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

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