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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: 22564

FusionGeneSummary for MRPS28_ARFGEF1

check button Fusion gene summary
Fusion gene informationFusion gene name: MRPS28_ARFGEF1
Fusion gene ID: 22564
HgeneTgene
Gene symbol

MRPS28

ARFGEF1

Gene ID

60488

10565

Gene namemitochondrial ribosomal protein S35ADP ribosylation factor guanine nucleotide exchange factor 1
SynonymsHDCMD11P|MDS023|MRP-S28|MRPS28ARFGEP1|BIG1|P200
Cytomap

12p11.22

8q13.2

Type of geneprotein-codingprotein-coding
Description28S ribosomal protein S35, mitochondrial28S ribosomal protein S28, mitochondrialMRP-S35S28mtS35mtmitochondrial ribosomal protein S28mitochondrial small ribosomal subunit protein mS35brefeldin A-inhibited guanine nucleotide-exchange protein 1ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited)p200 ARF guanine nucleotide exchange factor
Modification date2018052320180523
UniProtAcc

Q9Y2Q9

Q9Y6D6

Ensembl transtripts involved in fusion geneENST00000276585, ENST00000521434, 
ENST00000521605, ENST00000522987, 
ENST00000520381, ENST00000262215, 
ENST00000517955, ENST00000518230, 
Fusion gene scores* DoF score6 X 1 X 4=247 X 5 X 3=105
# samples 67
** MAII scorelog2(6/24*10)=1.32192809488736
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
log2(7/105*10)=-0.584962500721156
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: MRPS28 [Title/Abstract] AND ARFGEF1 [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
TgeneARFGEF1

GO:0034260

negative regulation of GTPase activity

15644318


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
ChiTaRS3.1BP350832MRPS28chr8

80915234

-ARFGEF1chr8

68214701

-
* 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
5CDS-intronENST00000276585ENST00000520381MRPS28chr8

80915234

-ARFGEF1chr8

68214701

-
5CDS-intronENST00000276585ENST00000262215MRPS28chr8

80915234

-ARFGEF1chr8

68214701

-
5CDS-intronENST00000276585ENST00000517955MRPS28chr8

80915234

-ARFGEF1chr8

68214701

-
5CDS-intronENST00000276585ENST00000518230MRPS28chr8

80915234

-ARFGEF1chr8

68214701

-
5CDS-intronENST00000521434ENST00000520381MRPS28chr8

80915234

-ARFGEF1chr8

68214701

-
5CDS-intronENST00000521434ENST00000262215MRPS28chr8

80915234

-ARFGEF1chr8

68214701

-
5CDS-intronENST00000521434ENST00000517955MRPS28chr8

80915234

-ARFGEF1chr8

68214701

-
5CDS-intronENST00000521434ENST00000518230MRPS28chr8

80915234

-ARFGEF1chr8

68214701

-
intron-intronENST00000521605ENST00000520381MRPS28chr8

80915234

-ARFGEF1chr8

68214701

-
intron-intronENST00000521605ENST00000262215MRPS28chr8

80915234

-ARFGEF1chr8

68214701

-
intron-intronENST00000521605ENST00000517955MRPS28chr8

80915234

-ARFGEF1chr8

68214701

-
intron-intronENST00000521605ENST00000518230MRPS28chr8

80915234

-ARFGEF1chr8

68214701

-
5UTR-intronENST00000522987ENST00000520381MRPS28chr8

80915234

-ARFGEF1chr8

68214701

-
5UTR-intronENST00000522987ENST00000262215MRPS28chr8

80915234

-ARFGEF1chr8

68214701

-
5UTR-intronENST00000522987ENST00000517955MRPS28chr8

80915234

-ARFGEF1chr8

68214701

-
5UTR-intronENST00000522987ENST00000518230MRPS28chr8

80915234

-ARFGEF1chr8

68214701

-

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FusionProtFeatures for MRPS28_ARFGEF1


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
MRPS28

Q9Y2Q9

ARFGEF1

Q9Y6D6

Promotes guanine-nucleotide exchange on ARF1 and ARF3.Promotes the activation of ARF1/ARF3 through replacement of GDPwith GTP. Involved in vesicular trafficking. Required for themaintenance of Golgi structure; the function may be independent ofits GEF activity. Required for the maturaion of integrin beta-1 inthe Golgi. Involved in the establishment and persistence of cellpolarity during directed cell movement in wound healing. Proposedto act as A kinase-anchoring protein (AKAP) and may mediatecrosstalk between Arf and PKA pathways. Inhibits GAP activity ofMYO9B probably through competetive RhoA binding. The function inthe nucleus remains to be determined.{ECO:0000269|PubMed:12571360, ECO:0000269|PubMed:15644318,ECO:0000269|PubMed:17227842, ECO:0000269|PubMed:20360857,ECO:0000269|PubMed:22084092}.

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 MRPS28_ARFGEF1


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 MRPS28_ARFGEF1


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
MRPS28ICT1, CAND1, MRPL32, MRPL13, MRPL53, MRPL41, MRPS26, MRPS9, MRPL12, MRPS18B, MRPL42, SCP2, CDV3, SRPRB, TIAL1, HNRNPU, ILF2, NDUFA7, NPC1, NDUFB6, HNRNPM, RBM27, RPS28, HNRNPR, SLC25A10, PQBP1, NDUFB9, RPS19, MDH2, ABCC2, SYNCRIP, FN1, C1QBP, PARK2, GRSF1, TP53, TUBGCP3, FBXW11, MRPS2, TRMT10B, MRPS31, HNRNPA1, MRPS22, MRPS27, DAP3, PTCD3, HIST1H3E, ERBB3, ZNF746, CDC14B, PTP4A1, MRPS34, MRPS15, MRPS11, RBM3, CFAP20ARFGEF1FKBP2, PRKAR1A, ARFGEF2, DPY30, NCL, FBL, NUP62, SSB, EGFR, SPINT2, CSGALNACT1, PVRIG, HLA-B, CD244, SLAMF1, TBC1D22A, ALDH3A2, TCL1B, NTRK1, SIGLECL1, EDNRB, LAMP3, NPY2R, BRCA1


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 MRPS28_ARFGEF1


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 MRPS28_ARFGEF1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneMRPS28C1458155Mammary Neoplasms1CTD_human