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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: 10956

FusionGeneSummary for EEF1A1_PMS1

check button Fusion gene summary
Fusion gene informationFusion gene name: EEF1A1_PMS1
Fusion gene ID: 10956
HgeneTgene
Gene symbol

EEF1A1

PMS1

Gene ID

1915

5378

Gene nameeukaryotic translation elongation factor 1 alpha 1PMS1 homolog 1, mismatch repair system component
SynonymsCCS-3|CCS3|EE1A1|EEF-1|EEF1A|EF-Tu|EF1A|GRAF-1EF|HNGC:16303|LENG7|PTI1|eEF1A-1HNPCC3|MLH2|PMSL1|hPMS1
Cytomap

6q13

2q32.2

Type of geneprotein-codingprotein-coding
Descriptionelongation factor 1-alpha 1CTCL tumor antigenEF-1-alpha-1EF1a-like proteincervical cancer suppressor 3elongation factor 1 alpha subunitelongation factor Tueukaryotic elongation factor 1 A-1eukaryotic translation elongation factor 1 alpha 1-like 14PMS1 protein homolog 1DNA mismatch repair protein PMS1PMS1 postmeiotic segregation increased 1human homolog of yeast mutLmismatch repair gene PMSL1rhabdomyosarcoma antigen MU-RMS-40.10Brhabdomyosarcoma antigen MU-RMS-40.10E
Modification date2018052320180523
UniProtAcc

P68104

P54277

Ensembl transtripts involved in fusion geneENST00000316292, ENST00000491404, 
ENST00000309268, ENST00000331523, 
ENST00000441310, ENST00000418224, 
ENST00000409823, ENST00000421722, 
ENST00000447232, ENST00000432292, 
ENST00000409985, ENST00000374826, 
Fusion gene scores* DoF score6 X 6 X 2=726 X 4 X 5=120
# samples 66
** MAII scorelog2(6/72*10)=-0.263034405833794
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(6/120*10)=-1
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: EEF1A1 [Title/Abstract] AND PMS1 [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
HgeneEEF1A1

GO:0071364

cellular response to epidermal growth factor stimulus

9852145


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
ChiTaRS3.1AY540750EEF1A1chr6

74227955

-PMS1chr2

190708702

+
* 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-3CDSENST00000316292ENST00000441310EEF1A1chr6

74227955

-PMS1chr2

190708702

+
intron-3CDSENST00000316292ENST00000418224EEF1A1chr6

74227955

-PMS1chr2

190708702

+
intron-intronENST00000316292ENST00000409823EEF1A1chr6

74227955

-PMS1chr2

190708702

+
intron-intronENST00000316292ENST00000421722EEF1A1chr6

74227955

-PMS1chr2

190708702

+
intron-intronENST00000316292ENST00000447232EEF1A1chr6

74227955

-PMS1chr2

190708702

+
intron-intronENST00000316292ENST00000432292EEF1A1chr6

74227955

-PMS1chr2

190708702

+
intron-intronENST00000316292ENST00000409985EEF1A1chr6

74227955

-PMS1chr2

190708702

+
intron-intronENST00000316292ENST00000374826EEF1A1chr6

74227955

-PMS1chr2

190708702

+
intron-3CDSENST00000491404ENST00000441310EEF1A1chr6

74227955

-PMS1chr2

190708702

+
intron-3CDSENST00000491404ENST00000418224EEF1A1chr6

74227955

-PMS1chr2

190708702

+
intron-intronENST00000491404ENST00000409823EEF1A1chr6

74227955

-PMS1chr2

190708702

+
intron-intronENST00000491404ENST00000421722EEF1A1chr6

74227955

-PMS1chr2

190708702

+
intron-intronENST00000491404ENST00000447232EEF1A1chr6

74227955

-PMS1chr2

190708702

+
intron-intronENST00000491404ENST00000432292EEF1A1chr6

74227955

-PMS1chr2

190708702

+
intron-intronENST00000491404ENST00000409985EEF1A1chr6

74227955

-PMS1chr2

190708702

+
intron-intronENST00000491404ENST00000374826EEF1A1chr6

74227955

-PMS1chr2

190708702

+
intron-3CDSENST00000309268ENST00000441310EEF1A1chr6

74227955

-PMS1chr2

190708702

+
intron-3CDSENST00000309268ENST00000418224EEF1A1chr6

74227955

-PMS1chr2

190708702

+
intron-intronENST00000309268ENST00000409823EEF1A1chr6

74227955

-PMS1chr2

190708702

+
intron-intronENST00000309268ENST00000421722EEF1A1chr6

74227955

-PMS1chr2

190708702

+
intron-intronENST00000309268ENST00000447232EEF1A1chr6

74227955

-PMS1chr2

190708702

+
intron-intronENST00000309268ENST00000432292EEF1A1chr6

74227955

-PMS1chr2

190708702

+
intron-intronENST00000309268ENST00000409985EEF1A1chr6

74227955

-PMS1chr2

190708702

+
intron-intronENST00000309268ENST00000374826EEF1A1chr6

74227955

-PMS1chr2

190708702

+
intron-3CDSENST00000331523ENST00000441310EEF1A1chr6

74227955

-PMS1chr2

190708702

+
intron-3CDSENST00000331523ENST00000418224EEF1A1chr6

74227955

-PMS1chr2

190708702

+
intron-intronENST00000331523ENST00000409823EEF1A1chr6

74227955

-PMS1chr2

190708702

+
intron-intronENST00000331523ENST00000421722EEF1A1chr6

74227955

-PMS1chr2

190708702

+
intron-intronENST00000331523ENST00000447232EEF1A1chr6

74227955

-PMS1chr2

190708702

+
intron-intronENST00000331523ENST00000432292EEF1A1chr6

74227955

-PMS1chr2

190708702

+
intron-intronENST00000331523ENST00000409985EEF1A1chr6

74227955

-PMS1chr2

190708702

+
intron-intronENST00000331523ENST00000374826EEF1A1chr6

74227955

-PMS1chr2

190708702

+

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FusionProtFeatures for EEF1A1_PMS1


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
EEF1A1

P68104

PMS1

P54277

This protein promotes the GTP-dependent binding ofaminoacyl-tRNA to the A-site of ribosomes during proteinbiosynthesis. With PARP1 and TXK, forms a complex that acts as a Thelper 1 (Th1) cell-specific transcription factor and binds thepromoter of IFN-gamma to directly regulate its transcription, andis thus involved importantly in Th1 cytokine production.{ECO:0000269|PubMed:17177976}. Probably involved in the repair of mismatches in DNA.{ECO:0000269|PubMed:10748105}.

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 EEF1A1_PMS1


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 EEF1A1_PMS1


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 EEF1A1_PMS1


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
HgeneEEF1A1P68104DB01593ZincElongation factor 1-alpha 1small moleculeapproved|investigational
HgeneEEF1A1P68104DB11638ArtenimolElongation factor 1-alpha 1small moleculeapproved|investigational

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RelatedDiseases for EEF1A1_PMS1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneEEF1A1C0024667Animal Mammary Neoplasms1CTD_human
HgeneEEF1A1C0024668Mammary Neoplasms, Experimental1CTD_human
HgeneEEF1A1C0038356Stomach Neoplasms1CTD_human