Hs03965446_cn

• Gene Symbol: ASPSCR1
• Assay Reference Genome Location: Chr.17:81986562 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	STRA13 ANAPC11 GPS1 ASPSCR1 PCYT2 SIRT7 MYADML2 DUS1L RFNG NOTUM RAC3 MAFG-AS1 MAFG PYCR1 DCXR ALYREF LRRC45 NPB
nsv428351	Chr.17:81152631 - 83064073 on Build GRCh38	Gain	ANAPC11 PDE6G TEPSIN OGFOD3 CCDC57 ASPSCR1 FOXK2 BAHCC1 HEXDC TMEM105 NPLOC4 MYADML2 GCGR RAB40B MRPL12 P4HB STRA13 SECTM1 GPS1 CEP131 SIRT7 SLC25A10 LOC105371944 FN3K NARF C17orf62 AATK DUS1L RFNG TSPAN10 ZNF750 RAC3 MAFG-AS1 OXLD1 HGS FAAP100 MAFG PYCR1 LOC105376790 PPP1R27 ARHGDIA FN3KRP TEX19 PCYT2 WDR45B UTS2R SLC38A10 ARL16 LOC100130370 LOC101929552 TBCD FSCN2 FASN NOTUM ALYREF NPB SNORD134 LOC105376791 LOC105371925 ACTG1 CCDC137 MIR4525 MCRIP1 AATK-AS1 LINC00482 CD7 MIR6786 CSNK1D SLC16A3 LOC101929511 MIR4740 B3GNTL1 C17orf89 MIR3186 MIR6787 DCXR LRRC45
nsv470620	Chr.17:81516973 - 82064485 on Build GRCh38	Loss	ANAPC11 ARHGDIA PDE6G ASPSCR1 PCYT2 NPLOC4 ARL16 MYADML2 GCGR FSCN2 NOTUM MRPL12 ALYREF NPB P4HB STRA13 GPS1 CCDC137 MCRIP1 SIRT7 SLC25A10 MIR6786 DUS1L RFNG TSPAN10 RAC3 MAFG-AS1 OXLD1 HGS FAAP100 MAFG PYCR1 DCXR LRRC45 PPP1R27
nsv833569	Chr.17:81838937 - 82011412 on Build GRCh38	Loss	ANAPC11 ARHGDIA ASPSCR1 PCYT2 SIRT7 MYADML2 NOTUM MAFG-AS1 MAFG PYCR1 ALYREF NPB P4HB
esv21913	Chr.17:81828123 - 83103548 on Build GRCh38	Gain+Loss	ANAPC11 OGFOD3 CCDC57 ASPSCR1 FOXK2 HEXDC MYADML2 RAB40B P4HB STRA13 SECTM1 GPS1 SIRT7 LOC105371944 FN3K NARF C17orf62 DUS1L RFNG ZNF750 RAC3 MAFG-AS1 MAFG PYCR1 LOC105376790 PPP1R27 ARHGDIA FN3KRP TEX19 PCYT2 WDR45B UTS2R LOC101929552 TBCD FASN NOTUM ALYREF NPB SNORD134 LOC105376791 MIR4525 MCRIP1 CD7 CSNK1D METRNL SLC16A3 LOC101929511 B3GNTL1 MIR6787 DCXR LRRC45

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