Hs04467612_cn

• Gene Symbol: ASPSCR1
• Assay Reference Genome Location: Chr.17:81984274 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 5

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