 'DESI2', 'score': 5.19}, {'connected_gene': 'ENSG00000282317', 'score': 0.44}, {'connected_gene': 'COX20', 'score': 0.15}]
chr1	GH01I244854	244854176	244854600	1.03	[{'connected_gene': 'RNU6-947P', 'score': 10.59}, {'connected_gene': 'HNRNPU', 'score': 0.39}, {'connected_gene': 'COX20', 'score': 0.37}]
chr1	GH01I244918	244918339	244919642	1.46	[{'connected_gene': 'RNU6-947P', 'score': 12.49}, {'connected_gene': 'COX20', 'score': 11.98}, {'connected_gene': 'LOC101928068', 'score': 10.01}, {'connected_gene': 'EFCAB2', 'score': 6.71}, {'connected_gene': 'GC01P244944', 'score': 0.34}, {'connected_gene': 'ENSG00000273175', 'score': 0.23}]
chr1	GH01I244801	244801299	244801600	0.97	[{'connected_gene': 'RNU6-947P', 'score': 10.3}, {'connected_gene': 'COX20', 'score': 0.29}, {'connected_gene': 'ENSG00000282317', 'score': 0.19}]
chr1	GH01I244046	244046005	244053384	3.01	[{'connected_gene': 'ZBTB18', 'score': 573.21}, {'connected_gene': 'DESI2', 'score': 24.02}, {'connected_gene': 'ENSG00000253326', 'score': 15.36}, {'connected_gene': 'COX20', 'score': 15.18}, {'connected_gene': 'AKT3', 'score': 12.95}, {'connected_gene': 'HNRNPU', 'score': 12.83}, {'connected_gene': 'LINC01347', 'score': 11.61}, {'connected_gene': 'LOC101928068', 'score': 10.02}, {'connected_gene': 'ENSG00000236031', 'score': 9.97}, {'connected_gene': 'ADSS', 'score': 9.75}, {'connected_gene': 'SDCCAG8', 'score': 9.68}, {'connected_gene': 'LOC440742', 'score': 0.39}, {'connected_gene': 'LOC339529', 'score': 0.12}]
chr1	GH01I244967	244967941	244972590	2.34	[{'connected_gene': 'LOC101928068', 'score': 656.12}, {'connected_gene': 'EFCAB2', 'score': 617.26}, {'connected_gene': 'HNRNPU', 'score': 65.18}, {'connected_gene': 'COX20', 'score': 33.49}, {'connected_gene': 'ADSS', 'score': 20.34}, {'connected_gene': 'DESI2', 'score': 11.47}]
chr1	GH01I244732	244732291	244732668	0.37	[{'connected_gene': 'ENSG00000284188', 'score': 550.77}, {'connected_gene': 'ENSG00000282317', 'score': 550.77}, {'connected_gene': 'DESI2', 'score': 5.52}, {'connected_gene': 'EFCAB2', 'score': 1.4}, {'connected_gene': 'ADSS', 'score': 1.38}, {'connected_gene': 'COX20', 'score': 0.15}]
chr1	GH01I244778	244778235	244779061	0.91	[{'connected_gene': 'ENSG00000282317', 'score': 0.25}, {'connected_gene': 'COX20', 'score': 0.22}]
chr1	GH01I244239	244239401	244239800	0.84	[{'connected_gene': 'ENSG00000236031', 'score': 29.8}, {'connected_gene': 'LOC101928068', 'score': 26.94}, {'connected_gene': 'HNRNPU', 'score': 26.76}, {'connected_gene': 'CATSPERE', 'score': 23.63}, {'connected_gene': 'COX20', 'score': 22.37}, {'connected_gene': 'DESI2', 'score': 19.23}, {'connected_gene': 'SDCCAG8', 'score': 18.57}, {'connected_gene': 'AKT3', 'score': 10.42}, {'connected_gene': 'GC01M244263', 'score': 0.34}, {'connected_gene': 'LOC105373262', 'score': 0.17}, {'connected_gene': 'LOC105373261', 'score': 0.13}]
chr1	GH01I244091	244091625	244093685	0.64	[{'connected_gene': 'ENSG00000229960', 'score': 550.77}, {'connected_gene': 'LOC101928068', 'score': 12.71}, {'connected_gene': 'ENSG00000236031', 'score': 11.07}, {'connected_gene': 'COX20', 'score': 9.95}, {'connected_gene': 'RPL37P8', 'score': 4.82}, {'connected_gene': 'EFCAB2', 'score': 4.81}, {'connected_gene': 'LOC440742', 'score': 0.31}]