Hs01451484_cn

• Gene Symbol: DERL1
• Assay Reference Genome Location: Chr.8:123022773 on build GRCh38
• Cytoband: 8q24.13

Target Gene Details

• Entrez Gene ID: 79139
• Gene Name: derlin 1
• Gene Aliases: DER-1, DER1
• Location: Chr.8:123013164-123042423 on Build GRCh38
• Assay Gene Location: Overlaps Intron 5 - Exon 6

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
DERL1	NM_001134671.2			NP_001128143.1
	NM_024295.5			NP_077271.1
	XM_006716657.1			XP_006716720.1
	XM_011517299.1			XP_011515601.1
	AK023846.1
	AK124086.1
	AK303826.1
	AY358818.1			AAQ89177.1
	BC002457.2			AAH02457.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv1032827	Chr.8:122655842 - 123258160 on Build GRCh38	Gain	ZHX1 FAM83A FAM83A-AS1 ZHX2 LINC01151 C8orf76 ZHX1-C8orf76 DERL1 MIR4663 TBC1D31

More Information

• Set Membership: Intragenic, Non-exonic, DGV Variation

Panther Classification:

Molecular Function -

primary active transporter

Gene Ontology Categories:

Process(es)

response to unfolded protein
intracellular transport of viral protein in host cell
ER-associated ubiquitin-dependent protein catabolic process
endoplasmic reticulum unfolded protein response
retrograde protein transport, ER to cytosol
positive regulation of protein ubiquitination
protein destabilization
positive regulation of protein binding
ERAD pathway
establishment of protein localization
protein homooligomerization
ER-associated misfolded protein catabolic process

Function(s)

protease binding
receptor activity
protein binding
ubiquitin protein ligase binding
MHC class I protein binding
ATPase binding
ubiquitin-specific protease binding