Hs03951389_cn

• Gene Symbol: CLCN7
• Assay Reference Genome Location: Chr.16:1458633 on build GRCh38
• Cytoband: 16p13.3

Target Gene Details

• Entrez Gene ID: 1186
• Gene Name: chloride voltage-gated channel 7
• Gene Aliases: CLC-7, CLC7, OPTA2, OPTB4, PPP1R63
• Location: Chr.16:1444933-1475084 on Build GRCh38
• Assay Gene Location: Within Intron 8

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
CLCN7	NM_001114331.2			NP_001107803.1
	NM_001287.5			NP_001278.1
	XM_011522354.1			XP_011520656.1
	AF224741.1			AAF34711.1
	AK056551.1
	AK122944.1
	AK291404.1
	AK292136.1
	AK304796.1
	AK315978.1
	BC012737.2			AAH12737.1
	Z67743.1			CAA91556.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
esv2762143	Chr.16:1270592 - 1519404 on Build GRCh38	Gain	CCDC154 UBE2I LOC105371045 CLCN7 TSR3 UNKL TELO2 IFT140 BAIAP3 C16orf91 GNPTG PTX4
nsv471068	Chr.16:1439259 - 1460566 on Build GRCh38	Gain	CCDC154 CLCN7
esv2422427	Chr.16:10001 - 2723164 on Build GRCh38	Duplication	MIR3178 SNORD60 CHTF18 NPRL3 UBE2I DNASE1L2 MCRIP2 LOC105371046 TBL3 SLC9A3R2 LOC105371045 HS3ST6 RNPS1 LOC101929280 NME3 FAM234A NTN3 MSLN MIR3177 PGP GFER MIR3180-5 SNORA78 RPUSD1 ERVK13-1 CEMP1 LINC00235 WDR90 NARFL PDIA2 TPSG1 MIR662 ATP6V0C SSTR5-AS1 WFIKKN1 HBQ1 MIR4516 WDR24 CLCN7 SNRNP25 HN1L FAHD1 NOXO1 LOC107987233 RAB40C LOC105371038 TPSD1 ABCA3 LOC100134368 MEIOB MIR6767 HAGHL MPG MIR6859-4 RPL23AP5 CAPN15 FLJ42627 LOC105371184 EME2 MIR6511B1 LOC100287175 BRICD5 ARHGDIG PRR35 WASIR2 SNHG19 LMF1-AS1 LUC7L STUB1 TSC2 JMJD8 HBA1 GNPTG SNORA64 NDUFB10 PRSS27 MSRB1 TBC1D24 HBZ AXIN1 LOC105371049 TPSB2 E4F1 MRPL28 RHOT2 RPL3L PDPK1 METRN RHBDL1 MIR3677 RPS2 PKD1 C1QTNF8 SNHG9 CASKIN1 TPSAB1 KCTD5 PRSS29P C16orf59 RHBDF1 MLST8 C16orf91 PTX4 LINC00254 GNG13 TMEM204 SSTR5 NME4 POLR3K RAB26 LOC105371047 SNORA10 LOC107984876 HAGH UNKL TELO2 MIR940 AMDHD2 MIR6768 SYNGR3 MIR5587 NPW CCDC154 PIGQ ABCA17P NTHL1 DECR2 PRR25 TRAF7 TSR3 IFT140 TMEM8A SPSB3 MAPK8IP3 CCDC78 RAB11FIP3 RGS11 CCNF MIR1225 FBXL16 BAIAP3 CRAMP1 CACNA1H SOX8 HBM MIR3176 ECI1 LOC729652 IGFALS METTL26 FAM173A DDX11L10 HBA2 LOC106660606 LOC652276 LMF1 NUBP2 MRPS34 RNF151 ZNF598 MIR4717 NHLRC4
nsv471066	Chr.16:893361 - 1482836 on Build GRCh38	Loss	CACNA1H CCDC154 UBE2I SOX8 SSTR5 LOC105371045 TPSD1 LMF1-AS1 TSR3 TPSG1 GNPTG C1QTNF8 LMF1 TPSAB1 SSTR5-AS1 LOC107984876 PRSS29P CLCN7 UNKL BAIAP3 C16orf91 TPSB2
nsv952899	Chr.16:1142501 - 1535899 on Build GRCh38	Deletion	CACNA1H CCDC154 UBE2I TMEM204 LOC105371045 TPSD1 TSR3 IFT140 TPSG1 GNPTG LOC105371047 TPSAB1 PRSS29P CLCN7 UNKL TELO2 BAIAP3 C16orf91 TPSB2 PTX4
nsv817713	Chr.16:1426464 - 1460566 on Build GRCh38	Loss	CCDC154 LOC105371045 CLCN7
nsv819259	Chr.16:1401518 - 1510110 on Build GRCh38	Gain	CCDC154 LOC105371045 CLCN7 UNKL TELO2 C16orf91 PTX4

More Information

Additional Information:

For this assay, SNP(s) [rs77331902] 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 -

ion channel

Gene Ontology Categories:

Process(es)

transport
response to pH
ion transmembrane transport
chloride transmembrane transport
regulation of anion transmembrane transport

Function(s)

voltage-gated chloride channel activity
chloride channel activity
ATP binding
antiporter activity
chloride ion binding