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
ENST00000391809	[[51446558, 51447042], [51451895, 51452029], [51452114, 51452371], [51453110, 51453372], [51455840, 51455924], [51456002, 51456070], [51456205, 51456321]]	[[51446886, 51447042], [51451895, 51452029], [51452114, 51452371], [51453110, 51453372], [51455840, 51455913]]
ENST00000336334	[[51446558, 51447042], [51451895, 51452029], [51452114, 51452371], [51453110, 51453372], [51455840, 51455924], [51456002, 51456344]]	[[51446886, 51447042], [51451895, 51452029], [51452114, 51452371], [51453110, 51453372], [51455840, 51455913]]
ENST00000593428	[[51446558, 51447042], [51451895, 51452029], [51452114, 51452371], [51453110, 51453372], [51455840, 51455924], [51456205, 51456349]]	[[51446886, 51447042], [51451895, 51452029], [51452114, 51452371], [51453110, 51453372], [51455840, 51455913]]
ENST00000595585	[[51446563, 51447042], [51451895, 51452371], [51453110, 51453372], [51455840, 51455924]]	None
ENST00000594846	[[51452005, 51452029], [51452114, 51452371], [51453110, 51453372], [51455840, 51455924], [51456153, 51456198]]	[[51452005, 51452029], [51452114, 51452371], [51453110, 51453372], [51455840, 51455913]]
NM_012427	[[51446558, 51447042], [51451895, 51452029], [51452114, 51452371], [51453110, 51453372], [51455840, 51455924], [51456002, 51456344]]	[[51446886, 51447042], [51451895, 51452029], [51452114, 51452371], [51453110, 51453372], [51455840, 51455913]]
NM_001077491	[[51446558, 51447042], [51451895, 51452029], [51452114, 51452371], [51453110, 51453372], [51455840, 51455924], [51456002, 51456070], [51456205, 51456344]]	[[51446886, 51447042], [51451895, 51452029], [51452114, 51452371], [51453110, 51453372], [51455840, 51455913]]
NM_001077492	[[51446558, 51447042], [51451895, 51452029], [51452114, 51452371], [51453110, 51453372], [51455840, 51455924], [51456205, 51456344]]	[[51446886, 51447042], [51451895, 51452029], [51452114, 51452371], [51453110, 51453372], [51455840, 51455913]]

Promoter

Chrom	Start	End	Description
chr19	51456277	51456301	CAGE_peak_1_at_KLK5_5end
chr19	51456331	51456332	CAGE_peak_3_at_KLK5_5end
chr19	51456353	51456364	CAGE_peak_2_at_KLK5_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr19	GH19I050968	50968118	50970074	1.21	[{'connected_gene': 'KLK6', 'score': 562.38}, {'connected_gene': 'ENSG00000267879', 'score': 550.77}, {'connected_gene': 'KLK7', 'score': 11.31}, {'connected_gene': 'KLK5', 'score': 8.89}, {'connected_gene': 'ENSG00000269495', 'score': 5.52}, {'connected_gene': 'ZNF473', 'score': 5.06}, {'connected_gene': 'LOC105372442', 'score': 0.44}]
chr19	GH19I050861	50861215	50863251	0.31	[{'connected_gene': 'KLK2', 'score': 558.69}, {'connected_gene': 'GC19P050860', 'score': 550.77}, {'connected_gene': 'KLK15', 'score': 11.8}, {'connected_gene': 'KLK1', 'score': 11.77}, {'connected_gene': 'LINC01869', 'score': 11.72}, {'connected_gene': 'KLK4', 'score': 11.17}, {'connected_gene': 'C19orf48', 'score': 10.97}, {'connected_gene': 'SNORD88C', 'score': 10.97}, {'connected_gene': 'SNORD88A', 'score': 9.96}, {'connected_gene': 'SNORD88B', 'score': 9.96}, {'connected_gene': 'KLK5', 'score': 5.87}, {'connected_gene': 'KLK3', 'score': 0.44}, {'connected_gene': 'KLKP1', 'score': 0.29}]
chr19	GH19I050951	50951624	50953430	0.96	[{'connected_gene': 'KLK5', 'score': 556.88}, {'connected_gene': 'ENSG00000269495', 'score': 9.76}, {'connected_gene': 'KLK10', 'score': 4.78}]
chr19	GH19I050962	50962245	50962532	0.51	[{'connected_gene': 'LOC105372442', 'score': 550.77}, {'connected_gene': 'ENSG00000279676', 'score': 550.77}, {'connected_gene': 'KLK4', 'score': 14.92}, {'connected_gene': 'SIGLECL1', 'score': 10.52}, {'connected_gene': 'C19orf81', 'score': 9.79}, {'connected_gene': 'KLK14', 'score': 7.6}, {'connected_gene': 'ACP4', 'score': 4.15}, {'connected_gene': 'IGLON5', 'score': 2.1}, {'connected_gene': 'ETFB', 'score': 2.05}, {'connected_gene': 'SYT3', 'score': 1.85}, {'connected_gene': 'KLK6', 'score': 0.44}, {'connected_gene': 'KLK5', 'score': 0.44}, {'connected_gene': 'ENSG00000269495', 'score': 0.39}]