Hs06817341_cn

• Gene Symbol: TTBK1
• Assay Reference Genome Location: Chr.6:43251300 on build GRCh38
• Cytoband: 6p21.1

Target Gene Details

• Entrez Gene ID: 84630
• Gene Name: tau tubulin kinase 1
• Gene Aliases: BDTK
• Location: Chr.6:43243484-43288259 on Build GRCh38
• Assay Gene Location: Within Intron 2

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
TTBK1	NM_032538.1			NP_115927.1
	XM_011514947.2			XP_011513249.1
	XM_017011364.1			XP_016866853.1
	XM_017011365.1			XP_016866854.1
	XM_017011366.1			XP_016866855.1
	XM_017011367.1			XP_016866856.1
	AB218664.1			BAE78660.1
	AK131217.1			BAD18405.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv602997	Chr.6:43221202 - 43291349 on Build GRCh38	Loss	TTBK1 DNPH1 CUL9
nsv602998	Chr.6:43245739 - 43308652 on Build GRCh38	Loss	TTBK1 SLC22A7 CRIP3
nsv1017398	Chr.6:42659705 - 43400998 on Build GRCh38	Gain	RPL7L1 UBR2 ZNF318 PTCRA PEX6 KLC4 CNPY3 MRPL2 SLC22A7 DNPH1 KLHDC3 PTK7 ATP6V0CP3 CUL9 SRF LOC401261 TBCC PPP2R5D CUL7 CNPY3-GNMT GLTSCR1L TTBK1 MEA1 C6orf226 CRIP3 GNMT RRP36 PRPH2

More Information

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

Panther Classification:

Molecular Function -

non-receptor serine/threonine protein kinase

Gene Ontology Categories:

Process(es)

regulation of cell shape
peptidyl-serine phosphorylation
substantia nigra development

Function(s)

protein serine/threonine kinase activity
ATP binding