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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
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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 CYP21A1P TNXB C4A CYP21A2 TNXA C4B
nsv602095 Chr.6:32023916 - 32038826 on Build GRCh38 Loss CYP21A2 C4B
nsv1112900 Chr.6:31455323 - 33480423 on Build GRCh38 Deletion LOC100287329 SKIV2L TNXB HCG23 BTNL2 ZBTB12 TNXA ABHD16A SNORA38 ATP6V1G2 C6orf25 TAP2 WDR46 TAPBP SNORD52 PHF1 HLA-DMA NELFE SLC39A7 C6orf47 LY6G5B BRD2 PSMB8-AS1 DXO HSPA1B PSMB9 HSPA1A DDAH2 SNORD117 SNORD84 HLA-DPA1 HCG24 C6orf10 LTA HCG25 HLA-DOA HLA-DQB1 ZBTB9 HCG26 MIR6834 ZBTB22 CUTA BAG6 LY6G5C PRRT1 DDX39B PPT2 SYNGAP1 AGER HCP5 CLIC1 HLA-DPB1 C4B VPS52 PPP1R2P1 C4A AIF1 CYP21A2 NCR3 EHMT2 HLA-DQA1 DDX39B-AS1 LOC102725068 HSD17B8 SAPCD1-AS1 LY6G6E HLA-DRB5 PSMB8 VARS EGFL8 MIR6721 HSPA1L CSNK2B DAXX MICB PRRC2A HLA-DPB2 SAPCD1 C6orf48 MIR6832 APOM STK19 PBX2 RNF5 TNF MIR4646 LTB HLA-DRB1 HLA-DRB6 NFKBIL1 NEU1 RGL2 VWA7 C2 NOTCH4 GPSM3 FKBPL GPANK1 LY6G6D HLA-DQA2 HLA-DRA SLC44A4 MSH5 CFB MIR6873 ATF6B ATP6V1G2-DDX39B MIR5004 HLA-DQB1-AS1 PPT2-EGFL8 HLA-DMB AGPAT1 MIR219A1 KIFC1 MIR3135B MSH5-SAPCD1 RXRB SNORD48 CYP21A1P TAP1 LY6G6C LST1 LOC100294145 RPS18 LOC101929163 B3GALT4 COL11A2 LY6G6F MIR1236 RING1 HLA-DQB2 PFDN6 C2-AS1 LOC100507547 MIR6833 LSM2 HLA-DOB MCCD1
nsv471443 Chr.6:32014795 - 32035417 on Build GRCh38 Gain C4B
dgv10404n54 Chr.6:31312550 - 32516591 on Build GRCh38 Loss LOC100287329 DDX39B-AS1 SKIV2L TNXB HCG23 BTNL2 LOC102725068 ZBTB12 TNXA ABHD16A SNORA38 SAPCD1-AS1 ATP6V1G2 C6orf25 SNORD52 LY6G6E VARS EGFL8 MIR6721 HSPA1L CSNK2B NELFE MIR6891 MICB PRRC2A SAPCD1 C6orf48 C6orf47 MIR6832 LY6G5B MICA APOM STK19 PBX2 DXO RNF5 TNF MIR4646 HSPA1B LTB HSPA1A NFKBIL1 DDAH2 NEU1 VWA7 C2 NOTCH4 SNORD117 GPSM3 FKBPL GPANK1 LY6G6D SNORD84 HLA-DRA SLC44A4 MSH5 C6orf10 CFB HLA-B LTA HCG26 ATF6B ATP6V1G2-DDX39B BAG6 LY6G5C PRRT1 PPT2-EGFL8 DDX39B AGPAT1 PPT2 AGER MSH5-SAPCD1 SNORD48 CYP21A1P LY6G6C LST1 HCP5 CLIC1 LOC101929163 C4B LY6G6F MIR1236 C4A AIF1 C2-AS1 CYP21A2 LOC100507547 MIR6833 NCR3 LSM2 EHMT2 MCCD1
esv3890827 Chr.6:31981575 - 32043703 on Build GRCh38 Gain+Loss CYP21A1P TNXB C4A CYP21A2 TNXA C4B
nsv284 Chr.6:31957962 - 32028944 on Build GRCh38 Deletion CYP21A1P SKIV2L C4A STK19 NELFE DXO TNXA C4B
nsv601971 Chr.6:31971488 - 32046679 on Build GRCh38 Gain CYP21A1P TNXB C4A CYP21A2 STK19 DXO TNXA C4B
nsv428141 Chr.6:31903735 - 32125066 on Build GRCh38 Gain+Loss CYP21A1P CFB SKIV2L TNXB STK19 DXO TNXA ATF6B C4B MIR1236 C2 C4A C2-AS1 CYP21A2 NELFE
esv2731825 Chr.6:32011073 - 32044089 on Build GRCh38 Deletion TNXB CYP21A2 TNXA C4B
dgv10403n54 Chr.6:31312324 - 32049763 on Build GRCh38 Loss LOC100287329 DDX39B-AS1 SKIV2L TNXB LOC102725068 ZBTB12 TNXA ABHD16A SNORA38 SAPCD1-AS1 ATP6V1G2 C6orf25 SNORD52 LY6G6E VARS HSPA1L CSNK2B NELFE MIR6891 MICB PRRC2A SAPCD1 C6orf48 C6orf47 MIR6832 LY6G5B MICA APOM STK19 DXO TNF MIR4646 HSPA1B LTB HSPA1A NFKBIL1 DDAH2 NEU1 VWA7 C2 SNORD117 GPANK1 LY6G6D SNORD84 SLC44A4 MSH5 CFB HLA-B LTA HCG26 ATP6V1G2-DDX39B BAG6 LY6G5C DDX39B MSH5-SAPCD1 SNORD48 CYP21A1P LY6G6C LST1 HCP5 CLIC1 C4B LY6G6F MIR1236 C4A AIF1 C2-AS1 CYP21A2 NCR3 LSM2 EHMT2 MCCD1
dgv10476n54 Chr.6:32004593 - 32029276 on Build GRCh38 Loss CYP21A1P TNXA C4B
nsv433379 Chr.6:32026664 - 32040088 on Build GRCh38 Gain CYP21A2 C4B
nsv10824 Chr.6:31980357 - 32046247 on Build GRCh38 Gain+Loss CYP21A1P TNXB C4A CYP21A2 STK19 TNXA C4B
nsv823508 Chr.6:32006063 - 32029010 on Build GRCh38 Gain CYP21A1P TNXA C4B
nsv602072 Chr.6:32011830 - 32037490 on Build GRCh38 Loss TNXA C4B
dgv10477n54 Chr.6:32005403 - 32042485 on Build GRCh38 Loss CYP21A1P TNXB CYP21A2 TNXA C4B
dgv20n31 Chr.6:31990245 - 32046126 on Build GRCh38 Gain CYP21A1P TNXB C4A CYP21A2 TNXA C4B
nsv950155 Chr.6:32005124 - 32037723 on Build GRCh38 Deletion CYP21A1P TNXA C4B
dgv10468n54 Chr.6:31983430 - 32045574 on Build GRCh38 Loss CYP21A1P TNXB C4A CYP21A2 TNXA C4B
nsv285 Chr.6:32009269 - 32055439 on Build GRCh38 Deletion TNXB CYP21A2 TNXA C4B
nsv5248 Chr.6:32028238 - 32051635 on Build GRCh38 Insertion TNXB CYP21A2 C4B
esv3334092 Chr.6:32023797 - 32029195 on Build GRCh38 Duplication C4B
esv3358357 Chr.6:32026297 - 32029195 on Build GRCh38 Duplication C4B
esv28110 Chr.6:31980130 - 32048749 on Build GRCh38 Gain+Loss CYP21A1P TNXB C4A CYP21A2 STK19 TNXA C4B
dgv10466n54 Chr.6:31980320 - 32029165 on Build GRCh38 Loss CYP21A1P C4A STK19 TNXA C4B
dgv10463n54 Chr.6:31817661 - 32683279 on Build GRCh38 Loss SKIV2L TNXB HCG23 BTNL2 ZBTB12 TNXA SNORD52 HLA-DRB5 EGFL8 MIR6721 NELFE C6orf48 STK19 PBX2 DXO RNF5 HSPA1B HSPA1A HLA-DRB1 HLA-DRB6 NEU1 C2 NOTCH4 GPSM3 FKBPL HLA-DRA SLC44A4 C6orf10 CFB HLA-DQB1 ATF6B PRRT1 HLA-DQB1-AS1 PPT2-EGFL8 AGPAT1 PPT2 AGER SNORD48 CYP21A1P LOC101929163 C4B MIR1236 C4A C2-AS1 CYP21A2 LOC100507547 MIR6833 EHMT2 HLA-DQA1
dgv10472n54 Chr.6:31985690 - 32812026 on Build GRCh38 Loss C6orf10 TNXB HCG23 BTNL2 HLA-DQB1 TNXA ATF6B PRRT1 HLA-DQB1-AS1 PPT2-EGFL8 HLA-DRB5 AGPAT1 EGFL8 MIR6721 PPT2 AGER MIR3135B CYP21A1P PBX2 LOC101929163 RNF5 C4B HLA-DRB1 HLA-DRB6 HLA-DQB2 NOTCH4 C4A CYP21A2 GPSM3 FKBPL LOC100507547 MIR6833 HLA-DQA2 HLA-DRA HLA-DQA1
nsv1126749 Chr.6:31457323 - 32594423 on Build GRCh38 Deletion LOC100287329 DDX39B-AS1 SKIV2L TNXB HCG23 BTNL2 LOC102725068 ZBTB12 TNXA ABHD16A SNORA38 SAPCD1-AS1 ATP6V1G2 C6orf25 SNORD52 LY6G6E HLA-DRB5 VARS EGFL8 MIR6721 HSPA1L CSNK2B NELFE MICB PRRC2A SAPCD1 C6orf48 C6orf47 MIR6832 LY6G5B APOM STK19 PBX2 DXO RNF5 TNF MIR4646 HSPA1B LTB HSPA1A HLA-DRB1 HLA-DRB6 NFKBIL1 DDAH2 NEU1 VWA7 C2 NOTCH4 SNORD117 GPSM3 FKBPL GPANK1 LY6G6D SNORD84 HLA-DRA SLC44A4 MSH5 C6orf10 CFB LTA HCG26 ATF6B ATP6V1G2-DDX39B BAG6 LY6G5C PRRT1 PPT2-EGFL8 DDX39B AGPAT1 PPT2 AGER MSH5-SAPCD1 SNORD48 CYP21A1P LY6G6C LST1 HCP5 CLIC1 LOC101929163 C4B LY6G6F MIR1236 C4A AIF1 C2-AS1 CYP21A2 LOC100507547 MIR6833 NCR3 LSM2 EHMT2 MCCD1
nsv1073969 Chr.6:31456422 - 33480523 on Build GRCh38 Deletion LOC100287329 SKIV2L TNXB HCG23 BTNL2 ZBTB12 TNXA ABHD16A SNORA38 ATP6V1G2 C6orf25 TAP2 WDR46 TAPBP SNORD52 PHF1 HLA-DMA NELFE SLC39A7 C6orf47 LY6G5B BRD2 PSMB8-AS1 DXO HSPA1B PSMB9 HSPA1A DDAH2 SNORD117 SNORD84 HLA-DPA1 HCG24 C6orf10 LTA HCG25 HLA-DOA HLA-DQB1 ZBTB9 HCG26 MIR6834 ZBTB22 CUTA BAG6 LY6G5C PRRT1 DDX39B PPT2 SYNGAP1 AGER HCP5 CLIC1 HLA-DPB1 C4B VPS52 PPP1R2P1 C4A AIF1 CYP21A2 NCR3 EHMT2 HLA-DQA1 DDX39B-AS1 LOC102725068 HSD17B8 SAPCD1-AS1 LY6G6E HLA-DRB5 PSMB8 VARS EGFL8 MIR6721 HSPA1L CSNK2B DAXX MICB PRRC2A HLA-DPB2 SAPCD1 C6orf48 MIR6832 APOM STK19 PBX2 RNF5 TNF MIR4646 LTB HLA-DRB1 HLA-DRB6 NFKBIL1 NEU1 RGL2 VWA7 C2 NOTCH4 GPSM3 FKBPL GPANK1 LY6G6D HLA-DQA2 HLA-DRA SLC44A4 MSH5 CFB MIR6873 ATF6B ATP6V1G2-DDX39B MIR5004 HLA-DQB1-AS1 PPT2-EGFL8 HLA-DMB AGPAT1 MIR219A1 KIFC1 MIR3135B MSH5-SAPCD1 RXRB SNORD48 CYP21A1P TAP1 LY6G6C LST1 LOC100294145 RPS18 LOC101929163 B3GALT4 COL11A2 LY6G6F MIR1236 RING1 HLA-DQB2 PFDN6 C2-AS1 LOC100507547 MIR6833 LSM2 HLA-DOB MCCD1
dgv10482n54 Chr.6:32017441 - 32042495 on Build GRCh38 Loss TNXB CYP21A2 C4B
nsv819957 Chr.6:31988273 - 32033484 on Build GRCh38 Loss CYP21A1P C4A TNXA C4B
dgv10484n54 Chr.6:32020248 - 32029164 on Build GRCh38 Loss C4B
nsv981129 Chr.6:31980992 - 32057861 on Build GRCh38 Duplication CYP21A1P TNXB C4A CYP21A2 STK19 TNXA C4B
nsv823507 Chr.6:31995856 - 32028806 on Build GRCh38 Loss CYP21A1P C4A TNXA C4B
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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