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Fusion gene ID: 31019 |
FusionGeneSummary for RFC1_EHBP1 |
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Fusion gene information | Fusion gene name: RFC1_EHBP1 | Fusion gene ID: 31019 | Hgene | Tgene | Gene symbol | RFC1 | EHBP1 | Gene ID | 6573 | 23301 |
Gene name | solute carrier family 19 member 1 | EH domain binding protein 1 | |
Synonyms | CHMD|FOLT|IFC-1|IFC1|REFC|RFC|RFC1 | HPC12|NACSIN | |
Cytomap | 21q22.3 | 2p15 | |
Type of gene | protein-coding | protein-coding | |
Description | folate transporter 1intestinal folate carrier 1placental folate transporterreduced folate carrier 1reduced folate carrier proteinsolute carrier family 19 (folate transporter), member 1 | EH domain-binding protein 1NPF calponin-like proteintestis tissue sperm-binding protein Li 50e | |
Modification date | 20180527 | 20180519 | |
UniProtAcc | P35251 | Q8NDI1 | |
Ensembl transtripts involved in fusion gene | ENST00000349703, ENST00000381897, ENST00000418436, | ENST00000405015, ENST00000431489, ENST00000354487, ENST00000263991, ENST00000405289, ENST00000496857, | |
Fusion gene scores | * DoF score | 5 X 4 X 5=100 | 7 X 7 X 5=245 |
# samples | 7 | 7 | |
** MAII score | log2(7/100*10)=-0.514573172829758 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(7/245*10)=-1.8073549220576 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
Context | PubMed: RFC1 [Title/Abstract] AND EHBP1 [Title/Abstract] AND fusion [Title/Abstract] | ||
Functional or gene categories assigned by FusionGDB annotation | DDR (DNA damage repair) gene involved fusion gene, retained protein feature but frameshift. |
* 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 |
Hgene | 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 |
TCGA | RV | CESC | TCGA-VS-A8EC-01A | RFC1 | chr4 | 39343965 | - | EHBP1 | chr2 | 63169853 | + |
* 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 |
Frame-shift | ENST00000349703 | ENST00000405015 | RFC1 | chr4 | 39343965 | - | EHBP1 | chr2 | 63169853 | + |
Frame-shift | ENST00000349703 | ENST00000431489 | RFC1 | chr4 | 39343965 | - | EHBP1 | chr2 | 63169853 | + |
Frame-shift | ENST00000349703 | ENST00000354487 | RFC1 | chr4 | 39343965 | - | EHBP1 | chr2 | 63169853 | + |
Frame-shift | ENST00000349703 | ENST00000263991 | RFC1 | chr4 | 39343965 | - | EHBP1 | chr2 | 63169853 | + |
Frame-shift | ENST00000349703 | ENST00000405289 | RFC1 | chr4 | 39343965 | - | EHBP1 | chr2 | 63169853 | + |
5CDS-intron | ENST00000349703 | ENST00000496857 | RFC1 | chr4 | 39343965 | - | EHBP1 | chr2 | 63169853 | + |
Frame-shift | ENST00000381897 | ENST00000405015 | RFC1 | chr4 | 39343965 | - | EHBP1 | chr2 | 63169853 | + |
Frame-shift | ENST00000381897 | ENST00000431489 | RFC1 | chr4 | 39343965 | - | EHBP1 | chr2 | 63169853 | + |
Frame-shift | ENST00000381897 | ENST00000354487 | RFC1 | chr4 | 39343965 | - | EHBP1 | chr2 | 63169853 | + |
Frame-shift | ENST00000381897 | ENST00000263991 | RFC1 | chr4 | 39343965 | - | EHBP1 | chr2 | 63169853 | + |
Frame-shift | ENST00000381897 | ENST00000405289 | RFC1 | chr4 | 39343965 | - | EHBP1 | chr2 | 63169853 | + |
5CDS-intron | ENST00000381897 | ENST00000496857 | RFC1 | chr4 | 39343965 | - | EHBP1 | chr2 | 63169853 | + |
5UTR-3CDS | ENST00000418436 | ENST00000405015 | RFC1 | chr4 | 39343965 | - | EHBP1 | chr2 | 63169853 | + |
5UTR-3CDS | ENST00000418436 | ENST00000431489 | RFC1 | chr4 | 39343965 | - | EHBP1 | chr2 | 63169853 | + |
5UTR-3CDS | ENST00000418436 | ENST00000354487 | RFC1 | chr4 | 39343965 | - | EHBP1 | chr2 | 63169853 | + |
5UTR-3CDS | ENST00000418436 | ENST00000263991 | RFC1 | chr4 | 39343965 | - | EHBP1 | chr2 | 63169853 | + |
5UTR-3CDS | ENST00000418436 | ENST00000405289 | RFC1 | chr4 | 39343965 | - | EHBP1 | chr2 | 63169853 | + |
5UTR-intron | ENST00000418436 | ENST00000496857 | RFC1 | chr4 | 39343965 | - | EHBP1 | chr2 | 63169853 | + |
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FusionProtFeatures for RFC1_EHBP1 |
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Hgene | Tgene |
RFC1 | EHBP1 |
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 RFC1_EHBP1 |
![]() (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 RFC1_EHBP1 |
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Hgene | Hgene's interactors | Tgene | Tgene's interactors |
RFC1 | ATM, BLM, BRCA1, MLH1, MRE11A, MSH2, MSH6, NBN, RAD50, HDAC1, BRD4, PCNA, TP53, RELA, CDK4, CCND1, RB1, XRCC5, RFC3, RAD17, CHTF18, RFC2, RFC4, RFC5, PMS1, SSBP3, ZSCAN1, SAP25, CSNK2B, HDGF, SIRT7, MYOC, LAMP2, RBM14, WDR18, NOTCH1, SMC1A, YWHAQ, RPA1, RPA2, RPA3, SPRTN, NIFK, THBS3, NTRK1, GLYR1, PDS5A, RACGAP1, CDC45, SMC2, SMC4, XRCC6, MUS81, HIST1H2BG, HIST1H3A, DAXX, HNRNPU, EMC2, NOP56, IBTK, C10orf12, NF2, H2AFY2, TEAD2, RRP8, RPL18A, FGF3, UBC, CHEK2, CHEK1 | EHBP1 | EHD2, KHDRBS2, RPAP2, PACSIN1, COPS5, COPS6, IFT57, OFD1, TMEM17, XPO1, CDH1, SOAT1, NDUFS1, ACAP2, TRIM25 |
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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 RFC1_EHBP1 |
![]() (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 RFC1_EHBP1 |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Hgene | RFC1 | C0001973 | Alcoholic Intoxication, Chronic | 1 | PSYGENET |
Hgene | RFC1 | C0009375 | Colonic Neoplasms | 1 | CTD_human |
Hgene | RFC1 | C0029463 | Osteosarcoma | 1 | CTD_human |
Tgene | EHBP1 | C0033578 | Prostatic Neoplasms | 1 | CTD_human |