Hs00268660_cn

• Gene Symbol: CBARP
• Assay Reference Genome Location: Chr.19:1233665 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: Overlaps Intron 9 - Exon 10

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_017026557.1			XP_016882046.1
	XM_017026558.1			XP_016882047.1
	XM_017026559.1			XP_016882048.1
	BC028156.1			AAH28156.1
	BM743507.1
	BX094586.1

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

More Information

Additional Information:

For this assay, SNP(s) [rs141669289] 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, 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