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Center for Computational Systems Medicine
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FusionGeneSummary

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FusionProtFeature

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FusionGeneSequence

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FusionGenePPI

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RelatedDrugs

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RelatedDiseases

Fusion gene ID: 27143

FusionGeneSummary for PIGO_CA9

check button Fusion gene summary
Fusion gene informationFusion gene name: PIGO_CA9
Fusion gene ID: 27143
HgeneTgene
Gene symbol

PIGO

CA9

Gene ID

84720

768

Gene namephosphatidylinositol glycan anchor biosynthesis class Ocarbonic anhydrase 9
SynonymsHPMRS2CAIX|MN
Cytomap

9p13.3

9p13.3

Type of geneprotein-codingprotein-coding
DescriptionGPI ethanolamine phosphate transferase 3phosphatidylinositol-glycan biosynthesis class O proteincarbonic anhydrase 9CA-IXP54/58NRCC-associated antigen G250RCC-associated protein G250carbonate dehydratase IXcarbonic anhydrase IXcarbonic dehydratasemembrane antigen MNpMW1renal cell carcinoma-associated antigen G250
Modification date2018052320180527
UniProtAcc

Q8TEQ8

Q16790

Ensembl transtripts involved in fusion geneENST00000298004, ENST00000378617, 
ENST00000361778, ENST00000341666, 
ENST00000492770, 
ENST00000378357, 
ENST00000493245, 
Fusion gene scores* DoF score1 X 1 X 1=11 X 1 X 1=1
# samples 11
** MAII scorelog2(1/1*10)=3.32192809488736log2(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)

check button Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez
PartnerGeneGO IDGO termPubMed ID

check button 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 typeSourceCancer typeSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
TCGALDGBMTCGA-19-2625-01APIGOchr9

35096558

-CA9chr9

35679851

+
* LD: Li Ding group's fusion gene list
  RV: Roel Verhaak group's fusion gene list
  ChiTaRs fusion database

check button 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.
ORFHenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrand
intron-3CDSENST00000298004ENST00000378357PIGOchr9

35096558

-CA9chr9

35679851

+
intron-3UTRENST00000298004ENST00000493245PIGOchr9

35096558

-CA9chr9

35679851

+
intron-3CDSENST00000378617ENST00000378357PIGOchr9

35096558

-CA9chr9

35679851

+
intron-3UTRENST00000378617ENST00000493245PIGOchr9

35096558

-CA9chr9

35679851

+
5UTR-3CDSENST00000361778ENST00000378357PIGOchr9

35096558

-CA9chr9

35679851

+
5UTR-3UTRENST00000361778ENST00000493245PIGOchr9

35096558

-CA9chr9

35679851

+
5UTR-3CDSENST00000341666ENST00000378357PIGOchr9

35096558

-CA9chr9

35679851

+
5UTR-3UTRENST00000341666ENST00000493245PIGOchr9

35096558

-CA9chr9

35679851

+
5UTR-3CDSENST00000492770ENST00000378357PIGOchr9

35096558

-CA9chr9

35679851

+
5UTR-3UTRENST00000492770ENST00000493245PIGOchr9

35096558

-CA9chr9

35679851

+

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FusionProtFeatures for PIGO_CA9


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
PIGO

Q8TEQ8

CA9

Q16790

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}.

check buttonRetention 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

download page

.

* 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.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note


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FusionGeneSequence for PIGO_CA9


check button 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


check button Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in

ChiPPI page

.

check button Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160)
HgeneHgene's interactorsTgeneTgene's interactors
PIGOAPP, POPDC2, ATP1B3, MCOLN3, KCNK16, PTH1R, GABRE, ART3, LPAR1, HTR3C, POTEI, ATP2B2, HTR3A, ATP2A3, UPK1A, GPR114CA9CTNNB1, 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


check button - Retained PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenStill interaction with


check button - Lost PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


check button - Retained PPIs, but lost function due to frame-shift fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


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RelatedDrugs for PIGO_CA9


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
TgeneCA9Q16790DB00562BenzthiazideCarbonic anhydrase 9small moleculeapproved
TgeneCA9Q16790DB00774HydroflumethiazideCarbonic anhydrase 9small moleculeapproved|investigational
TgeneCA9Q16790DB00909ZonisamideCarbonic anhydrase 9small moleculeapproved|investigational
TgeneCA9Q16790DB00999HydrochlorothiazideCarbonic anhydrase 9small moleculeapproved|vet_approved

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RelatedDiseases for PIGO_CA9


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgenePIGOC3553637HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 21UNIPROT
TgeneCA9C0002793Anaplasia1CTD_human
TgeneCA9C0007124Noninfiltrating Intraductal Carcinoma1CTD_human
TgeneCA9C0020542Pulmonary Hypertension1CTD_human
TgeneCA9C0023473Myeloid Leukemia, Chronic1CTD_human
TgeneCA9C0242184Hypoxia1CTD_human
TgeneCA9C1176475Ductal Carcinoma1CTD_human