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
ENST00000367462	[[190066791, 190068264], [190129797, 190130020], [190195211, 190195448], [190203501, 190203607], [190233994, 190234185], [190250689, 190250880], [190423784, 190424070], [190446577, 190446759]]	[[190067147, 190068264], [190129797, 190130020], [190195211, 190195448], [190203501, 190203607], [190233994, 190234185], [190250689, 190250880], [190423784, 190424020]]
ENST00000534846	[[190066796, 190068264], [190129797, 190130020], [190195211, 190195448], [190203501, 190203607], [190233994, 190234185], [190423784, 190424070], [190444909, 190444942]]	[[190067147, 190068264], [190129797, 190130020], [190195211, 190195448], [190203501, 190203607], [190233994, 190234185], [190423784, 190423905]]
ENST00000463404	[[190186081, 190186204], [190195211, 190195326]]	None
ENST00000445957	[[190423936, 190424070], [190443537, 190443931]]	[[190423936, 190424020]]
NM_001317188	[[190066796, 190068264], [190129797, 190130020], [190195211, 190195448], [190203501, 190203607], [190233994, 190234185], [190423784, 190424070], [190444909, 190445140]]	[[190067147, 190068264], [190129797, 190130020], [190195211, 190195448], [190203501, 190203607], [190233994, 190234185], [190423784, 190423905]]
NM_199051	[[190066796, 190068264], [190129797, 190130020], [190195211, 190195448], [190203501, 190203607], [190233994, 190234185], [190250689, 190250880], [190423784, 190424070], [190446577, 190447012]]	[[190067147, 190068264], [190129797, 190130020], [190195211, 190195448], [190203501, 190203607], [190233994, 190234185], [190250689, 190250880], [190423784, 190424020]]

Promoter

Chrom	Start	End	Description
chr1	190443818	190443836	CAGE_peak_9_at_FAM5C_5end
chr1	190443933	190443982	CAGE_peak_2_at_FAM5C_5end
chr1	190445111	190445122	CAGE_peak_15_at_FAM5C_5end
chr1	190446662	190446678	CAGE_peak_6_at_FAM5C_5end
chr1	190446698	190446710	CAGE_peak_10_at_FAM5C_5end
chr1	190446762	190446774	CAGE_peak_4_at_FAM5C_5end
chr1	190446924	190446931	CAGE_peak_8_at_FAM5C_5end
chr1	190446947	190446956	CAGE_peak_5_at_FAM5C_5end
chr1	190446983	190447001	CAGE_peak_1_at_FAM5C_5end
chr1	190447009	190447020	CAGE_peak_7_at_FAM5C_5end
chr1	190447030	190447044	CAGE_peak_3_at_FAM5C_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr1	GH01I190596	190596243	190598519	0.43	[{'connected_gene': 'BRINP3', 'score': 4.61}, {'connected_gene': 'LINC01720', 'score': 0.31}, {'connected_gene': 'ENSG00000241505', 'score': 0.13}]
chr1	GH01I190709	190709265	190709620	0.25	[{'connected_gene': 'BRINP3', 'score': 3.76}, {'connected_gene': 'GC01M190635', 'score': 0.22}, {'connected_gene': 'ENSG00000236025', 'score': 0.19}, {'connected_gene': 'LINC01720', 'score': 0.18}]
chr1	GH01I190188	190188506	190188744	0.22	[{'connected_gene': 'BRINP3', 'score': 1.97}, {'connected_gene': 'LOC105371659', 'score': 0.26}, {'connected_gene': 'GC01M190133', 'score': 0.25}]
chr1	GH01I190473	190473669	190479870	1.73	[{'connected_gene': 'BRINP3', 'score': 560.69}, {'connected_gene': 'LINC01351', 'score': 550.77}, {'connected_gene': 'GC01M190277', 'score': 0.28}]
chr1	GH01I190459	190459750	190459809	0.5	[{'connected_gene': 'BRINP3', 'score': 550.37}, {'connected_gene': 'LINC01351', 'score': 0.37}, {'connected_gene': 'GC01M190277', 'score': 0.37}]
chr1	GH01I189657	189657811	189657960	0.43	[{'connected_gene': 'BRINP3', 'score': 3.83}, {'connected_gene': 'RNA5SP73', 'score': 0.44}, {'connected_gene': 'PIR32764', 'score': 0.29}, {'connected_gene': 'GC01M189625', 'score': 0.29}]
chr1	GH01I189658	189658491	189658640	0.43	[{'connected_gene': 'BRINP3', 'score': 3.83}, {'connected_gene': 'RNA5SP73', 'score': 0.44}, {'connected_gene': 'PIR32764', 'score': 0.29}, {'connected_gene': 'GC01M189625', 'score': 0.29}]
chr1	GH01I190317	190317168	190317287	0.27	[{'connected_gene': 'GC01P190318', 'score': 550.77}, {'connected_gene': 'BRINP3', 'score': 3.55}, {'connected_gene': 'LOC105371658', 'score': 0.23}, {'connected_gene': 'ENSG00000225811', 'score': 0.23}, {'connected_gene': 'GC01M190194', 'score': 0.18}, {'connected_gene': 'GC01M190277', 'score': 0.13}]
chr1	GH01I190172	190172400	190174136	0.31	[{'connected_gene': 'GC01M190133', 'score': 0.29}, {'connected_gene': 'LOC105371659', 'score': 0.22}, {'connected_gene': 'BRINP3', 'score': 0.06}]
chr1	GH01I190168	190168251	190170314	0.57	[{'connected_gene': 'GC01M190133', 'score': 0.31}, {'connected_gene': 'LOC105371659', 'score': 0.22}, {'connected_gene': 'BRINP3', 'score': 0.06}]