Hs01382982_cn

• Gene Symbol: TBCK
• Assay Reference Genome Location: Chr.4:106095545 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 Exon 29

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
TBCK	NM_001163435.2	25	2873	NP_001156907.1
	NM_001163436.2	25	2694	NP_001156908.1
	NM_001163437.2	25	2756	NP_001156909.1
	NM_001290768.1	26	2974	NP_001277697.1
	NM_033115.4	23	2684	NP_149106.2
	XM_011532417.2	25	2793	XP_011530719.1
	XM_017008846.1	25	2877	XP_016864335.1
	XM_017008847.1	24	2537	XP_016864336.1
	XM_017008848.1	25	2549	XP_016864337.1
	XM_017008849.1	23	2360	XP_016864338.1
	AB449876.1	24	2508
	AF161420.1	13	1350	AAF28980.1
	AK074305.1	25	2628	BAB85045.1
	AK098157.1	16	2161	BAC05244.1
	AK315571.1	25	2816
	BC009208.2	23	2646	AAH09208.2
	BC020853.2	6	689	AAH20853.2
	BC068496.1	25	2697	AAH68496.1
	BX647851.1	27	2918	CAI46102.1

Target Copy Number Variation Details

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

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

More Information

• Set Membership: Intragenic, 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