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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
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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 C4A CYP21A1P
dgv10474n54 Chr.6:31996009 - 32014996 on Build GRCh38 Gain C4B C4A TNXA CYP21A1P
nsv1112900 Chr.6:31455323 - 33480423 on Build GRCh38 Deletion PHF1 HCG23 HLA-DPB1 KIFC1 BRD2 HCG26 VARS PBX2 C4B LOC100287329 C6orf10 ZBTB12 HLA-DPA1 DDX39B-AS1 MIR5004 C6orf48 HLA-DQA1 MICB EGFL8 MIR6721 HCP5 ZBTB22 VPS52 C6orf47 EHMT2 HLA-DOB GPANK1 HLA-DRB1 CLIC1 CFB FKBPL C2 BAG6 MIR219A1 VWA7 GPSM3 SKIV2L LY6G6D HSPA1L MIR4646 MIR6832 PSMB8-AS1 HLA-DRB5 HLA-DRB6 SNORD117 LY6G6C BTNL2 LOC100507547 APOM LY6G6F HLA-DMB LSM2 TNF MIR6833 SLC44A4 SLC39A7 PPT2 HLA-DQA2 TNXB HLA-DRA PFDN6 AGER CSNK2B SYNGAP1 MIR6834 MCCD1 CYP21A2 PRRT1 NELFE SNORD52 SNORD84 MSH5-SAPCD1 HLA-DQB1 LOC102725068 AIF1 AGPAT1 LTA PPT2-EGFL8 C2-AS1 SAPCD1 ATP6V1G2 NFKBIL1 HSD17B8 DXO SNORA38 PSMB8 DDAH2 MSH5 RGL2 LST1 LOC100294145 RXRB COL11A2 HLA-DQB1-AS1 RPS18 PPP1R2P1 DDX39B HSPA1B TAP2 HCG24 HCG25 LOC101929163 MIR1236 C6orf25 LY6G5B DAXX TNXA LY6G5C SAPCD1-AS1 TAP1 MIR3135B HLA-DPB2 TAPBP ZBTB9 B3GALT4 C4A ATP6V1G2-DDX39B CYP21A1P STK19 ABHD16A LY6G6E HLA-DQB2 LTB ATF6B MIR6873 RING1 NOTCH4 HSPA1A NEU1 PSMB9 NCR3 RNF5 HLA-DOA WDR46 HLA-DMA PRRC2A CUTA SNORD48
dgv10404n54 Chr.6:31312550 - 32516591 on Build GRCh38 Loss LTA PPT2-EGFL8 C2-AS1 HCG23 SAPCD1 ATP6V1G2 NFKBIL1 DXO SNORA38 HCG26 VARS DDAH2 MSH5 PBX2 C4B LST1 LOC100287329 C6orf10 ZBTB12 DDX39B-AS1 C6orf48 DDX39B HSPA1B MICB EGFL8 LOC101929163 MIR1236 C6orf25 MIR6721 HCP5 LY6G5B C6orf47 EHMT2 GPANK1 CLIC1 TNXA CFB LY6G5C SAPCD1-AS1 FKBPL C2 BAG6 VWA7 GPSM3 MIR6891 SKIV2L C4A LY6G6D ATP6V1G2-DDX39B HSPA1L MIR4646 CYP21A1P MIR6832 STK19 ABHD16A SNORD117 LY6G6C BTNL2 LY6G6E LOC100507547 LTB ATF6B APOM LY6G6F LSM2 TNF MICA MIR6833 SLC44A4 PPT2 TNXB HLA-DRA NOTCH4 HSPA1A AGER CSNK2B NEU1 MCCD1 CYP21A2 PRRT1 NELFE NCR3 SNORD52 SNORD84 RNF5 MSH5-SAPCD1 HLA-B LOC102725068 PRRC2A AIF1 SNORD48 AGPAT1
esv32938 Chr.6:31996100 - 32006286 on Build GRCh38 Gain C4A CYP21A1P
esv3890827 Chr.6:31981575 - 32043703 on Build GRCh38 Gain+Loss C4B CYP21A2 C4A TNXB TNXA CYP21A1P
nsv5247 Chr.6:31957962 - 32055439 on Build GRCh38 Deletion C4B CYP21A2 NELFE SKIV2L DXO C4A TNXB TNXA CYP21A1P STK19
esv3333985 Chr.6:31990996 - 32007795 on Build GRCh38 Duplication C4A CYP21A1P
nsv601971 Chr.6:31971488 - 32046679 on Build GRCh38 Gain C4B CYP21A2 DXO C4A TNXB TNXA CYP21A1P STK19
esv2759415 Chr.6:31903735 - 32241336 on Build GRCh38 Gain+Loss PPT2-EGFL8 GPSM3 C2-AS1 SKIV2L DXO C4A CYP21A1P PBX2 STK19 C4B LOC100507547 ATF6B MIR6833 PPT2 TNXB NOTCH4 AGER EGFL8 MIR1236 MIR6721 CYP21A2 PRRT1 NELFE RNF5 TNXA CFB FKBPL C2 AGPAT1
nsv602034 Chr.6:31991487 - 32002199 on Build GRCh38 Loss C4A
nsv601991 Chr.6:31984179 - 32005239 on Build GRCh38 Loss C4A
dgv10403n54 Chr.6:31312324 - 32049763 on Build GRCh38 Loss LTA C2-AS1 SAPCD1 ATP6V1G2 NFKBIL1 DXO SNORA38 HCG26 VARS DDAH2 MSH5 C4B LST1 LOC100287329 ZBTB12 DDX39B-AS1 C6orf48 DDX39B HSPA1B MICB MIR1236 C6orf25 HCP5 LY6G5B C6orf47 EHMT2 GPANK1 CLIC1 TNXA CFB LY6G5C SAPCD1-AS1 C2 BAG6 VWA7 MIR6891 SKIV2L C4A LY6G6D ATP6V1G2-DDX39B HSPA1L MIR4646 CYP21A1P MIR6832 STK19 ABHD16A SNORD117 LY6G6C LY6G6E LTB APOM LY6G6F LSM2 TNF MICA SLC44A4 TNXB HSPA1A CSNK2B NEU1 MCCD1 CYP21A2 NELFE NCR3 SNORD52 SNORD84 MSH5-SAPCD1 HLA-B LOC102725068 PRRC2A AIF1 SNORD48
nsv10824 Chr.6:31980357 - 32046247 on Build GRCh38 Gain+Loss C4B CYP21A2 C4A TNXB TNXA CYP21A1P STK19
dgv20n31 Chr.6:31990245 - 32046126 on Build GRCh38 Gain C4B CYP21A2 C4A TNXB TNXA CYP21A1P
esv3890825 Chr.6:31983430 - 32013259 on Build GRCh38 Loss C4A TNXA CYP21A1P
dgv10466n54 Chr.6:31980320 - 32029165 on Build GRCh38 Loss C4B C4A TNXA CYP21A1P STK19
esv28110 Chr.6:31980130 - 32048749 on Build GRCh38 Gain+Loss C4B CYP21A2 C4A TNXB TNXA CYP21A1P STK19
dgv10472n54 Chr.6:31985690 - 32812026 on Build GRCh38 Loss MIR3135B PPT2-EGFL8 GPSM3 HCG23 C4A CYP21A1P PBX2 HLA-DRB5 C4B HLA-DRB6 BTNL2 C6orf10 HLA-DQB2 LOC100507547 ATF6B HLA-DQB1-AS1 MIR6833 PPT2 HLA-DQA1 HLA-DQA2 TNXB HLA-DRA NOTCH4 AGER EGFL8 LOC101929163 MIR6721 CYP21A2 PRRT1 RNF5 HLA-DRB1 TNXA HLA-DQB1 FKBPL AGPAT1
dgv10463n54 Chr.6:31817661 - 32683279 on Build GRCh38 Loss PPT2-EGFL8 C2-AS1 HCG23 DXO PBX2 C4B C6orf10 ZBTB12 HLA-DQB1-AS1 C6orf48 HSPA1B HLA-DQA1 EGFL8 LOC101929163 MIR1236 MIR6721 EHMT2 HLA-DRB1 TNXA CFB FKBPL C2 GPSM3 SKIV2L C4A CYP21A1P STK19 HLA-DRB5 HLA-DRB6 BTNL2 LOC100507547 ATF6B MIR6833 SLC44A4 PPT2 TNXB HLA-DRA NOTCH4 HSPA1A AGER NEU1 CYP21A2 PRRT1 NELFE SNORD52 RNF5 HLA-DQB1 SNORD48 AGPAT1
nsv1126749 Chr.6:31457323 - 32594423 on Build GRCh38 Deletion LTA PPT2-EGFL8 C2-AS1 HCG23 SAPCD1 ATP6V1G2 NFKBIL1 DXO SNORA38 HCG26 VARS DDAH2 MSH5 PBX2 C4B LST1 LOC100287329 C6orf10 ZBTB12 DDX39B-AS1 C6orf48 DDX39B HSPA1B MICB EGFL8 LOC101929163 MIR1236 C6orf25 MIR6721 HCP5 LY6G5B C6orf47 EHMT2 GPANK1 HLA-DRB1 CLIC1 TNXA CFB LY6G5C SAPCD1-AS1 FKBPL C2 BAG6 VWA7 GPSM3 SKIV2L C4A LY6G6D ATP6V1G2-DDX39B HSPA1L MIR4646 CYP21A1P MIR6832 STK19 HLA-DRB5 ABHD16A HLA-DRB6 SNORD117 LY6G6C BTNL2 LY6G6E LOC100507547 LTB ATF6B APOM LY6G6F LSM2 TNF MIR6833 SLC44A4 PPT2 TNXB HLA-DRA NOTCH4 HSPA1A AGER CSNK2B NEU1 MCCD1 CYP21A2 PRRT1 NELFE NCR3 SNORD52 SNORD84 RNF5 MSH5-SAPCD1 LOC102725068 PRRC2A AIF1 SNORD48 AGPAT1
nsv1073969 Chr.6:31456422 - 33480523 on Build GRCh38 Deletion PHF1 HCG23 HLA-DPB1 KIFC1 BRD2 HCG26 VARS PBX2 C4B LOC100287329 C6orf10 ZBTB12 HLA-DPA1 DDX39B-AS1 MIR5004 C6orf48 HLA-DQA1 MICB EGFL8 MIR6721 HCP5 ZBTB22 VPS52 C6orf47 EHMT2 HLA-DOB GPANK1 HLA-DRB1 CLIC1 CFB FKBPL C2 BAG6 MIR219A1 VWA7 GPSM3 SKIV2L LY6G6D HSPA1L MIR4646 MIR6832 PSMB8-AS1 HLA-DRB5 HLA-DRB6 SNORD117 LY6G6C BTNL2 LOC100507547 APOM LY6G6F HLA-DMB LSM2 TNF MIR6833 SLC44A4 SLC39A7 PPT2 HLA-DQA2 TNXB HLA-DRA PFDN6 AGER CSNK2B SYNGAP1 MIR6834 MCCD1 CYP21A2 PRRT1 NELFE SNORD52 SNORD84 MSH5-SAPCD1 HLA-DQB1 LOC102725068 AIF1 AGPAT1 LTA PPT2-EGFL8 C2-AS1 SAPCD1 ATP6V1G2 NFKBIL1 HSD17B8 DXO SNORA38 PSMB8 DDAH2 MSH5 RGL2 LST1 LOC100294145 RXRB COL11A2 HLA-DQB1-AS1 RPS18 PPP1R2P1 DDX39B HSPA1B TAP2 HCG24 HCG25 LOC101929163 MIR1236 C6orf25 LY6G5B DAXX TNXA LY6G5C SAPCD1-AS1 TAP1 MIR3135B HLA-DPB2 TAPBP ZBTB9 B3GALT4 C4A ATP6V1G2-DDX39B CYP21A1P STK19 ABHD16A LY6G6E HLA-DQB2 LTB ATF6B MIR6873 RING1 NOTCH4 HSPA1A NEU1 PSMB9 NCR3 RNF5 HLA-DOA WDR46 HLA-DMA PRRC2A CUTA SNORD48
nsv819957 Chr.6:31988273 - 32033484 on Build GRCh38 Loss C4B C4A TNXA CYP21A1P
nsv981129 Chr.6:31980992 - 32057861 on Build GRCh38 Duplication C4B CYP21A2 C4A TNXB TNXA CYP21A1P STK19
nsv823506 Chr.6:31995856 - 32006489 on Build GRCh38 Loss C4A CYP21A1P

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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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