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Fusion gene ID: 27143 |
FusionGeneSummary for PIGO_CA9 |
Fusion gene summary |
Fusion gene information | Fusion gene name: PIGO_CA9 | Fusion gene ID: 27143 | Hgene | Tgene | Gene symbol | PIGO | CA9 | Gene ID | 84720 | 768 |
Gene name | phosphatidylinositol glycan anchor biosynthesis class O | carbonic anhydrase 9 | |
Synonyms | HPMRS2 | CAIX|MN | |
Cytomap | 9p13.3 | 9p13.3 | |
Type of gene | protein-coding | protein-coding | |
Description | GPI ethanolamine phosphate transferase 3phosphatidylinositol-glycan biosynthesis class O protein | carbonic anhydrase 9CA-IXP54/58NRCC-associated antigen G250RCC-associated protein G250carbonate dehydratase IXcarbonic anhydrase IXcarbonic dehydratasemembrane antigen MNpMW1renal cell carcinoma-associated antigen G250 | |
Modification date | 20180523 | 20180527 | |
UniProtAcc | Q8TEQ8 | Q16790 | |
Ensembl transtripts involved in fusion gene | ENST00000298004, ENST00000378617, ENST00000361778, ENST00000341666, ENST00000492770, | ENST00000378357, ENST00000493245, | |
Fusion gene scores | * DoF score | 1 X 1 X 1=1 | 1 X 1 X 1=1 |
# samples | 1 | 1 | |
** MAII score | log2(1/1*10)=3.32192809488736 | log2(1/1*10)=3.32192809488736 | |
Context | PubMed: PIGO [Title/Abstract] AND CA9 [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 |
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 | GBM | TCGA-19-2625-01A | PIGO | chr9 | 35096558 | - | CA9 | chr9 | 35679851 | + |
* 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-3CDS | ENST00000298004 | ENST00000378357 | PIGO | chr9 | 35096558 | - | CA9 | chr9 | 35679851 | + |
intron-3UTR | ENST00000298004 | ENST00000493245 | PIGO | chr9 | 35096558 | - | CA9 | chr9 | 35679851 | + |
intron-3CDS | ENST00000378617 | ENST00000378357 | PIGO | chr9 | 35096558 | - | CA9 | chr9 | 35679851 | + |
intron-3UTR | ENST00000378617 | ENST00000493245 | PIGO | chr9 | 35096558 | - | CA9 | chr9 | 35679851 | + |
5UTR-3CDS | ENST00000361778 | ENST00000378357 | PIGO | chr9 | 35096558 | - | CA9 | chr9 | 35679851 | + |
5UTR-3UTR | ENST00000361778 | ENST00000493245 | PIGO | chr9 | 35096558 | - | CA9 | chr9 | 35679851 | + |
5UTR-3CDS | ENST00000341666 | ENST00000378357 | PIGO | chr9 | 35096558 | - | CA9 | chr9 | 35679851 | + |
5UTR-3UTR | ENST00000341666 | ENST00000493245 | PIGO | chr9 | 35096558 | - | CA9 | chr9 | 35679851 | + |
5UTR-3CDS | ENST00000492770 | ENST00000378357 | PIGO | chr9 | 35096558 | - | CA9 | chr9 | 35679851 | + |
5UTR-3UTR | ENST00000492770 | ENST00000493245 | PIGO | chr9 | 35096558 | - | CA9 | chr9 | 35679851 | + |
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FusionProtFeatures for PIGO_CA9 |
Main function of each fusion partner protein. (from UniProt) |
Hgene | Tgene |
PIGO | CA9 |
Ethanolamine phosphate transferase involved inglycosylphosphatidylinositol-anchor biosynthesis. Transfersethanolamine phosphate to the GPI third mannose which links theGPI-anchor to the C-terminus of the proteins by an amide bond.{ECO:0000269|PubMed:24049131, ECO:0000269|PubMed:28337824}. | Reversible hydration of carbon dioxide. Participates inpH regulation. May be involved in the control of cellproliferation and transformation. Appears to be a novel specificbiomarker for a cervical neoplasia. {ECO:0000269|PubMed:18703501}. |
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 PIGO_CA9 |
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 PIGO_CA9 |
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 |
PIGO | APP, POPDC2, ATP1B3, MCOLN3, KCNK16, PTH1R, GABRE, ART3, LPAR1, HTR3C, POTEI, ATP2B2, HTR3A, ATP2A3, UPK1A, GPR114 | CA9 | CTNNB1, CDH1, CTNNA1, FLOT1, CAND1, G3BP2, ATP5A1, ATP5B, RTCB, RPS5, CAND2, ACACA, IPO9, IPO4, IPO5, IPO7, KPNA2, XPO5, XPOT, CSE1L, XPO1, TNPO3, TNPO1, ATXN10, CA2, HEATR3, SAAL1, SRPRB, HADHA, ATP4A |
- 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 PIGO_CA9 |
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 |
Tgene | CA9 | Q16790 | DB00562 | Benzthiazide | Carbonic anhydrase 9 | small molecule | approved |
Tgene | CA9 | Q16790 | DB00774 | Hydroflumethiazide | Carbonic anhydrase 9 | small molecule | approved|investigational |
Tgene | CA9 | Q16790 | DB00909 | Zonisamide | Carbonic anhydrase 9 | small molecule | approved|investigational |
Tgene | CA9 | Q16790 | DB00999 | Hydrochlorothiazide | Carbonic anhydrase 9 | small molecule | approved|vet_approved |
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RelatedDiseases for PIGO_CA9 |
Diseases associated with fusion partners. (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Hgene | PIGO | C3553637 | HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 2 | 1 | UNIPROT |
Tgene | CA9 | C0002793 | Anaplasia | 1 | CTD_human |
Tgene | CA9 | C0007124 | Noninfiltrating Intraductal Carcinoma | 1 | CTD_human |
Tgene | CA9 | C0020542 | Pulmonary Hypertension | 1 | CTD_human |
Tgene | CA9 | C0023473 | Myeloid Leukemia, Chronic | 1 | CTD_human |
Tgene | CA9 | C0242184 | Hypoxia | 1 | CTD_human |
Tgene | CA9 | C1176475 | Ductal Carcinoma | 1 | CTD_human |