Hs00535945_cn

• Gene Symbol: ARFRP1
• Assay Reference Genome Location: Chr.20:63700488 on build GRCh38
• Cytoband: 20q13.33

Target Gene Details

• Entrez Gene ID: 10139
• Gene Name: ADP ribosylation factor related protein 1
• Gene Aliases: ARL18, ARP, Arp1
• Location: Chr.20:63698642-63708013 on Build GRCh38
• Assay Gene Location: Within Exon 7

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
ARFRP1	NM_001134758.3	7	780	NP_001128230.1
	NM_001267544.2	7	783	NP_001254473.1
	NM_001267545.2	6	709	NP_001254474.1
	NM_001267546.2	7	615	NP_001254475.1
	NM_001267547.2	8	714	NP_001254476.1
	NM_001267548.2	8	611	NP_001254477.1
	NM_001267549.2	7	785	NP_001254478.1
	NM_003224.5	8	709	NP_003215.1
	NR_051954.2	8	707
	NR_051955.2	8	712
	NR_051956.2	8	709
	NR_051957.2	8	704
	NR_051958.2	7	638
	XM_011528482.2	8	646	XP_011526784.1
	XM_011528483.1	8	776	XP_011526785.1
	XM_017027576.1	8	590	XP_016883065.1
	AK095962.1	7	1128
	AL522492.3	6	637
	AL533893.3	8	699
	AL833084.2	3	4203
	BC092480.1	8	595	AAH92480.1
	BC093967.1	8	612	AAH93967.1
	BC143447.1	7	683
	BC143448.1	7	688
	BC143467.1	8	617
	BI524032.1	8	707
	BI819763.1	8	581
	BT019624.1			AAV38430.1
	BT019663.1			AAV38469.1
	BU526941.1	8	646
	BX342690.2	8	588
	BX342805.2	7	617
	BX463457.2	8	611
	CA489361.1	5	553
	CR456752.1			CAG33033.1
	X91504.1	7	572	CAA62804.1

Target Copy Number Variation Details

• DGV Version: Release date: 2016-05-15, GRCh GRCh38

Target Variation	Location	CNV Subtype	Genes
dgv7676n54	Chr.20:63686867 - 63702868 on Build GRCh38	Loss	TNFRSF6B RTEL1-TNFRSF6B RTEL1 ARFRP1
nsv953308	Chr.20:63650148 - 63831847 on Build GRCh38	Deletion	TNFRSF6B SLC2A4RG ZGPAT ZBTB46 ZBTB46-AS1 RTEL1-TNFRSF6B LIME1 RTEL1 STMN3 ARFRP1
nsv1160690	Chr.20:63639552 - 63744287 on Build GRCh38	Deletion	TNFRSF6B SLC2A4RG ZGPAT ZBTB46 RTEL1-TNFRSF6B LIME1 RTEL1 STMN3 ARFRP1
nsv428381	Chr.20:63583375 - 64334167 on Build GRCh38	Gain+Loss	UCKL1-AS1 LINC00266-1 SLC2A4RG MIR941-4 PRPF6 DNAJC5 MYT1 MIR941-1 LINC00176 LOC100505771 UCKL1 C20orf181 RTEL1 MIR941-5 MIR6813 OPRL1 RTEL1-TNFRSF6B LIME1 RGS19 MIR941-3 ZNF512B SOX18 TNFRSF6B MIR647 SAMD10 MIR941-2 ZBTB46 TCEA2 ZBTB46-AS1 TPD52L2 MIR1914 ZGPAT GMEB2 ABHD16B PCMTD2 NPBWR2 LKAAEAR1 STMN3 ARFRP1
nsv586611	Chr.20:63680946 - 63709340 on Build GRCh38	Loss	TNFRSF6B ZGPAT RTEL1-TNFRSF6B RTEL1 ARFRP1
nsv470563	Chr.20:63486715 - 63793308 on Build GRCh38	Loss	EEF1A2 TNFRSF6B HELZ2 SLC2A4RG SRMS ZBTB46 LOC100505771 FNDC11 RTEL1 PPDPF ZGPAT GMEB2 RTEL1-TNFRSF6B LIME1 PTK6 STMN3 ARFRP1
esv2758806	Chr.20:63470996 - 63745014 on Build GRCh38	Gain+Loss	EEF1A2 TNFRSF6B HELZ2 SLC2A4RG KCNQ2 SRMS ZBTB46 LOC100505771 FNDC11 RTEL1 PPDPF ZGPAT GMEB2 RTEL1-TNFRSF6B LIME1 PTK6 STMN3 ARFRP1

More Information

• Set Membership: Intragenic, Exonic, DGV Variation

Gene Ontology Categories:

Process(es)

signal transduction
small GTPase mediated signal transduction
gastrulation
protein localization to Golgi apparatus
retrograde transport, endosome to Golgi
Golgi to plasma membrane protein transport

Function(s)

GTPase activity
protein binding
GTP binding