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Fusion gene ID: 11856 |
FusionGeneSummary for EPS15L1_RFC1 |
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Fusion gene information | Fusion gene name: EPS15L1_RFC1 | Fusion gene ID: 11856 | Hgene | Tgene | Gene symbol | EPS15L1 | RFC1 | Gene ID | 58513 | 6573 |
Gene name | epidermal growth factor receptor pathway substrate 15 like 1 | solute carrier family 19 member 1 | |
Synonyms | EPS15R | CHMD|FOLT|IFC-1|IFC1|REFC|RFC|RFC1 | |
Cytomap | 19p13.11 | 21q22.3 | |
Type of gene | protein-coding | protein-coding | |
Description | epidermal growth factor receptor substrate 15-like 1epidermal growth factor receptor substrate EPS15Reps15-related protein | folate transporter 1intestinal folate carrier 1placental folate transporterreduced folate carrier 1reduced folate carrier proteinsolute carrier family 19 (folate transporter), member 1 | |
Modification date | 20180522 | 20180527 | |
UniProtAcc | Q9UBC2 | P35251 | |
Ensembl transtripts involved in fusion gene | ENST00000455140, ENST00000248070, ENST00000535753, ENST00000594975, ENST00000602009, ENST00000597937, | ENST00000349703, ENST00000381897, ENST00000418436, | |
Fusion gene scores | * DoF score | 15 X 11 X 10=1650 | 2 X 2 X 2=8 |
# samples | 18 | 2 | |
** MAII score | log2(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) |
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Partner | Gene | GO ID | GO term | PubMed ID |
Tgene | RFC1 | GO:0098838 | folate transmembrane transport | 14609557 |
![]() (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 | BF923990 | EPS15L1 | chr19 | 16479383 | + | RFC1 | chr4 | 39306343 | + |
* LD: Li Ding group's fusion gene list RV: Roel Verhaak group's fusion gene list ChiTaRs fusion database |
![]() * 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 |
intron-intron | ENST00000455140 | ENST00000349703 | EPS15L1 | chr19 | 16479383 | + | RFC1 | chr4 | 39306343 | + |
intron-intron | ENST00000455140 | ENST00000381897 | EPS15L1 | chr19 | 16479383 | + | RFC1 | chr4 | 39306343 | + |
intron-intron | ENST00000455140 | ENST00000418436 | EPS15L1 | chr19 | 16479383 | + | RFC1 | chr4 | 39306343 | + |
intron-intron | ENST00000248070 | ENST00000349703 | EPS15L1 | chr19 | 16479383 | + | RFC1 | chr4 | 39306343 | + |
intron-intron | ENST00000248070 | ENST00000381897 | EPS15L1 | chr19 | 16479383 | + | RFC1 | chr4 | 39306343 | + |
intron-intron | ENST00000248070 | ENST00000418436 | EPS15L1 | chr19 | 16479383 | + | RFC1 | chr4 | 39306343 | + |
intron-intron | ENST00000535753 | ENST00000349703 | EPS15L1 | chr19 | 16479383 | + | RFC1 | chr4 | 39306343 | + |
intron-intron | ENST00000535753 | ENST00000381897 | EPS15L1 | chr19 | 16479383 | + | RFC1 | chr4 | 39306343 | + |
intron-intron | ENST00000535753 | ENST00000418436 | EPS15L1 | chr19 | 16479383 | + | RFC1 | chr4 | 39306343 | + |
intron-intron | ENST00000594975 | ENST00000349703 | EPS15L1 | chr19 | 16479383 | + | RFC1 | chr4 | 39306343 | + |
intron-intron | ENST00000594975 | ENST00000381897 | EPS15L1 | chr19 | 16479383 | + | RFC1 | chr4 | 39306343 | + |
intron-intron | ENST00000594975 | ENST00000418436 | EPS15L1 | chr19 | 16479383 | + | RFC1 | chr4 | 39306343 | + |
intron-intron | ENST00000602009 | ENST00000349703 | EPS15L1 | chr19 | 16479383 | + | RFC1 | chr4 | 39306343 | + |
intron-intron | ENST00000602009 | ENST00000381897 | EPS15L1 | chr19 | 16479383 | + | RFC1 | chr4 | 39306343 | + |
intron-intron | ENST00000602009 | ENST00000418436 | EPS15L1 | chr19 | 16479383 | + | RFC1 | chr4 | 39306343 | + |
intron-intron | ENST00000597937 | ENST00000349703 | EPS15L1 | chr19 | 16479383 | + | RFC1 | chr4 | 39306343 | + |
intron-intron | ENST00000597937 | ENST00000381897 | EPS15L1 | chr19 | 16479383 | + | RFC1 | chr4 | 39306343 | + |
intron-intron | ENST00000597937 | ENST00000418436 | EPS15L1 | chr19 | 16479383 | + | RFC1 | chr4 | 39306343 | + |
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FusionProtFeatures for EPS15L1_RFC1 |
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Hgene | Tgene |
EPS15L1 | RFC1 |
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}. |
![]() * 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 |
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FusionGeneSequence for EPS15L1_RFC1 |
![]() (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 |
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Hgene | Hgene's interactors | Tgene | Tgene's interactors |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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RelatedDrugs for EPS15L1_RFC1 |
![]() (DrugBank Version 5.1.0 2018-04-02) |
Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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RelatedDiseases for EPS15L1_RFC1 |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Tgene | RFC1 | C0001973 | Alcoholic Intoxication, Chronic | 1 | PSYGENET |
Tgene | RFC1 | C0009375 | Colonic Neoplasms | 1 | CTD_human |
Tgene | RFC1 | C0029463 | Osteosarcoma | 1 | CTD_human |