Hs01046696_cn

• Gene Symbol: ARFRP1
• Assay Reference Genome Location: Chr.20:63700290 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	978	NP_001128230.1
	NM_001267544.2	7	981	NP_001254473.1
	NM_001267545.2	6	907	NP_001254474.1
	NM_001267546.2	7	813	NP_001254475.1
	NM_001267547.2	8	912	NP_001254476.1
	NM_001267548.2	8	809	NP_001254477.1
	NM_001267549.2	7	983	NP_001254478.1
	NM_003224.5	8	907	NP_003215.1
	NR_051954.2	8	905
	NR_051955.2	8	910
	NR_051956.2	8	907
	NR_051957.2	8	902
	NR_051958.2	7	836
	XM_011528482.2	8	844	XP_011526784.1
	XM_011528483.1	8	974	XP_011526785.1
	XM_017027576.1	8	788	XP_016883065.1
	AK095962.1	7	1326
	AL522492.3	6	835
	AL533893.3
	AL833084.2	3	4401
	BC092480.1	8	793	AAH92480.1
	BU526941.1
	BX342690.2	8	786
	BX342805.2	7	815
	BX463457.2	8	809
	CA489361.1	5	751
	X91504.1	7	770	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	RTEL1-TNFRSF6B ARFRP1 RTEL1 TNFRSF6B
nsv953308	Chr.20:63650148 - 63831847 on Build GRCh38	Deletion	ZGPAT LIME1 SLC2A4RG STMN3 RTEL1-TNFRSF6B ZBTB46 ARFRP1 ZBTB46-AS1 RTEL1 TNFRSF6B
nsv1160690	Chr.20:63639552 - 63744287 on Build GRCh38	Deletion	ZGPAT LIME1 SLC2A4RG STMN3 RTEL1-TNFRSF6B ZBTB46 ARFRP1 RTEL1 TNFRSF6B
nsv428381	Chr.20:63583375 - 64334167 on Build GRCh38	Gain+Loss	MIR1914 PCMTD2 LOC100505771 LIME1 SLC2A4RG MIR941-2 UCKL1 MIR941-5 ZBTB46-AS1 ZNF512B MIR6813 TNFRSF6B MIR647 LINC00266-1 OPRL1 TCEA2 RTEL1-TNFRSF6B ARFRP1 LINC00176 GMEB2 LKAAEAR1 RTEL1 RGS19 DNAJC5 NPBWR2 ZGPAT ABHD16B STMN3 PRPF6 MIR941-3 MIR941-1 SOX18 MIR941-4 UCKL1-AS1 MYT1 SAMD10 ZBTB46 C20orf181 TPD52L2
nsv586611	Chr.20:63680946 - 63709340 on Build GRCh38	Loss	ZGPAT RTEL1-TNFRSF6B ARFRP1 RTEL1 TNFRSF6B
nsv470563	Chr.20:63486715 - 63793308 on Build GRCh38	Loss	ZGPAT LOC100505771 LIME1 SLC2A4RG STMN3 PTK6 PPDPF TNFRSF6B HELZ2 FNDC11 EEF1A2 RTEL1-TNFRSF6B ZBTB46 SRMS ARFRP1 GMEB2 RTEL1
esv2758806	Chr.20:63470996 - 63745014 on Build GRCh38	Gain+Loss	ZGPAT LOC100505771 LIME1 SLC2A4RG STMN3 PTK6 PPDPF TNFRSF6B HELZ2 FNDC11 EEF1A2 RTEL1-TNFRSF6B ZBTB46 SRMS ARFRP1 KCNQ2 GMEB2 RTEL1

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