Hs01978467_cn

• Gene Symbol: CABP1
• Assay Reference Genome Location: Chr.12:120661164 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: Within Exon 7

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
CABP1	NM_001033677.1	5	1100	NP_001028849.1
	NM_004276.4	5	555	NP_004267.2
	NM_031205.3	6	735	NP_112482.1
	XM_017020235.1	5	1167	XP_016875724.1
	XM_017020236.1	5	1302	XP_016875725.1
	XM_017020237.1	5	1302	XP_016875726.1
	XM_017020238.1	6	2381	XP_016875727.1
	XM_017020239.1	5	2195	XP_016875728.1
	AF169148.1	5	494	AAF25782.1
	AF169149.1	6	674	AAF25783.1
	AK127203.1	2	1799
	BC030201.1	5	1100
	BQ188859.1

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	UNC119B C12orf43 P2RX7 ACADS CAMKK2 OASL HNF1A CABP1 MIR4700 MLEC P2RX4 XLOC_009911 ANAPC5 HNF1A-AS1 SPPL3

More Information

• Set Membership: Intragenic, 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