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Gene Symbol
CFB
Assay Reference Genome
Location

Chr.6:31947505 on build GRCh38
Cytoband
6p21.33
Assay ID Hs01435617_cn
Size
Availability Made To Order
Catalog # 4400291
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Assay Details

Target Gene Details

Entrez Gene ID:

 629

Gene Name:

 complement factor B

Gene Aliases:

 AHUS4, ARMD14, BF, BFD, CFAB, CFBD, FB, FBI12, GBG, H2-Bf, PBF2

Location:

 Chr.6:31945944-31952084 on Build GRCh38

Assay Gene Location:

 Overlaps Exon 4 - Intron 4
Gene Symbol Transcript Accession Exon Location Assay Transcript Location Protein ID
CFB NM_001710.5 NP_001701.2
AF349679.1 AAK30167.1
AK130533.1
AK223400.1 BAD97120.1
BC004143.2 AAH04143.1
BC007990.2 AAH07990.1
K01566.1 AAA36225.2
L15702.1 AAA16820.1
S67310.1 AAD13989.1
X00284.1 CAA25077.1
X72875.1 CAA51389.1

Target Copy Number Variation Details

DGV Version:

 Release date: 2016-05-15, GRCh GRCh38
Target
Variation		 Location CNV
Subtype		 Genes
dgv10463n54 Chr.6:31817661 - 32683279 on Build GRCh38 Loss MIR1236 SNORD48 NELFE CYP21A2 HLA-DRB5 HCG23 C6orf10 MIR6721 PRRT1 C6orf48 ZBTB12 NEU1 HLA-DQA1 SKIV2L ATF6B TNXB BTNL2 HLA-DRB6 SNORD52 LOC100507547 AGER HLA-DQB1 C2 TNXA HSPA1B RNF5 CYP21A1P LOC101929163 HLA-DRA PPT2 PBX2 AGPAT1 C4A GPSM3 STK19 HLA-DQB1-AS1 EGFL8 HLA-DRB1 C2-AS1 CFB PPT2-EGFL8 SLC44A4 EHMT2 NOTCH4 C4B MIR6833 DXO HSPA1A FKBPL
esv2759415 Chr.6:31903735 - 32241336 on Build GRCh38 Gain+Loss MIR1236 PPT2 PBX2 NELFE CYP21A2 AGPAT1 C4A GPSM3 STK19 EGFL8 MIR6721 C2-AS1 PRRT1 CFB PPT2-EGFL8 SKIV2L ATF6B NOTCH4 C4B MIR6833 TNXB DXO LOC100507547 AGER FKBPL C2 TNXA RNF5 CYP21A1P
nsv1126749 Chr.6:31457323 - 32594423 on Build GRCh38 Deletion VWA7 TNF MIR1236 SAPCD1-AS1 SNORD48 DDX39B-AS1 LOC102725068 LY6G6D LY6G5B BAG6 DDAH2 NELFE CYP21A2 GPANK1 HLA-DRB5 CLIC1 HCG23 LY6G5C C6orf10 MIR6721 APOM PRRT1 C6orf48 ATP6V1G2 ATP6V1G2-DDX39B ZBTB12 NEU1 SKIV2L ATF6B VARS TNXB BTNL2 MIR6832 HLA-DRB6 SNORD52 NFKBIL1 LOC100507547 SNORA38 PRRC2A AGER LOC100287329 C2 TNXA HSPA1B RNF5 SAPCD1 LSM2 ABHD16A CYP21A1P LST1 MSH5 DDX39B LOC101929163 MIR4646 HLA-DRA NCR3 PPT2 SNORD84 PBX2 MCCD1 MSH5-SAPCD1 AGPAT1 LTA C4A GPSM3 STK19 EGFL8 HCP5 LY6G6F HLA-DRB1 C6orf25 SNORD117 C2-AS1 HCG26 CFB PPT2-EGFL8 SLC44A4 EHMT2 NOTCH4 C4B MIR6833 LY6G6C HSPA1L LTB DXO HSPA1A C6orf47 FKBPL LY6G6E CSNK2B MICB AIF1
nsv1073969 Chr.6:31456422 - 33480523 on Build GRCh38 Deletion VWA7 ZBTB9 MIR1236 HLA-DQB2 BRD2 SAPCD1-AS1 DDX39B-AS1 LOC102725068 BAG6 HLA-DMA DDAH2 GPANK1 SYNGAP1 CLIC1 RPS18 PHF1 HCG25 PRRT1 C6orf48 ATP6V1G2 ATP6V1G2-DDX39B PFDN6 NEU1 HLA-DQA1 ATF6B VARS HCG24 HLA-DRB6 VPS52 SNORD52 LOC100507547 SNORA38 TAP1 PRRC2A LOC100287329 HLA-DQB1 HLA-DOA LSM2 ABHD16A LST1 MSH5 HLA-DQA2 DDX39B LOC101929163 MIR4646 HLA-DOB NCR3 PPT2 HLA-DPA1 MSH5-SAPCD1 C4A KIFC1 GPSM3 HLA-DPB2 STK19 HLA-DQB1-AS1 LOC100294145 SLC39A7 HCP5 LY6G6F HLA-DRB1 SNORD117 MIR6873 HCG26 CFB WDR46 SLC44A4 EHMT2 C4B MIR6833 HSPA1L CUTA DXO HSPA1A C6orf47 FKBPL AIF1 PSMB8 TNF MIR6834 SNORD48 HLA-DMB LY6G6D LY6G5B MIR3135B NELFE CYP21A2 HLA-DRB5 HCG23 RGL2 MIR5004 LY6G5C C6orf10 MIR6721 APOM DAXX ZBTB12 SKIV2L MIR219A1 TNXB RXRB COL11A2 BTNL2 MIR6832 NFKBIL1 PSMB8-AS1 AGER C2 PPP1R2P1 ZBTB22 TNXA HSPA1B RNF5 SAPCD1 CYP21A1P HLA-DRA SNORD84 PBX2 HSD17B8 MCCD1 AGPAT1 LTA EGFL8 HLA-DPB1 C6orf25 B3GALT4 C2-AS1 PPT2-EGFL8 TAPBP NOTCH4 LY6G6C TAP2 PSMB9 LTB LY6G6E CSNK2B MICB RING1
dgv10403n54 Chr.6:31312324 - 32049763 on Build GRCh38 Loss VWA7 TNF MIR1236 SAPCD1-AS1 SNORD48 DDX39B-AS1 LOC102725068 LY6G6D LY6G5B BAG6 DDAH2 NELFE CYP21A2 GPANK1 CLIC1 MICA LY6G5C APOM C6orf48 ATP6V1G2 ATP6V1G2-DDX39B ZBTB12 NEU1 SKIV2L VARS TNXB MIR6832 SNORD52 NFKBIL1 SNORA38 PRRC2A LOC100287329 C2 TNXA HSPA1B SAPCD1 LSM2 ABHD16A CYP21A1P LST1 MSH5 DDX39B HLA-B MIR4646 NCR3 SNORD84 MCCD1 MSH5-SAPCD1 LTA C4A STK19 HCP5 LY6G6F C6orf25 SNORD117 C2-AS1 HCG26 CFB SLC44A4 EHMT2 C4B LY6G6C HSPA1L LTB DXO HSPA1A C6orf47 LY6G6E CSNK2B MICB AIF1 MIR6891
nsv1112900 Chr.6:31455323 - 33480423 on Build GRCh38 Deletion VWA7 ZBTB9 MIR1236 HLA-DQB2 BRD2 SAPCD1-AS1 DDX39B-AS1 LOC102725068 BAG6 HLA-DMA DDAH2 GPANK1 SYNGAP1 CLIC1 RPS18 PHF1 HCG25 PRRT1 C6orf48 ATP6V1G2 ATP6V1G2-DDX39B PFDN6 NEU1 HLA-DQA1 ATF6B VARS HCG24 HLA-DRB6 VPS52 SNORD52 LOC100507547 SNORA38 TAP1 PRRC2A LOC100287329 HLA-DQB1 HLA-DOA LSM2 ABHD16A LST1 MSH5 HLA-DQA2 DDX39B LOC101929163 MIR4646 HLA-DOB NCR3 PPT2 HLA-DPA1 MSH5-SAPCD1 C4A KIFC1 GPSM3 HLA-DPB2 STK19 HLA-DQB1-AS1 LOC100294145 SLC39A7 HCP5 LY6G6F HLA-DRB1 SNORD117 MIR6873 HCG26 CFB WDR46 SLC44A4 EHMT2 C4B MIR6833 HSPA1L CUTA DXO HSPA1A C6orf47 FKBPL AIF1 PSMB8 TNF MIR6834 SNORD48 HLA-DMB LY6G6D LY6G5B MIR3135B NELFE CYP21A2 HLA-DRB5 HCG23 RGL2 MIR5004 LY6G5C C6orf10 MIR6721 APOM DAXX ZBTB12 SKIV2L MIR219A1 TNXB RXRB COL11A2 BTNL2 MIR6832 NFKBIL1 PSMB8-AS1 AGER C2 PPP1R2P1 ZBTB22 TNXA HSPA1B RNF5 SAPCD1 CYP21A1P HLA-DRA SNORD84 PBX2 HSD17B8 MCCD1 AGPAT1 LTA EGFL8 HLA-DPB1 C6orf25 B3GALT4 C2-AS1 PPT2-EGFL8 TAPBP NOTCH4 LY6G6C TAP2 PSMB9 LTB LY6G6E CSNK2B MICB RING1
nsv830628 Chr.6:31919777 - 31979823 on Build GRCh38 Loss CFB SKIV2L MIR1236 STK19 C2 C2-AS1 NELFE DXO
dgv10404n54 Chr.6:31312550 - 32516591 on Build GRCh38 Loss VWA7 TNF MIR1236 SAPCD1-AS1 SNORD48 DDX39B-AS1 LOC102725068 LY6G6D LY6G5B BAG6 DDAH2 NELFE CYP21A2 GPANK1 CLIC1 MICA HCG23 LY6G5C C6orf10 MIR6721 APOM PRRT1 C6orf48 ATP6V1G2 ATP6V1G2-DDX39B ZBTB12 NEU1 SKIV2L ATF6B VARS TNXB BTNL2 MIR6832 SNORD52 NFKBIL1 LOC100507547 SNORA38 PRRC2A AGER LOC100287329 C2 TNXA HSPA1B RNF5 SAPCD1 LSM2 ABHD16A CYP21A1P LST1 MSH5 DDX39B HLA-B LOC101929163 MIR4646 HLA-DRA NCR3 PPT2 SNORD84 PBX2 MCCD1 MSH5-SAPCD1 AGPAT1 LTA C4A GPSM3 STK19 EGFL8 HCP5 LY6G6F C6orf25 SNORD117 C2-AS1 HCG26 CFB PPT2-EGFL8 SLC44A4 EHMT2 NOTCH4 C4B MIR6833 LY6G6C HSPA1L LTB DXO HSPA1A C6orf47 FKBPL LY6G6E CSNK2B MICB AIF1 MIR6891

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