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
ENST00000592383	[[41052813, 41053123], [41055947, 41056057], [41059616, 41059645], [41061319, 41061435], [41062931, 41063353]]	[[41052893, 41053123], [41055947, 41056057], [41059616, 41059645], [41061319, 41061435], [41062931, 41062977]]
ENST00000253801	[[41052814, 41053123], [41055947, 41056057], [41059539, 41059645], [41061319, 41061435], [41062931, 41065386]]	[[41052893, 41053123], [41055947, 41056057], [41059539, 41059645], [41061319, 41061435], [41062931, 41063443]]
ENST00000585489	[[41052816, 41053123], [41055947, 41056057], [41059539, 41059645], [41062931, 41063505]]	[[41052893, 41053123], [41055947, 41056057], [41059539, 41059645], [41062931, 41062977]]
ENST00000588481	[[41052828, 41053123], [41055947, 41056256]]	None
NM_001270397	[[41052813, 41053123], [41055947, 41056057], [41059616, 41059645], [41061319, 41061435], [41062931, 41066450]]	[[41052893, 41053123], [41055947, 41056057], [41059616, 41059645], [41061319, 41061435], [41062931, 41062977]]
NM_000151	[[41052813, 41053123], [41055947, 41056057], [41059539, 41059645], [41061319, 41061435], [41062931, 41066450]]	[[41052893, 41053123], [41055947, 41056057], [41059539, 41059645], [41061319, 41061435], [41062931, 41063443]]

Promoter

Chrom	Start	End	Description
chr17	41052808	41052826	CAGE_peak_1_at_G6PC_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr17	GH17I042925	42925001	42925200	0.2	[{'connected_gene': 'AOC3', 'score': 12.1}, {'connected_gene': 'AOC2', 'score': 12.09}, {'connected_gene': 'CNTD1', 'score': 10.81}, {'connected_gene': 'COA3', 'score': 10.81}, {'connected_gene': 'VAT1', 'score': 10.59}, {'connected_gene': 'RND2', 'score': 10.59}, {'connected_gene': 'BECN1', 'score': 4.77}, {'connected_gene': 'RNY4P2', 'score': 0.44}, {'connected_gene': 'GC17M042933', 'score': 0.44}, {'connected_gene': 'G6PC', 'score': 0.34}]
chr17	GH17I042917	42917304	42917453	0.46	[{'connected_gene': 'RNY4P2', 'score': 0.37}, {'connected_gene': 'GC17M042933', 'score': 0.37}, {'connected_gene': 'G6PC', 'score': 0.37}]
chr17	GH17I042918	42918726	42921598	0.9	[{'connected_gene': 'MLX', 'score': 5.81}, {'connected_gene': 'BECN1', 'score': 4.99}, {'connected_gene': 'RNY4P2', 'score': 0.39}, {'connected_gene': 'GC17M042933', 'score': 0.39}, {'connected_gene': 'G6PC', 'score': 0.37}]
chr17	GH17I042878	42878264	42878413	0.75	[{'connected_gene': 'LINC00671', 'score': 13.24}, {'connected_gene': 'G6PC', 'score': 13.24}, {'connected_gene': 'AOC3', 'score': 12.53}, {'connected_gene': 'AOC2', 'score': 12.52}, {'connected_gene': 'RNU6-287P', 'score': 0.39}, {'connected_gene': 'AOC4P', 'score': 0.39}]
chr17	GH17I042913	42913574	42914613	0.56	[{'connected_gene': 'G6PC', 'score': 0.39}, {'connected_gene': 'RNY4P2', 'score': 0.37}, {'connected_gene': 'GC17M042933', 'score': 0.37}]
chr17	GH17I042928	42928162	42929973	1.2	[{'connected_gene': 'G6PC', 'score': 13.31}, {'connected_gene': 'LINC00671', 'score': 13.3}, {'connected_gene': 'RNU6-287P', 'score': 13.28}, {'connected_gene': 'AOC3', 'score': 12.38}, {'connected_gene': 'AOC2', 'score': 12.37}, {'connected_gene': 'CNTD1', 'score': 10.8}, {'connected_gene': 'COA3', 'score': 10.8}, {'connected_gene': 'VPS25', 'score': 10.73}, {'connected_gene': 'RAMP2-AS1', 'score': 10.72}, {'connected_gene': 'HMGN2P15', 'score': 10.72}, {'connected_gene': 'RAMP2', 'score': 10.72}, {'connected_gene': 'VAT1', 'score': 10.6}, {'connected_gene': 'RND2', 'score': 10.6}, {'connected_gene': 'ZNF385C', 'score': 4.61}, {'connected_gene': 'RNY4P2', 'score': 0.77}, {'connected_gene': 'GC17M042933', 'score': 0.77}]
chr17	GH17I042901	42901504	42902286	0.43	[{'connected_gene': 'GC17M042880', 'score': 550.77}, {'connected_gene': 'G6PC', 'score': 550.77}, {'connected_gene': 'NAGLU', 'score': 4.2}, {'connected_gene': 'RNY4P2', 'score': 0.29}, {'connected_gene': 'GC17M042933', 'score': 0.29}]
chr17	GH17I042900	42900204	42901388	1.4	[{'connected_gene': 'GC17M042880', 'score': 550.77}, {'connected_gene': 'G6PC', 'score': 550.77}]