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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: 12824

FusionGeneSummary for FAM50A_RPL5

check button Fusion gene summary
Fusion gene informationFusion gene name: FAM50A_RPL5
Fusion gene ID: 12824
HgeneTgene
Gene symbol

FAM50A

RPL5

Gene ID

9130

6125

Gene namefamily with sequence similarity 50 member Aribosomal protein L5
Synonyms9F|DXS9928E|HXC-26|HXC26|XAP5L5|MSTP030|PPP1R135|uL18
Cytomap

Xq28

1p22.1

Type of geneprotein-codingprotein-coding
Descriptionprotein FAM50Aprotein XAP-560S ribosomal protein L5large ribosomal subunit protein uL18protein phosphatase 1, regulatory subunit 135
Modification date2018051920180523
UniProtAcc

Q14320

P46777

Ensembl transtripts involved in fusion geneENST00000393600, ENST00000370321, 
Fusion gene scores* DoF score4 X 4 X 1=164 X 4 X 3=48
# samples 45
** MAII scorelog2(4/16*10)=1.32192809488736
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
log2(5/48*10)=0.0588936890535686
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: FAM50A [Title/Abstract] AND RPL5 [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
TgeneRPL5

GO:0010628

positive regulation of gene expression

18560357

TgeneRPL5

GO:0045727

positive regulation of translation

16213212

TgeneRPL5

GO:1904667

negative regulation of ubiquitin protein ligase activity

18560357

TgeneRPL5

GO:2000059

negative regulation of ubiquitin-dependent protein catabolic process

18560357

TgeneRPL5

GO:2000435

negative regulation of protein neddylation

18560357


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
ChiTaRS3.1EL584993FAM50AchrX

153674180

-RPL5chr1

93301795

-
* 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
Frame-shitENST00000393600ENST00000370321FAM50AchrX

153674180

-RPL5chr1

93301795

-

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FusionProtFeatures for FAM50A_RPL5


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
FAM50A

Q14320

RPL5

P46777

May be a DNA-binding protein or transcriptional factor.{ECO:0000269|PubMed:9339379}. Component of the ribosome, a large ribonucleoproteincomplex responsible for the synthesis of proteins in the cell. Thesmall ribosomal subunit (SSU) binds messenger RNAs (mRNAs) andtranslates the encoded message by selecting cognate aminoacyl-transfer RNA (tRNA) molecules. The large subunit (LSU) containsthe ribosomal catalytic site termed the peptidyl transferasecenter (PTC), which catalyzes the formation of peptide bonds,thereby polymerizing the amino acids delivered by tRNAs into apolypeptide chain. The nascent polypeptides leave the ribosomethrough a tunnel in the LSU and interact with protein factors thatfunction in enzymatic processing, targeting, and the membraneinsertion of nascent chains at the exit of the ribosomal tunnel.As part of the 5S RNP/5S ribonucleoprotein particle it is anessential component of the LSU, required for its formation and thematuration of rRNAs (PubMed:12962325, PubMed:19061985,PubMed:24120868, PubMed:23636399). It also couples ribosomebiogenesis to p53/TP53 activation. As part of the 5S RNP itaccumulates in the nucleoplasm and inhibits MDM2, when ribosomebiogenesis is perturbed, mediating the stabilization and theactivation of TP53 (PubMed:24120868).{ECO:0000269|PubMed:12962325, ECO:0000269|PubMed:19061985,ECO:0000269|PubMed:23636399, ECO:0000269|PubMed:24120868}.

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 FAM50A_RPL5


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 FAM50A_RPL5


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 FAM50A_RPL5


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 FAM50A_RPL5


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneRPL5C2931850Aase Smith syndrome 22CTD_human;UNIPROT
TgeneRPL5C0029927Ovarian Cysts1CTD_human
TgeneRPL5C1961099Precursor T-Cell Lymphoblastic Leukemia-Lymphoma1CTD_human