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See other C4B CNV Assays ›
Gene Symbol
C4B
Assay Reference Genome
Location

Chr.6:32028826 on build GRCh38
Cytoband
6p21.33
Assay ID Hs07226350_cn
Size
Availability Made To Order
Catalog # 4400291
Price 4,496.00
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4496.0
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Assay Details

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:

 Overlaps Exon 26 - Intron 26
Gene Symbol Transcript Accession Exon Location Assay Transcript Location Protein ID
C4B NM_001002029.3 NP_001002029.3
AK304564.1
K02404.1 AAA59651.1

Target Copy Number Variation Details

DGV Version:

 Release date: 2016-05-15, GRCh GRCh38
Target
Variation		 Location CNV
Subtype		 Genes
nsv602045 Chr.6:31996469 - 32046679 on Build GRCh38 Gain C4B CYP21A1P CYP21A2 TNXB TNXA C4A
nsv602095 Chr.6:32023916 - 32038826 on Build GRCh38 Loss C4B CYP21A2
nsv471443 Chr.6:32014795 - 32035417 on Build GRCh38 Gain C4B
nsv1112900 Chr.6:31455323 - 33480423 on Build GRCh38 Deletion DDX39B-AS1 PPT2-EGFL8 CUTA FKBPL RNF5 ATF6B HSD17B8 RPS18 HLA-DRB6 CSNK2B HSPA1A HLA-DPB1 VARS MICB TAP2 SKIV2L SAPCD1-AS1 NOTCH4 MIR6834 LSM2 LY6G6C NCR3 LOC101929163 DDX39B PPP1R2P1 PBX2 C6orf48 SNORD84 HCG24 LOC100294145 HSPA1L HLA-DQA2 HCP5 PSMB9 RGL2 BTNL2 HLA-DRB5 NEU1 HSPA1B MIR6873 DXO SNORD48 TNXA LOC100287329 MIR219A1 B3GALT4 VPS52 LST1 C6orf25 PRRC2A SAPCD1 LOC102725068 ATP6V1G2-DDX39B HLA-DRB1 SNORD52 CFB SNORA38 NELFE SLC39A7 TNXB C4A MIR4646 HLA-DPB2 LY6G5C DAXX MIR6721 C6orf10 LY6G6D LY6G5B PSMB8-AS1 ZBTB9 HLA-DRA C6orf47 ABHD16A LTA KIFC1 BAG6 SYNGAP1 TNF COL11A2 HCG26 TAP1 HLA-DOB SNORD117 AGPAT1 RING1 PSMB8 LTB LY6G6E APOM VWA7 C4B HLA-DQB1-AS1 AGER PHF1 HLA-DMA C2-AS1 CLIC1 STK19 MCCD1 MIR5004 MSH5 CYP21A2 C2 PFDN6 MIR1236 HCG25 LY6G6F NFKBIL1 HLA-DOA ZBTB12 MSH5-SAPCD1 HCG23 SLC44A4 LOC100507547 PRRT1 MIR6832 DDAH2 BRD2 ZBTB22 HLA-DQA1 MIR6833 GPSM3 EGFL8 MIR3135B EHMT2 AIF1 HLA-DQB2 CYP21A1P HLA-DMB PPT2 WDR46 TAPBP GPANK1 RXRB HLA-DPA1 HLA-DQB1 ATP6V1G2
dgv10404n54 Chr.6:31312550 - 32516591 on Build GRCh38 Loss MIR6721 C6orf10 DDX39B-AS1 LY6G6D LY6G5B PPT2-EGFL8 HLA-DRA FKBPL RNF5 C6orf47 ABHD16A LTA ATF6B BAG6 TNF CSNK2B HSPA1A HCG26 VARS MICB MICA SNORD117 SKIV2L SAPCD1-AS1 NOTCH4 AGPAT1 LTB LY6G6E APOM VWA7 LSM2 LY6G6C NCR3 C4B LOC101929163 AGER DDX39B PBX2 C6orf48 C2-AS1 SNORD84 HSPA1L HCP5 CLIC1 STK19 MCCD1 BTNL2 MSH5 CYP21A2 NEU1 HSPA1B C2 DXO MIR1236 SNORD48 LY6G6F TNXA LOC100287329 NFKBIL1 HLA-B ZBTB12 MSH5-SAPCD1 LST1 MIR6891 HCG23 SLC44A4 LOC100507547 PRRT1 C6orf25 MIR6832 DDAH2 PRRC2A SAPCD1 LOC102725068 ATP6V1G2-DDX39B SNORD52 MIR6833 CFB GPSM3 SNORA38 NELFE TNXB EGFL8 C4A EHMT2 AIF1 CYP21A1P MIR4646 PPT2 GPANK1 LY6G5C ATP6V1G2
esv3890827 Chr.6:31981575 - 32043703 on Build GRCh38 Gain+Loss C4B CYP21A1P CYP21A2 TNXB TNXA C4A
nsv5247 Chr.6:31957962 - 32055439 on Build GRCh38 Deletion SKIV2L C4B CYP21A1P CYP21A2 DXO NELFE TNXB TNXA C4A STK19
nsv601971 Chr.6:31971488 - 32046679 on Build GRCh38 Gain C4B CYP21A1P CYP21A2 DXO TNXB TNXA C4A STK19
esv2759415 Chr.6:31903735 - 32241336 on Build GRCh38 Gain+Loss MIR6721 CYP21A2 C2 DXO MIR1236 TNXA PPT2-EGFL8 FKBPL RNF5 ATF6B LOC100507547 PRRT1 SKIV2L MIR6833 NOTCH4 CFB GPSM3 AGPAT1 NELFE TNXB EGFL8 C4A C4B AGER CYP21A1P PBX2 C2-AS1 PPT2 STK19
esv2731825 Chr.6:32011073 - 32044089 on Build GRCh38 Deletion C4B CYP21A2 TNXB TNXA
dgv10403n54 Chr.6:31312324 - 32049763 on Build GRCh38 Loss DDX39B-AS1 LY6G6D LY6G5B C6orf47 ABHD16A LTA BAG6 TNF CSNK2B HSPA1A HCG26 VARS MICB MICA SNORD117 SKIV2L SAPCD1-AS1 LTB LY6G6E APOM VWA7 LSM2 LY6G6C NCR3 C4B DDX39B C6orf48 C2-AS1 SNORD84 HSPA1L HCP5 CLIC1 STK19 MCCD1 MSH5 CYP21A2 NEU1 HSPA1B C2 DXO MIR1236 SNORD48 LY6G6F TNXA LOC100287329 NFKBIL1 HLA-B ZBTB12 MSH5-SAPCD1 LST1 MIR6891 SLC44A4 C6orf25 MIR6832 DDAH2 PRRC2A SAPCD1 LOC102725068 ATP6V1G2-DDX39B SNORD52 CFB SNORA38 NELFE TNXB C4A EHMT2 AIF1 CYP21A1P MIR4646 GPANK1 LY6G5C ATP6V1G2
dgv10476n54 Chr.6:32004593 - 32029276 on Build GRCh38 Loss C4B CYP21A1P TNXA
nsv433379 Chr.6:32026664 - 32040088 on Build GRCh38 Gain C4B CYP21A2
nsv10824 Chr.6:31980357 - 32046247 on Build GRCh38 Gain+Loss C4B CYP21A1P CYP21A2 TNXB TNXA C4A STK19
nsv602072 Chr.6:32011830 - 32037490 on Build GRCh38 Loss C4B TNXA
nsv823508 Chr.6:32006063 - 32029010 on Build GRCh38 Gain C4B CYP21A1P TNXA
dgv10477n54 Chr.6:32005403 - 32042485 on Build GRCh38 Loss C4B CYP21A1P CYP21A2 TNXB TNXA
dgv20n31 Chr.6:31990245 - 32046126 on Build GRCh38 Gain C4B CYP21A1P CYP21A2 TNXB TNXA C4A
nsv950155 Chr.6:32005124 - 32037723 on Build GRCh38 Deletion C4B CYP21A1P TNXA
dgv10468n54 Chr.6:31983430 - 32045574 on Build GRCh38 Loss C4B CYP21A1P CYP21A2 TNXB TNXA C4A
nsv5248 Chr.6:32028238 - 32051635 on Build GRCh38 Insertion C4B CYP21A2 TNXB
nsv285 Chr.6:32009269 - 32055439 on Build GRCh38 Deletion C4B CYP21A2 TNXB TNXA
esv3358357 Chr.6:32026297 - 32029195 on Build GRCh38 Duplication C4B
esv3334092 Chr.6:32023797 - 32029195 on Build GRCh38 Duplication C4B
dgv10466n54 Chr.6:31980320 - 32029165 on Build GRCh38 Loss C4B CYP21A1P TNXA C4A STK19
esv28110 Chr.6:31980130 - 32048749 on Build GRCh38 Gain+Loss C4B CYP21A1P CYP21A2 TNXB TNXA C4A STK19
dgv10472n54 Chr.6:31985690 - 32812026 on Build GRCh38 Loss MIR6721 C6orf10 BTNL2 HLA-DRB5 CYP21A2 TNXA PPT2-EGFL8 HLA-DRA FKBPL RNF5 ATF6B HLA-DRB6 HCG23 LOC100507547 PRRT1 HLA-DRB1 HLA-DQA1 MIR6833 NOTCH4 GPSM3 AGPAT1 TNXB EGFL8 MIR3135B C4A C4B HLA-DQB1-AS1 LOC101929163 AGER HLA-DQB2 CYP21A1P PBX2 PPT2 HLA-DQA2 HLA-DQB1
dgv10463n54 Chr.6:31817661 - 32683279 on Build GRCh38 Loss MIR6721 C6orf10 PPT2-EGFL8 HLA-DRA FKBPL RNF5 ATF6B HLA-DRB6 HSPA1A SKIV2L NOTCH4 AGPAT1 C4B HLA-DQB1-AS1 LOC101929163 AGER PBX2 C6orf48 C2-AS1 STK19 BTNL2 HLA-DRB5 CYP21A2 NEU1 HSPA1B C2 DXO MIR1236 SNORD48 TNXA ZBTB12 HCG23 SLC44A4 LOC100507547 PRRT1 HLA-DRB1 SNORD52 HLA-DQA1 MIR6833 CFB GPSM3 NELFE TNXB EGFL8 C4A EHMT2 CYP21A1P PPT2 HLA-DQB1
nsv1126749 Chr.6:31457323 - 32594423 on Build GRCh38 Deletion MIR6721 C6orf10 DDX39B-AS1 LY6G6D LY6G5B PPT2-EGFL8 HLA-DRA FKBPL RNF5 C6orf47 ABHD16A LTA ATF6B HLA-DRB6 BAG6 TNF CSNK2B HSPA1A HCG26 VARS MICB SNORD117 SKIV2L SAPCD1-AS1 NOTCH4 AGPAT1 LTB LY6G6E APOM VWA7 LSM2 LY6G6C NCR3 C4B LOC101929163 AGER DDX39B PBX2 C6orf48 C2-AS1 SNORD84 HSPA1L HCP5 CLIC1 STK19 MCCD1 BTNL2 MSH5 HLA-DRB5 CYP21A2 NEU1 HSPA1B C2 DXO MIR1236 SNORD48 LY6G6F TNXA LOC100287329 NFKBIL1 ZBTB12 MSH5-SAPCD1 LST1 HCG23 SLC44A4 LOC100507547 PRRT1 C6orf25 MIR6832 DDAH2 PRRC2A SAPCD1 LOC102725068 ATP6V1G2-DDX39B HLA-DRB1 SNORD52 MIR6833 CFB GPSM3 SNORA38 NELFE TNXB EGFL8 C4A EHMT2 AIF1 CYP21A1P MIR4646 PPT2 GPANK1 LY6G5C ATP6V1G2
dgv10481n54 Chr.6:32017441 - 32029165 on Build GRCh38 Loss C4B
nsv1073969 Chr.6:31456422 - 33480523 on Build GRCh38 Deletion DDX39B-AS1 PPT2-EGFL8 CUTA FKBPL RNF5 ATF6B HSD17B8 RPS18 HLA-DRB6 CSNK2B HSPA1A HLA-DPB1 VARS MICB TAP2 SKIV2L SAPCD1-AS1 NOTCH4 MIR6834 LSM2 LY6G6C NCR3 LOC101929163 DDX39B PPP1R2P1 PBX2 C6orf48 SNORD84 HCG24 LOC100294145 HSPA1L HLA-DQA2 HCP5 PSMB9 RGL2 BTNL2 HLA-DRB5 NEU1 HSPA1B MIR6873 DXO SNORD48 TNXA LOC100287329 MIR219A1 B3GALT4 VPS52 LST1 C6orf25 PRRC2A SAPCD1 LOC102725068 ATP6V1G2-DDX39B HLA-DRB1 SNORD52 CFB SNORA38 NELFE SLC39A7 TNXB C4A MIR4646 HLA-DPB2 LY6G5C DAXX MIR6721 C6orf10 LY6G6D LY6G5B PSMB8-AS1 ZBTB9 HLA-DRA C6orf47 ABHD16A LTA KIFC1 BAG6 SYNGAP1 TNF COL11A2 HCG26 TAP1 HLA-DOB SNORD117 AGPAT1 RING1 PSMB8 LTB LY6G6E APOM VWA7 C4B HLA-DQB1-AS1 AGER PHF1 HLA-DMA C2-AS1 CLIC1 STK19 MCCD1 MIR5004 MSH5 CYP21A2 C2 PFDN6 MIR1236 HCG25 LY6G6F NFKBIL1 HLA-DOA ZBTB12 MSH5-SAPCD1 HCG23 SLC44A4 LOC100507547 PRRT1 MIR6832 DDAH2 BRD2 ZBTB22 HLA-DQA1 MIR6833 GPSM3 EGFL8 MIR3135B EHMT2 AIF1 HLA-DQB2 CYP21A1P HLA-DMB PPT2 WDR46 TAPBP GPANK1 RXRB HLA-DPA1 HLA-DQB1 ATP6V1G2
dgv10484n54 Chr.6:32020248 - 32029164 on Build GRCh38 Loss C4B
nsv819957 Chr.6:31988273 - 32033484 on Build GRCh38 Loss C4B CYP21A1P TNXA C4A
nsv981129 Chr.6:31980992 - 32057861 on Build GRCh38 Duplication C4B CYP21A1P CYP21A2 TNXB TNXA C4A STK19
nsv823507 Chr.6:31995856 - 32028806 on Build GRCh38 Loss C4B CYP21A1P TNXA C4A
nsv602074 Chr.6:32017378 - 32033945 on Build GRCh38 Loss C4B

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More Information


Important Information

The Hs07226350_cn assay specifically detects the C4B gene, a member of the C4 gene family which contains genes encoding functionally distinct C4A and C4B protein isoforms. Assay Hs07226349_cn is available to detect the C4A 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.
Hs07226349_cn assay for C4A 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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