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

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