|
Fusion gene ID: 22564 |
FusionGeneSummary for MRPS28_ARFGEF1 |
Fusion gene summary |
Fusion gene information | Fusion gene name: MRPS28_ARFGEF1 | Fusion gene ID: 22564 | Hgene | Tgene | Gene symbol | MRPS28 | ARFGEF1 | Gene ID | 60488 | 10565 |
Gene name | mitochondrial ribosomal protein S35 | ADP ribosylation factor guanine nucleotide exchange factor 1 | |
Synonyms | HDCMD11P|MDS023|MRP-S28|MRPS28 | ARFGEP1|BIG1|P200 | |
Cytomap | 12p11.22 | 8q13.2 | |
Type of gene | protein-coding | protein-coding | |
Description | 28S ribosomal protein S35, mitochondrial28S ribosomal protein S28, mitochondrialMRP-S35S28mtS35mtmitochondrial ribosomal protein S28mitochondrial small ribosomal subunit protein mS35 | brefeldin A-inhibited guanine nucleotide-exchange protein 1ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited)p200 ARF guanine nucleotide exchange factor | |
Modification date | 20180523 | 20180523 | |
UniProtAcc | Q9Y2Q9 | Q9Y6D6 | |
Ensembl transtripts involved in fusion gene | ENST00000276585, ENST00000521434, ENST00000521605, ENST00000522987, | ENST00000520381, ENST00000262215, ENST00000517955, ENST00000518230, | |
Fusion gene scores | * DoF score | 6 X 1 X 4=24 | 7 X 5 X 3=105 |
# samples | 6 | 7 | |
** MAII score | log2(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) |
Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
Partner | Gene | GO ID | GO term | PubMed ID |
Tgene | ARFGEF1 | GO:0034260 | negative regulation of GTPase activity | 15644318 |
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 type | Source | Cancer type | Sample | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
ChiTaRS3.1 | BP350832 | MRPS28 | chr8 | 80915234 | - | ARFGEF1 | chr8 | 68214701 | - |
* LD: Li Ding group's fusion gene list RV: Roel Verhaak group's fusion gene list ChiTaRs fusion database |
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. |
ORF | Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
5CDS-intron | ENST00000276585 | ENST00000520381 | MRPS28 | chr8 | 80915234 | - | ARFGEF1 | chr8 | 68214701 | - |
5CDS-intron | ENST00000276585 | ENST00000262215 | MRPS28 | chr8 | 80915234 | - | ARFGEF1 | chr8 | 68214701 | - |
5CDS-intron | ENST00000276585 | ENST00000517955 | MRPS28 | chr8 | 80915234 | - | ARFGEF1 | chr8 | 68214701 | - |
5CDS-intron | ENST00000276585 | ENST00000518230 | MRPS28 | chr8 | 80915234 | - | ARFGEF1 | chr8 | 68214701 | - |
5CDS-intron | ENST00000521434 | ENST00000520381 | MRPS28 | chr8 | 80915234 | - | ARFGEF1 | chr8 | 68214701 | - |
5CDS-intron | ENST00000521434 | ENST00000262215 | MRPS28 | chr8 | 80915234 | - | ARFGEF1 | chr8 | 68214701 | - |
5CDS-intron | ENST00000521434 | ENST00000517955 | MRPS28 | chr8 | 80915234 | - | ARFGEF1 | chr8 | 68214701 | - |
5CDS-intron | ENST00000521434 | ENST00000518230 | MRPS28 | chr8 | 80915234 | - | ARFGEF1 | chr8 | 68214701 | - |
intron-intron | ENST00000521605 | ENST00000520381 | MRPS28 | chr8 | 80915234 | - | ARFGEF1 | chr8 | 68214701 | - |
intron-intron | ENST00000521605 | ENST00000262215 | MRPS28 | chr8 | 80915234 | - | ARFGEF1 | chr8 | 68214701 | - |
intron-intron | ENST00000521605 | ENST00000517955 | MRPS28 | chr8 | 80915234 | - | ARFGEF1 | chr8 | 68214701 | - |
intron-intron | ENST00000521605 | ENST00000518230 | MRPS28 | chr8 | 80915234 | - | ARFGEF1 | chr8 | 68214701 | - |
5UTR-intron | ENST00000522987 | ENST00000520381 | MRPS28 | chr8 | 80915234 | - | ARFGEF1 | chr8 | 68214701 | - |
5UTR-intron | ENST00000522987 | ENST00000262215 | MRPS28 | chr8 | 80915234 | - | ARFGEF1 | chr8 | 68214701 | - |
5UTR-intron | ENST00000522987 | ENST00000517955 | MRPS28 | chr8 | 80915234 | - | ARFGEF1 | chr8 | 68214701 | - |
5UTR-intron | ENST00000522987 | ENST00000518230 | MRPS28 | chr8 | 80915234 | - | ARFGEF1 | chr8 | 68214701 | - |
Top |
FusionProtFeatures for MRPS28_ARFGEF1 |
Main function of each fusion partner protein. (from UniProt) |
Hgene | Tgene |
MRPS28 | ARFGEF1 |
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}. |
Retention 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 . * 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 |
Top |
FusionGeneSequence for MRPS28_ARFGEF1 |
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). |
Top |
FusionGenePPI for MRPS28_ARFGEF1 |
Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in . |
Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160) |
Hgene | Hgene's interactors | Tgene | Tgene's interactors |
MRPS28 | ICT1, 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, CFAP20 | ARFGEF1 | FKBP2, PRKAR1A, ARFGEF2, DPY30, NCL, FBL, NUP62, SSB, EGFR, SPINT2, CSGALNACT1, PVRIG, HLA-B, CD244, SLAMF1, TBC1D22A, ALDH3A2, TCL1B, NTRK1, SIGLECL1, EDNRB, LAMP3, NPY2R, BRCA1 |
- Retained PPIs in in-frame fusion. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
- Lost PPIs in in-frame fusion. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
- Retained PPIs, but lost function due to frame-shift fusion. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
Top |
RelatedDrugs for MRPS28_ARFGEF1 |
Drugs targeting genes involved in this fusion gene. (DrugBank Version 5.1.0 2018-04-02) |
Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
Top |
RelatedDiseases for MRPS28_ARFGEF1 |
Diseases associated with fusion partners. (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Hgene | MRPS28 | C1458155 | Mammary Neoplasms | 1 | CTD_human |