Hs03969062_cn

• Gene Symbol: ASPSCR1
• Assay Reference Genome Location: Chr.17:81987668 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	PYCR1 DCXR STRA13 ASPSCR1 MAFG DUS1L RAC3 LRRC45 MYADML2 RFNG GPS1 MAFG-AS1 NOTUM ALYREF ANAPC11 SIRT7 PCYT2 NPB
nsv428351	Chr.17:81152631 - 83064073 on Build GRCh38	Gain	LOC105371944 NARF BAHCC1 FOXK2 MIR4525 LOC105371925 SLC38A10 GPS1 TBCD ALYREF B3GNTL1 CD7 PPP1R27 MIR4740 TEPSIN SECTM1 LOC105376790 DCXR STRA13 SLC25A10 AATK-AS1 MIR6787 LOC101929511 SLC16A3 C17orf62 C17orf89 SNORD134 GCGR AATK FN3K ARHGDIA MRPL12 ACTG1 RFNG CCDC137 FASN ANAPC11 SIRT7 OGFOD3 FSCN2 NPB HEXDC HGS ASPSCR1 FN3KRP WDR45B DUS1L TSPAN10 LOC105376791 LOC101929552 FAAP100 ZNF750 MYADML2 MCRIP1 TEX19 NPLOC4 MAFG-AS1 PDE6G PCYT2 PYCR1 LINC00482 TMEM105 MAFG RAC3 CCDC57 LRRC45 MIR3186 MIR6786 UTS2R LOC100130370 CSNK1D P4HB NOTUM ARL16 OXLD1 CEP131 RAB40B
nsv470620	Chr.17:81516973 - 82064485 on Build GRCh38	Loss	HGS ASPSCR1 DUS1L TSPAN10 FAAP100 MYADML2 MCRIP1 NPLOC4 GPS1 MAFG-AS1 ALYREF PDE6G PCYT2 PPP1R27 PYCR1 DCXR STRA13 SLC25A10 MAFG RAC3 LRRC45 GCGR ARHGDIA MRPL12 MIR6786 RFNG CCDC137 P4HB NOTUM ANAPC11 SIRT7 ARL16 OXLD1 FSCN2 NPB
nsv833569	Chr.17:81838937 - 82011412 on Build GRCh38	Loss	PYCR1 ASPSCR1 MAFG MYADML2 ARHGDIA P4HB MAFG-AS1 NOTUM ALYREF ANAPC11 SIRT7 PCYT2 NPB
esv21913	Chr.17:81828123 - 83103548 on Build GRCh38	Gain+Loss	LOC105371944 NARF FOXK2 MIR4525 GPS1 TBCD ALYREF B3GNTL1 CD7 PPP1R27 SECTM1 LOC105376790 DCXR STRA13 MIR6787 LOC101929511 SLC16A3 METRNL C17orf62 SNORD134 FN3K ARHGDIA RFNG FASN ANAPC11 SIRT7 OGFOD3 NPB HEXDC ASPSCR1 FN3KRP WDR45B DUS1L LOC105376791 LOC101929552 ZNF750 MYADML2 MCRIP1 TEX19 MAFG-AS1 PCYT2 PYCR1 MAFG RAC3 CCDC57 LRRC45 UTS2R CSNK1D P4HB NOTUM RAB40B

More Information

• 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