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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: 22218

FusionGeneSummary for MMP14_RBM23

check button Fusion gene summary
Fusion gene informationFusion gene name: MMP14_RBM23
Fusion gene ID: 22218
HgeneTgene
Gene symbol

MMP14

RBM23

Gene ID

4323

55147

Gene namematrix metallopeptidase 14RNA binding motif protein 23
SynonymsMMP-14|MMP-X1|MT-MMP|MT-MMP 1|MT1-MMP|MT1MMP|MTMMP1|WNCHRSCAPERbeta|PP239|RNPC4
Cytomap

14q11.2

14q11.2

Type of geneprotein-codingprotein-coding
Descriptionmatrix metalloproteinase-14matrix metallopeptidase 14 (membrane-inserted)membrane type 1 metalloproteasemembrane-type-1 matrix metalloproteinaseprobable RNA-binding protein 23RNA-binding region (RNP1, RRM) containing 4RNA-binding region-containing protein 4coactivator of activating protein-1 and estrogen recep- tors betasplicing factor SF2
Modification date2018052220180523
UniProtAcc

P50281

Q86U06

Ensembl transtripts involved in fusion geneENST00000311852, ENST00000548162, 
ENST00000555209, ENST00000359890, 
ENST00000399922, ENST00000346528, 
ENST00000542016, ENST00000556984, 
Fusion gene scores* DoF score5 X 5 X 4=1002 X 2 X 2=8
# samples 52
** MAII scorelog2(5/100*10)=-1
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(2/8*10)=1.32192809488736
Context

PubMed: MMP14 [Title/Abstract] AND RBM23 [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
HgeneMMP14

GO:0006508

proteolysis

15863497|24970228

HgeneMMP14

GO:0030307

positive regulation of cell growth

22065321

HgeneMMP14

GO:0030335

positive regulation of cell migration

22065321


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
TCGARVKICHTCGA-KL-8339-01AMMP14chr14

23306134

+RBM23chr14

23371591

-
* 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
In-frameENST00000311852ENST00000555209MMP14chr14

23306134

+RBM23chr14

23371591

-
In-frameENST00000311852ENST00000359890MMP14chr14

23306134

+RBM23chr14

23371591

-
In-frameENST00000311852ENST00000399922MMP14chr14

23306134

+RBM23chr14

23371591

-
In-frameENST00000311852ENST00000346528MMP14chr14

23306134

+RBM23chr14

23371591

-
In-frameENST00000311852ENST00000542016MMP14chr14

23306134

+RBM23chr14

23371591

-
5CDS-intronENST00000311852ENST00000556984MMP14chr14

23306134

+RBM23chr14

23371591

-
3UTR-3CDSENST00000548162ENST00000555209MMP14chr14

23306134

+RBM23chr14

23371591

-
3UTR-3CDSENST00000548162ENST00000359890MMP14chr14

23306134

+RBM23chr14

23371591

-
3UTR-3CDSENST00000548162ENST00000399922MMP14chr14

23306134

+RBM23chr14

23371591

-
3UTR-3CDSENST00000548162ENST00000346528MMP14chr14

23306134

+RBM23chr14

23371591

-
3UTR-3CDSENST00000548162ENST00000542016MMP14chr14

23306134

+RBM23chr14

23371591

-
3UTR-intronENST00000548162ENST00000556984MMP14chr14

23306134

+RBM23chr14

23371591

-

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FusionProtFeatures for MMP14_RBM23


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
MMP14

P50281

RBM23

Q86U06

Endopeptidase that degrades various components of theextracellular matrix such as collagen. Activates progelatinase A.Essential for pericellular collagenolysis and modeling of skeletaland extraskeletal connective tissues during development (Bysimilarity). May be involved in actin cytoskeleton reorganizationby cleaving PTK7 (PubMed:20837484). Acts as a positive regulatorof cell growth and migration via activation of MMP15. Involved inthe formation of the fibrovascular tissues in association withpro-MMP2 (PubMed:12714657). Cleaves ADGRB1 to releasevasculostatin-40 which inhibits angiogenesis (PubMed:22330140).{ECO:0000250|UniProtKB:P53690, ECO:0000269|PubMed:12714657,ECO:0000269|PubMed:20837484, ECO:0000269|PubMed:22065321,ECO:0000269|PubMed:22330140}. Probable RNA-binding protein. May be involved in pre-mRNA splicing process.

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
TgeneRBM23chr14:23306134chr14:23371591ENST00000346528-712371_424276406Compositional biasNote=Ala-rich
TgeneRBM23chr14:23306134chr14:23371591ENST00000359890-914371_424310440Compositional biasNote=Ala-rich
TgeneRBM23chr14:23306134chr14:23371591ENST00000399922-813371_424294424Compositional biasNote=Ala-rich

- In-frame and not-retained protein feature among the 13 regional features.
>>>>>>>>
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneMMP14chr14:23306134chr14:23371591ENST00000311852+11091_9836583MotifCysteine switch
HgeneMMP14chr14:23306134chr14:23371591ENST00000311852+110316_36436583RepeatNote=Hemopexin 1
HgeneMMP14chr14:23306134chr14:23371591ENST00000311852+110365_41036583RepeatNote=Hemopexin 2
HgeneMMP14chr14:23306134chr14:23371591ENST00000311852+110412_46036583RepeatNote=Hemopexin 3
HgeneMMP14chr14:23306134chr14:23371591ENST00000311852+110461_50836583RepeatNote=Hemopexin 4
HgeneMMP14chr14:23306134chr14:23371591ENST00000311852+110112_54136583Topological domainExtracellular
HgeneMMP14chr14:23306134chr14:23371591ENST00000311852+110563_58236583Topological domainCytoplasmic
HgeneMMP14chr14:23306134chr14:23371591ENST00000311852+110542_56236583TransmembraneHelical
TgeneRBM23chr14:23306134chr14:23371591ENST00000346528-71263_127276406Compositional biasNote=Arg-rich
TgeneRBM23chr14:23306134chr14:23371591ENST00000359890-91463_127310440Compositional biasNote=Arg-rich
TgeneRBM23chr14:23306134chr14:23371591ENST00000399922-81363_127294424Compositional biasNote=Arg-rich
TgeneRBM23chr14:23306134chr14:23371591ENST00000346528-712166_243276406DomainRRM 1
TgeneRBM23chr14:23306134chr14:23371591ENST00000346528-712263_341276406DomainRRM 2
TgeneRBM23chr14:23306134chr14:23371591ENST00000359890-914166_243310440DomainRRM 1
TgeneRBM23chr14:23306134chr14:23371591ENST00000359890-914263_341310440DomainRRM 2
TgeneRBM23chr14:23306134chr14:23371591ENST00000399922-813166_243294424DomainRRM 1
TgeneRBM23chr14:23306134chr14:23371591ENST00000399922-813263_341294424DomainRRM 2


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FusionGeneSequence for MMP14_RBM23


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 MMP14_RBM23


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
MMP14LUM, LRP1, TIMP2, C1QBP, SPOCK3, BCAR1, RRAD, PLLP, CCDC155, FURIN, MMP3, TIMP1RBM23TUBA4A, GTF3C1, POLA2, PTN, RPA1, MED31, KIAA1377, SRRM1, JMJD6, ESR1, PGR, VCP, RBM25, CHERP, RBM39, RBM4, PRMT5, QKI, RBFOX2, SRPK2, CDK6, SRPK1, MAGEA11, TRIM27, BHLHE40, MAGED1, FAM9B, FBL, LUC7L, LRRC1, SCRIB, DIS3, ANKHD1, ANKRD17, ACOT2, NAA10, DBNL, AHCYL2, ZNF579, CHST8, CHCHD10, CLEC3A, TNFRSF13B, BHLHA15, RIPPLY2, RSRP1, CDX1, PDHA1


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 MMP14_RBM23


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 MMP14_RBM23


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneMMP14C0001418Adenocarcinoma1CTD_human
HgeneMMP14C0007621Neoplastic Cell Transformation1CTD_human
HgeneMMP14C0014859Esophageal Neoplasms1CTD_human
HgeneMMP14C0024117Chronic Obstructive Airway Disease1CTD_human
HgeneMMP14C0027626Neoplasm Invasiveness1CTD_human
HgeneMMP14C0162871Aortic Aneurysm, Abdominal1CTD_human
HgeneMMP14C0432289Winchester syndrome (disorder)1UNIPROT
HgeneMMP14C1458155Mammary Neoplasms1CTD_human