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Center for Computational Systems Medicine
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FusionGeneSummary

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FusionProtFeature

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FusionGeneSequence

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FusionGenePPI

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RelatedDrugs

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RelatedDiseases

Fusion gene ID: 30714

FusionGeneSummary for RBM18_S100A9

check button Fusion gene summary
Fusion gene informationFusion gene name: RBM18_S100A9
Fusion gene ID: 30714
HgeneTgene
Gene symbol

RBM18

S100A9

Gene ID

92400

6280

Gene nameRNA binding motif protein 18S100 calcium binding protein A9
Synonyms-60B8AG|CAGB|CFAG|CGLB|L1AG|LIAG|MAC387|MIF|MRP14|NIF|P14
Cytomap

9q33.2

1q21.3

Type of geneprotein-codingprotein-coding
Descriptionprobable RNA-binding protein 18protein S100-A9MRP-14calgranulin Bcalprotectin L1H subunitleukocyte L1 complex heavy chainmigration inhibitory factor-related protein 14
Modification date2018051920180527
UniProtAcc

Q96H35

P06702

Ensembl transtripts involved in fusion geneENST00000417201, ENST00000483428, 
ENST00000368738, 
Fusion gene scores* DoF score2 X 2 X 2=86 X 6 X 2=72
# samples 26
** MAII scorelog2(2/8*10)=1.32192809488736log2(6/72*10)=-0.263034405833794
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: RBM18 [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)

check button Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez
PartnerGeneGO IDGO termPubMed ID
TgeneS100A9

GO:0002523

leukocyte migration involved in inflammatory response

12626582

TgeneS100A9

GO:0006914

autophagy

19935772

TgeneS100A9

GO:0006919

activation of cysteine-type endopeptidase activity involved in apoptotic process

19935772

TgeneS100A9

GO:0030593

neutrophil chemotaxis

12626582

TgeneS100A9

GO:0035606

peptidyl-cysteine S-trans-nitrosylation

25417112

TgeneS100A9

GO:0035821

modification of morphology or physiology of other organism

12874352

TgeneS100A9

GO:0050729

positive regulation of inflammatory response

12626582

TgeneS100A9

GO:0061844

antimicrobial humoral immune response mediated by antimicrobial peptide

12874352

TgeneS100A9

GO:0070488

neutrophil aggregation

12626582

TgeneS100A9

GO:2001244

positive regulation of intrinsic apoptotic signaling pathway

19935772


check button Fusion gene information from three resources
(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 typeSourceCancer typeSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
ChiTaRS3.1BF893077RBM18chr9

125002951

-S100A9chr1

153333155

-
* LD: Li Ding group's fusion gene list
  RV: Roel Verhaak group's fusion gene list
  ChiTaRs fusion database

check button Open reading frame (ORF) analsis of fusion genes based on Ensembl gene isoform structure.
* Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser.
ORFHenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrand
intron-3CDSENST00000417201ENST00000368738RBM18chr9

125002951

-S100A9chr1

153333155

-
intron-3CDSENST00000483428ENST00000368738RBM18chr9

125002951

-S100A9chr1

153333155

-

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FusionProtFeatures for RBM18_S100A9


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
RBM18

Q96H35

S100A9

P06702

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}.

check buttonRetention analysis result of each fusion partner protein across 39 protein features of UniProt such as six molecule processing features, 13 region features, four site features, six amino acid modification features, two natural variation features, five experimental info features, and 3 secondary structure features. Here, because of limited space for viewing, we only show the protein feature retention information belong to the 13 regional features. All retention annotation result can be downloaded at

download page

.

* 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.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note


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FusionGeneSequence for RBM18_S100A9


check button For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences.
(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 RBM18_S100A9


check button Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in

ChiPPI page

.

check button Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160)
HgeneHgene's interactorsTgeneTgene's interactors


check button - Retained PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenStill interaction with


check button - Lost PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


check button - Retained PPIs, but lost function due to frame-shift fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


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RelatedDrugs for RBM18_S100A9


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
TgeneS100A9P06702DB01593ZincProtein S100-A9small moleculeapproved|investigational
TgeneS100A9P06702DB01373CalciumProtein S100-A9small moleculeapproved|nutraceutical

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RelatedDiseases for RBM18_S100A9


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneS100A9C0009375Colonic Neoplasms1CTD_human
TgeneS100A9C0022548Keloid1CTD_human
TgeneS100A9C0023893Liver Cirrhosis, Experimental1CTD_human
TgeneS100A9C0035222Respiratory Distress Syndrome, Adult1CTD_human
TgeneS100A9C0036341Schizophrenia1PSYGENET