Hs07013117_cn

• Gene Symbol: CACNA1C
• Assay Reference Genome Location: Chr.12:1988794 on build GRCh38
• Cytoband: 12p13.33

Target Gene Details

• Entrez Gene ID: 775
• Gene Name: calcium voltage-gated channel subunit alpha1 C
• Gene Aliases: CACH2, CACN2, CACNL1A1, CCHL1A1, CaV1.2, LQT8, TS
• Location: Chr.12:1969677-2697949 on Build GRCh38
• Assay Gene Location: Within Intron 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
CACNA1C	XM_006719017.2			XP_006719080.1
	XM_011521020.2			XP_011519322.1
	XM_017019926.1			XP_016875415.1
	XM_017019927.1			XP_016875416.1
	XM_017019928.1			XP_016875417.1
	XM_017019929.1			XP_016875418.1
	XM_017019930.1			XP_016875419.1
	XM_017019931.1			XP_016875420.1
	XM_017019932.1			XP_016875421.1
	XM_017019933.1			XP_016875422.1
	XM_017019934.1			XP_016875423.1
	XM_017019935.1			XP_016875424.1
	XM_017019936.1			XP_016875425.1
	XM_017019937.1			XP_016875426.1
	XM_017019938.1			XP_016875427.1
	XM_017019939.1			XP_016875428.1
	XM_017019940.1			XP_016875429.1
	XM_017019941.1			XP_016875430.1
	XM_017019942.1			XP_016875431.1
	XM_017019943.1			XP_016875432.1
	XM_017019944.1			XP_016875433.1
	XM_017019945.1			XP_016875434.1
	XM_017019946.1			XP_016875435.1
	XM_017019947.1			XP_016875436.1
	XM_017019948.1			XP_016875437.1
	XM_017019949.1			XP_016875438.1
	XM_017019950.1			XP_016875439.1
	XM_017019951.1			XP_016875440.1
	XM_017019952.1			XP_016875441.1
	XM_017019953.1			XP_016875442.1
	XM_017019954.1			XP_016875443.1
	XM_017019955.1			XP_016875444.1

Target Gene Details

• Entrez Gene ID: 196513
• Gene Name: decapping mRNA 1B
• Gene Aliases: DCP1
• Location: Chr.12:1941591-2004535 on Build GRCh38
• Assay Gene Location: Within Intron 4

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
DCP1B	NM_152640.4			NP_689853.3
	NR_135060.1
	XM_011520927.2			XP_011519229.1
	AK056200.1			BAB71118.1
	AK299203.1
	AK310475.1
	AY146652.1			AAN62764.1
	BC043437.2			AAH43437.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv521838	Chr.12:1951414 - 2190514 on Build GRCh38	Gain	DCP1B CACNA1C-IT2 CACNA1C
nsv1038533	Chr.12:1974559 - 2000280 on Build GRCh38	Gain	DCP1B CACNA1C
nsv1042378	Chr.12:1968731 - 2020607 on Build GRCh38	Gain	DCP1B CACNA1C
nsv1040370	Chr.12:1912229 - 2561851 on Build GRCh38	Gain	DCP1B CACNA1C-IT2 CACNA2D4 CACNA1C-IT3 CACNA1C-AS4 LINC00940 CACNA1C
nsv525455	Chr.12:1956204 - 2025860 on Build GRCh38	Loss	DCP1B CACNA1C

More Information

Additional Information:

For this assay, SNP(s) [rs113663794,rs115629179] 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, mRNA capping factor

Gene Ontology Categories:

Process(es)

immune system development
positive regulation of cytosolic calcium ion concentration
heart development
regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion
embryonic forelimb morphogenesis
calcium-mediated signaling using extracellular calcium source
camera-type eye development
regulation of insulin secretion
calcium ion transport into cytosol
cardiac conduction
calcium ion transmembrane transport via high voltage-gated calcium channel
calcium ion transmembrane transport
cardiac muscle cell action potential involved in contraction
membrane depolarization during cardiac muscle cell action potential
membrane depolarization during AV node cell action potential
cell communication by electrical coupling involved in cardiac conduction
regulation of heart rate by cardiac conduction
regulation of ventricular cardiac muscle cell action potential
membrane depolarization during atrial cardiac muscle cell action potential
nuclear-transcribed mRNA catabolic process, nonsense-mediated decay
deadenylation-dependent decapping of nuclear-transcribed mRNA
deadenylation-independent decapping of nuclear-transcribed mRNA
positive regulation of catalytic activity
exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay

Function(s)

voltage-gated calcium channel activity
protein binding
calmodulin binding
high voltage-gated calcium channel activity
metal ion binding
alpha-actinin binding
voltage-gated calcium channel activity involved in cardiac muscle cell action potential
voltage-gated calcium channel activity involved in AV node cell action potential
mRNA binding
enzyme activator activity
hydrolase activity
enzyme regulator activity