Hs03970263_cn

• Gene Symbol: ASPSCR1
• Assay Reference Genome Location: Chr.17:81990379 on build GRCh38
• Cytoband: 17q25.3

Target Gene Details

• Entrez Gene ID: 79058
• Gene Name: ASPSCR1, UBX domain containing tether for SLC2A4
• Gene Aliases: ASPCR1, ASPL, ASPS, RCC17, TUG, UBXD9, UBXN9
• Location: Chr.17:81977550-82018929 on Build GRCh38
• Assay Gene Location: Within Intron 6

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
ASPSCR1	NM_001251888.1			NP_001238817.1
	NM_024083.3			NP_076988.1
	NR_045351.1
	XM_011523601.2			XP_011521903.1
	XM_011523602.2			XP_011521904.1
	XM_017025036.1			XP_016880525.1
	XM_017025037.1			XP_016880526.1
	XM_017025038.1			XP_016880527.1
	XM_017025039.1			XP_016880528.1
	XM_017025040.1			XP_016880529.1
	XM_017025041.1			XP_016880530.1
	XM_017025042.1			XP_016880531.1
	XM_017025043.1			XP_016880532.1
	XM_017025044.1			XP_016880533.1
	AF324219.2			AAK08959.2
	AK057403.1			BAB71472.1
	AK057851.1			BAB71595.1
	AK226086.1
	AK290624.1
	BC006152.1			AAH06152.1
	BC018722.1			AAH18722.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv952392	Chr.17:81885825 - 82065724 on Build GRCh38	Deletion	MAFG RAC3 ALYREF DUS1L NPB LRRC45 STRA13 PYCR1 SIRT7 MYADML2 PCYT2 MAFG-AS1 NOTUM ASPSCR1 DCXR RFNG GPS1 ANAPC11
nsv428351	Chr.17:81152631 - 83064073 on Build GRCh38	Gain	RAC3 FAAP100 ARHGDIA LOC105376790 MCRIP1 LRRC45 FASN FN3KRP GCGR LOC100130370 SECTM1 TEX19 LINC00482 AATK-AS1 NOTUM RFNG GPS1 SLC38A10 MIR3186 LOC101929511 MAFG WDR45B FSCN2 TSPAN10 UTS2R MRPL12 CSNK1D MYADML2 ACTG1 SLC25A10 ASPSCR1 LOC105371925 DCXR LOC105376791 C17orf62 SNORD134 FOXK2 ANAPC11 ALYREF CCDC137 NPLOC4 MIR6787 OGFOD3 TBCD STRA13 C17orf89 PCYT2 MIR4525 ZNF750 MAFG-AS1 B3GNTL1 CEP131 HEXDC LOC101929552 MIR4740 FN3K HGS PPP1R27 CD7 DUS1L MIR6786 NPB ARL16 TEPSIN SLC16A3 AATK BAHCC1 PYCR1 SIRT7 OXLD1 PDE6G TMEM105 RAB40B P4HB NARF CCDC57 LOC105371944
nsv470620	Chr.17:81516973 - 82064485 on Build GRCh38	Loss	RAC3 FAAP100 ALYREF CCDC137 ARHGDIA NPLOC4 MCRIP1 LRRC45 STRA13 GCGR PCYT2 MAFG-AS1 NOTUM RFNG GPS1 HGS PPP1R27 MAFG FSCN2 DUS1L MIR6786 NPB ARL16 TSPAN10 PYCR1 MRPL12 SIRT7 OXLD1 MYADML2 PDE6G SLC25A10 ASPSCR1 DCXR P4HB ANAPC11
nsv833569	Chr.17:81838937 - 82011412 on Build GRCh38	Loss	MAFG ALYREF ARHGDIA NPB PYCR1 SIRT7 MYADML2 PCYT2 MAFG-AS1 NOTUM ASPSCR1 P4HB ANAPC11
esv21913	Chr.17:81828123 - 83103548 on Build GRCh38	Gain+Loss	RAC3 ARHGDIA LOC105376790 MCRIP1 LRRC45 FASN FN3KRP SECTM1 TEX19 NOTUM RFNG GPS1 LOC101929511 METRNL MAFG WDR45B UTS2R CSNK1D MYADML2 ASPSCR1 DCXR LOC105376791 C17orf62 SNORD134 FOXK2 ANAPC11 ALYREF MIR6787 OGFOD3 TBCD STRA13 PCYT2 MIR4525 ZNF750 MAFG-AS1 B3GNTL1 HEXDC LOC101929552 FN3K PPP1R27 CD7 DUS1L NPB SLC16A3 PYCR1 SIRT7 RAB40B P4HB NARF CCDC57 LOC105371944

More Information

Additional Information:

For this assay, SNP(s) [rs111978156] 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)

intracellular protein transport
biological_process
glucose homeostasis
regulation of glucose import

Function(s)

molecular_function
protein binding