Hs04424323_cn

• Gene Symbol: SACS
• Assay Reference Genome Location: Chr.13:23425821 on build GRCh38
• Cytoband: 13q12.12

Target Gene Details

• Entrez Gene ID: 26278
• Gene Name: sacsin molecular chaperone
• Gene Aliases: ARSACS, DNAJC29, PPP1R138, SPAX6
• Location: Chr.13:23328823-23433728 on Build GRCh38
• Assay Gene Location: Within Intron 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
SACS	NM_014363.5			NP_055178.3
	XM_005266338.2			XP_005266395.1
	DB213398.1

Target Gene Details

• Entrez Gene ID: 100506680
• Gene Name: SACS antisense RNA 1
• Gene Aliases: -
• Location: Chr.13:23418971-23428869 on Build GRCh38
• Assay Gene Location: Within Intron 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
SACS-AS1	NR_103450.1
	AK057396.1
	DB022332.1
	DB459589.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv561292	Chr.13:23025847 - 24348376 on Build GRCh38	Loss	C1QTNF9B-AS1 LINC00327 C1QTNF9 SPATA13-AS1 ANKRD20A19P NUS1P3 LINC00566 MIR2276 C1QTNF9B SGCG SACS-AS1 MIPEP TNFRSF19 SACS SPATA13
esv3892311	Chr.13:22674660 - 24411768 on Build GRCh38	Gain	C1QTNF9B-AS1 BASP1P1 LINC00327 LINC00621 C1QTNF9 SPATA13-AS1 LOC105370109 ANKRD20A19P NUS1P3 LINC00566 MIR2276 C1QTNF9B SGCG SACS-AS1 MIPEP TNFRSF19 SACS SPATA13
nsv561334	Chr.13:23324315 - 23510670 on Build GRCh38	Gain	SGCG LINC00327 SACS-AS1 SACS
esv3580576	Chr.13:22945778 - 24362710 on Build GRCh38	Loss	C1QTNF9B-AS1 LINC00327 C1QTNF9 SPATA13-AS1 ANKRD20A19P NUS1P3 LINC00566 MIR2276 C1QTNF9B SGCG SACS-AS1 MIPEP TNFRSF19 SACS SPATA13
esv2422502	Chr.13:22755560 - 24382791 on Build GRCh38	Duplication	C1QTNF9B-AS1 BASP1P1 LINC00327 LINC00621 C1QTNF9 SPATA13-AS1 LOC105370109 ANKRD20A19P NUS1P3 LINC00566 MIR2276 C1QTNF9B SGCG SACS-AS1 MIPEP TNFRSF19 SACS SPATA13
nsv525965	Chr.13:22937442 - 24358507 on Build GRCh38	Gain	C1QTNF9B-AS1 LINC00327 C1QTNF9 SPATA13-AS1 ANKRD20A19P NUS1P3 LINC00566 MIR2276 C1QTNF9B SGCG SACS-AS1 MIPEP TNFRSF19 SACS SPATA13
dgv3084n54	Chr.13:22925582 - 24378278 on Build GRCh38	Gain	C1QTNF9B-AS1 LINC00327 C1QTNF9 SPATA13-AS1 ANKRD20A19P NUS1P3 LINC00566 MIR2276 C1QTNF9B SGCG SACS-AS1 MIPEP TNFRSF19 SACS SPATA13
esv3892319	Chr.13:23325488 - 23598910 on Build GRCh38	Gain	LINC00327 SACS-AS1 TNFRSF19 SACS
nsv521022	Chr.13:23396720 - 23450205 on Build GRCh38	Loss	SACS-AS1 SACS
dgv1615n100	Chr.13:22930769 - 24362849 on Build GRCh38	Gain	C1QTNF9B-AS1 LINC00327 C1QTNF9 SPATA13-AS1 ANKRD20A19P NUS1P3 LINC00566 MIR2276 C1QTNF9B SGCG SACS-AS1 MIPEP TNFRSF19 SACS SPATA13
nsv561336	Chr.13:23422058 - 23453495 on Build GRCh38	Loss	SACS-AS1 SACS
esv3631519	Chr.13:23357936 - 23465792 on Build GRCh38	Gain	SACS-AS1 SACS
esv2751136	Chr.13:22982261 - 24393377 on Build GRCh38	Loss	C1QTNF9B-AS1 LINC00327 C1QTNF9 SPATA13-AS1 ANKRD20A19P NUS1P3 LINC00566 MIR2276 C1QTNF9B SGCG SACS-AS1 MIPEP TNFRSF19 SACS SPATA13

More Information

Additional Information:

For this assay, SNP(s) [rs76930053] 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

Gene Ontology Categories:

Process(es)

protein folding
negative regulation of inclusion body assembly

Function(s)

Hsp70 protein binding
chaperone binding
proteasome binding