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See other C4A CNV Assays ›
Gene Symbol
C4A
Assay Reference Genome
Location

Chr.6:31996081 on build GRCh38
Cytoband
6p21.33
Assay ID Hs07226349_cn
Size
Availability Made To Order
Catalog # 4400291
Price
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Assay Details

Target Gene Details

Entrez Gene ID:

 720

Gene Name:

 complement component 4A (Rodgers blood group)

Gene Aliases:

 C4, C4A2, C4A3, C4A4, C4A6, C4AD, C4S, CO4, CPAMD2, RG

Location:

 Chr.6:31982057-32002680 on Build GRCh38

Assay Gene Location:

 Overlaps Exon 26 - Intron 26
Gene Symbol Transcript Accession Exon Location Assay Transcript Location Protein ID
C4A NM_001252204.1 NP_001239133.1
NM_007293.2 NP_009224.2
AB209989.1
AK293191.1
BC063289.1 AAH63289.1
BC144546.1
BC146673.1
BC146849.1
BC151204.1
BC171786.1
K02403.1 AAB59537.1

Target Copy Number Variation Details

DGV Version:

 Release date: 2016-05-15, GRCh GRCh38
Target
Variation		 Location CNV
Subtype		 Genes
nsv602038 Chr.6:31993705 - 32006368 on Build GRCh38 Loss CYP21A1P C4A
dgv10474n54 Chr.6:31996009 - 32014996 on Build GRCh38 Gain TNXA CYP21A1P C4A C4B
nsv1112900 Chr.6:31455323 - 33480423 on Build GRCh38 Deletion PSMB8-AS1 AGER VARS CSNK2B LTB PSMB8 NOTCH4 RING1 SKIV2L COL11A2 ZBTB22 ATP6V1G2 PRRC2A AIF1 B3GALT4 DDX39B-AS1 FKBPL C4B MIR6721 MCCD1 SAPCD1-AS1 CUTA SLC44A4 BRD2 DDAH2 MIR5004 PPT2-EGFL8 NCR3 RXRB MIR6832 CYP21A1P AGPAT1 KIFC1 C4A HLA-DRA VPS52 MSH5-SAPCD1 MSH5 LY6G6C NEU1 NFKBIL1 DDX39B LOC101929163 LOC100294145 HLA-DPB1 TNXA CYP21A2 C6orf25 LTA MIR219A1 C2-AS1 MIR1236 HLA-DMA HLA-DQB2 DXO MIR4646 CLIC1 ABHD16A ATF6B LY6G6E LOC100507547 STK19 APOM PPT2 ZBTB9 MICB TAPBP C2 HCP5 GPANK1 PPP1R2P1 HLA-DRB1 RGL2 ATP6V1G2-DDX39B BAG6 LOC102725068 C6orf10 ZBTB12 GPSM3 HLA-DOA HLA-DPB2 PRRT1 MIR6873 TNXB SAPCD1 HSPA1B LY6G5B HLA-DQB1 HSD17B8 NELFE SNORD52 HLA-DOB LY6G6F HLA-DPA1 TNF SYNGAP1 EGFL8 SNORD117 SNORA38 MIR6833 CFB HLA-DQA2 PFDN6 HLA-DQA1 HCG23 PSMB9 C6orf47 LY6G6D BTNL2 HLA-DQB1-AS1 LST1 SNORD48 PHF1 WDR46 HLA-DRB6 HSPA1L SNORD84 DAXX HCG26 TAP1 C6orf48 LSM2 RNF5 MIR3135B PBX2 RPS18 HCG25 VWA7 MIR6834 EHMT2 LY6G5C HLA-DMB HLA-DRB5 TAP2 SLC39A7 HCG24 LOC100287329 HSPA1A
dgv10404n54 Chr.6:31312550 - 32516591 on Build GRCh38 Loss GPANK1 AGER VARS ATP6V1G2-DDX39B BAG6 CSNK2B LOC102725068 C6orf10 LTB ZBTB12 NOTCH4 SKIV2L GPSM3 ATP6V1G2 PRRC2A AIF1 PRRT1 MICA TNXB SAPCD1 DDX39B-AS1 HSPA1B LY6G5B FKBPL C4B MIR6721 MCCD1 SAPCD1-AS1 SLC44A4 NELFE SNORD52 DDAH2 LY6G6F TNF PPT2-EGFL8 NCR3 EGFL8 SNORD117 SNORA38 MIR6833 MIR6832 CYP21A1P AGPAT1 CFB C4A HLA-DRA MSH5-SAPCD1 MSH5 LY6G6C NEU1 HCG23 NFKBIL1 DDX39B LOC101929163 C6orf47 TNXA LY6G6D CYP21A2 BTNL2 LST1 SNORD48 C6orf25 LTA C2-AS1 MIR1236 HLA-B DXO MIR4646 CLIC1 HSPA1L ABHD16A SNORD84 HCG26 C6orf48 ATF6B LSM2 RNF5 PBX2 VWA7 LY6G6E EHMT2 LY6G5C MIR6891 LOC100507547 STK19 APOM PPT2 MICB C2 HCP5 LOC100287329 HSPA1A
esv3890827 Chr.6:31981575 - 32043703 on Build GRCh38 Gain+Loss TNXA CYP21A1P CYP21A2 TNXB C4A C4B
nsv602041 Chr.6:31996100 - 31996613 on Build GRCh38 Loss C4A
nsv284 Chr.6:31957962 - 32028944 on Build GRCh38 Deletion STK19 TNXA CYP21A1P NELFE C4A DXO C4B SKIV2L
esv3333985 Chr.6:31990996 - 32007795 on Build GRCh38 Duplication CYP21A1P C4A
nsv601971 Chr.6:31971488 - 32046679 on Build GRCh38 Gain STK19 TNXA CYP21A1P CYP21A2 TNXB C4A DXO C4B
nsv428141 Chr.6:31903735 - 32125066 on Build GRCh38 Gain+Loss TNXA CYP21A2 NELFE SKIV2L C2-AS1 MIR1236 STK19 CYP21A1P TNXB CFB C4A DXO C2 C4B ATF6B
dgv10403n54 Chr.6:31312324 - 32049763 on Build GRCh38 Loss GPANK1 VARS ATP6V1G2-DDX39B BAG6 CSNK2B LOC102725068 LTB ZBTB12 SKIV2L ATP6V1G2 PRRC2A AIF1 MICA TNXB SAPCD1 DDX39B-AS1 HSPA1B LY6G5B C4B MCCD1 SAPCD1-AS1 SLC44A4 NELFE SNORD52 DDAH2 LY6G6F TNF NCR3 SNORD117 SNORA38 MIR6832 CYP21A1P CFB C4A MSH5-SAPCD1 MSH5 LY6G6C NEU1 NFKBIL1 DDX39B C6orf47 TNXA LY6G6D CYP21A2 LST1 SNORD48 C6orf25 LTA C2-AS1 MIR1236 HLA-B DXO MIR4646 CLIC1 HSPA1L ABHD16A SNORD84 HCG26 C6orf48 LSM2 VWA7 LY6G6E EHMT2 LY6G5C MIR6891 STK19 APOM MICB C2 HCP5 LOC100287329 HSPA1A
nsv601991 Chr.6:31984179 - 32005239 on Build GRCh38 Loss C4A
nsv602034 Chr.6:31991487 - 32002199 on Build GRCh38 Loss C4A
nsv10824 Chr.6:31980357 - 32046247 on Build GRCh38 Gain+Loss STK19 TNXA CYP21A1P CYP21A2 TNXB C4A C4B
dgv20n31 Chr.6:31990245 - 32046126 on Build GRCh38 Gain TNXA CYP21A1P CYP21A2 TNXB C4A C4B
dgv10468n54 Chr.6:31983430 - 32045574 on Build GRCh38 Loss TNXA CYP21A1P CYP21A2 TNXB C4A C4B
esv28110 Chr.6:31980130 - 32048749 on Build GRCh38 Gain+Loss STK19 TNXA CYP21A1P CYP21A2 TNXB C4A C4B
dgv10466n54 Chr.6:31980320 - 32029165 on Build GRCh38 Loss STK19 TNXA CYP21A1P C4A C4B
dgv10463n54 Chr.6:31817661 - 32683279 on Build GRCh38 Loss HLA-DRB1 AGER C6orf10 ZBTB12 NOTCH4 SKIV2L GPSM3 PRRT1 TNXB HSPA1B FKBPL C4B MIR6721 HLA-DQB1 SLC44A4 NELFE SNORD52 PPT2-EGFL8 EGFL8 MIR6833 CYP21A1P AGPAT1 CFB C4A HLA-DRA HLA-DQA1 NEU1 HCG23 LOC101929163 TNXA CYP21A2 BTNL2 HLA-DQB1-AS1 SNORD48 HLA-DRB6 C2-AS1 MIR1236 DXO C6orf48 ATF6B RNF5 PBX2 EHMT2 LOC100507547 HLA-DRB5 STK19 PPT2 C2 HSPA1A
dgv10472n54 Chr.6:31985690 - 32812026 on Build GRCh38 Loss HLA-DRB1 AGER TNXA CYP21A2 BTNL2 HLA-DQB1-AS1 C6orf10 NOTCH4 GPSM3 HLA-DRB6 PRRT1 HLA-DQB2 TNXB FKBPL C4B MIR6721 HLA-DQB1 ATF6B RNF5 MIR3135B PBX2 PPT2-EGFL8 EGFL8 LOC100507547 HLA-DRB5 PPT2 MIR6833 CYP21A1P AGPAT1 C4A HLA-DRA HLA-DQA2 HLA-DQA1 HCG23 LOC101929163
nsv1126749 Chr.6:31457323 - 32594423 on Build GRCh38 Deletion GPANK1 HLA-DRB1 AGER VARS ATP6V1G2-DDX39B BAG6 CSNK2B LOC102725068 C6orf10 LTB ZBTB12 NOTCH4 SKIV2L GPSM3 ATP6V1G2 PRRC2A AIF1 PRRT1 TNXB SAPCD1 DDX39B-AS1 HSPA1B LY6G5B FKBPL C4B MIR6721 MCCD1 SAPCD1-AS1 SLC44A4 NELFE SNORD52 DDAH2 LY6G6F TNF PPT2-EGFL8 NCR3 EGFL8 SNORD117 SNORA38 MIR6833 MIR6832 CYP21A1P AGPAT1 CFB C4A HLA-DRA MSH5-SAPCD1 MSH5 LY6G6C NEU1 HCG23 NFKBIL1 DDX39B LOC101929163 C6orf47 TNXA LY6G6D CYP21A2 BTNL2 LST1 SNORD48 C6orf25 LTA HLA-DRB6 C2-AS1 MIR1236 DXO MIR4646 CLIC1 HSPA1L ABHD16A SNORD84 HCG26 C6orf48 ATF6B LSM2 RNF5 PBX2 VWA7 LY6G6E EHMT2 LY6G5C LOC100507547 HLA-DRB5 STK19 APOM PPT2 MICB C2 HCP5 LOC100287329 HSPA1A
nsv1073969 Chr.6:31456422 - 33480523 on Build GRCh38 Deletion PSMB8-AS1 AGER VARS CSNK2B LTB PSMB8 NOTCH4 RING1 SKIV2L COL11A2 ZBTB22 ATP6V1G2 PRRC2A AIF1 B3GALT4 DDX39B-AS1 FKBPL C4B MIR6721 MCCD1 SAPCD1-AS1 CUTA SLC44A4 BRD2 DDAH2 MIR5004 PPT2-EGFL8 NCR3 RXRB MIR6832 CYP21A1P AGPAT1 KIFC1 C4A HLA-DRA VPS52 MSH5-SAPCD1 MSH5 LY6G6C NEU1 NFKBIL1 DDX39B LOC101929163 LOC100294145 HLA-DPB1 TNXA CYP21A2 C6orf25 LTA MIR219A1 C2-AS1 MIR1236 HLA-DMA HLA-DQB2 DXO MIR4646 CLIC1 ABHD16A ATF6B LY6G6E LOC100507547 STK19 APOM PPT2 ZBTB9 MICB TAPBP C2 HCP5 GPANK1 PPP1R2P1 HLA-DRB1 RGL2 ATP6V1G2-DDX39B BAG6 LOC102725068 C6orf10 ZBTB12 GPSM3 HLA-DOA HLA-DPB2 PRRT1 MIR6873 TNXB SAPCD1 HSPA1B LY6G5B HLA-DQB1 HSD17B8 NELFE SNORD52 HLA-DOB LY6G6F HLA-DPA1 TNF SYNGAP1 EGFL8 SNORD117 SNORA38 MIR6833 CFB HLA-DQA2 PFDN6 HLA-DQA1 HCG23 PSMB9 C6orf47 LY6G6D BTNL2 HLA-DQB1-AS1 LST1 SNORD48 PHF1 WDR46 HLA-DRB6 HSPA1L SNORD84 DAXX HCG26 TAP1 C6orf48 LSM2 RNF5 MIR3135B PBX2 RPS18 HCG25 VWA7 MIR6834 EHMT2 LY6G5C HLA-DMB HLA-DRB5 TAP2 SLC39A7 HCG24 LOC100287329 HSPA1A
nsv819957 Chr.6:31988273 - 32033484 on Build GRCh38 Loss TNXA CYP21A1P C4A C4B
nsv981129 Chr.6:31980992 - 32057861 on Build GRCh38 Duplication STK19 TNXA CYP21A1P CYP21A2 TNXB C4A C4B
nsv823507 Chr.6:31995856 - 32028806 on Build GRCh38 Loss TNXA CYP21A1P C4A C4B

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More Information


Important Information

The Hs07226349_cn assay specifically detects the C4A gene, a member of the C4 gene family which contains genes encoding functionally distinct C4A and C4B protein isoforms. Assay Hs07226350_cn is available to detect the C4B gene. Long and short forms of the C4 genes exist due to the presence or absence of a 6.4 kb endogenous HERV-K retrovirus inserted into intron 9. Assay Hs07226352_cn detects the long form (aka C4L) and Hs07226351_cn detects the short form (aka C4S) of the C4A and C4B genes. Individuals can have deletions or multiple copies of the C4 genes. The number of C4A and C4B genes equals the number of C4 long and C4 short gene forms in an individual.
Hs07226350_cn assay for C4B gene

Additional Information:

Set Membership:

 Intragenic Non-exonic DGV Variation Validated

Panther Classification:

Molecular Function -

protease inhibitor

Gene Ontology Categories:

Function(s) Process(es)


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