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Fusion gene ID: 5787 |
FusionGeneSummary for CCDC12_S100A9 |
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Fusion gene information | Fusion gene name: CCDC12_S100A9 | Fusion gene ID: 5787 | Hgene | Tgene | Gene symbol | CCDC12 | S100A9 | Gene ID | 151903 | 6280 |
Gene name | coiled-coil domain containing 12 | S100 calcium binding protein A9 | |
Synonyms | - | 60B8AG|CAGB|CFAG|CGLB|L1AG|LIAG|MAC387|MIF|MRP14|NIF|P14 | |
Cytomap | 3p21.31 | 1q21.3 | |
Type of gene | protein-coding | protein-coding | |
Description | coiled-coil domain-containing protein 12 | protein S100-A9MRP-14calgranulin Bcalprotectin L1H subunitleukocyte L1 complex heavy chainmigration inhibitory factor-related protein 14 | |
Modification date | 20180519 | 20180527 | |
UniProtAcc | Q8WUD4 | P06702 | |
Ensembl transtripts involved in fusion gene | ENST00000425441, ENST00000292314, ENST00000546280, ENST00000605358, | ENST00000368738, | |
Fusion gene scores | * DoF score | 3 X 3 X 2=18 | 6 X 6 X 2=72 |
# samples | 3 | 6 | |
** MAII score | log2(3/18*10)=0.736965594166206 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | log2(6/72*10)=-0.263034405833794 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
Context | PubMed: CCDC12 [Title/Abstract] AND S100A9 [Title/Abstract] AND fusion [Title/Abstract] | ||
Functional or gene categories assigned by FusionGDB annotation |
* DoF score (Degree of Frequency) = # partners X # break points X # cancer types ** MAII score (Major Active Isofusion Index) = log2(# samples/DoF score*10) |
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Partner | Gene | GO ID | GO term | PubMed ID |
Tgene | S100A9 | GO:0002523 | leukocyte migration involved in inflammatory response | 12626582 |
Tgene | S100A9 | GO:0006914 | autophagy | 19935772 |
Tgene | S100A9 | GO:0006919 | activation of cysteine-type endopeptidase activity involved in apoptotic process | 19935772 |
Tgene | S100A9 | GO:0030593 | neutrophil chemotaxis | 12626582 |
Tgene | S100A9 | GO:0035606 | peptidyl-cysteine S-trans-nitrosylation | 25417112 |
Tgene | S100A9 | GO:0035821 | modification of morphology or physiology of other organism | 12874352 |
Tgene | S100A9 | GO:0050729 | positive regulation of inflammatory response | 12626582 |
Tgene | S100A9 | GO:0061844 | antimicrobial humoral immune response mediated by antimicrobial peptide | 12874352 |
Tgene | S100A9 | GO:0070488 | neutrophil aggregation | 12626582 |
Tgene | S100A9 | GO:2001244 | positive regulation of intrinsic apoptotic signaling pathway | 19935772 |
![]() (ChiTars (NAR, 2018), tumorfusions (NAR, 2018), Gao et al. (Cell, 2018)) * All genome coordinats were lifted-over on hg19. * Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser. |
Data type | Source | Cancer type | Sample | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
ChiTaRS3.1 | BI020912 | CCDC12 | chr3 | 47007499 | - | S100A9 | chr1 | 153333305 | + |
* LD: Li Ding group's fusion gene list RV: Roel Verhaak group's fusion gene list ChiTaRs fusion database |
![]() * Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser. |
ORF | Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
intron-3CDS | ENST00000425441 | ENST00000368738 | CCDC12 | chr3 | 47007499 | - | S100A9 | chr1 | 153333305 | + |
intron-3CDS | ENST00000292314 | ENST00000368738 | CCDC12 | chr3 | 47007499 | - | S100A9 | chr1 | 153333305 | + |
intron-3CDS | ENST00000546280 | ENST00000368738 | CCDC12 | chr3 | 47007499 | - | S100A9 | chr1 | 153333305 | + |
intron-3CDS | ENST00000605358 | ENST00000368738 | CCDC12 | chr3 | 47007499 | - | S100A9 | chr1 | 153333305 | + |
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FusionProtFeatures for CCDC12_S100A9 |
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Hgene | Tgene |
CCDC12 | S100A9 |
S100A9 is a calcium- and zinc-binding protein whichplays a prominent role in the regulation of inflammatory processesand immune response. It can induce neutrophil chemotaxis,adhesion, can increase the bactericidal activity of neutrophils bypromoting phagocytosis via activation of SYK, PI3K/AKT, and ERK1/2and can induce degranulation of neutrophils by a MAPK-dependentmechanism. Predominantly found as calprotectin (S100A8/A9) whichhas a wide plethora of intra- and extracellular functions. Theintracellular functions include: facilitating leukocytearachidonic acid trafficking and metabolism, modulation of thetubulin-dependent cytoskeleton during migration of phagocytes andactivation of the neutrophilic NADPH-oxidase. Activates NADPH-oxidase by facilitating the enzyme complex assembly at the cellmembrane, transferring arachidonic acid, an essential cofactor, tothe enzyme complex and S100A8 contributes to the enzyme assemblyby directly binding to NCF2/P67PHOX. The extracellular functionsinvolve proinflammatory, antimicrobial, oxidant-scavenging andapoptosis-inducing activities. Its proinflammatory activityincludes recruitment of leukocytes, promotion of cytokine andchemokine production, and regulation of leukocyte adhesion andmigration. Acts as an alarmin or a danger associated molecularpattern (DAMP) molecule and stimulates innate immune cells viabinding to pattern recognition receptors such as Toll-likereceptor 4 (TLR4) and receptor for advanced glycation endproducts(AGER). Binding to TLR4 and AGER activates the MAP-kinase and NF-kappa-B signaling pathways resulting in the amplification of theproinflammatory cascade. Has antimicrobial activity towardsbacteria and fungi and exerts its antimicrobial activity probablyvia chelation of Zn(2+) which is essential for microbial growth.Can induce cell death via autophagy and apoptosis and this occursthrough the cross-talk of mitochondria and lysosomes via reactiveoxygen species (ROS) and the process involves BNIP3. Can regulateneutrophil number and apoptosis by an anti-apoptotic effect;regulates cell survival via ITGAM/ITGB and TLR4 and a signalingmechanism involving MEK-ERK. Its role as an oxidant scavenger hasa protective role in preventing exaggerated tissue damage byscavenging oxidants. Can act as a potent amplifier of inflammationin autoimmunity as well as in cancer development and tumor spread.Has transnitrosylase activity; in oxidatively-modified low-densitity lipoprotein (LDL(ox))-induced S-nitrosylation of GAPDHon 'Cys-247' proposed to transfer the NO moiety from NOS2/iNOS toGAPDH via its own S-nitrosylated Cys-3. The iNOS-S100A8/A9transnitrosylase complex is proposed to also direct selectiveinflammatory stimulus-dependent S-nitrosylation of multipletargets such as ANXA5, EZR, MSN and VIM by recognizing a [IL]-x-C-x-x-[DE] motif. {ECO:0000269|PubMed:12626582,ECO:0000269|PubMed:15331440, ECO:0000269|PubMed:15598812,ECO:0000269|PubMed:15642721, ECO:0000269|PubMed:16258195,ECO:0000269|PubMed:19087201, ECO:0000269|PubMed:19122197,ECO:0000269|PubMed:19402754, ECO:0000269|PubMed:19534726,ECO:0000269|PubMed:19935772, ECO:0000269|PubMed:20103766,ECO:0000269|PubMed:21325622, ECO:0000269|PubMed:21487906,ECO:0000269|PubMed:22363402, ECO:0000269|PubMed:22804476,ECO:0000269|PubMed:22808130, ECO:0000269|PubMed:25417112,ECO:0000269|PubMed:8423249}. |
![]() * Minus value of BPloci means that the break pointn is located before the CDS. |
- In-frame and retained protein feature among the 13 regional features. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
- In-frame and not-retained protein feature among the 13 regional features. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
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FusionGeneSequence for CCDC12_S100A9 |
![]() (nt: nucleotides, aa: amino acids) |
* Fusion amino acid sequences. |
* Fusion transcript sequences (only coding sequence (CDS) region). |
* Fusion transcript sequences (Full-length transcript). |
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FusionGenePPI for CCDC12_S100A9 |
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Hgene | Hgene's interactors | Tgene | Tgene's interactors |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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RelatedDrugs for CCDC12_S100A9 |
![]() (DrugBank Version 5.1.0 2018-04-02) |
Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
Tgene | S100A9 | P06702 | DB01593 | Zinc | Protein S100-A9 | small molecule | approved|investigational |
Tgene | S100A9 | P06702 | DB01373 | Calcium | Protein S100-A9 | small molecule | approved|nutraceutical |
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RelatedDiseases for CCDC12_S100A9 |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Tgene | S100A9 | C0009375 | Colonic Neoplasms | 1 | CTD_human |
Tgene | S100A9 | C0022548 | Keloid | 1 | CTD_human |
Tgene | S100A9 | C0023893 | Liver Cirrhosis, Experimental | 1 | CTD_human |
Tgene | S100A9 | C0035222 | Respiratory Distress Syndrome, Adult | 1 | CTD_human |
Tgene | S100A9 | C0036341 | Schizophrenia | 1 | PSYGENET |