Hs00146205_cn

• Gene Symbol: HRC
• Assay Reference Genome Location: Chr.19:49153301 on build GRCh38
• Cytoband: 19q13.33

Target Gene Details

• Entrez Gene ID: 3270
• Gene Name: histidine rich calcium binding protein
• Gene Aliases: -
• Location: Chr.19:49151198-49155443 on Build GRCh38
• Assay Gene Location: Overlaps Intron 1 - Intron 2

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
HRC	NM_002152.2			NP_002143.1
	XM_017026733.1			XP_016882222.1
	BC069795.1			AAH69795.1
	BC069802.1			AAH69802.1
	BC094691.1			AAH94691.1
	BC112355.1			AAI12356.1
	M60052.1			AAA88071.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv470149	Chr.19:49129515 - 49155110 on Build GRCh38	Loss	HRC PPFIA3
nsv833859	Chr.19:48997009 - 49173266 on Build GRCh38	Loss	RUVBL2 CGB3 CGB5 MIR6798 LOC101059948 SNRNP70 C19orf73 SNAR-G1 PPFIA3 LHB CGB2 CGB8 SNAR-G2 NTF4 KCNA7 CGB1 TRPM4 HRC LIN7B CGB7
nsv9739	Chr.19:47901840 - 50143063 on Build GRCh38	Gain+Loss	SCAF1 RUVBL2 IRF3 SNAR-A7 SNORD33 MIR6798 LOC101928295 LOC101059948 SNAR-A3 C19orf73 TEAD2 RASIP1 SNORD32A PTH2 CGB2 CARD8 LIN7B SYNGR4 NUCB1 FLT3LG MIR4751 PTOV1 TBC1D17 SNAR-A9 SNAR-A5 MIR4749 KCNJ14 SPHK2 MIR4324 CPT1C NTF4 SIGLEC16 PRMT1 GRWD1 ADM5 SEC1P NUCB1-AS1 DHDH BAX PLA2G4C-AS1 LOC105372430 DKKL1 SNAR-A11 NUP62 SNAR-G1 FUZ CARD8-AS1 RRAS SNORD35B SNAR-D TRPM4 RPS11 FAM83E SNAR-A2 FUT2 FCGRT PTOV1-AS2 CGB5 PPP1R15A SNORD34 FTL RPL18 TULP2 GFY SNAR-A6 SNAR-C1 SNAR-C2 CCDC155 PLA2G4C PRRG2 FGF21 HRC ATF5 CGB7 BCL2L12 LOC100287477 SLC17A7 IL4I1 MAMSTR CGB3 SNAR-A10 KDELR1 MIR6800 PPFIA3 SNAR-B2 SNAR-C3 CCDC114 IZUMO1 SNAR-C4 PNKP SPACA4 TSKS CYTH2 SNAR-G2 NTN5 FLJ26850 BSPH1 NOSIP DBP MIR4750 PRR12 ALDH16A1 HSD17B14 SLC6A16 LIG1 RPL13A SNRNP70 SNAR-A4 CA11 SNAR-C5 EMP3 SNAR-A14 GRIN2D KCNA7 MIR6799 SIGLEC11 PLEKHA4 BCAT2 TMEM143 ELSPBP1 AP2A1 SNORD35A SNAR-A8 CGB8 LOC105447645 MIR150 CGB1 ZNF473 FUT1 SNAR-A13 AKT1S1 RCN3 CABP5 SNAR-B1 SNAR-A12 LMTK3 ZNF114 GYS1 MED25 LHB PIH1D1 CD37 PTOV1-AS1 SULT2B1 VRK3 C19orf68 MIR5088 SNAR-A1
dgv3621n100	Chr.19:49092699 - 49163985 on Build GRCh38	Gain	TRPM4 HRC SNRNP70 LIN7B C19orf73 PPFIA3
nsv524235	Chr.19:49136745 - 49158770 on Build GRCh38	Gain	TRPM4 HRC PPFIA3
nsv1060108	Chr.19:49118098 - 49183334 on Build GRCh38	Gain	TRPM4 HRC LIN7B C19orf73 PPFIA3
esv2760526	Chr.19:49115521 - 49170761 on Build GRCh38	Gain	TRPM4 HRC LIN7B C19orf73 PPFIA3
esv3644616	Chr.19:49147706 - 49163844 on Build GRCh38	Gain	TRPM4 HRC PPFIA3
dgv667e214	Chr.19:49130606 - 49174364 on Build GRCh38	Gain	TRPM4 HRC PPFIA3

More Information

Additional Information:

For this assay, SNP(s) [rs76146490] 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

Gene Ontology Categories:

Process(es)

regulation of heart rate
muscle contraction
positive regulation of heart rate
regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum
regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion
regulation of peptidyl-serine phosphorylation
positive regulation of heart contraction
regulation of cytosolic calcium ion concentration
negative regulation of cytosolic calcium ion concentration
regulation of ryanodine-sensitive calcium-release channel activity
regulation of cell communication by electrical coupling involved in cardiac conduction
positive regulation of relaxation of cardiac muscle
regulation of calcium ion transmembrane transport

Function(s)

calcium ion binding
protein binding
ion channel binding
ATPase binding