Hs04485223_cn

• Gene Symbol: CBARP
• Assay Reference Genome Location: Chr.19:1237608 on build GRCh38
• Cytoband: 19p13.3

Target Gene Details

• Entrez Gene ID: 255057
• Gene Name: CACN beta subunit associated regulatory protein
• Gene Aliases: BARP, C19orf26, DOS
• Location: Chr.19:1228287-1238512 on Build GRCh38
• Assay Gene Location: Within Intron 2

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
CBARP	NM_152769.2			NP_689982.3
	XM_017026555.1			XP_016882044.1
	XM_017026556.1			XP_016882045.1
	XM_017026559.1			XP_016882048.1
	XM_017026560.1			XP_016882049.1
	XM_017026561.1			XP_016882050.1
	XM_017026562.1			XP_016882051.1
	AW163263.1
	BC028156.1			AAH28156.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv1058677	Chr.19:1054061 - 1283189 on Build GRCh38	Loss	LOC102725180 ARHGAP45 POLR2E CIRBP-AS1 EFNA2 C19orf24 CBARP SBNO2 CIRBP MIDN GPX4 ABCA7 ATP5D STK11
nsv578268	Chr.19:1221162 - 1250886 on Build GRCh38	Loss	MIDN ATP5D CBARP STK11
dgv136n111	Chr.19:1038223 - 1329640 on Build GRCh38	Deletion	LOC102725180 ARHGAP45 POLR2E CIRBP-AS1 EFNA2 C19orf24 CBARP SBNO2 CIRBP MIDN GPX4 ABCA7 CNN2 ATP5D STK11
nsv1071886	Chr.19:1237600 - 1238101 on Build GRCh38	Deletion	CBARP
nsv470104	Chr.19:1170446 - 1325151 on Build GRCh38	Loss	SBNO2 CIRBP LOC102725180 MIDN CIRBP-AS1 EFNA2 C19orf24 ATP5D CBARP STK11
dgv6196n54	Chr.19:1222317 - 1245701 on Build GRCh38	Loss	ATP5D CBARP STK11
nsv953941	Chr.19:1205602 - 1322401 on Build GRCh38	Deletion	CIRBP MIDN CIRBP-AS1 EFNA2 C19orf24 ATP5D CBARP STK11
nsv1060536	Chr.19:1228266 - 1329640 on Build GRCh38	Gain	CIRBP MIDN CIRBP-AS1 EFNA2 C19orf24 ATP5D CBARP STK11
nsv470103	Chr.19:1086044 - 1325151 on Build GRCh38	Gain	LOC102725180 ARHGAP45 POLR2E CIRBP-AS1 EFNA2 C19orf24 CBARP SBNO2 CIRBP MIDN GPX4 ATP5D STK11
nsv9662	Chr.19:893394 - 1317740 on Build GRCh38	Gain	KISS1R LOC102725180 ARHGAP45 POLR2E RNU6-2 CIRBP-AS1 EFNA2 C19orf24 ARID3A CBARP SBNO2 GRIN3B CIRBP RNU6-9 WDR18 MIDN LOC105372235 R3HDM4 TMEM259 GPX4 ABCA7 CNN2 ATP5D STK11
nsv1160555	Chr.19:887275 - 1346084 on Build GRCh38	Deletion	KISS1R LOC102725180 ARHGAP45 MED16 POLR2E RNU6-2 EFNA2 CBARP GRIN3B RNU6-9 WDR18 MIDN TMEM259 ABCA7 CNN2 STK11 CIRBP-AS1 C19orf24 ARID3A SBNO2 CIRBP LOC105372235 R3HDM4 GPX4 ATP5D
esv2758743	Chr.19:951641 - 1544934 on Build GRCh38	Gain+Loss	APC2 LOC102725180 ARHGAP45 POLR2E RNU6-2 EFNA2 C19orf25 CBARP PCSK4 DAZAP1 GRIN3B NDUFS7 WDR18 MIDN PLK5 TMEM259 ABCA7 CNN2 REEP6 STK11 CIRBP-AS1 GAMT MUM1 ADAMTSL5 C19orf24 ARID3A RPS15 SBNO2 CIRBP LOC105372235 GPX4 ATP5D
nsv578272	Chr.19:1233682 - 1244776 on Build GRCh38	Loss	ATP5D CBARP
nsv828368	Chr.19:1223051 - 1274100 on Build GRCh38	Gain	CIRBP MIDN CIRBP-AS1 ATP5D CBARP STK11

More Information

Additional Information:

For this assay, SNP(s) [rs113261469] 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 -

voltage-gated ion channel

Gene Ontology Categories:

Process(es)

negative regulation of calcium ion-dependent exocytosis
negative regulation of voltage-gated calcium channel activity
negative regulation of calcium ion transmembrane transport

Function(s)

ion channel binding