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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: 30799

FusionGeneSummary for RBMS1_AOX3P

check button Fusion gene summary
Fusion gene informationFusion gene name: RBMS1_AOX3P
Fusion gene ID: 30799
HgeneTgene
Gene symbol

RBMS1

AOX3P

Gene ID

5937

107126360

Gene nameRNA binding motif single stranded interacting protein 1aldehyde oxidase 3, pseudogene
SynonymsC2orf12|HCC-4|MSSP|MSSP-1|MSSP-2|MSSP-3|SCR2|YC1AOH1|AOX3
Cytomap

2q24.2

2q33.1

Type of geneprotein-codingpseudo
DescriptionRNA-binding motif, single-stranded-interacting protein 1c-myc gene single strand binding protein 2cervical cancer oncogene 4single-stranded DNA-binding protein MSSP-1suppressor of CDC2 with RNA-binding motif 2suppressor of cdc 2 (cdc13) with RNA bind-
Modification date2018052320180329
UniProtAcc

P29558

Ensembl transtripts involved in fusion geneENST00000474820, ENST00000348849, 
ENST00000409075, ENST00000409289, 
ENST00000392753, ENST00000409972, 
ENST00000469595, 
Fusion gene scores* DoF score8 X 4 X 6=1922 X 2 X 2=8
# samples 82
** MAII scorelog2(8/192*10)=-1.26303440583379
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(2/8*10)=1.32192809488736
Context

PubMed: RBMS1 [Title/Abstract] AND AOX3P [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

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
TCGALDKIRPTCGA-BQ-5878-01ARBMS1chr2

161135059

-AOX3Pchr2

201587701

+
* 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
5UTR-intronENST00000474820ENST00000469595RBMS1chr2

161135059

-AOX3Pchr2

201587701

+
5CDS-intronENST00000348849ENST00000469595RBMS1chr2

161135059

-AOX3Pchr2

201587701

+
5CDS-intronENST00000409075ENST00000469595RBMS1chr2

161135059

-AOX3Pchr2

201587701

+
5CDS-intronENST00000409289ENST00000469595RBMS1chr2

161135059

-AOX3Pchr2

201587701

+
5CDS-intronENST00000392753ENST00000469595RBMS1chr2

161135059

-AOX3Pchr2

201587701

+
5CDS-intronENST00000409972ENST00000469595RBMS1chr2

161135059

-AOX3Pchr2

201587701

+

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FusionProtFeatures for RBMS1_AOX3P


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
RBMS1

P29558

AOX3P

Single-stranded DNA binding protein that interacts withthe region upstream of the MYC gene. Binds specifically to the DNAsequence motif 5'-[AT]CT[AT][AT]T-3'. Probably has a role in DNAreplication. Lectin that binds to various sugars: galactose > mannose= fucose > N-acetylglucosamine > N-acetylgalactosamine(PubMed:10224141). Acts as a chemoattractant, probably involved inthe regulation of cell migration (PubMed:28301481).{ECO:0000269|PubMed:10224141, ECO:0000269|PubMed:28301481}.

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 RBMS1_AOX3P


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 RBMS1_AOX3P


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
RBMS1POLA1, GRK5, NDUFA7, NABP2, PPIF, TIMM44, RPS19, PPIB, SCP2, MRPL53, PQBP1, SUGP1, RPL38, SNX3, SARNP, DNM2, UBE2I, SNRPC, MRRF, SRPRB, RFX5, HRSP12, UBQLN1, RRBP1, STX7, ZC3H11A, SBDS, TFCP2, HIST1H1A, FHL3, HNRNPA1, RBFOX2, XPO1, LPXN, HIST1H1E, RRS1, FAM136A, FGF8, HTRA4, SMAP2, SMAD9, ZNF143, G3BP1AOX3P


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 RBMS1_AOX3P


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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RelatedDiseases for RBMS1_AOX3P


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource