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Fusion gene ID: 34485 |
FusionGeneSummary for SLC40A1_BCCIP |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: SLC40A1_BCCIP | Fusion gene ID: 34485 | Hgene | Tgene | Gene symbol | SLC40A1 | BCCIP | Gene ID | 30061 | 56647 |
| Gene name | solute carrier family 40 member 1 | BRCA2 and CDKN1A interacting protein | |
| Synonyms | FPN1|HFE4|IREG1|MST079|MSTP079|MTP1|SLC11A3 | TOK-1|TOK1 | |
| Cytomap | 2q32.2 | 10q26.2 | |
| Type of gene | protein-coding | protein-coding | |
| Description | solute carrier family 40 member 1iron regulated gene 1solute carrier family 11 (proton-coupled divalent metal ion transporters), member 3solute carrier family 40 (iron-regulated transporter), member 1 | BRCA2 and CDKN1A-interacting proteinBCCIPalphaBCCIPbetaBRCA2 and Cip1/p21 interacting proteinTOK-1alphaTOK-1betacdk inhibitor p21 binding proteinp21- and CDK-associated protein 1protein TOK-1 | |
| Modification date | 20180527 | 20180523 | |
| UniProtAcc | Q9NP59 | Q9P287 | |
| Ensembl transtripts involved in fusion gene | ENST00000261024, ENST00000418714, | ENST00000368759, ENST00000278100, ENST00000429863, ENST00000299130, ENST00000478798, | |
| Fusion gene scores | * DoF score | 2 X 2 X 2=8 | 2 X 2 X 1=4 |
| # samples | 2 | 2 | |
| ** MAII score | log2(2/8*10)=1.32192809488736 | log2(2/4*10)=2.32192809488736 | |
| Context | PubMed: SLC40A1 [Title/Abstract] AND BCCIP [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) |
| Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
| Partner | Gene | GO ID | GO term | PubMed ID |
| Tgene | BCCIP | GO:0000079 | regulation of cyclin-dependent protein serine/threonine kinase activity | 10878006 |
| Tgene | BCCIP | GO:0061101 | neuroendocrine cell differentiation | 18440304 |
| 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 type | Source | Cancer type | Sample | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
| ChiTaRS3.1 | BU676833 | SLC40A1 | chr2 | 190426715 | + | BCCIP | chr10 | 127530449 | - |
| * LD: Li Ding group's fusion gene list RV: Roel Verhaak group's fusion gene list ChiTaRs fusion database |
| 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. |
| ORF | Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
| intron-intron | ENST00000261024 | ENST00000368759 | SLC40A1 | chr2 | 190426715 | + | BCCIP | chr10 | 127530449 | - |
| intron-intron | ENST00000261024 | ENST00000278100 | SLC40A1 | chr2 | 190426715 | + | BCCIP | chr10 | 127530449 | - |
| intron-3UTR | ENST00000261024 | ENST00000429863 | SLC40A1 | chr2 | 190426715 | + | BCCIP | chr10 | 127530449 | - |
| intron-3UTR | ENST00000261024 | ENST00000299130 | SLC40A1 | chr2 | 190426715 | + | BCCIP | chr10 | 127530449 | - |
| intron-intron | ENST00000261024 | ENST00000478798 | SLC40A1 | chr2 | 190426715 | + | BCCIP | chr10 | 127530449 | - |
| intron-intron | ENST00000418714 | ENST00000368759 | SLC40A1 | chr2 | 190426715 | + | BCCIP | chr10 | 127530449 | - |
| intron-intron | ENST00000418714 | ENST00000278100 | SLC40A1 | chr2 | 190426715 | + | BCCIP | chr10 | 127530449 | - |
| intron-3UTR | ENST00000418714 | ENST00000429863 | SLC40A1 | chr2 | 190426715 | + | BCCIP | chr10 | 127530449 | - |
| intron-3UTR | ENST00000418714 | ENST00000299130 | SLC40A1 | chr2 | 190426715 | + | BCCIP | chr10 | 127530449 | - |
| intron-intron | ENST00000418714 | ENST00000478798 | SLC40A1 | chr2 | 190426715 | + | BCCIP | chr10 | 127530449 | - |
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FusionProtFeatures for SLC40A1_BCCIP |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| SLC40A1 | BCCIP |
| May be involved in iron export from duodenal epithelialcell and also in transfer of iron between maternal and fetalcirculation. Mediates iron efflux in the presence of a ferroxidase(hephaestin and/or ceruloplasmin). | During interphase, required for microtubule organizingand anchoring activities. During mitosis, required for theorganization and stabilization of the spindle pole(PubMed:28394342). Isoform 2/alpha is particularly important forthe regulation of microtubule anchoring, microtubule stability,spindle architecture and spindle orientation, compared to isoform1/beta (PubMed:28394342). May promote cell cycle arrest byenhancing the inhibition of CDK2 activity by CDKN1A. May berequired for repair of DNA damage by homologous recombination inconjunction with BRCA2. May not be involved in non-homologous endjoining (NHEJ). {ECO:0000269|PubMed:10878006,ECO:0000269|PubMed:14726710, ECO:0000269|PubMed:15539944,ECO:0000269|PubMed:15713648, ECO:0000269|PubMed:17947333,ECO:0000269|PubMed:28394342}. |
| Retention 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 . * 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 SLC40A1_BCCIP |
| 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 SLC40A1_BCCIP |
| Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in . |
| Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160) |
| Hgene | Hgene's interactors | Tgene | Tgene's interactors |
| - Retained PPIs in in-frame fusion. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
| - Lost PPIs in in-frame fusion. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
| - Retained PPIs, but lost function due to frame-shift fusion. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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RelatedDrugs for SLC40A1_BCCIP |
| Drugs targeting genes involved in this fusion gene. (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 SLC40A1_BCCIP |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | SLC40A1 | C1853733 | HEMOCHROMATOSIS, TYPE 4 | 7 | CTD_human;ORPHANET;UNIPROT |
| Hgene | SLC40A1 | C0018995 | Hemochromatosis | 2 | CTD_human |
| Hgene | SLC40A1 | C0002871 | Anemia | 1 | CTD_human |
| Hgene | SLC40A1 | C0004352 | Autistic Disorder | 1 | CTD_human |
| Hgene | SLC40A1 | C0007621 | Neoplastic Cell Transformation | 1 | CTD_human |
| Hgene | SLC40A1 | C0014175 | Endometriosis | 1 | CTD_human |
| Hgene | SLC40A1 | C0019054 | Hemolysis (disorder) | 1 | CTD_human |
| Hgene | SLC40A1 | C0023903 | Liver neoplasms | 1 | CTD_human |
| Hgene | SLC40A1 | C0282193 | Iron Overload | 1 | CTD_human |
| Hgene | SLC40A1 | C2931082 | Familial apoceruloplasmin deficiency | 1 | CTD_human |
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