Hs03984245_cn

• Gene Symbol: TBC1D16
• Assay Reference Genome Location: Chr.17:79936721 on build GRCh38
• Cytoband: 17q25.3

Target Gene Details

• Entrez Gene ID: 125058
• Gene Name: TBC1 domain family member 16
• Gene Aliases: -
• Location: Chr.17:79932343-80035875 on Build GRCh38
• Assay Gene Location: Within Exon 18

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
TBC1D16	NM_001271844.1	8	5413	NP_001258773.1
	NM_001271845.1	8	5452	NP_001258774.1
	NM_019020.3	12	6568	NP_061893.2
	XM_005257049.2	12	6579	XP_005257106.1
	XM_005257050.3	12	6582	XP_005257107.1
	XM_006721694.3	13	6421	XP_006721757.1
	XM_011524322.2	12	6543	XP_011522624.1
	XM_011524323.2	10	6493	XP_011522625.2
	XM_011524324.2	8	6037	XP_011522626.1
	XM_017024186.1	10	6320	XP_016879675.1
	XM_017024187.1	11	6560	XP_016879676.1
	XM_017024188.1	10	5700	XP_016879677.1
	AK000755.1	1	1340	BAA91361.1
	AL157485.1	1	2123
	AL512709.1	1	1812
	CR936670.1	8	5418

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv576128	Chr.17:79936326 - 79938459 on Build GRCh38	Gain	TBC1D16
nsv469865	Chr.17:79770348 - 79957778 on Build GRCh38	Loss	CBX8 LOC101928766 LOC101928738 CBX4 TBC1D16 CBX2

More Information

• Set Membership: Intragenic, Exonic, DGV Variation

Panther Classification:

Molecular Function -

GTPase-activating protein

Gene Ontology Categories:

Process(es)

regulation of receptor recycling
intracellular protein transport
regulation of vesicle fusion
activation of GTPase activity
regulation of cilium assembly

Function(s)

GTPase activator activity
protein binding
Rab GTPase binding