Hs05119895_cn

• Gene Symbol: ABI1
• Assay Reference Genome Location: Chr.10:26750607 on build GRCh38
• Cytoband: 10p12.1

Target Gene Details

• Entrez Gene ID: 10006
• Gene Name: abl interactor 1
• Gene Aliases: ABI-1, ABLBP4, E3B1, NAP1BP, SSH3BP, SSH3BP1
• Location: Chr.10:26746596-26861087 on Build GRCh38
• Assay Gene Location: Within Intron 14

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
ABI1	NM_001012750.2			NP_001012768.1
	NM_001012751.2			NP_001012769.1
	NM_001012752.2			NP_001012770.1
	NM_001178116.1			NP_001171587.1
	NM_001178119.1			NP_001171590.1
	NM_001178120.1			NP_001171591.1
	NM_001178121.1			NP_001171592.1
	NM_001178122.1			NP_001171593.1
	NM_001178123.1			NP_001171594.1
	NM_001178124.1			NP_001171595.1
	NM_001178125.1			NP_001171596.1
	NM_005470.3			NP_005461.2
	XM_005252332.3			XP_005252389.1
	XM_005252333.3			XP_005252390.1
	XM_006717359.2			XP_006717422.1
	XM_006717360.2			XP_006717423.1
	XM_006717361.2			XP_006717424.1
	XM_017015458.1			XP_016870947.1
	AB040151.1			BAB55675.1
	AB209268.1			BAD92505.1
	AF001628.1			AAD00897.1
	AF006516.1			AAB62569.1
	AF260262.1			AAF70309.1
	AF540955.1			AAN28379.1
	AK126803.1
	AK291823.1
	AK296751.1
	AK298646.1
	AK315914.1
	BC024254.2			AAH24254.1
	FJ380057.1
	FJ380058.1
	FJ380059.1
	U87166.1			AAC39757.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
esv3415799	Chr.10:26640952 - 26944612 on Build GRCh38	Duplication	LINC00202-1 PDSS1 ABI1 ANKRD26 LINC00202-2

More Information

Additional Information:

For this assay, SNP(s) [rs149158685] 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

Panther Classification:

Molecular Function -

scaffold/adaptor protein

Gene Ontology Categories:

Process(es)

somitogenesis
movement of cell or subcellular component
transmembrane receptor protein tyrosine kinase signaling pathway
actin polymerization or depolymerization
negative regulation of cell proliferation
viral process
peptidyl-tyrosine phosphorylation
megakaryocyte development
Fc-gamma receptor signaling pathway involved in phagocytosis
vascular endothelial growth factor receptor signaling pathway
positive regulation of protein tyrosine kinase activity
lamellipodium morphogenesis
cell-cell adhesion

Function(s)

protein binding
cytoskeletal protein binding
protein tyrosine kinase activator activity
protein complex binding
cadherin binding involved in cell-cell adhesion