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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: 31975

FusionGeneSummary for RPL8_TM9SF4

check button Fusion gene summary
Fusion gene informationFusion gene name: RPL8_TM9SF4
Fusion gene ID: 31975
HgeneTgene
Gene symbol

RPL8

TM9SF4

Gene ID

6132

9777

Gene nameribosomal protein L8transmembrane 9 superfamily member 4
SynonymsL8dJ836N17.2
Cytomap

8q24.3

20q11.21

Type of geneprotein-codingprotein-coding
Description60S ribosomal protein L8large ribosomal subunit protein uL2transmembrane 9 superfamily member 4dinucleotide oxidase disulfide thiol exchanger 3 superfamily member 4transmembrane 9 superfamily protein member 4tumor cannibalism associated protein 1
Modification date2018052320180529
UniProtAcc

P62917

Q92544

Ensembl transtripts involved in fusion geneENST00000529163, ENST00000394920, 
ENST00000527914, ENST00000262584, 
ENST00000528957, 
ENST00000398022, 
ENST00000217315, 
Fusion gene scores* DoF score15 X 6 X 8=7206 X 4 X 6=144
# samples 158
** MAII scorelog2(15/720*10)=-2.26303440583379
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(8/144*10)=-0.84799690655495
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: RPL8 [Title/Abstract] AND TM9SF4 [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
HgeneRPL8

GO:0002181

cytoplasmic translation

25957688

TgeneTM9SF4

GO:0001666

response to hypoxia

25961573


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
ChiTaRS3.1CV366110RPL8chr8

146015323

-TM9SF4chr20

30729302

+
* 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
intron-3CDSENST00000529163ENST00000398022RPL8chr8

146015323

-TM9SF4chr20

30729302

+
intron-3CDSENST00000529163ENST00000217315RPL8chr8

146015323

-TM9SF4chr20

30729302

+
intron-3CDSENST00000394920ENST00000398022RPL8chr8

146015323

-TM9SF4chr20

30729302

+
intron-3CDSENST00000394920ENST00000217315RPL8chr8

146015323

-TM9SF4chr20

30729302

+
intron-3CDSENST00000527914ENST00000398022RPL8chr8

146015323

-TM9SF4chr20

30729302

+
intron-3CDSENST00000527914ENST00000217315RPL8chr8

146015323

-TM9SF4chr20

30729302

+
intron-3CDSENST00000262584ENST00000398022RPL8chr8

146015323

-TM9SF4chr20

30729302

+
intron-3CDSENST00000262584ENST00000217315RPL8chr8

146015323

-TM9SF4chr20

30729302

+
intron-3CDSENST00000528957ENST00000398022RPL8chr8

146015323

-TM9SF4chr20

30729302

+
intron-3CDSENST00000528957ENST00000217315RPL8chr8

146015323

-TM9SF4chr20

30729302

+

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FusionProtFeatures for RPL8_TM9SF4


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
RPL8

P62917

TM9SF4

Q92544

Component of the large ribosomal subunit.{ECO:0000305|PubMed:12962325}. Associates with proteins harboring glycine-richtransmembrane domains and ensures their efficient localization tothe cell surface (PubMed:25999474). Regulates the assembly andactivity of V-ATPase in colon cancer cells via its interactionwith V-type proton ATPase subunit H (ATP6V1H) and contributes toV-ATPase-mediated pH alterations in cancer cells which play animportant role in drug resistance and invasiveness of colon cancercells (PubMed:25659576). Plays an important role in an atypicalphagocytic activity of metastatic melanoma cells calledcannibalism and is involved in the pH regulation of theintracellular vesicles in tumor cells (PubMed:19893578).{ECO:0000269|PubMed:19893578, ECO:0000269|PubMed:25659576,ECO:0000269|PubMed:25999474}.

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 RPL8_TM9SF4


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 RPL8_TM9SF4


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 RPL8_TM9SF4


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 RPL8_TM9SF4


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