Hs05952381_cn

• Gene Symbol: TBCK
• Assay Reference Genome Location: Chr.4:106044268 on build GRCh38
• Cytoband: 4q24

Target Gene Details

• Entrez Gene ID: 93627
• Gene Name: TBC1 domain containing kinase
• Gene Aliases: HSPC302, IHPRF3, TBCKL
• Location: Chr.4:106044317-106316704 on Build GRCh38
• Assay Gene Location: Overlaps - Exon 31

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
TBCK	NM_001163435.2			NP_001156907.1
	NM_001163436.2			NP_001156908.1
	NM_001163437.2			NP_001156909.1
	NM_001290768.1			NP_001277697.1
	NM_033115.4			NP_149106.2
	XM_011532417.2			XP_011530719.1
	XM_017008846.1			XP_016864335.1
	XM_017008848.1			XP_016864337.1
	XM_017008849.1			XP_016864338.1
	AI279137.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv522792	Chr.4:105974807 - 106061636 on Build GRCh38	Gain	LOC101929577 TBCK
nsv1000196	Chr.4:103475625 - 106148054 on Build GRCh38	Loss	ARHGEF38 NPNT PPA2 LOC101929577 INTS12 TBCK TET2-AS1 LOC101929468 CXXC4 ARHGEF38-IT1 TACR3 GSTCD LOC101929529 TET2
nsv1014993	Chr.4:105874862 - 106059570 on Build GRCh38	Gain	NPNT LOC101929577 TBCK

More Information

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

Panther Classification:

Molecular Function -

GTPase-activating protein

Gene Ontology Categories:

Process(es)

protein phosphorylation
intracellular protein transport
regulation of vesicle fusion
activation of GTPase activity

Function(s)

protein kinase activity
GTPase activator activity
ATP binding
Rab GTPase binding