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
ENST00000330899	[[33025208, 33025381], [33026472, 33026614], [33026810, 33026988], [33029882, 33029987], [33030437, 33030665], [33034213, 33034328], [33036571, 33036687], [33037012, 33037113], [33038682, 33039905]]	[[33026482, 33026614], [33026810, 33026988], [33029882, 33029987], [33030437, 33030665], [33034213, 33034328], [33036571, 33036687], [33037012, 33037113], [33038682, 33038901]]
ENST00000544625	[[33025272, 33025381], [33026472, 33026614], [33029882, 33029987], [33030437, 33030665], [33034213, 33034328], [33036571, 33036687], [33037012, 33037113], [33038682, 33039220]]	[[33030493, 33030665], [33034213, 33034328], [33036571, 33036687], [33037012, 33037113], [33038682, 33038901]]
ENST00000495015	[[33025283, 33025381], [33034213, 33034328], [33036123, 33036255], [33036571, 33036687], [33037012, 33037113], [33038682, 33038724]]	None
ENST00000465677	[[33034257, 33034328], [33036571, 33036687], [33037012, 33037330]]	None
NM_001314039	[[33025200, 33025381], [33026472, 33026614], [33029882, 33029987], [33030437, 33030665], [33034213, 33034328], [33036571, 33036687], [33037012, 33037113], [33038682, 33039905]]	[[33030493, 33030665], [33034213, 33034328], [33036571, 33036687], [33037012, 33037113], [33038682, 33038901]]
NM_001539	[[33025200, 33025381], [33026472, 33026614], [33026810, 33026988], [33029882, 33029987], [33030437, 33030665], [33034213, 33034328], [33036571, 33036687], [33037012, 33037113], [33038682, 33039905]]	[[33026482, 33026614], [33026810, 33026988], [33029882, 33029987], [33030437, 33030665], [33034213, 33034328], [33036571, 33036687], [33037012, 33037113], [33038682, 33038901]]

Promoter

Chrom	Start	End	Description
chr9	33025263	33025279	CAGE_peak_1_at_DNAJA1_5end
chr9	33026512	33026523	CAGE_peak_4_at_DNAJA1_5end
chr9	33026855	33026873	CAGE_peak_2_at_DNAJA1_5end
chr9	33034310	33034332	CAGE_peak_7_at_DNAJA1_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr9	GH09I033033	33033163	33033388	0.53	[{'connected_gene': 'SMU1', 'score': 12.65}, {'connected_gene': 'LAGE3P1', 'score': 10.68}, {'connected_gene': 'DNAJA1', 'score': 2.23}, {'connected_gene': 'NFX1', 'score': 1.45}, {'connected_gene': 'TOPORS', 'score': 1.34}, {'connected_gene': 'PIR42660', 'score': 0.44}]
chr9	GH09I033028	33028556	33030108	0.83	[{'connected_gene': 'APTX', 'score': 22.88}, {'connected_gene': 'SMU1', 'score': 11.33}, {'connected_gene': 'LAGE3P1', 'score': 10.71}, {'connected_gene': 'RNU4ATAC15P', 'score': 9.88}, {'connected_gene': 'DNAJA1', 'score': 0.77}, {'connected_gene': 'PIR42660', 'score': 0.44}]
chr9	GH09I033032	33032743	33032892	0.57	[{'connected_gene': 'APTX', 'score': 21.36}, {'connected_gene': 'SMU1', 'score': 11.33}, {'connected_gene': 'DNAJA1', 'score': 0.44}, {'connected_gene': 'PIR42660', 'score': 0.44}]
chr9	GH09I032999	32999996	33002915	2.03	[{'connected_gene': 'APTX', 'score': 588.09}, {'connected_gene': 'DNAJA1', 'score': 13.2}, {'connected_gene': 'LAGE3P1', 'score': 10.77}, {'connected_gene': 'SMU1', 'score': 6.33}, {'connected_gene': 'TCEA1P4', 'score': 0.34}]
chr9	GH09I033023	33023378	33027580	2.04	[{'connected_gene': 'APTX', 'score': 575.32}, {'connected_gene': 'DNAJA1', 'score': 550.77}, {'connected_gene': 'TOPORS', 'score': 24.78}, {'connected_gene': 'ENSG00000223440', 'score': 19.15}, {'connected_gene': 'ASS1P12', 'score': 18.3}, {'connected_gene': 'SMU1', 'score': 18.12}, {'connected_gene': 'DDX58', 'score': 15.79}, {'connected_gene': 'DFFBP1', 'score': 12.24}, {'connected_gene': 'NOL6', 'score': 11.6}, {'connected_gene': 'LAGE3P1', 'score': 10.71}, {'connected_gene': 'B4GALT1', 'score': 5.59}, {'connected_gene': 'PIR42660', 'score': 0.39}]
chr9	GH09I032571	32571434	32574211	2.04	[{'connected_gene': 'NDUFB6', 'score': 560.54}, {'connected_gene': 'SMU1', 'score': 34.14}, {'connected_gene': 'DFFBP1', 'score': 23.49}, {'connected_gene': 'DDX58', 'score': 22.61}, {'connected_gene': 'TOPORS', 'score': 20.87}, {'connected_gene': 'B4GALT1', 'score': 10.78}, {'connected_gene': 'DNAJA1', 'score': 10.05}, {'connected_gene': 'APTX', 'score': 10.05}, {'connected_gene': 'ASS1P12', 'score': 9.83}]
chr9	GH09I033051	33051263	33051412	0.31	[{'connected_gene': 'DNAJA1', 'score': 11.94}, {'connected_gene': 'APTX', 'score': 11.94}, {'connected_gene': 'B4GALT1', 'score': 10.5}, {'connected_gene': 'B4GALT1-AS1', 'score': 10.5}, {'connected_gene': 'PIR52670', 'score': 0.44}, {'connected_gene': 'SMU1', 'score': 0.31}]
chr9	GH09I033027	33027956	33028072	0.31	[{'connected_gene': 'DNAJA1', 'score': 0.77}, {'connected_gene': 'PIR42660', 'score': 0.39}]
chr9	GH09I033064	33064972	33066200	0.8	[{'connected_gene': 'SPINK4', 'score': 11.17}, {'connected_gene': 'B4GALT1-AS1', 'score': 11.06}, {'connected_gene': 'B4GALT1', 'score': 11.06}, {'connected_gene': 'DNAJA1', 'score': 10.56}, {'connected_gene': 'APTX', 'score': 10.56}, {'connected_gene': 'BAG1', 'score': 10.52}, {'connected_gene': 'CHMP5', 'score': 10.52}, {'connected_gene': 'NFX1', 'score': 10.05}, {'connected_gene': 'SMU1', 'score': 8.75}, {'connected_gene': 'PIR52670', 'score': 0.34}]
chr9	GH09I033156	33156323	33169432	2.65	[{'connected_gene': 'B4GALT1', 'score': 577.57}, {'connected_gene': 'NFX1', 'score': 19.9}, {'connected_gene': 'NOL6', 'score': 19.1}, {'connected_gene': 'SMU1', 'score': 16.23}, {'connected_gene': 'ASS1P12', 'score': 15.7}, {'connected_gene': 'TOPORS', 'score': 15.58}, {'connected_gene': 'ENSG00000228352', 'score': 13.11}, {'connected_gene': 'DFFBP1', 'score': 12.51}, {'connected_gene': 'UBAP2', 'score': 11.24}, {'connected_gene': 'TCEA1P4', 'score': 10.95}, {'connected_gene': 'DNAJA1', 'score': 10.09}, {'connected_gene': 'ENSG00000223440', 'score': 10.01}, {'connected_gene': 'OSTCP8', 'score': 4.54}, {'connected_gene': 'CHMP5', 'score': 2.82}, {'connected_gene': 'APTX', 'score': 1.39}, {'connected_gene': 'B4GALT1-AS1', 'score': 0.77}, {'connected_gene': 'GC09M033166', 'score': 0.12}, {'connected_gene': 'GC09M033168', 'score': 0.12}, {'connected_gene': 'GC09M033167', 'score': 0.12}]
chr9	GH09I033225	33225317	33226312	1.22	[{'connected_gene': 'B4GALT1-AS1', 'score': 12.05}, {'connected_gene': 'B4GALT1', 'score': 12.05}, {'connected_gene': 'SMU1', 'score': 11.86}, {'connected_gene': 'RNU4ATAC15P', 'score': 11.85}, {'connected_gene': 'DNAJA1', 'score': 10.77}, {'connected_gene': 'APTX', 'score': 10.77}, {'connected_gene': 'SPINK4', 'score': 0.44}, {'connected_gene': 'GC09P033251', 'score': 0.31}, {'connected_gene': 'GC09M033166', 'score': 0.19}, {'connected_gene': 'GC09M033168', 'score': 0.19}, {'connected_gene': 'GC09M033167', 'score': 0.19}]