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

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