Hs03550996_cn

• Gene Symbol: SQSTM1
• Assay Reference Genome Location: Chr.5:179812908 on build GRCh38
• Cytoband: 5q35.3

Target Gene Details

• Entrez Gene ID: 8878
• Gene Name: sequestosome 1
• Gene Aliases: A170, FTDALS3, OSIL, PDB3, ZIP3, p60, p62, p62B
• Location: Chr.5:179806388-179838078 on Build GRCh38
• Assay Gene Location: Within Exon 4

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
SQSTM1	NM_001142298.1			NP_001135770.1
	NM_001142299.1			NP_001135771.1
	XM_011534683.2	3	1125	XP_011532985.1
	AK093109.1	3	1715
	AK096241.1
	AK226167.1
	BC001874.1			AAH01874.1
	BI549805.1
	DA541885.1

Target Copy Number Variation Details

• DGV Version: Release date: 2016-05-15, GRCh GRCh38

Target Variation	Location	CNV Subtype	Genes
nsv469579	Chr.5:179757830 - 179933191 on Build GRCh38	Loss	LOC100996419 MGAT4B SQSTM1 MIR1229 RNF130 TBC1D9B MAML1 C5orf45 LTC4S
nsv600668	Chr.5:179800865 - 179815581 on Build GRCh38	Loss	MGAT4B SQSTM1
esv988291	Chr.5:179806076 - 179813737 on Build GRCh38	Deletion	MGAT4B SQSTM1
esv3570596	Chr.5:179804973 - 179813403 on Build GRCh38	Loss	MGAT4B SQSTM1
nsv823361	Chr.5:179786323 - 179824243 on Build GRCh38	Loss	MGAT4B SQSTM1 MIR1229 LTC4S

More Information

Additional Information:

For this assay, SNP(s) [rs555215408,rs73351626] are located under a primer or probe sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.

• Set Membership: Intragenic, Exonic, DGV Variation

Gene Ontology Categories:

Process(es)

mitophagy
positive regulation of protein phosphorylation
immune system process
protein phosphorylation
ubiquitin-dependent protein catabolic process
autophagy
apoptotic process
response to stress
protein localization
regulation of mitochondrion organization
endosomal transport
macroautophagy
positive regulation of macroautophagy
cell differentiation
intracellular signal transduction
positive regulation of apoptotic process
negative regulation of apoptotic process
regulation of I-kappaB kinase/NF-kappaB signaling
negative regulation of growth of symbiont in host
positive regulation of transcription from RNA polymerase II promoter
regulation of Ras protein signal transduction
protein heterooligomerization
regulation of protein complex stability
mitophagy in response to mitochondrial depolarization

Function(s)

protein serine/threonine kinase activity
protein kinase C binding
protein binding
zinc ion binding
protein kinase binding
receptor tyrosine kinase binding
ubiquitin protein ligase binding
SH2 domain binding
identical protein binding
protein homodimerization activity
ubiquitin binding
K63-linked polyubiquitin binding