Hs02046142_cn

• Gene Symbol: CABP1
• Assay Reference Genome Location: Chr.12:120660219 on build GRCh38
• Cytoband: 12q24.31

Target Gene Details

• Entrez Gene ID: 9478
• Gene Name: calcium binding protein 1
• Gene Aliases: CALBRAIN, HCALB_BR
• Location: Chr.12:120640552-120680869 on Build GRCh38
• Assay Gene Location: Overlaps Intron 4 - Exon 5

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
CABP1	NM_001033677.1			NP_001028849.1
	NM_004276.4			NP_004267.2
	NM_031205.3			NP_112482.1
	XM_017020235.1			XP_016875724.1
	XM_017020236.1			XP_016875725.1
	XM_017020237.1			XP_016875726.1
	XM_017020238.1			XP_016875727.1
	XM_017020239.1			XP_016875728.1
	AF169148.1			AAF25782.1
	AF169149.1			AAF25783.1
	AK127203.1	1	1244
	AL533429.3
	BC030201.1
	BM716422.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv1045923	Chr.12:120644400 - 120708416 on Build GRCh38	Gain	MLEC CABP1
nsv521928	Chr.12:120603925 - 121356945 on Build GRCh38	Gain	MLEC CABP1 MIR4700 C12orf43 XLOC_009911 CAMKK2 UNC119B HNF1A ANAPC5 SPPL3 P2RX7 P2RX4 HNF1A-AS1 OASL ACADS

More Information

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

Gene Ontology Categories:

Process(es)

negative regulation of protein import into nucleus
negative regulation of catalytic activity

Function(s)

enzyme inhibitor activity
calcium ion binding
protein binding
nuclear localization sequence binding
calcium-dependent protein binding