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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: 11856

FusionGeneSummary for EPS15L1_RFC1

check button Fusion gene summary
Fusion gene informationFusion gene name: EPS15L1_RFC1
Fusion gene ID: 11856
HgeneTgene
Gene symbol

EPS15L1

RFC1

Gene ID

58513

6573

Gene nameepidermal growth factor receptor pathway substrate 15 like 1solute carrier family 19 member 1
SynonymsEPS15RCHMD|FOLT|IFC-1|IFC1|REFC|RFC|RFC1
Cytomap

19p13.11

21q22.3

Type of geneprotein-codingprotein-coding
Descriptionepidermal growth factor receptor substrate 15-like 1epidermal growth factor receptor substrate EPS15Reps15-related proteinfolate transporter 1intestinal folate carrier 1placental folate transporterreduced folate carrier 1reduced folate carrier proteinsolute carrier family 19 (folate transporter), member 1
Modification date2018052220180527
UniProtAcc

Q9UBC2

P35251

Ensembl transtripts involved in fusion geneENST00000455140, ENST00000248070, 
ENST00000535753, ENST00000594975, 
ENST00000602009, ENST00000597937, 
ENST00000349703, ENST00000381897, 
ENST00000418436, 
Fusion gene scores* DoF score15 X 11 X 10=16502 X 2 X 2=8
# samples 182
** MAII scorelog2(18/1650*10)=-3.1963972128035
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(2/8*10)=1.32192809488736
Context

PubMed: EPS15L1 [Title/Abstract] AND RFC1 [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
TgeneRFC1

GO:0098838

folate transmembrane transport

14609557


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
ChiTaRS3.1BF923990EPS15L1chr19

16479383

+RFC1chr4

39306343

+
* 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-intronENST00000455140ENST00000349703EPS15L1chr19

16479383

+RFC1chr4

39306343

+
intron-intronENST00000455140ENST00000381897EPS15L1chr19

16479383

+RFC1chr4

39306343

+
intron-intronENST00000455140ENST00000418436EPS15L1chr19

16479383

+RFC1chr4

39306343

+
intron-intronENST00000248070ENST00000349703EPS15L1chr19

16479383

+RFC1chr4

39306343

+
intron-intronENST00000248070ENST00000381897EPS15L1chr19

16479383

+RFC1chr4

39306343

+
intron-intronENST00000248070ENST00000418436EPS15L1chr19

16479383

+RFC1chr4

39306343

+
intron-intronENST00000535753ENST00000349703EPS15L1chr19

16479383

+RFC1chr4

39306343

+
intron-intronENST00000535753ENST00000381897EPS15L1chr19

16479383

+RFC1chr4

39306343

+
intron-intronENST00000535753ENST00000418436EPS15L1chr19

16479383

+RFC1chr4

39306343

+
intron-intronENST00000594975ENST00000349703EPS15L1chr19

16479383

+RFC1chr4

39306343

+
intron-intronENST00000594975ENST00000381897EPS15L1chr19

16479383

+RFC1chr4

39306343

+
intron-intronENST00000594975ENST00000418436EPS15L1chr19

16479383

+RFC1chr4

39306343

+
intron-intronENST00000602009ENST00000349703EPS15L1chr19

16479383

+RFC1chr4

39306343

+
intron-intronENST00000602009ENST00000381897EPS15L1chr19

16479383

+RFC1chr4

39306343

+
intron-intronENST00000602009ENST00000418436EPS15L1chr19

16479383

+RFC1chr4

39306343

+
intron-intronENST00000597937ENST00000349703EPS15L1chr19

16479383

+RFC1chr4

39306343

+
intron-intronENST00000597937ENST00000381897EPS15L1chr19

16479383

+RFC1chr4

39306343

+
intron-intronENST00000597937ENST00000418436EPS15L1chr19

16479383

+RFC1chr4

39306343

+

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FusionProtFeatures for EPS15L1_RFC1


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
EPS15L1

Q9UBC2

RFC1

P35251

Seems to be a constitutive component of clathrin-coatedpits that is required for receptor-mediated endocytosis. Involvedin endocytosis of integrin beta-1 (ITGB1) and transferrin receptor(TFR); internalization of ITGB1 as DAB2-dependent cargo but notTFR seems to require association with DAB2.{ECO:0000269|PubMed:22648170, ECO:0000269|PubMed:9407958}. The elongation of primed DNA templates by DNA polymerasedelta and epsilon requires the action of the accessory proteinsPCNA and activator 1. This subunit binds to the primer-templatejunction. Binds the PO-B transcription element as well as other GArich DNA sequences. Could play a role in DNA transcriptionregulation as well as DNA replication and/or repair. Can bindsingle- or double-stranded DNA. {ECO:0000269|PubMed:8999859}. Interacts with C-terminus of PCNA. 5' phosphate residueis required for binding of the N-terminal DNA-binding domain toduplex DNA, suggesting a role in recognition of non-primertemplate DNA structures during replication and/or repair.{ECO:0000269|PubMed:8999859}.

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 EPS15L1_RFC1


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 EPS15L1_RFC1


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 EPS15L1_RFC1


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 EPS15L1_RFC1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneRFC1C0001973Alcoholic Intoxication, Chronic1PSYGENET
TgeneRFC1C0009375Colonic Neoplasms1CTD_human
TgeneRFC1C0029463Osteosarcoma1CTD_human