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

Chr.6:31984640 on build GRCh38
Cytoband
6p21.33
Assay ID Hs07226352_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:

 Within Intron 9
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
AK293364.1
BC063289.1 AAH63289.1
BC144546.1
BC146673.1
BC146849.1
BC151204.1
BC171786.1
BX452374.2
K02403.1 AAB59537.1

Target Gene Details

Entrez Gene ID:

 721

Gene Name:

 complement component 4B (Chido blood group)

Gene Aliases:

 C4B1, C4B12, C4B2, C4B3, C4B5, C4BD, C4B_2, C4F, CH, CO4, CPAMD3

Location:

 Chr.6:32014795-32035418 on Build GRCh38

Assay Gene Location:

 Within Intron 20
Gene Symbol Transcript Accession Exon Location Assay Transcript Location Protein ID
C4B NM_001002029.3 NP_001002029.3
AK304564.1
CD624022.1
DA395398.1
K02404.1 AAA59651.1

Target Copy Number Variation Details

DGV Version:

 Release date: 2016-05-15, GRCh GRCh38
Target
Variation		 Location CNV
Subtype		 Genes
dgv10478n54 Chr.6:32008352 - 32022321 on Build GRCh38 Loss CYP21A1P TNXA C4B
nsv602045 Chr.6:31996469 - 32046679 on Build GRCh38 Gain CYP21A1P TNXB C4A TNXA C4B CYP21A2
nsv1112900 Chr.6:31455323 - 33480423 on Build GRCh38 Deletion MIR6834 HCP5 HCG23 GPANK1 GPSM3 TNF PPP1R2P1 LY6G5C HLA-DPB2 HLA-DQB1 DAXX BAG6 SNORD117 HLA-DMA SAPCD1 HLA-DRB6 MIR5004 HLA-DPA1 SYNGAP1 LY6G6D PSMB8 LY6G6F HCG26 LOC100507547 ATP6V1G2 LOC100287329 HLA-DOA HSPA1L ZBTB12 MICB WDR46 DXO HLA-DOB SNORD84 CSNK2B C6orf25 MIR219A1 RGL2 C2-AS1 CYP21A1P SLC39A7 HCG24 BTNL2 HSPA1B LOC100294145 C6orf10 PRRC2A CLIC1 STK19 LOC101929163 ZBTB9 MSH5-SAPCD1 MIR4646 VWA7 ABHD16A FKBPL NFKBIL1 DDX39B PRRT1 MIR6833 VARS APOM RPS18 ATF6B SLC44A4 LST1 NCR3 SNORD52 AGER C4B NELFE MIR6873 NEU1 KIFC1 RNF5 HSD17B8 HLA-DQB1-AS1 COL11A2 LY6G6E HCG25 LSM2 C4A SNORD48 AIF1 PPT2-EGFL8 HLA-DPB1 RXRB SKIV2L TAPBP MCCD1 PPT2 B3GALT4 AGPAT1 HLA-DQA1 PBX2 RING1 NOTCH4 DDX39B-AS1 PFDN6 HLA-DQA2 C6orf48 MSH5 TNXB LOC102725068 TAP2 HLA-DRB1 CFB LTB ATP6V1G2-DDX39B HLA-DQB2 SAPCD1-AS1 MIR6721 TNXA C2 MIR6832 BRD2 ZBTB22 HLA-DRB5 VPS52 TAP1 EHMT2 HSPA1A EGFL8 PSMB9 CYP21A2 PHF1 HLA-DRA CUTA HLA-DMB LY6G6C PSMB8-AS1 MIR1236 SNORA38 MIR3135B LY6G5B DDAH2 C6orf47 LTA
nsv471443 Chr.6:32014795 - 32035417 on Build GRCh38 Gain C4B
dgv10404n54 Chr.6:31312550 - 32516591 on Build GRCh38 Loss HLA-B HCP5 LY6G6E HCG23 GPANK1 LSM2 GPSM3 TNF C4A SNORD48 LY6G5C BAG6 SNORD117 AIF1 PPT2-EGFL8 SKIV2L SAPCD1 MCCD1 PPT2 AGPAT1 LY6G6D PBX2 LY6G6F NOTCH4 HCG26 LOC100507547 ATP6V1G2 LOC100287329 DDX39B-AS1 C6orf48 MSH5 TNXB LOC102725068 HSPA1L ZBTB12 MICB DXO SNORD84 CFB CSNK2B LTB C6orf25 ATP6V1G2-DDX39B C2-AS1 CYP21A1P SAPCD1-AS1 BTNL2 MIR6721 HSPA1B C6orf10 PRRC2A CLIC1 TNXA C2 STK19 LOC101929163 MSH5-SAPCD1 MIR6891 MIR6832 MICA MIR4646 VWA7 ABHD16A FKBPL EHMT2 NFKBIL1 HSPA1A DDX39B PRRT1 MIR6833 EGFL8 VARS APOM CYP21A2 ATF6B SLC44A4 HLA-DRA LST1 NCR3 SNORD52 AGER C4B LY6G6C NELFE MIR1236 SNORA38 NEU1 RNF5 LY6G5B DDAH2 C6orf47 LTA
esv3890827 Chr.6:31981575 - 32043703 on Build GRCh38 Gain+Loss CYP21A1P TNXB C4A TNXA C4B CYP21A2
nsv284 Chr.6:31957962 - 32028944 on Build GRCh38 Deletion STK19 SKIV2L CYP21A1P NELFE C4A DXO TNXA C4B
nsv601971 Chr.6:31971488 - 32046679 on Build GRCh38 Gain STK19 CYP21A1P TNXB C4A DXO TNXA C4B CYP21A2
nsv428141 Chr.6:31903735 - 32125066 on Build GRCh38 Gain+Loss STK19 ATF6B TNXB C4A DXO CFB C4B SKIV2L C2-AS1 CYP21A1P NELFE MIR1236 TNXA C2 CYP21A2
esv2731825 Chr.6:32011073 - 32044089 on Build GRCh38 Deletion TNXB TNXA C4B CYP21A2
dgv10403n54 Chr.6:31312324 - 32049763 on Build GRCh38 Loss HLA-B HCP5 LY6G6E GPANK1 LSM2 TNF C4A SNORD48 LY6G5C BAG6 SNORD117 AIF1 SKIV2L SAPCD1 MCCD1 LY6G6D LY6G6F HCG26 ATP6V1G2 LOC100287329 DDX39B-AS1 C6orf48 MSH5 TNXB LOC102725068 HSPA1L ZBTB12 MICB DXO SNORD84 CFB CSNK2B LTB C6orf25 ATP6V1G2-DDX39B C2-AS1 CYP21A1P SAPCD1-AS1 HSPA1B PRRC2A CLIC1 TNXA C2 STK19 MSH5-SAPCD1 MIR6891 MIR6832 MICA MIR4646 VWA7 ABHD16A EHMT2 NFKBIL1 HSPA1A DDX39B VARS APOM CYP21A2 SLC44A4 LST1 NCR3 SNORD52 C4B LY6G6C NELFE MIR1236 SNORA38 NEU1 LY6G5B DDAH2 C6orf47 LTA
nsv602050 Chr.6:31996807 - 32017441 on Build GRCh38 Loss CYP21A1P C4A TNXA C4B
dgv10476n54 Chr.6:32004593 - 32029276 on Build GRCh38 Loss CYP21A1P TNXA C4B
nsv10824 Chr.6:31980357 - 32046247 on Build GRCh38 Gain+Loss STK19 CYP21A1P TNXB C4A TNXA C4B CYP21A2
nsv823508 Chr.6:32006063 - 32029010 on Build GRCh38 Gain CYP21A1P TNXA C4B
nsv602072 Chr.6:32011830 - 32037490 on Build GRCh38 Loss TNXA C4B
esv3413736 Chr.6:32008397 - 32017395 on Build GRCh38 Duplication CYP21A1P TNXA C4B
dgv10477n54 Chr.6:32005403 - 32042485 on Build GRCh38 Loss CYP21A1P TNXB TNXA C4B CYP21A2
nsv602073 Chr.6:32014996 - 32023513 on Build GRCh38 Loss C4B
dgv20n31 Chr.6:31990245 - 32046126 on Build GRCh38 Gain CYP21A1P TNXB C4A TNXA C4B CYP21A2
nsv950155 Chr.6:32005124 - 32037723 on Build GRCh38 Deletion CYP21A1P TNXA C4B
dgv10468n54 Chr.6:31983430 - 32045574 on Build GRCh38 Loss CYP21A1P TNXB C4A TNXA C4B CYP21A2
nsv511870 Chr.6:32016002 - 32023803 on Build GRCh38 Loss C4B
nsv285 Chr.6:32009269 - 32055439 on Build GRCh38 Deletion TNXB TNXA C4B CYP21A2
esv28110 Chr.6:31980130 - 32048749 on Build GRCh38 Gain+Loss STK19 CYP21A1P TNXB C4A TNXA C4B CYP21A2
dgv10466n54 Chr.6:31980320 - 32029165 on Build GRCh38 Loss STK19 CYP21A1P C4A TNXA C4B
dgv3475e59 Chr.6:32013297 - 32017395 on Build GRCh38 Duplication C4B
dgv10463n54 Chr.6:31817661 - 32683279 on Build GRCh38 Loss HCG23 GPSM3 C4A SNORD48 HLA-DQB1 PPT2-EGFL8 SKIV2L HLA-DRB6 PPT2 AGPAT1 HLA-DQA1 PBX2 NOTCH4 LOC100507547 C6orf48 TNXB ZBTB12 DXO HLA-DRB1 CFB C2-AS1 CYP21A1P BTNL2 MIR6721 HSPA1B C6orf10 TNXA C2 STK19 LOC101929163 HLA-DRB5 FKBPL EHMT2 HSPA1A PRRT1 MIR6833 EGFL8 CYP21A2 ATF6B SLC44A4 HLA-DRA SNORD52 AGER C4B NELFE MIR1236 NEU1 RNF5 HLA-DQB1-AS1
dgv10472n54 Chr.6:31985690 - 32812026 on Build GRCh38 Loss LOC101929163 HCG23 GPSM3 C4A HLA-DQB1 HLA-DRB5 FKBPL PPT2-EGFL8 HLA-DRB6 PPT2 PRRT1 AGPAT1 MIR6833 HLA-DQA1 PBX2 EGFL8 NOTCH4 LOC100507547 CYP21A2 ATF6B HLA-DQA2 TNXB HLA-DRA HLA-DRB1 AGER C4B HLA-DQB2 CYP21A1P BTNL2 MIR3135B MIR6721 C6orf10 RNF5 HLA-DQB1-AS1 TNXA
nsv1126749 Chr.6:31457323 - 32594423 on Build GRCh38 Deletion HCP5 LY6G6E HCG23 GPANK1 LSM2 GPSM3 TNF C4A SNORD48 LY6G5C BAG6 SNORD117 AIF1 PPT2-EGFL8 SKIV2L SAPCD1 MCCD1 HLA-DRB6 PPT2 AGPAT1 LY6G6D PBX2 LY6G6F NOTCH4 HCG26 LOC100507547 ATP6V1G2 LOC100287329 DDX39B-AS1 C6orf48 MSH5 TNXB LOC102725068 HSPA1L ZBTB12 MICB DXO HLA-DRB1 SNORD84 CFB CSNK2B LTB C6orf25 ATP6V1G2-DDX39B C2-AS1 CYP21A1P SAPCD1-AS1 BTNL2 MIR6721 HSPA1B C6orf10 PRRC2A CLIC1 TNXA C2 STK19 LOC101929163 MSH5-SAPCD1 MIR6832 MIR4646 VWA7 ABHD16A HLA-DRB5 FKBPL EHMT2 NFKBIL1 HSPA1A DDX39B PRRT1 MIR6833 EGFL8 VARS APOM CYP21A2 ATF6B SLC44A4 HLA-DRA LST1 NCR3 SNORD52 AGER C4B LY6G6C NELFE MIR1236 SNORA38 NEU1 RNF5 LY6G5B DDAH2 C6orf47 LTA
nsv1073969 Chr.6:31456422 - 33480523 on Build GRCh38 Deletion MIR6834 HCP5 HCG23 GPANK1 GPSM3 TNF PPP1R2P1 LY6G5C HLA-DPB2 HLA-DQB1 DAXX BAG6 SNORD117 HLA-DMA SAPCD1 HLA-DRB6 MIR5004 HLA-DPA1 SYNGAP1 LY6G6D PSMB8 LY6G6F HCG26 LOC100507547 ATP6V1G2 LOC100287329 HLA-DOA HSPA1L ZBTB12 MICB WDR46 DXO HLA-DOB SNORD84 CSNK2B C6orf25 MIR219A1 RGL2 C2-AS1 CYP21A1P SLC39A7 HCG24 BTNL2 HSPA1B LOC100294145 C6orf10 PRRC2A CLIC1 STK19 LOC101929163 ZBTB9 MSH5-SAPCD1 MIR4646 VWA7 ABHD16A FKBPL NFKBIL1 DDX39B PRRT1 MIR6833 VARS APOM RPS18 ATF6B SLC44A4 LST1 NCR3 SNORD52 AGER C4B NELFE MIR6873 NEU1 KIFC1 RNF5 HSD17B8 HLA-DQB1-AS1 COL11A2 LY6G6E HCG25 LSM2 C4A SNORD48 AIF1 PPT2-EGFL8 HLA-DPB1 RXRB SKIV2L TAPBP MCCD1 PPT2 B3GALT4 AGPAT1 HLA-DQA1 PBX2 RING1 NOTCH4 DDX39B-AS1 PFDN6 HLA-DQA2 C6orf48 MSH5 TNXB LOC102725068 TAP2 HLA-DRB1 CFB LTB ATP6V1G2-DDX39B HLA-DQB2 SAPCD1-AS1 MIR6721 TNXA C2 MIR6832 BRD2 ZBTB22 HLA-DRB5 VPS52 TAP1 EHMT2 HSPA1A EGFL8 PSMB9 CYP21A2 PHF1 HLA-DRA CUTA HLA-DMB LY6G6C PSMB8-AS1 MIR1236 SNORA38 MIR3135B LY6G5B DDAH2 C6orf47 LTA
nsv602075 Chr.6:32017441 - 32021501 on Build GRCh38 Loss C4B
nsv819957 Chr.6:31988273 - 32033484 on Build GRCh38 Loss CYP21A1P C4A TNXA C4B
nsv981129 Chr.6:31980992 - 32057861 on Build GRCh38 Duplication STK19 CYP21A1P TNXB C4A TNXA C4B CYP21A2
nsv823507 Chr.6:31995856 - 32028806 on Build GRCh38 Loss CYP21A1P C4A TNXA C4B
nsv602074 Chr.6:32017378 - 32033945 on Build GRCh38 Loss C4B
nsv499146 Chr.6:32017421 - 32023797 on Build GRCh38 Loss C4B

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More Information


Important Information

The Hs07226352_cn assay specifically detects the long form (aka C4L) of the C4 gene family members, C4A and C4B, which encode functionally distinct protein isoforms. 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 Hs07226351_cn detects the short form (aka C4S) of the C4 genes. Assays are also available that specifically detect each C4 isoform: assay Hs07226349_cn detects the C4A gene and assay Hs07226350_cn detects the C4B gene. 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.
Hs07226351_cn assay for C4 gene short form (C4S)

Additional Information:

This assay has 2 genomic targets in NCBI build GRCh38

Set Membership:

 Intragenic Intronic Non-exonic DGV Variation Validated

Panther Classification:

Molecular Function -

protease inhibitor

Gene Ontology Categories:

Function(s) Process(es)


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