Hs03715445_cn

• Gene Symbol: RABL6
• Assay Reference Genome Location: Chr.9:136813096 on build GRCh38
• Cytoband: 9q34.3

Target Gene Details

• Entrez Gene ID: 55684
• Gene Name: RAB, member RAS oncogene family-like 6
• Gene Aliases: C9orf86, PARF, RBEL1, pp8875
• Location: Chr.9:136807922-136841187 on Build GRCh38
• Assay Gene Location: Within Intron 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
RABL6	NM_001173988.1			NP_001167459.1
	NM_001173989.2			NP_001167460.1
	NM_024718.4			NP_078994.3
	AK307431.1
	BC002945.2			AAH02945.2
	BC021095.1			AAH21095.2
	BC035786.1			AAH35786.1
	CR989427.1
	CX784448.1
	DQ141240.1			AAZ73768.1
	EF156752.1
	EF156753.1
	GQ169126.1
	GQ169127.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
esv2739396	Chr.9:136809577 - 136818862 on Build GRCh38	Deletion	RABL6
dgv1246n67	Chr.9:136806360 - 136823613 on Build GRCh38	Gain	CCDC183 RABL6 CCDC183-AS1
nsv818738	Chr.9:136740043 - 137009585 on Build GRCh38	Gain	LCN15 MIR4479 C9orf172 CLIC3 CCDC183 CCDC183-AS1 PHPT1 TMEM141 FBXW5 LOC100128593 C8G LCN12 MIR4292 LCN10 PRR31 PTGDS ABCA2 LCN6 EDF1 RABL6 TRAF2 LCNL1 C9orf142 MIR6722 LCN8 MAMDC4
esv29973	Chr.9:136795692 - 136859658 on Build GRCh38	Loss	MIR4292 C9orf172 CCDC183 RABL6 CCDC183-AS1 MAMDC4 PHPT1
nsv469918	Chr.9:136359865 - 137173890 on Build GRCh38	Loss	DNLZ LCN15 MIR4479 LOC101930307 SDCCAG3 CLIC3 CCDC183-AS1 C9orf163 MIR3621 EGFL7 NOTCH1 FBXW5 ENTPD2 SNHG7 NPDC1 C8G PMPCA LCN12 SNORA17B PTGDS ABCA2 LCN6 EDF1 DPP7 RABL6 MAN1B1 TRAF2 MIR4673 C9orf139 TMEM210 MAN1B1-AS1 MIR4674 HSPC324 MIR126 C9orf172 FUT7 CCDC183 SNAPC4 PHPT1 SEC16A TMEM141 SAPCD2 LOC100128593 MIR4292 LRRC26 LCN10 PRR31 NALT1 CARD9 UAP1L1 SNORA17A LINC01451 LCNL1 C9orf142 GRIN1 FAM69B MIR6722 AGPAT2 LCN8 INPP5E MAMDC4
esv2759720	Chr.9:136356377 - 136932033 on Build GRCh38	Loss	DNLZ LCN15 HSPC324 MIR4479 MIR126 C9orf172 SDCCAG3 CCDC183 SNAPC4 CCDC183-AS1 C9orf163 PHPT1 GPSM1 EGFL7 SEC16A NOTCH1 TMEM141 LOC100128593 SNHG7 PMPCA MIR4292 LCN10 SNORA17B NALT1 LCN6 EDF1 CARD9 RABL6 TRAF2 MIR4673 SNORA17A LINC01451 FAM69B MIR6722 AGPAT2 LCN8 INPP5E MAMDC4 MIR4674
esv3622016	Chr.9:136812973 - 136816971 on Build GRCh38	Loss	RABL6
nsv416072	Chr.9:136811674 - 136816745 on Build GRCh38	Deletion	RABL6
esv2422220	Chr.9:136584135 - 137350098 on Build GRCh38	Deletion	LCN15 MIR4479 LOC101930307 CLIC3 TPRN CCDC183-AS1 MIR3621 EGFL7 CYSRT1 TUBB4B TMEM203 FBXW5 ENTPD2 SNHG7 NPDC1 C8G LCN12 SNORA17B PTGDS ABCA2 LCN6 EDF1 DPP7 RABL6 MAN1B1 TRAF2 C9orf139 ANAPC2 TMEM210 C9orf173-AS1 EXD3 MAN1B1-AS1 NELFB SSNA1 HSPC324 MIR126 C9orf172 FUT7 CCDC183 PHPT1 SLC34A3 STPG3 RNF208 NDOR1 NRARP TMEM141 SAPCD2 LOC100128593 RNF224 MIR4292 LRRC26 LCN10 PRR31 TOR4A UAP1L1 SNORA17A LINC01451 FAM166A LCNL1 C9orf142 GRIN1 FAM69B MIR6722 AGPAT2 LCN8 MAMDC4

More Information

Additional Information:

For this assay, SNP(s) [rs79271843] are located under a primer or probe sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.

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

Panther Classification:

Molecular Function -

small GTPase

Gene Ontology Categories:

Process(es)

small GTPase mediated signal transduction

Function(s)

protein binding
GTP binding