Hs03984018_cn

• Gene Symbol: ASPSCR1
• Assay Reference Genome Location: Chr.17:81990697 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-AS1 ASPSCR1 ALYREF DCXR MAFG GPS1 MYADML2 ANAPC11 STRA13 PYCR1 RFNG PCYT2 DUS1L SIRT7 LRRC45 NOTUM RAC3 NPB
nsv428351	Chr.17:81152631 - 83064073 on Build GRCh38	Gain	PPP1R27 P4HB GCGR SECTM1 SLC38A10 LOC100130370 CD7 MIR4525 AATK LOC105376790 MYADML2 CCDC57 C17orf89 OGFOD3 HEXDC UTS2R TSPAN10 FAAP100 LOC105371925 RAC3 FN3K MAFG-AS1 B3GNTL1 SLC25A10 ALYREF DCXR OXLD1 FOXK2 RFNG PCYT2 BAHCC1 MIR6787 DUS1L MIR3186 NARF LRRC45 MRPL12 C17orf62 LOC101929511 SLC16A3 TEPSIN ACTG1 MAFG GPS1 ANAPC11 HGS STRA13 TBCD ZNF750 MIR4740 FASN LINC00482 FN3KRP LOC101929552 NOTUM NPLOC4 MIR6786 LOC105371944 WDR45B ASPSCR1 LOC105376791 TEX19 SNORD134 CSNK1D MCRIP1 PYCR1 ARL16 PDE6G AATK-AS1 TMEM105 ARHGDIA SIRT7 CEP131 FSCN2 CCDC137 RAB40B NPB
nsv470620	Chr.17:81516973 - 82064485 on Build GRCh38	Loss	PPP1R27 P4HB GCGR MAFG GPS1 MYADML2 ANAPC11 HGS STRA13 TSPAN10 FAAP100 NOTUM NPLOC4 RAC3 MIR6786 MAFG-AS1 SLC25A10 ASPSCR1 ALYREF DCXR OXLD1 MCRIP1 PYCR1 ARL16 RFNG PDE6G PCYT2 DUS1L ARHGDIA SIRT7 LRRC45 MRPL12 FSCN2 CCDC137 NPB
nsv833569	Chr.17:81838937 - 82011412 on Build GRCh38	Loss	P4HB MAFG-AS1 ASPSCR1 ALYREF MAFG MYADML2 ANAPC11 PYCR1 PCYT2 ARHGDIA SIRT7 NOTUM NPB
esv21913	Chr.17:81828123 - 83103548 on Build GRCh38	Gain+Loss	PPP1R27 P4HB SECTM1 CD7 MIR4525 LOC105376790 MYADML2 CCDC57 OGFOD3 HEXDC UTS2R RAC3 FN3K MAFG-AS1 B3GNTL1 ALYREF DCXR FOXK2 RFNG PCYT2 MIR6787 DUS1L NARF LRRC45 C17orf62 LOC101929511 SLC16A3 MAFG GPS1 ANAPC11 STRA13 TBCD ZNF750 METRNL FASN FN3KRP LOC101929552 NOTUM LOC105371944 WDR45B ASPSCR1 LOC105376791 TEX19 SNORD134 CSNK1D MCRIP1 PYCR1 ARHGDIA SIRT7 RAB40B NPB

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