Hs04369189_cn

• Gene Symbol: RABL6
• Assay Reference Genome Location: Chr.9:136817633 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	RABL6 CCDC183 CCDC183-AS1
nsv818738	Chr.9:136740043 - 137009585 on Build GRCh38	Gain	RABL6 LCN12 C9orf142 C9orf172 MIR4479 EDF1 CLIC3 PRR31 TRAF2 MIR4292 ABCA2 PTGDS LCNL1 FBXW5 MIR6722 MAMDC4 LCN10 CCDC183 TMEM141 PHPT1 LCN15 LOC100128593 LCN6 LCN8 CCDC183-AS1 C8G
esv29973	Chr.9:136795692 - 136859658 on Build GRCh38	Loss	RABL6 MAMDC4 MIR4292 C9orf172 CCDC183 PHPT1 CCDC183-AS1
nsv469918	Chr.9:136359865 - 137173890 on Build GRCh38	Loss	UAP1L1 ENTPD2 C9orf142 SDCCAG3 CLIC3 AGPAT2 INPP5E TRAF2 LINC01451 MIR4292 NALT1 GRIN1 MAN1B1-AS1 MAMDC4 LCN10 MIR126 CCDC183 PMPCA LCN15 FUT7 DNLZ FAM69B LCN6 NOTCH1 EGFL7 DPP7 MAN1B1 SEC16A MIR3621 TMEM210 RABL6 LCN12 CARD9 LRRC26 C9orf172 MIR4479 EDF1 MIR4673 PRR31 ABCA2 PTGDS LCNL1 SAPCD2 C9orf139 NPDC1 FBXW5 SNAPC4 C9orf163 MIR6722 SNHG7 SNORA17B TMEM141 PHPT1 LOC101930307 MIR4674 LOC100128593 HSPC324 SNORA17A LCN8 CCDC183-AS1 C8G
esv2759720	Chr.9:136356377 - 136932033 on Build GRCh38	Loss	RABL6 CARD9 C9orf172 MIR4479 EDF1 SDCCAG3 MIR4673 AGPAT2 INPP5E TRAF2 LINC01451 GPSM1 MIR4292 NALT1 SNAPC4 C9orf163 MIR6722 SNHG7 MAMDC4 LCN10 MIR126 SNORA17B CCDC183 PMPCA TMEM141 PHPT1 LCN15 MIR4674 DNLZ FAM69B LOC100128593 HSPC324 LCN6 NOTCH1 EGFL7 SNORA17A LCN8 CCDC183-AS1 SEC16A
esv2422220	Chr.9:136584135 - 137350098 on Build GRCh38	Deletion	UAP1L1 ENTPD2 C9orf142 CYSRT1 CLIC3 AGPAT2 NELFB TPRN TRAF2 LINC01451 STPG3 FAM166A MIR4292 GRIN1 MAN1B1-AS1 MAMDC4 LCN10 RNF224 MIR126 CCDC183 LCN15 EXD3 FUT7 FAM69B LCN6 EGFL7 SLC34A3 DPP7 MAN1B1 NDOR1 MIR3621 TMEM210 RABL6 LCN12 SSNA1 LRRC26 C9orf172 MIR4479 ANAPC2 EDF1 PRR31 TMEM203 ABCA2 PTGDS TOR4A LCNL1 NRARP SAPCD2 C9orf139 NPDC1 FBXW5 C9orf173-AS1 MIR6722 SNHG7 TUBB4B SNORA17B TMEM141 PHPT1 LOC101930307 LOC100128593 HSPC324 RNF208 SNORA17A LCN8 CCDC183-AS1 C8G

More Information

Additional Information:

For this assay, SNP(s) [rs117587794] 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