Hs04884380_cn

• Gene Symbol: TBCK
• Assay Reference Genome Location: Chr.4:106057702 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: Within Intron 30

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
	AB449876.1
	AF161420.1			AAF28980.1
	AK074305.1			BAB85045.1
	AK098157.1			BAC05244.1
	AK315571.1
	BC009208.2			AAH09208.2
	BC020853.2			AAH20853.2
	BC068496.1			AAH68496.1
	BX647851.1			CAI46102.1

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	TBCK LOC101929577
nsv1000196	Chr.4:103475625 - 106148054 on Build GRCh38	Loss	PPA2 NPNT TACR3 LOC101929468 GSTCD INTS12 TET2 LOC101929577 LOC101929529 CXXC4 TBCK TET2-AS1 ARHGEF38 ARHGEF38-IT1
nsv1014993	Chr.4:105874862 - 106059570 on Build GRCh38	Gain	NPNT TBCK LOC101929577

More Information

• Set Membership: Intragenic, Intronic, 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