Hs05131319_cn

• Gene Symbol: RAB18
• Assay Reference Genome Location: Chr.10:27505041 on build GRCh38
• Cytoband: 10p12.1

Target Gene Details

• Entrez Gene ID: 22931
• Gene Name: RAB18, member RAS oncogene family
• Gene Aliases: RAB18LI1, WARBM3
• Location: Chr.10:27504174-27542237 on Build GRCh38
• Assay Gene Location: Within Intron 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
RAB18	NM_001256410.1			NP_001243339.1
	NM_001256411.1			NP_001243340.1
	NM_001256412.1			NP_001243341.1
	NM_001256415.1			NP_001243344.1
	NM_021252.4			NP_067075.1
	NR_046172.1
	AF087860.1			AAP97170.1
	AF136974.1			AAG49435.1
	AF137372.1			AAF61433.1
	AF498950.1			AAM21098.1
	AK001555.1
	AK223153.1			BAD96873.1
	AK295443.1
	AK297629.1
	AK299457.1
	AL136734.1			CAB66668.1
	AY574034.1			AAU08232.1
	BC015014.2			AAH15014.1
	BC029350.1			AAH29350.1
	BP210053.1
	BT009840.1			AAP88842.1
	CN357871.1
	CR533455.1			CAG38486.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv1045257	Chr.10:27283511 - 27638017 on Build GRCh38	Gain	PTCHD3 LOC101929180 ARMC4P1 RAB18
esv2734617	Chr.10:27505071 - 27506955 on Build GRCh38	Deletion	RAB18
esv3622726	Chr.10:27505039 - 27506955 on Build GRCh38	Loss	RAB18
esv2671913	Chr.10:27505061 - 27506968 on Build GRCh38	Deletion	RAB18
esv3622724	Chr.10:27412809 - 27505337 on Build GRCh38	Gain	PTCHD3 RAB18
nsv550241	Chr.10:27280592 - 27736842 on Build GRCh38	Gain	PTCHD3 LOC101929180 ARMC4P1 RAB18 MKX
esv3622708	Chr.10:27138085 - 27696800 on Build GRCh38	Gain	PTCHD3 LRRC37A6P MASTL ACBD5 LOC101929180 ARMC4P1 YME1L1 RAB18 MKX
nsv8614	Chr.10:27215558 - 27539477 on Build GRCh38	Loss	PTCHD3 LRRC37A6P ACBD5 LOC101929180 ARMC4P1 RAB18
esv2734606	Chr.10:27447765 - 29432048 on Build GRCh38	Deletion	MIR8086 SVIL-AS1 WAC-AS1 LYZL1 MKX-AS1 WAC MPP7 LINC01517 ARMC4 MKX LINC00837 BAMBI LOC105376468 SNORD130 C10orf126 RAB18
nsv825319	Chr.10:27503878 - 27506947 on Build GRCh38	Loss	RAB18

More Information

• Set Membership: Intragenic, Intronic, Non-exonic, DGV Variation

Gene Ontology Categories:

Process(es)

eye development
small GTPase mediated signal transduction
brain development
protein transport
lipid particle organization
endoplasmic reticulum tubular network organization

Function(s)

GTPase activity
protein binding
GTP binding
GDP binding