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
ENST00000257189	[[29027757, 29027888], [29036402, 29036438], [29036955, 29037087], [29038407, 29038563], [29038995, 29039140], [29039807, 29039974], [29040795, 29040924], [29041189, 29041375], [29044073, 29044345], [29045280, 29045420], [29046492, 29046717], [29049051, 29049312], [29052246, 29052386], [29052687, 29052751], [29054083, 29054367], [29055608, 29058665]]	[[29027840, 29027888], [29036402, 29036438], [29036955, 29037087], [29038407, 29038563], [29038995, 29039140], [29039807, 29039974], [29040795, 29040924], [29041189, 29041375], [29044073, 29044345], [29045280, 29045420], [29046492, 29046717], [29049051, 29049312], [29052246, 29052386], [29052687, 29052751], [29054083, 29054367], [29055608, 29056223]]
NM_001944	[[29027731, 29027888], [29036402, 29036438], [29036955, 29037087], [29038407, 29038563], [29038995, 29039140], [29039807, 29039974], [29040795, 29040924], [29041189, 29041375], [29044073, 29044345], [29045280, 29045420], [29046492, 29046717], [29049051, 29049312], [29052246, 29052386], [29052687, 29052751], [29054083, 29054367], [29055608, 29058665]]	[[29027840, 29027888], [29036402, 29036438], [29036955, 29037087], [29038407, 29038563], [29038995, 29039140], [29039807, 29039974], [29040795, 29040924], [29041189, 29041375], [29044073, 29044345], [29045280, 29045420], [29046492, 29046717], [29049051, 29049312], [29052246, 29052386], [29052687, 29052751], [29054083, 29054367], [29055608, 29056223]]

Promoter

Chrom	Start	End	Description
chr18	29027653	29027674	CAGE_peak_2_at_DSG3_5end
chr18	29027696	29027774	CAGE_peak_1_at_DSG3_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr18	GH18I031446	31446853	31456243	1.56	[{'connected_gene': 'DSG3', 'score': 564.18}, {'connected_gene': 'DSG1-AS1', 'score': 11.33}, {'connected_gene': 'DSG2', 'score': 7.92}, {'connected_gene': 'DSC3', 'score': 1.76}, {'connected_gene': 'ENSG00000266521', 'score': 0.25}]
chr18	GH18I031440	31440582	31441879	0.2	[{'connected_gene': 'DSG3', 'score': 0.44}, {'connected_gene': 'DSG1-AS1', 'score': 0.39}]
chr18	GH18I031427	31427858	31430563	0.58	[{'connected_gene': 'DSG1-AS1', 'score': 6.09}, {'connected_gene': 'DSG3', 'score': 0.37}]
chr18	GH18I031484	31484538	31484687	0.4	[{'connected_gene': 'ENSG00000266521', 'score': 0.39}, {'connected_gene': 'DSG3', 'score': 0.28}]
chr18	GH18I031480	31480907	31482445	0.2	[{'connected_gene': 'ENSG00000266521', 'score': 0.37}, {'connected_gene': 'DSG3', 'score': 0.29}]
chr18	GH18I031202	31202220	31209381	1.7	[{'connected_gene': 'PIR46251', 'score': 550.77}, {'connected_gene': 'DSC2', 'score': 17.55}, {'connected_gene': 'RNF138', 'score': 10.24}, {'connected_gene': 'DSC1', 'score': 9.61}, {'connected_gene': 'DSC3', 'score': 6.81}, {'connected_gene': 'DSG1', 'score': 5.32}, {'connected_gene': 'DSG3', 'score': 2.51}, {'connected_gene': 'DSG2', 'score': 2.16}, {'connected_gene': 'LOC105372049', 'score': 0.34}]
chr18	GH18I031485	31485539	31491666	1.52	[{'connected_gene': 'ENSG00000266521', 'score': 43.62}, {'connected_gene': 'DSG1-AS1', 'score': 6.47}, {'connected_gene': 'DSG3', 'score': 0.26}]