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Fusion gene ID: 13446 |
FusionGeneSummary for FHIT_PRDM12 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: FHIT_PRDM12 | Fusion gene ID: 13446 | Hgene | Tgene | Gene symbol | FHIT | PRDM12 | Gene ID | 2272 | 59335 |
| Gene name | fragile histidine triad | PR/SET domain 12 | |
| Synonyms | AP3Aase|FRA3B | HSAN8|PFM9 | |
| Cytomap | 3p14.2 | 9q34.12 | |
| Type of gene | protein-coding | protein-coding | |
| Description | bis(5'-adenosyl)-triphosphataseAP3A hydrolasediadenosine 5',5'''-P1,P3-triphosphate hydrolasedinucleosidetriphosphatase | PR domain zinc finger protein 12PR domain containing 12 | |
| Modification date | 20180519 | 20180526 | |
| UniProtAcc | P49789 | Q9H4Q4 | |
| Ensembl transtripts involved in fusion gene | ENST00000476844, ENST00000492590, ENST00000466788, ENST00000468189, ENST00000341848, | ENST00000253008, | |
| Fusion gene scores | * DoF score | 15 X 9 X 8=1080 | 2 X 2 X 2=8 |
| # samples | 16 | 2 | |
| ** MAII score | log2(16/1080*10)=-2.75488750216347 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(2/8*10)=1.32192809488736 | |
| Context | PubMed: FHIT [Title/Abstract] AND PRDM12 [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 | FHIT | GO:0006163 | purine nucleotide metabolic process | 9323207 |
| Tgene | PRDM12 | GO:0051574 | positive regulation of histone H3-K9 methylation | 26005867 |
| 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 | BF370943 | FHIT | chr3 | 60213935 | + | PRDM12 | chr9 | 133551986 | + |
| * 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 | ENST00000476844 | ENST00000253008 | FHIT | chr3 | 60213935 | + | PRDM12 | chr9 | 133551986 | + |
| intron-intron | ENST00000492590 | ENST00000253008 | FHIT | chr3 | 60213935 | + | PRDM12 | chr9 | 133551986 | + |
| intron-intron | ENST00000466788 | ENST00000253008 | FHIT | chr3 | 60213935 | + | PRDM12 | chr9 | 133551986 | + |
| intron-intron | ENST00000468189 | ENST00000253008 | FHIT | chr3 | 60213935 | + | PRDM12 | chr9 | 133551986 | + |
| intron-intron | ENST00000341848 | ENST00000253008 | FHIT | chr3 | 60213935 | + | PRDM12 | chr9 | 133551986 | + |
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FusionProtFeatures for FHIT_PRDM12 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| FHIT | PRDM12 |
| Cleaves P(1)-P(3)-bis(5'-adenosyl) triphosphate (Ap3A)to yield AMP and ADP. Can also hydrolyze P(1)-P(4)-bis(5'-adenosyl) tetraphosphate (Ap4A), but has extremely low activitywith ATP. Modulates transcriptional activation by CTNNB1 andthereby contributes to regulate the expression of genes essentialfor cell proliferation and survival, such as CCND1 and BIRC5.Plays a role in the induction of apoptosis via SRC and AKT1signaling pathways. Inhibits MDM2-mediated proteasomal degradationof p53/TP53 and thereby plays a role in p53/TP53-mediatedapoptosis. Induction of apoptosis depends on the ability of FHITto bind P(1)-P(3)-bis(5'-adenosyl) triphosphate or relatedcompounds, but does not require its catalytic activity, it may inpart come from the mitochondrial form, which sensitizes the low-affinity Ca(2+) transporters, enhancing mitochondrial calciumuptake. Functions as tumor suppressor.{ECO:0000269|PubMed:12574506, ECO:0000269|PubMed:15313915,ECO:0000269|PubMed:16407838, ECO:0000269|PubMed:18077326,ECO:0000269|PubMed:19622739, ECO:0000269|PubMed:8794732,ECO:0000269|PubMed:9323207}. | Involved in the positive regulation of histone H3-K9dimethylation. {ECO:0000269|PubMed:26005867}. |
| 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 FHIT_PRDM12 |
| 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 FHIT_PRDM12 |
| 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 FHIT_PRDM12 |
| 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 |
| Hgene | FHIT | P49789 | DB04173 | Fructose | Bis(5'-adenosyl)-triphosphatase | small molecule | approved|experimental |
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RelatedDiseases for FHIT_PRDM12 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | FHIT | C0024121 | Lung Neoplasms | 2 | CTD_human |
| Hgene | FHIT | C0025500 | Mesothelioma | 2 | CTD_human |
| Hgene | FHIT | C0007131 | Non-Small Cell Lung Carcinoma | 1 | CTD_human |
| Hgene | FHIT | C0023903 | Liver neoplasms | 1 | CTD_human |
| Hgene | FHIT | C0033578 | Prostatic Neoplasms | 1 | CTD_human |
| Hgene | FHIT | C0036341 | Schizophrenia | 1 | PSYGENET |
| Hgene | FHIT | C0038356 | Stomach Neoplasms | 1 | CTD_human |
| Hgene | FHIT | C0042076 | Urologic Neoplasms | 1 | CTD_human |
| Hgene | FHIT | C0236733 | Amphetamine-Related Disorders | 1 | CTD_human |
| Hgene | FHIT | C0236969 | Substance-Related Disorders | 1 | CTD_human |
| Tgene | PRDM12 | C0002768 | Congenital Pain Insensitivity | 1 | CTD_human |
| Tgene | PRDM12 | C4225308 | NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VIII | 1 | UNIPROT |
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