Hs01360950_cn

• Gene Symbol: BTBD11
• Assay Reference Genome Location: Chr.12:107319646 on build GRCh38
• Cytoband: 12q23.3

Target Gene Details

• Entrez Gene ID: 121551
• Gene Name: BTB domain containing 11
• Gene Aliases: ABTB2B
• Location: Chr.12:107317168-107659642 on Build GRCh38
• Assay Gene Location: Within Exon 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
BTBD11	NM_001018072.1	1	1227	NP_001018082.1
	XM_017018807.1	1	2479	XP_016874296.1
	BC146824.1	1	1226

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv1038935	Chr.12:107314243 - 108077556 on Build GRCh38	Gain	PRDM4 ASCL4 LOC101929162 BTBD11 LOC728739 PWP1
nsv872	Chr.12:107295161 - 107328566 on Build GRCh38	Insertion	BTBD11

More Information

• Set Membership: Intragenic, Exonic, DGV Variation

Panther Classification:

Molecular Function -

scaffold/adaptor protein

Gene Ontology Categories:

Process(es)

regulation of proteolysis
protein ubiquitination involved in ubiquitin-dependent protein catabolic process
proteasome-mediated ubiquitin-dependent protein catabolic process
SMAD protein signal transduction

Function(s)

ubiquitin protein ligase binding
protein heterodimerization activity