Hs03986004_cn

• Gene Symbol: ASPSCR1
• Assay Reference Genome Location: Chr.17:81988688 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	LRRC45 ANAPC11 GPS1 STRA13 DUS1L SIRT7 NOTUM RAC3 MAFG NPB MYADML2 PYCR1 PCYT2 DCXR ALYREF MAFG-AS1 RFNG ASPSCR1
nsv428351	Chr.17:81152631 - 83064073 on Build GRCh38	Gain	STRA13 UTS2R NOTUM SECTM1 SLC25A10 FAAP100 WDR45B FASN LOC105376790 MIR6786 LINC00482 TBCD NPLOC4 P4HB OGFOD3 MIR4525 TSPAN10 ARHGDIA ARL16 ANAPC11 GPS1 DUS1L SIRT7 LOC105371944 GCGR PYCR1 CSNK1D ALYREF CCDC57 RFNG ASPSCR1 MCRIP1 HGS TMEM105 LRRC45 FN3KRP MIR3186 FOXK2 B3GNTL1 OXLD1 LOC101929511 CEP131 LOC105376791 TEPSIN AATK PCYT2 DCXR SNORD134 TEX19 AATK-AS1 LOC105371925 FSCN2 MIR6787 PPP1R27 HEXDC NARF C17orf62 CD7 SLC38A10 MIR4740 BAHCC1 RAC3 MAFG ACTG1 NPB MYADML2 MRPL12 CCDC137 ZNF750 LOC100130370 MAFG-AS1 C17orf89 RAB40B PDE6G LOC101929552 FN3K SLC16A3
nsv470620	Chr.17:81516973 - 82064485 on Build GRCh38	Loss	LRRC45 STRA13 NOTUM OXLD1 SLC25A10 FAAP100 PCYT2 DCXR MIR6786 NPLOC4 FSCN2 P4HB PPP1R27 TSPAN10 ARHGDIA ARL16 ANAPC11 GPS1 DUS1L SIRT7 RAC3 MAFG GCGR NPB MYADML2 MRPL12 PYCR1 CCDC137 ALYREF MAFG-AS1 RFNG ASPSCR1 MCRIP1 PDE6G HGS
nsv833569	Chr.17:81838937 - 82011412 on Build GRCh38	Loss	ANAPC11 SIRT7 NOTUM MAFG NPB MYADML2 PYCR1 PCYT2 ALYREF MAFG-AS1 P4HB ASPSCR1 ARHGDIA
esv3641410	Chr.17:81987985 - 81989044 on Build GRCh38	Loss	ASPSCR1
esv21913	Chr.17:81828123 - 83103548 on Build GRCh38	Gain+Loss	STRA13 UTS2R NOTUM SECTM1 WDR45B FASN LOC105376790 TBCD P4HB OGFOD3 MIR4525 ARHGDIA ANAPC11 GPS1 DUS1L SIRT7 LOC105371944 PYCR1 CSNK1D ALYREF CCDC57 RFNG ASPSCR1 MCRIP1 LRRC45 FN3KRP FOXK2 B3GNTL1 LOC101929511 LOC105376791 PCYT2 DCXR SNORD134 TEX19 MIR6787 PPP1R27 HEXDC NARF C17orf62 CD7 RAC3 MAFG NPB MYADML2 ZNF750 MAFG-AS1 METRNL RAB40B LOC101929552 FN3K SLC16A3

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