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

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