Hs01519950_cn

• Gene Symbol: CBARP
• Assay Reference Genome Location: Chr.19:1230355 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 Exon 11

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
CBARP	NM_152769.2	9	2157	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	9	2276	XP_016882048.1
	BC028156.1	9	2008	AAH28156.1
	BM263341.1	1	408
	CK824551.1	1	457

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	C19orf24 CBARP GPX4 CIRBP POLR2E STK11 ABCA7 EFNA2 MIDN SBNO2 LOC102725180 CIRBP-AS1 ARHGAP45 ATP5D
nsv578268	Chr.19:1221162 - 1250886 on Build GRCh38	Loss	CBARP MIDN STK11 ATP5D
dgv136n111	Chr.19:1038223 - 1329640 on Build GRCh38	Deletion	C19orf24 CBARP GPX4 CIRBP POLR2E STK11 ABCA7 CNN2 EFNA2 MIDN SBNO2 LOC102725180 CIRBP-AS1 ARHGAP45 ATP5D
nsv470104	Chr.19:1170446 - 1325151 on Build GRCh38	Loss	C19orf24 CBARP EFNA2 MIDN SBNO2 CIRBP LOC102725180 CIRBP-AS1 STK11 ATP5D
dgv6196n54	Chr.19:1222317 - 1245701 on Build GRCh38	Loss	CBARP STK11 ATP5D
nsv953941	Chr.19:1205602 - 1322401 on Build GRCh38	Deletion	C19orf24 CBARP EFNA2 MIDN CIRBP CIRBP-AS1 STK11 ATP5D
nsv1060536	Chr.19:1228266 - 1329640 on Build GRCh38	Gain	C19orf24 CBARP EFNA2 MIDN CIRBP CIRBP-AS1 STK11 ATP5D
nsv470103	Chr.19:1086044 - 1325151 on Build GRCh38	Gain	C19orf24 CBARP GPX4 CIRBP POLR2E STK11 EFNA2 MIDN SBNO2 LOC102725180 CIRBP-AS1 ARHGAP45 ATP5D
nsv9662	Chr.19:893394 - 1317740 on Build GRCh38	Gain	C19orf24 CBARP GPX4 TMEM259 CIRBP POLR2E R3HDM4 STK11 RNU6-9 ABCA7 ARID3A KISS1R CNN2 EFNA2 LOC105372235 RNU6-2 MIDN SBNO2 WDR18 GRIN3B LOC102725180 CIRBP-AS1 ARHGAP45 ATP5D
nsv1143897	Chr.19:1228601 - 1231701 on Build GRCh38	Deletion	CBARP
nsv1160555	Chr.19:887275 - 1346084 on Build GRCh38	Deletion	C19orf24 CBARP GPX4 CIRBP POLR2E R3HDM4 STK11 ABCA7 ARID3A KISS1R CNN2 MIDN SBNO2 GRIN3B CIRBP-AS1 ARHGAP45 ATP5D TMEM259 RNU6-9 EFNA2 LOC105372235 RNU6-2 WDR18 MED16 LOC102725180
esv2758743	Chr.19:951641 - 1544934 on Build GRCh38	Gain+Loss	C19orf24 CBARP DAZAP1 GPX4 GAMT CIRBP POLR2E MUM1 STK11 NDUFS7 ABCA7 ARID3A CNN2 ADAMTSL5 REEP6 MIDN SBNO2 GRIN3B RPS15 CIRBP-AS1 ARHGAP45 ATP5D C19orf25 TMEM259 PLK5 APC2 EFNA2 LOC105372235 RNU6-2 WDR18 LOC102725180 PCSK4
nsv828368	Chr.19:1223051 - 1274100 on Build GRCh38	Gain	CBARP MIDN CIRBP CIRBP-AS1 STK11 ATP5D

More Information

Additional Information:

For this assay, SNP(s) [rs78681901] 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, 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