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

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