Hs00604592_cn

• Gene Symbol: LOC105370792
• Assay Reference Genome Location: Chr.15:41892926 on build GRCh38
• Cytoband: 15q15.1

Target Gene Details

• Entrez Gene ID: 105370792
• Gene Name: uncharacterized LOC105370792
• Gene Aliases: -
• Location: Chr.15:41892777-41898815 on Build GRCh38
• Assay Gene Location: Within Exon 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
LOC105370792	NR_135681.1	1	150
	AK057625.1	1	134
	DA112916.1

Target Gene Details

• Entrez Gene ID: 51332
• Gene Name: spectrin beta, non-erythrocytic 5
• Gene Aliases: BSPECV, HUBSPECV, HUSPECV
• Location: Chr.15:41848146-41894077 on Build GRCh38
• Assay Gene Location: Overlaps Intron 3 - Exon 3

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
SPTBN5	NM_016642.3			NP_057726.4
	XM_017022299.1			XP_016877788.1
	XM_017022300.1			XP_016877789.1
	XM_017022303.1			XP_016877792.1
	XM_017022304.1			XP_016877793.1
	XM_017022305.1			XP_016877794.1
	AF233523.1			AAF65317.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv9244	Chr.15:41818514 - 41916607 on Build GRCh38	Gain	EHD4 JMJD7-PLA2G4B MAPKBP1 SPTBN5 LOC105370792 JMJD7 PLA2G4B MIR4310
nsv1035998	Chr.15:41806698 - 42142056 on Build GRCh38	Gain	EHD4 PLA2G4E PLA2G4D LOC105370792 JMJD7-PLA2G4B PLA2G4F EHD4-AS1 MAPKBP1 SPTBN5 JMJD7 PLA2G4E-AS1 PLA2G4B MIR4310
nsv1038933	Chr.15:41846258 - 42016889 on Build GRCh38	Gain	EHD4 JMJD7-PLA2G4B PLA2G4E EHD4-AS1 SPTBN5 LOC105370792 PLA2G4E-AS1 PLA2G4B MIR4310
nsv1050892	Chr.15:41836657 - 41894284 on Build GRCh38	Gain	JMJD7-PLA2G4B SPTBN5 LOC105370792 JMJD7 PLA2G4B MIR4310
nsv517631	Chr.15:41804728 - 41895294 on Build GRCh38	Loss	JMJD7-PLA2G4B MAPKBP1 SPTBN5 LOC105370792 JMJD7 PLA2G4B MIR4310
dgv2582n100	Chr.15:41791376 - 41900562 on Build GRCh38	Gain	EHD4 JMJD7-PLA2G4B MAPKBP1 SPTBN5 LOC105370792 JMJD7 PLA2G4B MIR4310

More Information

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

Gene Ontology Categories:

Process(es)

MAPK cascade
ER to Golgi vesicle-mediated transport
Golgi organization
lysosomal transport
axon guidance
actin cytoskeleton organization
positive regulation of GTPase activity
protein homooligomerization
actin filament capping

Function(s)

opsin binding
actin binding
Ras guanyl-nucleotide exchange factor activity
protein C-terminus binding
kinesin binding
spectrin binding
myosin tail binding
dynactin binding
protein self-association
dynein intermediate chain binding
protein heterodimerization activity
actin filament binding