Hs02349150_cn

• Gene Symbol: RAB36
• Assay Reference Genome Location: Chr.22:23152483 on build GRCh38
• Cytoband: 22q11.23

Target Gene Details

• Entrez Gene ID: 9609
• Gene Name: RAB36, member RAS oncogene family
• Gene Aliases: -
• Location: Chr.22:23145298-23169285 on Build GRCh38
• Assay Gene Location: Overlaps Intron 5 - Exon 6

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
RAB36	NM_004914.3			NP_004905.2
	XM_005261859.4			XP_005261916.1
	XM_006724381.3			XP_006724444.1
	XM_006724382.3			XP_006724445.1
	XM_011530544.2			XP_011528846.1
	XM_011530545.2			XP_011528847.1
	XM_011530546.2			XP_011528848.1
	XM_011530547.2			XP_011528849.1
	XM_011530550.2			XP_011528852.1
	XM_017029104.1			XP_016884593.1
	XM_017029105.1			XP_016884594.1
	XM_017029106.1			XP_016884595.1
	XM_017029107.1			XP_016884596.1
	AB023061.1			BAA75195.1
	AF133588.1			AAF02485.1
	AK296052.1
	AY336745.1			AAQ16115.1
	BC104989.1			AAI04990.1
	BC104991.1			AAI04992.1
	CR456553.1			CAG30439.1

Target Gene Details

• Entrez Gene ID: 27156
• Gene Name: radial spoke head 14 homolog
• Gene Aliases: RTDR1
• Location: Chr.22:23059408-23180048 on Build GRCh38
• Assay Gene Location: Within Intron 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
RSPH14	XM_017028774.1			XP_016884263.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv1061433	Chr.22:22655329 - 23306920 on Build GRCh38	Gain+Loss	MIR5571 RSPH14 IGLC1 IGLJ3 IGLV2-5 MIR650 FBXW4P1 IGLV3-25 IGLV4-3 IGLV3-19 GNAZ IGLL5 IGLV3-21 BCR RAB36
esv34158	Chr.22:22874582 - 23157326 on Build GRCh38	Loss	MIR5571 RSPH14 IGLC1 GNAZ IGLJ3 IGLL5 RAB36
esv3893457	Chr.22:22657560 - 23995877 on Build GRCh38	Gain	GSTT2B SLC2A11 IGLC1 IGLV2-5 IGLL1 MIR650 PCAT14 ZDHHC8P1 MIF-AS1 IGLV3-19 GUSBP11 MIF IGLV3-21 RAB36 GSTT2 LOC107985555 DDTL MIR5571 RSPH14 VPREB3 ZNF70 LOC101929374 LOC388882 IGLJ3 RGL4 SMARCB1 CHCHD10 MMP11 FBXW4P1 LOC107985559 IGLV3-25 DDT LOC100652871 DERL3 IGLV4-3 GNAZ C22orf15 IGLL5 CES5AP1 BCR DRICH1
esv3647392	Chr.22:23097961 - 23315033 on Build GRCh38	Gain	RSPH14 FBXW4P1 GNAZ BCR RAB36
nsv1066891	Chr.22:22611045 - 24001082 on Build GRCh38	Gain	GSTT2B SLC2A11 IGLC1 IGLV2-5 IGLL1 MIR650 PCAT14 ZDHHC8P1 MIF-AS1 IGLV3-19 GUSBP11 MIF IGLV3-21 RAB36 GSTT2 LOC107985555 DDTL MIR5571 RSPH14 VPREB3 ZNF70 LOC101929374 LOC388882 IGLJ3 GSTTP1 RGL4 SMARCB1 CHCHD10 MMP11 GGTLC2 FBXW4P1 LOC107985559 IGLV3-25 POM121L1P DDT LOC100652871 DERL3 IGLV4-3 GNAZ C22orf15 IGLL5 CES5AP1 BCR DRICH1
nsv521695	Chr.22:22655867 - 23305822 on Build GRCh38	Loss	MIR5571 RSPH14 IGLC1 IGLJ3 IGLV2-5 MIR650 FBXW4P1 IGLV3-25 IGLV4-3 IGLV3-19 GNAZ IGLL5 IGLV3-21 BCR RAB36

More Information

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

Gene Ontology Categories:

Process(es)

small GTPase mediated signal transduction
protein transport
biological_process

Function(s)

GTP binding
molecular_function
protein binding