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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: 5128

FusionGeneSummary for CA12_CA12

check button Fusion gene summary
Fusion gene informationFusion gene name: CA12_CA12
Fusion gene ID: 5128
HgeneTgene
Gene symbol

CA12

CA12

Gene ID

771

771

Gene namecarbonic anhydrase 12carbonic anhydrase 12
SynonymsCA-XII|CAXII|HsT18816|T18816CA-XII|CAXII|HsT18816|T18816
Cytomap

15q22.2

15q22.2

Type of geneprotein-codingprotein-coding
Descriptioncarbonic anhydrase 12carbonate dehydratase XIIcarbonic anhydrase XIIcarbonic dehydratasetumor antigen HOM-RCC-3.1.3carbonic anhydrase 12carbonate dehydratase XIIcarbonic anhydrase XIIcarbonic dehydratasetumor antigen HOM-RCC-3.1.3
Modification date2018052220180522
UniProtAcc

O43570

O43570

Ensembl transtripts involved in fusion geneENST00000178638, ENST00000344366, 
ENST00000422263, ENST00000560666, 
ENST00000178638, ENST00000344366, 
ENST00000422263, ENST00000560666, 
Fusion gene scores* DoF score1 X 2 X 1=24 X 5 X 1=20
# samples 25
** MAII scorelog2(2/2*10)=3.32192809488736log2(5/20*10)=1.32192809488736
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: CA12 [Title/Abstract] AND CA12 [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
ChiTaRS3.1AI478632CA12chr15

63620058

+CA12chr15

63619575

+
ChiTaRS3.1CA312936CA12chr15

63616064

+CA12chr15

63616358

-
* 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-intronENST00000178638ENST00000178638CA12chr15

63620058

+CA12chr15

63619575

+
intron-intronENST00000178638ENST00000344366CA12chr15

63620058

+CA12chr15

63619575

+
intron-intronENST00000178638ENST00000422263CA12chr15

63620058

+CA12chr15

63619575

+
intron-intronENST00000178638ENST00000560666CA12chr15

63620058

+CA12chr15

63619575

+
intron-intronENST00000344366ENST00000178638CA12chr15

63620058

+CA12chr15

63619575

+
intron-intronENST00000344366ENST00000344366CA12chr15

63620058

+CA12chr15

63619575

+
intron-intronENST00000344366ENST00000422263CA12chr15

63620058

+CA12chr15

63619575

+
intron-intronENST00000344366ENST00000560666CA12chr15

63620058

+CA12chr15

63619575

+
intron-intronENST00000422263ENST00000178638CA12chr15

63620058

+CA12chr15

63619575

+
intron-intronENST00000422263ENST00000344366CA12chr15

63620058

+CA12chr15

63619575

+
intron-intronENST00000422263ENST00000422263CA12chr15

63620058

+CA12chr15

63619575

+
intron-intronENST00000422263ENST00000560666CA12chr15

63620058

+CA12chr15

63619575

+
intron-intronENST00000560666ENST00000178638CA12chr15

63620058

+CA12chr15

63619575

+
intron-intronENST00000560666ENST00000344366CA12chr15

63620058

+CA12chr15

63619575

+
intron-intronENST00000560666ENST00000422263CA12chr15

63620058

+CA12chr15

63619575

+
intron-intronENST00000560666ENST00000560666CA12chr15

63620058

+CA12chr15

63619575

+
intron-3UTRENST00000178638ENST00000178638CA12chr15

63616064

+CA12chr15

63616358

-
intron-intronENST00000178638ENST00000344366CA12chr15

63616064

+CA12chr15

63616358

-
intron-intronENST00000178638ENST00000422263CA12chr15

63616064

+CA12chr15

63616358

-
intron-intronENST00000178638ENST00000560666CA12chr15

63616064

+CA12chr15

63616358

-
intron-3UTRENST00000344366ENST00000178638CA12chr15

63616064

+CA12chr15

63616358

-
intron-intronENST00000344366ENST00000344366CA12chr15

63616064

+CA12chr15

63616358

-
intron-intronENST00000344366ENST00000422263CA12chr15

63616064

+CA12chr15

63616358

-
intron-intronENST00000344366ENST00000560666CA12chr15

63616064

+CA12chr15

63616358

-
intron-3UTRENST00000422263ENST00000178638CA12chr15

63616064

+CA12chr15

63616358

-
intron-intronENST00000422263ENST00000344366CA12chr15

63616064

+CA12chr15

63616358

-
intron-intronENST00000422263ENST00000422263CA12chr15

63616064

+CA12chr15

63616358

-
intron-intronENST00000422263ENST00000560666CA12chr15

63616064

+CA12chr15

63616358

-
intron-3UTRENST00000560666ENST00000178638CA12chr15

63616064

+CA12chr15

63616358

-
intron-intronENST00000560666ENST00000344366CA12chr15

63616064

+CA12chr15

63616358

-
intron-intronENST00000560666ENST00000422263CA12chr15

63616064

+CA12chr15

63616358

-
intron-intronENST00000560666ENST00000560666CA12chr15

63616064

+CA12chr15

63616358

-

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FusionProtFeatures for CA12_CA12


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
CA12

O43570

CA12

O43570

Reversible hydration of carbon dioxide. Reversible hydration of carbon dioxide.

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 CA12_CA12


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 CA12_CA12


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


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


Top

RelatedDrugs for CA12_CA12


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
HgeneCA12O43570DB00562BenzthiazideCarbonic anhydrase 12small moleculeapproved
HgeneCA12O43570DB00774HydroflumethiazideCarbonic anhydrase 12small moleculeapproved|investigational
HgeneCA12O43570DB00909ZonisamideCarbonic anhydrase 12small moleculeapproved|investigational
HgeneCA12O43570DB00819AcetazolamideCarbonic anhydrase 12small moleculeapproved|vet_approved
HgeneCA12O43570DB00999HydrochlorothiazideCarbonic anhydrase 12small moleculeapproved|vet_approved
TgeneCA12O43570DB00562BenzthiazideCarbonic anhydrase 12small moleculeapproved
TgeneCA12O43570DB00774HydroflumethiazideCarbonic anhydrase 12small moleculeapproved|investigational
TgeneCA12O43570DB00909ZonisamideCarbonic anhydrase 12small moleculeapproved|investigational
TgeneCA12O43570DB00819AcetazolamideCarbonic anhydrase 12small moleculeapproved|vet_approved
TgeneCA12O43570DB00999HydrochlorothiazideCarbonic anhydrase 12small moleculeapproved|vet_approved

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RelatedDiseases for CA12_CA12


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneCA12C1840437Isolated hyperchlorhidrosis1CTD_human;UNIPROT
TgeneCA12C1840437Isolated hyperchlorhidrosis1CTD_human;UNIPROT