Hs00238641_cn

• Gene Symbol: SPTBN5
• Assay Reference Genome Location: Chr.15:41854223 on build GRCh38
• Cytoband: 15q15.1

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 57 - Exon 58

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_017022301.1			XP_016877790.1
	XM_017022302.1			XP_016877791.1
	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	MAPKBP1 EHD4 LOC105370792 MIR4310 PLA2G4B JMJD7-PLA2G4B JMJD7 SPTBN5
nsv1035998	Chr.15:41806698 - 42142056 on Build GRCh38	Gain	EHD4 MIR4310 PLA2G4D JMJD7 PLA2G4E-AS1 SPTBN5 EHD4-AS1 PLA2G4F MAPKBP1 LOC105370792 PLA2G4E PLA2G4B JMJD7-PLA2G4B
nsv1038933	Chr.15:41846258 - 42016889 on Build GRCh38	Gain	EHD4-AS1 EHD4 LOC105370792 MIR4310 PLA2G4E PLA2G4B JMJD7-PLA2G4B PLA2G4E-AS1 SPTBN5
nsv1050892	Chr.15:41836657 - 41894284 on Build GRCh38	Gain	LOC105370792 MIR4310 PLA2G4B JMJD7-PLA2G4B JMJD7 SPTBN5
nsv1506	Chr.15:41824733 - 41857173 on Build GRCh38	Insertion	MAPKBP1 PLA2G4B JMJD7-PLA2G4B JMJD7 SPTBN5
esv2663665	Chr.15:41854128 - 41855292 on Build GRCh38	Deletion	SPTBN5
nsv952613	Chr.15:41816803 - 41884902 on Build GRCh38	Deletion	MAPKBP1 MIR4310 PLA2G4B JMJD7-PLA2G4B JMJD7 SPTBN5
nsv517631	Chr.15:41804728 - 41895294 on Build GRCh38	Loss	MAPKBP1 LOC105370792 MIR4310 PLA2G4B JMJD7-PLA2G4B JMJD7 SPTBN5
dgv2582n100	Chr.15:41791376 - 41900562 on Build GRCh38	Gain	MAPKBP1 EHD4 LOC105370792 MIR4310 PLA2G4B JMJD7-PLA2G4B JMJD7 SPTBN5

More Information

• Set Membership: Intragenic, 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