Hs05789897_cn

• Gene Symbol: ITGB3BP
• Assay Reference Genome Location: Chr.1:63452869 on build GRCh38
• Cytoband: 1p31.3

Target Gene Details

• Entrez Gene ID: 23421
• Gene Name: integrin subunit beta 3 binding protein
• Gene Aliases: CENP-R, CENPR, HSU37139, NRIF3, TAP20
• Location: Chr.1:63440770-63523517 on Build GRCh38
• Assay Gene Location: Within Intron 9

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
ITGB3BP	NM_001206739.1			NP_001193668.1
	NM_014288.4			NP_055103.3
	NR_045147.1
	XM_006710514.3			XP_006710577.3
	XM_006710515.3			XP_006710578.3
	XM_017000853.1			XP_016856342.1
	XM_017000854.1			XP_016856343.1
	XM_017000855.1			XP_016856344.1
	AA873717.1
	AF175306.1			AAF00239.1
	AK312944.1
	BC009929.2			AAH09929.1
	BC014385.1			AAH14385.1
	U37139.1			AAC50294.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv546434	Chr.1:63449672 - 63576116 on Build GRCh38	Loss	ITGB3BP DLEU2L EFCAB7
nsv470714	Chr.1:63301926 - 63537185 on Build GRCh38	Gain	ITGB3BP FOXD3-AS1 MIR6068 EFCAB7 FOXD3 LINC00466 ALG6
nsv546433	Chr.1:63288065 - 63537185 on Build GRCh38	Gain	ITGB3BP FOXD3-AS1 MIR6068 EFCAB7 FOXD3 LINC00466 ALG6
nsv1002554	Chr.1:63354605 - 63459148 on Build GRCh38	Gain	ITGB3BP ALG6

More Information

Additional Information:

For this assay, SNP(s) [rs147182459] are located under a primer or probe sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.

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

Gene Ontology Categories:

Process(es)

transcription, DNA-templated
regulation of transcription, DNA-templated
apoptotic process
sister chromatid cohesion
mitotic nuclear division
cell adhesion
signal transduction
CENP-A containing nucleosome assembly
positive regulation of apoptotic process
cell division

Function(s)

signal transducer activity
protein binding
protein C-terminus binding