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Fusion gene ID: 34224 |
FusionGeneSummary for SLC25A33_APIP |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: SLC25A33_APIP | Fusion gene ID: 34224 | Hgene | Tgene | Gene symbol | SLC25A33 | APIP | Gene ID | 84275 | 51074 |
| Gene name | solute carrier family 25 member 33 | APAF1 interacting protein | |
| Synonyms | BMSC-MCP|PNC1 | APIP2|CGI-29|CGI29|MMRP19|hAPIP | |
| Cytomap | 1p36.22 | 11p13 | |
| Type of gene | protein-coding | protein-coding | |
| Description | solute carrier family 25 member 33PNC1 proteinbone marrow stromal cell mitochondrial carrier proteinhuBMSC-MCPmitochondrial carrier proteinnovel mitochondrial carrier proteinsolute carrier family 25 (pyrimidine nucleotide carrier), member 33 | methylthioribulose-1-phosphate dehydrataseMTRu-1-P dehydrataseprobable methylthioribulose-1-phosphate dehydratase | |
| Modification date | 20180523 | 20180523 | |
| UniProtAcc | Q9BSK2 | Q96GX9 | |
| Ensembl transtripts involved in fusion gene | ENST00000302692, | ENST00000278359, ENST00000395787, ENST00000527830, | |
| Fusion gene scores | * DoF score | 1 X 1 X 1=1 | 2 X 2 X 3=12 |
| # samples | 1 | 3 | |
| ** MAII score | log2(1/1*10)=3.32192809488736 | log2(3/12*10)=1.32192809488736 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | |
| Context | PubMed: SLC25A33 [Title/Abstract] AND APIP [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 |
| Hgene | SLC25A33 | GO:0000002 | mitochondrial genome maintenance | 25320081 |
| Hgene | SLC25A33 | GO:0006864 | pyrimidine nucleotide transport | 25320081 |
| Hgene | SLC25A33 | GO:0007005 | mitochondrion organization | 25320081 |
| Hgene | SLC25A33 | GO:0032869 | cellular response to insulin stimulus | 17596519 |
| Hgene | SLC25A33 | GO:0051881 | regulation of mitochondrial membrane potential | 25320081 |
| Hgene | SLC25A33 | GO:1990314 | cellular response to insulin-like growth factor stimulus | 17596519 |
| Tgene | APIP | GO:0051289 | protein homotetramerization | 24367089 |
| 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 |
| TCGA | LD | COAD | TCGA-AY-5543-01A | SLC25A33 | chr1 | 9613863 | + | APIP | chr11 | 34905051 | - |
| * 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 |
| In-frame | ENST00000302692 | ENST00000278359 | SLC25A33 | chr1 | 9613863 | + | APIP | chr11 | 34905051 | - |
| In-frame | ENST00000302692 | ENST00000395787 | SLC25A33 | chr1 | 9613863 | + | APIP | chr11 | 34905051 | - |
| 5CDS-5UTR | ENST00000302692 | ENST00000527830 | SLC25A33 | chr1 | 9613863 | + | APIP | chr11 | 34905051 | - |
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FusionProtFeatures for SLC25A33_APIP |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| SLC25A33 | APIP |
| Mitochondrial transporter that imports/exportspyrimidine nucleotides into and from mitochondria(PubMed:25320081). Transports preferentially uracil, thymine, andcytosine (deoxy)nucleoside di- and triphosphates by an antiportmechanism (PubMed:25320081). Also transports guanine but notadenine (deoxy)nucleotides (PubMed:25320081). Is inhibitedstrongly by pyridoxal 5'-phosphate, 4,7-diphenyl-1,10-phenanthroline, tannic acid, and mercurials (mercury dichloride,mersalyl acid, p-hydroxymercuribenzoate) (PubMed:25320081).Participates in mitochondrial genome maintenance, regulation ofmitochondrial membrane potential and mitochondrial respiration(PubMed:20453889). Upon INS or IGF1 stimulation regulates cellgrowth and proliferation by controlling mitochondrial DNAreplication and transcription, the ratio of mitochondria-tonuclear-encoded components of the electron transport chainresulting in control of mitochondrial ROS production(PubMed:20453889, PubMed:17596519). Participates in dendritic cellendocytosis and may associate with mitochondrial oxidativephosphorylation (PubMed:14715278). {ECO:0000269|PubMed:14715278,ECO:0000269|PubMed:17596519, ECO:0000269|PubMed:20453889,ECO:0000269|PubMed:25320081}. | Catalyzes the dehydration of methylthioribulose-1-phosphate (MTRu-1-P) into 2,3-diketo-5-methylthiopentyl-1-phosphate (DK-MTP-1-P). Functions in the methionine salvagepathway, which plays a key role in cancer, apoptosis, microbialproliferation and inflammation. May inhibit the CASP1-relatedinflammatory response (pyroptosis), the CASP9-dependent apoptoticpathway and the cytochrome c-dependent and APAF1-mediated celldeath. {ECO:0000255|HAMAP-Rule:MF_03116,ECO:0000269|PubMed:15262985, ECO:0000269|PubMed:22837397,ECO:0000269|PubMed:23285211, ECO:0000269|PubMed:24367089}. |
| 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 |
| Hgene | SLC25A33 | chr1:9613863 | chr11:34905051 | ENST00000302692 | + | 2 | 7 | 12_32 | 78 | 322 | Transmembrane | Helical%3B Name%3D1 |
| Hgene | SLC25A33 | chr1:9613863 | chr11:34905051 | ENST00000302692 | + | 2 | 7 | 49_65 | 78 | 322 | Transmembrane | Helical%3B Name%3D2 |
| - 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 |
| Hgene | >SLC25A33 | chr1:9613863 | chr11:34905051 | ENST00000302692 | + | 2 | 7 | 126_213 | 78 | 322 | Repeat | Note=Solcar 2 |
| Hgene | >SLC25A33 | chr1:9613863 | chr11:34905051 | ENST00000302692 | + | 2 | 7 | 231_315 | 78 | 322 | Repeat | Note=Solcar 3 |
| Hgene | >SLC25A33 | chr1:9613863 | chr11:34905051 | ENST00000302692 | + | 2 | 7 | 9_118 | 78 | 322 | Repeat | Note=Solcar 1 |
| Hgene | >SLC25A33 | chr1:9613863 | chr11:34905051 | ENST00000302692 | + | 2 | 7 | 121_141 | 78 | 322 | Transmembrane | Helical%3B Name%3D3 |
| Hgene | >SLC25A33 | chr1:9613863 | chr11:34905051 | ENST00000302692 | + | 2 | 7 | 190_210 | 78 | 322 | Transmembrane | Helical%3B Name%3D4 |
| Hgene | >SLC25A33 | chr1:9613863 | chr11:34905051 | ENST00000302692 | + | 2 | 7 | 233_253 | 78 | 322 | Transmembrane | Helical%3B Name%3D5 |
| Hgene | >SLC25A33 | chr1:9613863 | chr11:34905051 | ENST00000302692 | + | 2 | 7 | 298_318 | 78 | 322 | Transmembrane | Helical%3B Name%3D6 |
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FusionGeneSequence for SLC25A33_APIP |
| 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. |
| >In-frame_SLC25A33_ENST00000302692_chr1_9613863_+_APIP_ENST00000278359_chr11_34905051_-_168aa MATGGQQKENTLLHLFAGGCGGTVGAIFTCPLEVIKTRLQSSRLALRTVYYPQVHLGTISGAGMVRPTSVTPGLFQVLKYDDMLVVPIIE >In-frame_SLC25A33_ENST00000302692_chr1_9613863_+_APIP_ENST00000395787_chr11_34905051_-_168aa MATGGQQKENTLLHLFAGGCGGTVGAIFTCPLEVIKTRLQSSRLALRTVYYPQVHLGTISGAGMVRPTSVTPGLFQVLKYDDMLVVPIIE |
| * Fusion transcript sequences (only coding sequence (CDS) region). |
| >In-frame_SLC25A33_ENST00000302692_chr1_9613863_+_APIP_ENST00000278359_chr11_34905051_-_504nt ATGGCGACGGGCGGCCAGCAGAAGGAGAACACGCTGCTTCACCTCTTCGCCGGCGGGTGTGGAGGCACAGTTGGTGCTATTTTCACTTGT CCACTAGAAGTCATTAAGACACGGTTGCAGTCTTCAAGATTAGCTCTCCGGACAGTCTACTATCCTCAGGTTCATCTGGGGACCATTAGT GGAGCTGGAATGGTGAGACCAACATCCGTGACACCTGGACTCTTTCAGGTTCTGAAATATGATGATATGTTAGTGGTACCCATTATTGAG AATACACCTGAGGAGAAAGACCTCAAAGATAGAATGGCTCATGCAATGAATGAATACCCAGACTCCTGTGCAGTACTGGTCAGACGTCAT GGAGTATATGTGTGGGGGGAAACATGGGAGAAGGCCAAAACCATGTGTGAGTGTTATGACTATTTATTTGATATTGCCGTATCAATGAAG >In-frame_SLC25A33_ENST00000302692_chr1_9613863_+_APIP_ENST00000395787_chr11_34905051_-_504nt ATGGCGACGGGCGGCCAGCAGAAGGAGAACACGCTGCTTCACCTCTTCGCCGGCGGGTGTGGAGGCACAGTTGGTGCTATTTTCACTTGT CCACTAGAAGTCATTAAGACACGGTTGCAGTCTTCAAGATTAGCTCTCCGGACAGTCTACTATCCTCAGGTTCATCTGGGGACCATTAGT GGAGCTGGAATGGTGAGACCAACATCCGTGACACCTGGACTCTTTCAGGTTCTGAAATATGATGATATGTTAGTGGTACCCATTATTGAG AATACACCTGAGGAGAAAGACCTCAAAGATAGAATGGCTCATGCAATGAATGAATACCCAGACTCCTGTGCAGTACTGGTCAGACGTCAT GGAGTATATGTGTGGGGGGAAACATGGGAGAAGGCCAAAACCATGTGTGAGTGTTATGACTATTTATTTGATATTGCCGTATCAATGAAG |
| * Fusion transcript sequences (Full-length transcript). |
| >In-frame_SLC25A33_ENST00000302692_chr1_9613863_+_APIP_ENST00000278359_chr11_34905051_-_850nt GCGCCGCAGAGGCCGGTGAGGCGCCGGCGGCCACGCCGCGGAAGGCGCGGGCCGAGCAGAGCCGGGCGTTGGAGCCCGCGCGCGCATGGA GGCGTTGCCGGCAGCCCCCTGAGGGCAGCGGGGAGACAAGACCCGGCGACCTCGCGCATCCCTCGAGCCGCCACGCGCTCTCGCCACCGG GCGGCGACGGGCCGCGGAGCCGGCGCGGCCATGGCGACGGGCGGCCAGCAGAAGGAGAACACGCTGCTTCACCTCTTCGCCGGCGGGTGT GGAGGCACAGTTGGTGCTATTTTCACTTGTCCACTAGAAGTCATTAAGACACGGTTGCAGTCTTCAAGATTAGCTCTCCGGACAGTCTAC TATCCTCAGGTTCATCTGGGGACCATTAGTGGAGCTGGAATGGTGAGACCAACATCCGTGACACCTGGACTCTTTCAGGTTCTGAAATAT GATGATATGTTAGTGGTACCCATTATTGAGAATACACCTGAGGAGAAAGACCTCAAAGATAGAATGGCTCATGCAATGAATGAATACCCA GACTCCTGTGCAGTACTGGTCAGACGTCATGGAGTATATGTGTGGGGGGAAACATGGGAGAAGGCCAAAACCATGTGTGAGTGTTATGAC TATTTATTTGATATTGCCGTATCAATGAAGAAAGTAGGACTTGATCCTTCACAGCTCCCAGTTGGAGAAAATGGAATTGTCTAAGCCAAA AGAAAGTCTAATTATATACAGAGATAAAGCTAAACGTCCCTCCCACAACACGGAATTATGGGAGCTACAAGATGAGATTTGAGTGGGGAC >In-frame_SLC25A33_ENST00000302692_chr1_9613863_+_APIP_ENST00000395787_chr11_34905051_-_1136nt GCGCCGCAGAGGCCGGTGAGGCGCCGGCGGCCACGCCGCGGAAGGCGCGGGCCGAGCAGAGCCGGGCGTTGGAGCCCGCGCGCGCATGGA GGCGTTGCCGGCAGCCCCCTGAGGGCAGCGGGGAGACAAGACCCGGCGACCTCGCGCATCCCTCGAGCCGCCACGCGCTCTCGCCACCGG GCGGCGACGGGCCGCGGAGCCGGCGCGGCCATGGCGACGGGCGGCCAGCAGAAGGAGAACACGCTGCTTCACCTCTTCGCCGGCGGGTGT GGAGGCACAGTTGGTGCTATTTTCACTTGTCCACTAGAAGTCATTAAGACACGGTTGCAGTCTTCAAGATTAGCTCTCCGGACAGTCTAC TATCCTCAGGTTCATCTGGGGACCATTAGTGGAGCTGGAATGGTGAGACCAACATCCGTGACACCTGGACTCTTTCAGGTTCTGAAATAT GATGATATGTTAGTGGTACCCATTATTGAGAATACACCTGAGGAGAAAGACCTCAAAGATAGAATGGCTCATGCAATGAATGAATACCCA GACTCCTGTGCAGTACTGGTCAGACGTCATGGAGTATATGTGTGGGGGGAAACATGGGAGAAGGCCAAAACCATGTGTGAGTGTTATGAC TATTTATTTGATATTGCCGTATCAATGAAGAAAGTAGGACTTGATCCTTCACAGCTCCCAGTTGGAGAAAATGGAATTGTCTAAGCCAAA AGAAAGTCTAATTATATACAGAGATAAAGCTAAACGTAATTATTATTTAAATGAAAGCTATTTTTTTAAATGAATTGAAATTTTTCATGA TGCTACTAATTTGCCACTAAATACTGCAAATGGTCACCCTGAATCTCTTCTGACATTGGATGTTATTTGCTTATATTCTTATAATTTTAA ATGAGGGCACAGTGAAATGAAAATTTTATACTCTATGTTTCTGTTTATTTTTAAATCCTTAACAGCAAAATATTTGCCTTTAATTTCTTT TTTATATATACTCTCAGAGAATTCCTCTTAATTTTTAAAGATGCTGGTGATAATAAAATTCATTAGAAAATTTCCTCATTGTGGAATGAG |
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FusionGenePPI for SLC25A33_APIP |
| 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 |
| SLC25A33 | YAE1D1, HSPD1, C1orf85 | APIP | NUDT18, VIM, VPS25, LNX1, APIP, APAF1, ELAVL1, PPP1CC, NIF3L1, IMPDH2, PSMA1, SDCBP, SKP1, ZBTB25, TNPO2, WDYHV1, PDZD4, TSC22D4, C6orf165, HEPHL1, LYG2, UBA3, DSG4, VSIG8, FASTKD2, C6orf211, NDE1, ISOC2 |
| - 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 SLC25A33_APIP |
| 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 SLC25A33_APIP |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
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