Hs03941467_cn

• Gene Symbol: SPG7
• Assay Reference Genome Location: Chr.16:89521926 on build GRCh38
• Cytoband: 16q24.3

Target Gene Details

• Entrez Gene ID: 6687
• Gene Name: SPG7, paraplegin matrix AAA peptidase subunit
• Gene Aliases: CAR, CMAR, PGN, SPG5C
• Location: Chr.16:89508379-89557768 on Build GRCh38
• Assay Gene Location: Within Intron 3

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
SPG7	NM_003119.3			NP_003110.1
	NM_199367.2			NP_955399.1
	XM_005256321.4			XP_005256378.1
	XM_006721264.3			XP_006721327.1
	XM_017023597.1			XP_016879086.1
	XM_017023598.1			XP_016879087.1
	XM_017023599.1			XP_016879088.1
	BC035929.2			AAH35929.1
	BC036104.1			AAH36104.1
	BI827568.1
	HY006239.1
	Y16610.1			CAA76314.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
esv3639586	Chr.16:89514722 - 89527655 on Build GRCh38	Gain	SPG7
esv3639584	Chr.16:89504768 - 89531669 on Build GRCh38	Loss	SPG7
esv2758670	Chr.16:89376499 - 89585740 on Build GRCh38	Gain	SNORD68 ANKRD11 SPG7 CPNE7 LOC101927817 RPL13
nsv428331	Chr.16:89216635 - 90185980 on Build GRCh38	Gain+Loss	FANCA TCF25 AFG3L1P VPS9D1-AS1 PRDM7 RPL13 SPIRE2 SNORD68 DBNDD1 ZNF276 CENPBD1 URAHP CHMP1A LOC105371419 GAS8 GAS8-AS1 VPS9D1 SPG7 ANKRD11 LOC100287036 SPATA2L CDK10 ZNF778 DEF8 MC1R DPEP1 CPNE7 LOC101927817 FAM157C LOC107984817 TUBB8P7 LOC105371414 TUBB3 SPATA33
nsv471118	Chr.16:89446826 - 89600929 on Build GRCh38	Gain	SNORD68 ANKRD11 SPG7 CPNE7 LOC101927817 RPL13
nsv1063483	Chr.16:89347250 - 89661187 on Build GRCh38	Gain	SNORD68 ANKRD11 CHMP1A SPG7 DPEP1 CPNE7 LOC101927817 RPL13 SPATA33
nsv482951	Chr.16:88633593 - 90228345 on Build GRCh38	Loss	LOC101927793 LINC00304 RNF166 TRAPPC2L ACSF3 FANCA TCF25 VPS9D1-AS1 RPL13 SPIRE2 SNORD68 DBNDD1 ZNF276 CENPBD1 PIEZO1 CHMP1A VPS9D1 GALNS SPG7 CDH15 SNAI3 LOC400558 LOC100287036 SPATA2L CBFA2T3 LOC107987238 LOC105371414 IL17C CDT1 AFG3L1P PRDM7 CYBA SNAI3-AS1 URAHP LOC105371419 GAS8 GAS8-AS1 LOC100289580 CTU2 MVD LOC339059 ANKRD11 PABPN1L CDK10 ZNF778 DEF8 MC1R DPEP1 SLC22A31 CPNE7 LOC101927817 LOC105371409 FAM157C MIR4722 LOC107984817 TUBB8P7 LOC100129697 TUBB3 SPATA33 APRT
nsv509639	Chr.16:89513538 - 89775915 on Build GRCh38	Insertion	FANCA SPATA2L CDK10 DPEP1 CPNE7 VPS9D1-AS1 RPL13 SNORD68 ZNF276 CHMP1A VPS9D1 SPG7 SPATA33

More Information

Additional Information:

For this assay, SNP(s) [rs113690812] 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, Intronic, Non-exonic, DGV Variation

Panther Classification:

Molecular Function -

metalloprotease

Gene Ontology Categories:

Process(es)

proteolysis
mitochondrion organization
cell adhesion
nervous system development
anterograde axonal transport

Function(s)

ATP-dependent peptidase activity
metalloendopeptidase activity
protein binding
ATP binding
peptidase activity
zinc ion binding
unfolded protein binding