Hs00347448_cn

• Gene Symbol: TBCC
• Assay Reference Genome Location: Chr.6:42745459 on build GRCh38
• Cytoband: 6p21.1

Target Gene Details

• Entrez Gene ID: 6903
• Gene Name: tubulin folding cofactor C
• Gene Aliases: CFC
• Location: Chr.6:42744496-42746146 on Build GRCh38
• Assay Gene Location: Within Exon 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
TBCC	NM_003192.2	1	688	NP_003183.1
	AK312681.1	1	630
	BC017479.1	2	1179	AAH17479.1
	BC020170.1	1	628	AAH20170.1
	BE795945.1	1	688
	BT007002.1	1	615	AAP35648.1
	U61234.1	1	638	AAB17539.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
esv3576145	Chr.6:42728097 - 43012090 on Build GRCh38	Gain	PPP2R5D CNPY3-GNMT PEX6 CNPY3 GLTSCR1L LOC401261 GNMT TBCC RPL7L1 ATP6V0CP3 PTCRA C6orf226 MEA1
nsv830650	Chr.6:42690493 - 42873400 on Build GRCh38	Loss	GLTSCR1L UBR2 LOC401261 PRPH2 TBCC ATP6V0CP3
nsv1017398	Chr.6:42659705 - 43400998 on Build GRCh38	Gain	CRIP3 SRF SLC22A7 ZNF318 MRPL2 PEX6 CNPY3 LOC401261 GNMT PRPH2 DNPH1 TBCC RPL7L1 ATP6V0CP3 TTBK1 C6orf226 CUL9 PPP2R5D KLC4 RRP36 CNPY3-GNMT GLTSCR1L UBR2 CUL7 KLHDC3 PTK7 PTCRA MEA1

More Information

• Set Membership: Intragenic, Exonic, DGV Variation

Panther Classification:

Molecular Function -

chaperone

Gene Ontology Categories:

Process(es)

cell morphogenesis
protein folding
tubulin complex assembly
post-chaperonin tubulin folding pathway

Function(s)

GTPase activity
tubulin binding
chaperone binding