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Fusion gene ID: 26084 |
FusionGeneSummary for PAX8_CNDP2 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: PAX8_CNDP2 | Fusion gene ID: 26084 | Hgene | Tgene | Gene symbol | PAX8 | CNDP2 | Gene ID | 7849 | 55748 |
| Gene name | paired box 8 | carnosine dipeptidase 2 | |
| Synonyms | - | CN2|CPGL|HEL-S-13|HsT2298|PEPA | |
| Cytomap | 2q14.1 | 18q22.3 | |
| Type of gene | protein-coding | protein-coding | |
| Description | paired box protein Pax-8paired domain gene 8 | cytosolic non-specific dipeptidaseCNDP dipeptidase 2 (metallopeptidase M20 family)carnosinase-2carnosine dipeptidase IIcytosolic nonspecific dipeptidaseepididymis secretory protein Li 13glutamate carboxypeptidase-like protein 1peptidase A | |
| Modification date | 20180519 | 20180519 | |
| UniProtAcc | Q06710 | Q96KP4 | |
| Ensembl transtripts involved in fusion gene | ENST00000348715, ENST00000397647, ENST00000263335, ENST00000429538, ENST00000263334, | ENST00000324262, ENST00000579847, ENST00000580229, ENST00000324301, | |
| Fusion gene scores | * DoF score | 7 X 8 X 4=224 | 3 X 3 X 1=9 |
| # samples | 13 | 3 | |
| ** MAII score | log2(13/224*10)=-0.784987109029149 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(3/9*10)=1.73696559416621 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | |
| Context | PubMed: PAX8 [Title/Abstract] AND CNDP2 [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 | PAX8 | GO:0006351 | transcription, DNA-templated | 9590296 |
| Hgene | PAX8 | GO:0045893 | positive regulation of transcription, DNA-templated | 9388203|15356023|15961562 |
| Hgene | PAX8 | GO:0045944 | positive regulation of transcription by RNA polymerase II | 9388203 |
| Hgene | PAX8 | GO:0071371 | cellular response to gonadotropin stimulus | 15961562 |
| 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 | BF853131 | PAX8 | chr2 | 114001208 | - | CNDP2 | chr18 | 72176450 | - |
| * 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 | ENST00000348715 | ENST00000324262 | PAX8 | chr2 | 114001208 | - | CNDP2 | chr18 | 72176450 | - |
| intron-intron | ENST00000348715 | ENST00000579847 | PAX8 | chr2 | 114001208 | - | CNDP2 | chr18 | 72176450 | - |
| intron-intron | ENST00000348715 | ENST00000580229 | PAX8 | chr2 | 114001208 | - | CNDP2 | chr18 | 72176450 | - |
| intron-intron | ENST00000348715 | ENST00000324301 | PAX8 | chr2 | 114001208 | - | CNDP2 | chr18 | 72176450 | - |
| intron-intron | ENST00000397647 | ENST00000324262 | PAX8 | chr2 | 114001208 | - | CNDP2 | chr18 | 72176450 | - |
| intron-intron | ENST00000397647 | ENST00000579847 | PAX8 | chr2 | 114001208 | - | CNDP2 | chr18 | 72176450 | - |
| intron-intron | ENST00000397647 | ENST00000580229 | PAX8 | chr2 | 114001208 | - | CNDP2 | chr18 | 72176450 | - |
| intron-intron | ENST00000397647 | ENST00000324301 | PAX8 | chr2 | 114001208 | - | CNDP2 | chr18 | 72176450 | - |
| intron-intron | ENST00000263335 | ENST00000324262 | PAX8 | chr2 | 114001208 | - | CNDP2 | chr18 | 72176450 | - |
| intron-intron | ENST00000263335 | ENST00000579847 | PAX8 | chr2 | 114001208 | - | CNDP2 | chr18 | 72176450 | - |
| intron-intron | ENST00000263335 | ENST00000580229 | PAX8 | chr2 | 114001208 | - | CNDP2 | chr18 | 72176450 | - |
| intron-intron | ENST00000263335 | ENST00000324301 | PAX8 | chr2 | 114001208 | - | CNDP2 | chr18 | 72176450 | - |
| intron-intron | ENST00000429538 | ENST00000324262 | PAX8 | chr2 | 114001208 | - | CNDP2 | chr18 | 72176450 | - |
| intron-intron | ENST00000429538 | ENST00000579847 | PAX8 | chr2 | 114001208 | - | CNDP2 | chr18 | 72176450 | - |
| intron-intron | ENST00000429538 | ENST00000580229 | PAX8 | chr2 | 114001208 | - | CNDP2 | chr18 | 72176450 | - |
| intron-intron | ENST00000429538 | ENST00000324301 | PAX8 | chr2 | 114001208 | - | CNDP2 | chr18 | 72176450 | - |
| intron-intron | ENST00000263334 | ENST00000324262 | PAX8 | chr2 | 114001208 | - | CNDP2 | chr18 | 72176450 | - |
| intron-intron | ENST00000263334 | ENST00000579847 | PAX8 | chr2 | 114001208 | - | CNDP2 | chr18 | 72176450 | - |
| intron-intron | ENST00000263334 | ENST00000580229 | PAX8 | chr2 | 114001208 | - | CNDP2 | chr18 | 72176450 | - |
| intron-intron | ENST00000263334 | ENST00000324301 | PAX8 | chr2 | 114001208 | - | CNDP2 | chr18 | 72176450 | - |
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FusionProtFeatures for PAX8_CNDP2 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| PAX8 | CNDP2 |
| Transcription factor for the thyroid-specific expressionof the genes exclusively expressed in the thyroid cell type,maintaining the functional differentiation of such cells. | Hydrolyzes a variety of dipeptides including L-carnosinebut has a strong preference for Cys-Gly (PubMed:19346245). Acts asa functional tumor suppressor in gastric cancer via activation ofthe mitogen-activated protein kinase (MAPK) pathway. An elevatedlevel of CNDP2 activates the p38 and JNK MAPK pathways to inducecell apoptosis, and a lower level of CNDP2 activates the ERK MAPKpathway to promote cell proliferation (PubMed:24395568). Isoform 2may play a role as tumor suppressor in hepatocellular carcinoma(HCC) cells (PubMed:17121880). Catalyzes the production of N-lactoyl-amino acids from lactate and amino acids by reverseproteolysis (PubMed:25964343). {ECO:0000269|PubMed:17121880,ECO:0000269|PubMed:19346245, ECO:0000269|PubMed:24395568,ECO:0000269|PubMed:25964343}. |
| 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 PAX8_CNDP2 |
| 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 PAX8_CNDP2 |
| 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 PAX8_CNDP2 |
| 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 PAX8_CNDP2 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | PAX8 | C1869118 | HYPOTHYROIDISM, CONGENITAL, DUE TO THYROID DYSGENESIS | 3 | CTD_human;ORPHANET;UNIPROT |
| Hgene | PAX8 | C0009404 | Colorectal Neoplasms | 1 | CTD_human |
| Hgene | PAX8 | C2931367 | Thyroid cancer, follicular | 1 | CTD_human |
| Tgene | CNDP2 | C0011881 | Diabetic Nephropathy | 1 | CTD_human |
| Tgene | CNDP2 | C0015695 | Fatty Liver | 1 | CTD_human |
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