Hs01031143_cn

• Gene Symbol: ASPSCR1
• Assay Reference Genome Location: Chr.17:81985547 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: Overlaps Exon 6 - 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	SIRT7 GPS1 LRRC45 DCXR MAFG-AS1 RAC3 ASPSCR1 RFNG MAFG PYCR1 DUS1L NOTUM STRA13 ANAPC11 ALYREF PCYT2 MYADML2 NPB
nsv428351	Chr.17:81152631 - 83064073 on Build GRCh38	Gain	SIRT7 ZNF750 TBCD HEXDC GPS1 FAAP100 MIR3186 PPP1R27 LOC101929511 C17orf89 LOC100130370 WDR45B C17orf62 RFNG MAFG DUS1L ALYREF PCYT2 UTS2R FN3K SNORD134 OGFOD3 LOC105371944 OXLD1 LINC00482 LOC105371925 SECTM1 CD7 ARHGDIA ACTG1 FSCN2 MIR4525 RAC3 PYCR1 STRA13 ANAPC11 SLC25A10 CEP131 TMEM105 AATK-AS1 TEX19 BAHCC1 TSPAN10 CSNK1D RAB40B LOC101929552 GCGR NARF HGS P4HB DCXR ASPSCR1 NPLOC4 MIR6786 FOXK2 AATK MRPL12 ARL16 CCDC57 LOC105376791 NPB TEPSIN LOC105376790 PDE6G SLC16A3 LRRC45 MIR6787 B3GNTL1 MCRIP1 MAFG-AS1 MIR4740 CCDC137 SLC38A10 NOTUM FASN FN3KRP MYADML2
nsv470620	Chr.17:81516973 - 82064485 on Build GRCh38	Loss	SIRT7 GPS1 FAAP100 TSPAN10 PPP1R27 GCGR HGS P4HB DCXR ASPSCR1 NPLOC4 MIR6786 RFNG MAFG DUS1L MRPL12 ALYREF ARL16 PCYT2 NPB OXLD1 PDE6G LRRC45 ARHGDIA FSCN2 MCRIP1 MAFG-AS1 RAC3 CCDC137 PYCR1 NOTUM STRA13 ANAPC11 SLC25A10 MYADML2
nsv833569	Chr.17:81838937 - 82011412 on Build GRCh38	Loss	SIRT7 ARHGDIA P4HB MAFG-AS1 ASPSCR1 MAFG PYCR1 NOTUM ANAPC11 ALYREF PCYT2 MYADML2 NPB
esv21913	Chr.17:81828123 - 83103548 on Build GRCh38	Gain+Loss	SIRT7 ZNF750 TBCD HEXDC GPS1 PPP1R27 LOC101929511 WDR45B C17orf62 RFNG MAFG DUS1L ALYREF PCYT2 UTS2R FN3K SNORD134 OGFOD3 LOC105371944 SECTM1 CD7 ARHGDIA MIR4525 RAC3 PYCR1 STRA13 ANAPC11 METRNL TEX19 CSNK1D RAB40B LOC101929552 NARF P4HB DCXR ASPSCR1 FOXK2 CCDC57 LOC105376791 NPB LOC105376790 SLC16A3 LRRC45 MIR6787 B3GNTL1 MCRIP1 MAFG-AS1 NOTUM FASN FN3KRP MYADML2

More Information

• Set Membership: Intragenic, 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