Hs04402025_cn

• Gene Symbol: BTBD18
• Assay Reference Genome Location: Chr.11:57749162 on build GRCh38
• Cytoband: 11q12.1

Target Gene Details

• Entrez Gene ID: 643376
• Gene Name: BTB domain containing 18
• Gene Aliases: -
• Location: Chr.11:57743514-57753176 on Build GRCh38
• Assay Gene Location: Within Intron 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
BTBD18	NM_001145101.1			NP_001138573.1
	XM_011545212.2			XP_011543514.1
	XM_017018127.1			XP_016873616.1
	XM_017018128.1			XP_016873617.1
	BC157853.1
	BC157854.1
	DC346943.1

Target Gene Details

• Entrez Gene ID: 100528016
• Gene Name: TMX2-CTNND1 readthrough (NMD candidate)
• Gene Aliases: -
• Location: Chr.11:57712523-57819180 on Build GRCh38
• Assay Gene Location: Within Intron 2

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
TMX2-CTNND1	NR_037646.1
	AB002382.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv508633	Chr.11:57652112 - 57792573 on Build GRCh38	Deletion	BTBD18 ZDHHC5 MED19 C11orf31 CLP1 CTNND1 TMX2-CTNND1 TMX2
nsv832164	Chr.11:57640144 - 57811353 on Build GRCh38	Loss	BTBD18 ZDHHC5 MED19 YPEL4 C11orf31 CLP1 CTNND1 TMX2-CTNND1 MIR130A TMX2

More Information

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

Gene Ontology Categories:

Process(es)

protein ubiquitination

Function(s)

ubiquitin-protein transferase activity