Hs02499764_cn

• Gene Symbol: CLCN7
• Assay Reference Genome Location: Chr.16:1455782 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: Overlaps Intron 11 - Intron 12

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
nsv571161	Chr.16:1431019 - 1457987 on Build GRCh38	Gain	CCDC154 CLCN7 LOC105371045
esv2762143	Chr.16:1270592 - 1519404 on Build GRCh38	Gain	CCDC154 UNKL UBE2I CLCN7 TSR3 LOC105371045 C16orf91 IFT140 GNPTG TELO2 PTX4 BAIAP3
nsv471068	Chr.16:1439259 - 1460566 on Build GRCh38	Gain	CCDC154 CLCN7
esv2422427	Chr.16:10001 - 2723164 on Build GRCh38	Duplication	ABCA17P ZNF598 RAB40C TBC1D24 UBE2I MIR3176 MRPS34 MIR6511B1 LOC105371038 TPSD1 SLC9A3R2 BAIAP3 MAPK8IP3 LOC105371184 WASIR2 PRSS29P TPSB2 AMDHD2 FLJ42627 PDPK1 PKD1 PTX4 MIR6767 ABCA3 MIR3180-5 PIGQ TMEM204 RPL3L HBA2 LMF1 CRAMP1 FAM234A LINC00254 ARHGDIG NUBP2 NME4 HS3ST6 NTN3 SSTR5-AS1 CCDC154 ECI1 LOC100287175 NPW POLR3K SSTR5 RAB26 RHBDF1 AXIN1 MIR6768 MIR5587 LOC729652 FAHD1 BRICD5 LOC107984876 CACNA1H HN1L NTHL1 HBZ PGP RPS2 MIR940 RNF151 RHOT2 CCDC78 DECR2 WDR24 LOC105371046 MIR3178 LOC652276 NDUFB10 IFT140 GNPTG FBXL16 CEMP1 LOC105371047 SNHG9 MIR4717 NHLRC4 UNKL NME3 E4F1 CCNF EME2 SNORA64 MSLN JMJD8 DNASE1L2 RNPS1 TSC2 MIR6859-4 LOC105371049 MSRB1 MEIOB MCRIP2 MIR1225 TSR3 LOC106660606 PRR25 HAGHL C1QTNF8 METTL26 CLCN7 RPUSD1 MLST8 LOC105371045 TPSG1 FAM173A MPG LOC100134368 STUB1 C16orf59 MRPL28 GFER LUC7L RGS11 TELO2 IGFALS LINC00235 GNG13 LMF1-AS1 PDIA2 MIR3677 SNORA10 CHTF18 TPSAB1 LOC101929280 RAB11FIP3 SYNGR3 SOX8 PRR35 CAPN15 HBQ1 NARFL KCTD5 PRSS27 WFIKKN1 CASKIN1 SNHG19 MIR3177 DDX11L10 TBL3 MIR662 SNORD60 TMEM8A TRAF7 NPRL3 NOXO1 SNORA78 MIR4516 RHBDL1 ERVK13-1 LOC107987233 HBA1 HAGH SNRNP25 METRN C16orf91 HBM RPL23AP5 SPSB3 ATP6V0C WDR90
nsv471066	Chr.16:893361 - 1482836 on Build GRCh38	Loss	SSTR5-AS1 TPSAB1 CCDC154 C1QTNF8 UNKL UBE2I CLCN7 LOC105371045 SOX8 TPSG1 SSTR5 LMF1 TPSD1 BAIAP3 PRSS29P TPSB2 TSR3 C16orf91 GNPTG LMF1-AS1 LOC107984876 CACNA1H
nsv952899	Chr.16:1142501 - 1535899 on Build GRCh38	Deletion	TPSAB1 CCDC154 UNKL UBE2I CLCN7 TMEM204 LOC105371045 TPSG1 TPSD1 BAIAP3 PRSS29P TPSB2 TSR3 C16orf91 IFT140 GNPTG TELO2 PTX4 LOC105371047 CACNA1H
nsv817713	Chr.16:1426464 - 1460566 on Build GRCh38	Loss	CCDC154 CLCN7 LOC105371045
nsv819844	Chr.16:1401518 - 1457987 on Build GRCh38	Gain	CCDC154 UNKL CLCN7 LOC105371045 C16orf91

More Information

Additional Information:

For this assay, SNP(s) [rs114169064] 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