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
ENST00000303230	[[45259348, 45262912], [45267190, 45267355], [45303700, 45303941], [45353201, 45353348], [45396593, 45396812], [45461947, 45462109], [45645286, 45645710], [45695770, 45696253]]	[[45262022, 45262912], [45267190, 45267355], [45303700, 45303941], [45353201, 45353348], [45396593, 45396812], [45461947, 45462109], [45645286, 45645710], [45695770, 45696195]]
NM_021072	[[45255051, 45262912], [45267190, 45267355], [45303700, 45303941], [45353201, 45353348], [45396593, 45396812], [45461947, 45462109], [45645286, 45645710], [45695770, 45696220]]	[[45262022, 45262912], [45267190, 45267355], [45303700, 45303941], [45353201, 45353348], [45396593, 45396812], [45461947, 45462109], [45645286, 45645710], [45695770, 45696195]]

Promoter

Chrom	Start	End	Description
chr5	45695872	45695882	CAGE_peak_6_at_HCN1_5end
chr5	45696397	45696427	CAGE_peak_2_at_HCN1_5end
chr5	45696428	45696488	CAGE_peak_1_at_HCN1_5end
chr5	45696499	45696508	CAGE_peak_3_at_HCN1_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr5	GH05I045414	45414393	45416082	0.2	[{'connected_gene': 'HCN1', 'score': 6.98}, {'connected_gene': 'GC05P045508', 'score': 0.16}, {'connected_gene': 'ENSG00000248148', 'score': 0.05}]
chr5	GH05I045599	45599832	45599837	0.22	[{'connected_gene': 'HCN1', 'score': 2.09}, {'connected_gene': 'ENSG00000250017', 'score': 0.31}, {'connected_gene': 'PIR31280', 'score': 0.15}]
chr5	GH05I045695	45695800	45696468	1.62	[{'connected_gene': 'HCN1', 'score': 550.77}, {'connected_gene': 'PIR31280', 'score': 550.77}]
chr5	GH05I045793	45793335	45794848	0.9	[{'connected_gene': 'HCN1', 'score': 8.86}, {'connected_gene': 'ENSG00000250122', 'score': 0.15}]
chr5	GH05I045376	45376599	45376708	0.38	[{'connected_gene': 'GC05P045508', 'score': 0.12}, {'connected_gene': 'HCN1', 'score': 0.06}, {'connected_gene': 'ENSG00000248148', 'score': 0.05}]
chr5	GH05I045847	45847942	45848377	0.31	[{'connected_gene': 'ENSG00000250122', 'score': 0.26}, {'connected_gene': 'HCN1', 'score': 0.1}]
chr5	GH05I045567	45567223	45567976	0.2	[{'connected_gene': 'ENSG00000250017', 'score': 0.44}, {'connected_gene': 'ENSG00000250422', 'score': 0.44}, {'connected_gene': 'HCN1', 'score': 0.13}]
chr5	GH05I045521	45521199	45521308	0.46	[{'connected_gene': 'GC05P045508', 'score': 0.39}, {'connected_gene': 'ENSG00000250422', 'score': 0.28}, {'connected_gene': 'HCN1', 'score': 0.1}]
chr5	GH05I045492	45492519	45492539	0.22	[{'connected_gene': 'GC05P045508', 'score': 0.37}, {'connected_gene': 'HCN1', 'score': 0.08}, {'connected_gene': 'ENSG00000248148', 'score': 0.05}]
chr5	GH05I045385	45385012	45386661	0.76	[{'connected_gene': 'GC05P045508', 'score': 0.13}, {'connected_gene': 'HCN1', 'score': 0.06}, {'connected_gene': 'ENSG00000248148', 'score': 0.05}]