Hs05125617_cn

• Gene Symbol: ENKUR
• Assay Reference Genome Location: Chr.10:24988896 on build GRCh38
• Cytoband: 10p12.1

Target Gene Details

• Entrez Gene ID: 219670
• Gene Name: enkurin, TRPC channel interacting protein
• Gene Aliases: C10orf63, CFAP106
• Location: Chr.10:24981979-25062279 on Build GRCh38
• Assay Gene Location: Within Intron 6

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
ENKUR	NM_001270383.1			NP_001257312.1
	NM_145010.3			NP_659447.1
	NR_072992.1
	NR_072993.1
	XM_006717389.1			XP_006717452.1
	XM_006717390.1			XP_006717453.1
	XM_011519348.1			XP_011517650.1
	XM_017015830.1			XP_016871319.1
	AK095021.1			BAC04477.1
	AK292495.1
	AY454125.1			AAS45168.1
	BC026165.2			AAH26165.1
	CR936720.1
	DA285403.1

Target Gene Details

• Entrez Gene ID: 79896
• Gene Name: threonine synthase like 1
• Gene Aliases: TSH1
• Location: Chr.10:24952319-25026664 on Build GRCh38
• Assay Gene Location: Within Intron 2

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
THNSL1	XM_017016665.1			XP_016872154.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
esv1965232	Chr.10:24988494 - 24988917 on Build GRCh38	Deletion	THNSL1 ENKUR
esv2734151	Chr.10:24988534 - 24988896 on Build GRCh38	Deletion	THNSL1 ENKUR

More Information

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

Gene Ontology Categories:

Process(es)

biological_process
threonine biosynthetic process

Function(s)

calmodulin binding
SH3 domain binding
molecular_function
threonine synthase activity
pyridoxal phosphate binding