Hs02572682_cn

• Gene Symbol: CACNA1H
• Assay Reference Genome Location: Chr.16:1221658 on build GRCh38
• Cytoband: 16p13.3

Target Gene Details

• Entrez Gene ID: 8912
• Gene Name: calcium voltage-gated channel subunit alpha1 H
• Gene Aliases: CACNA1HB, Cav3.2, ECA6, EIG6
• Location: Chr.16:1153241-1221772 on Build GRCh38
• Assay Gene Location: Within Exon 35

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
CACNA1H	NM_001005407.1	34	7956	NP_001005407.1
	NM_021098.2	35	7974	NP_066921.2
	XM_005255652.4	34	7802	XP_005255709.1
	XM_006720963.3	34	7835	XP_006721026.1
	XM_006720964.3	35	7787	XP_006721027.1
	XM_006720965.3	34	7769	XP_006721028.1
	XM_011522724.2	31	7284	XP_011521026.1
	XM_017023819.1	34	7796	XP_016879308.1
	AF070604.1	1	1615
	AK074965.1	12	3357
	CA335096.1	1	99

Target Gene Details

• Entrez Gene ID: 25823
• Gene Name: tryptase gamma 1
• Gene Aliases: PRSS31, TMT, trpA
• Location: Chr.16:1221651-1226454 on Build GRCh38
• Assay Gene Location: Overlaps - Exon 7

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
TPSG1	NM_012467.3			NP_036599.3
	XM_011522446.2			XP_011520748.1
	XM_011522447.2			XP_011520749.1
	BE552396.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
esv2422427	Chr.16:10001 - 2723164 on Build GRCh38	Duplication	SNRNP25 JMJD8 LOC105371046 STUB1 GFER MIR1225 TMEM204 MRPS34 PRSS27 RHBDL1 MIR3180-5 AMDHD2 TPSB2 NTN3 MIR6767 FLJ42627 FAM173A C16orf91 MSRB1 MEIOB MSLN BAIAP3 CCDC154 RHBDF1 RNPS1 PDIA2 LOC105371045 SOX8 MRPL28 NPW LOC729652 METTL26 TBL3 NTHL1 LUC7L MIR3178 AXIN1 WASIR2 TBC1D24 CCNF WDR90 FAHD1 SSTR5 NME4 LMF1 CCDC78 DNASE1L2 MIR4717 UNKL LOC652276 C1QTNF8 TPSAB1 PGP BRICD5 PDPK1 MPG RPS2 SNORA64 LINC00235 MIR3176 TSR3 NHLRC4 GNPTG PRR35 LOC100134368 SNORD60 ECI1 MIR6511B1 FAM234A MLST8 POLR3K SYNGR3 HBA1 ABCA17P SSTR5-AS1 ARHGDIG LOC107984876 LOC100287175 CLCN7 NPRL3 SNORA78 TELO2 WFIKKN1 GNG13 HBZ CEMP1 LINC00254 PRR25 RAB26 PRSS29P HBM IGFALS RHOT2 NOXO1 METRN RAB11FIP3 SNHG9 RAB40C MCRIP2 TPSD1 NUBP2 ATP6V0C NARFL LOC105371038 CASKIN1 MIR6859-4 NME3 CRAMP1 LOC106660606 LOC101929280 ZNF598 LOC105371049 UBE2I MIR5587 RNF151 MIR3677 CACNA1H HAGHL TMEM8A E4F1 RPUSD1 SPSB3 LOC105371184 LMF1-AS1 MIR662 IFT140 RPL23AP5 RPL3L FBXL16 CAPN15 NDUFB10 ABCA3 CHTF18 HN1L LOC105371047 PTX4 PIGQ C16orf59 TPSG1 HS3ST6 DECR2 LOC107987233 MIR3177 MIR940 HBQ1 KCTD5 MIR4516 WDR24 MAPK8IP3 MIR6768 HBA2 ERVK13-1 DDX11L10 HAGH EME2 SNHG19 TSC2 SNORA10 SLC9A3R2 RGS11 TRAF7 PKD1
nsv571109	Chr.16:1205545 - 1287716 on Build GRCh38	Gain	TPSB2 CACNA1H TPSD1 PRSS29P TPSAB1 TPSG1
nsv428316	Chr.16:929650 - 1363252 on Build GRCh38	Gain+Loss	SOX8 GNPTG UNKL PRSS29P C1QTNF8 TPSAB1 LMF1-AS1 TPSB2 UBE2I BAIAP3 CACNA1H TPSD1 SSTR5-AS1 TPSG1 SSTR5 LMF1 TSR3
nsv1051302	Chr.16:1162523 - 1299208 on Build GRCh38	Gain	TPSB2 CACNA1H TPSD1 PRSS29P TPSAB1 TPSG1
nsv1160327	Chr.16:1063695 - 1222472 on Build GRCh38	Deletion	CACNA1H SSTR5-AS1 C1QTNF8 TPSG1 SSTR5
nsv833117	Chr.16:1217597 - 1318867 on Build GRCh38	Loss	TPSB2 UBE2I CACNA1H TPSD1 PRSS29P TPSAB1 TPSG1
nsv571101	Chr.16:1078406 - 1287716 on Build GRCh38	Gain	TPSB2 CACNA1H TPSD1 SSTR5-AS1 PRSS29P C1QTNF8 TPSAB1 TPSG1 SSTR5
nsv571108	Chr.16:1202441 - 1283386 on Build GRCh38	Loss	TPSB2 CACNA1H TPSD1 PRSS29P TPSAB1 TPSG1
nsv471066	Chr.16:893361 - 1482836 on Build GRCh38	Loss	LOC105371045 SOX8 GNPTG CLCN7 UNKL PRSS29P C1QTNF8 TPSAB1 LMF1-AS1 TPSB2 UBE2I C16orf91 BAIAP3 CACNA1H TPSD1 CCDC154 SSTR5-AS1 TPSG1 SSTR5 LMF1 LOC107984876 TSR3
dgv2691n100	Chr.16:1002943 - 1247707 on Build GRCh38	Gain	TPSB2 CACNA1H SSTR5-AS1 C1QTNF8 TPSAB1 TPSG1 SSTR5
nsv952899	Chr.16:1142501 - 1535899 on Build GRCh38	Deletion	LOC105371045 GNPTG CLCN7 TELO2 UNKL TMEM204 PRSS29P TPSAB1 IFT140 TPSB2 UBE2I C16orf91 LOC105371047 BAIAP3 CACNA1H PTX4 TPSD1 CCDC154 TPSG1 TSR3
nsv571105	Chr.16:1148938 - 1263381 on Build GRCh38	Loss	TPSB2 CACNA1H TPSD1 PRSS29P TPSAB1 TPSG1
nsv571102	Chr.16:1084818 - 1257675 on Build GRCh38	Loss	TPSB2 CACNA1H TPSD1 C1QTNF8 TPSAB1 TPSG1

More Information

• Set Membership: Intragenic, Exonic, Non-exonic, DGV Variation

Panther Classification:

Molecular Function -

voltage-gated ion channel, serine protease

Gene Ontology Categories:

Process(es)

transport
muscle contraction
muscle organ development
myoblast fusion
regulation of heart contraction
aldosterone biosynthetic process
cellular response to hormone stimulus
cortisol biosynthetic process
regulation of ion transmembrane transport
cellular response to potassium ion
regulation of membrane potential
calcium ion import
calcium ion transmembrane transport
membrane depolarization during action potential
positive regulation of acrosome reaction
proteolysis

Function(s)

low voltage-gated calcium channel activity
metal ion binding
scaffold protein binding
serine-type endopeptidase activity
serine-type peptidase activity