FusionGDB Logo

Home

Download

Statistics

Examples

Help

Contact

Center for Computational Systems Medicine
leaf

FusionGeneSummary

leaf

FusionProtFeature

leaf

FusionGeneSequence

leaf

FusionGenePPI

leaf

RelatedDrugs

leaf

RelatedDiseases

Fusion gene ID: 22601

FusionGeneSummary for MSC_CA2

check button Fusion gene summary
Fusion gene informationFusion gene name: MSC_CA2
Fusion gene ID: 22601
HgeneTgene
Gene symbol

MSC

CA2

Gene ID

51312

760

Gene namesolute carrier family 25 member 37carbonic anhydrase 2
SynonymsHT015|MFRN|MFRN1|MSC|MSCP|PRO1278|PRO1584|PRO2217CA-II|CAC|CAII|Car2|HEL-76|HEL-S-282
Cytomap

8p21.2

8q21.2

Type of geneprotein-codingprotein-coding
Descriptionmitoferrin-1mitochondrial iron transporter 1mitochondrial solute carrier proteinmitoferrinpredicted protein of HQ2217solute carrier family 25 (mitochondrial iron transporter), member 37carbonic anhydrase 2carbonate dehydratase IIcarbonic anhydrase Bcarbonic anhydrase Ccarbonic anhydrase IIcarbonic dehydrataseepididymis luminal protein 76epididymis secretory protein Li 282
Modification date2018052320180522
UniProtAcc

O60682

P00918

Ensembl transtripts involved in fusion geneENST00000325509, ENST00000518440, 
ENST00000285379, 
Fusion gene scores* DoF score2 X 2 X 1=41 X 1 X 1=1
# samples 21
** MAII scorelog2(2/4*10)=2.32192809488736log2(1/1*10)=3.32192809488736
Context

PubMed: MSC [Title/Abstract] AND CA2 [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
TgeneCA2

GO:0038166

angiotensin-activated signaling pathway

15990874

TgeneCA2

GO:0044070

regulation of anion transport

15990874


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
ChiTaRS3.1BI042447MSCchr8

72754213

-CA2chr8

86385949

+
* 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-3CDSENST00000325509ENST00000285379MSCchr8

72754213

-CA2chr8

86385949

+
intron-3CDSENST00000518440ENST00000285379MSCchr8

72754213

-CA2chr8

86385949

+

Top

FusionProtFeatures for MSC_CA2


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

O60682

CA2

P00918

Transcription repressor capable of inhibiting thetransactivation capability of TCF3/E47. May play a role inregulating antigen-dependent B-cell differentiation. Essential for bone resorption and osteoclastdifferentiation (By similarity). Reversible hydration of carbondioxide. Can hydrate cyanamide to urea. Involved in the regulationof fluid secretion into the anterior chamber of the eye.Contributes to intracellular pH regulation in the duodenal uppervillous epithelium during proton-coupled peptide absorption.Stimulates the chloride-bicarbonate exchange activity of SLC26A6.{ECO:0000250, ECO:0000269|PubMed:10550681,ECO:0000269|PubMed:11831900, ECO:0000269|PubMed:15990874}.

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


Top

FusionGeneSequence for MSC_CA2


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).

Top

FusionGenePPI for MSC_CA2


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 MSC_CA2


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
TgeneCA2P00918DB00232MethyclothiazideCarbonic anhydrase 2small moleculeapproved
TgeneCA2P00918DB00273TopiramateCarbonic anhydrase 2small moleculeapproved
TgeneCA2P00918DB00436BendroflumethiazideCarbonic anhydrase 2small moleculeapproved
TgeneCA2P00918DB00562BenzthiazideCarbonic anhydrase 2small moleculeapproved
TgeneCA2P00918DB00606CyclothiazideCarbonic anhydrase 2small moleculeapproved
TgeneCA2P00918DB00703MethazolamideCarbonic anhydrase 2small moleculeapproved
TgeneCA2P00918DB00869DorzolamideCarbonic anhydrase 2small moleculeapproved
TgeneCA2P00918DB01119DiazoxideCarbonic anhydrase 2small moleculeapproved
TgeneCA2P00918DB01194BrinzolamideCarbonic anhydrase 2small moleculeapproved
TgeneCA2P00918DB01325QuinethazoneCarbonic anhydrase 2small moleculeapproved
TgeneCA2P00918DB00391SulpirideCarbonic anhydrase 2small moleculeapproved|investigational
TgeneCA2P00918DB00482CelecoxibCarbonic anhydrase 2small moleculeapproved|investigational
TgeneCA2P00918DB00774HydroflumethiazideCarbonic anhydrase 2small moleculeapproved|investigational
TgeneCA2P00918DB00909ZonisamideCarbonic anhydrase 2small moleculeapproved|investigational
TgeneCA2P00918DB01144DiclofenamideCarbonic anhydrase 2small moleculeapproved|investigational
TgeneCA2P00918DB00580ValdecoxibCarbonic anhydrase 2small moleculeapproved|investigational|withdrawn
TgeneCA2P00918DB00695FurosemideCarbonic anhydrase 2small moleculeapproved|vet_approved
TgeneCA2P00918DB00819AcetazolamideCarbonic anhydrase 2small moleculeapproved|vet_approved
TgeneCA2P00918DB00880ChlorothiazideCarbonic anhydrase 2small moleculeapproved|vet_approved
TgeneCA2P00918DB00999HydrochlorothiazideCarbonic anhydrase 2small moleculeapproved|vet_approved
TgeneCA2P00918DB01021TrichlormethiazideCarbonic anhydrase 2small moleculeapproved|vet_approved
TgeneCA2P00918DB09472Sodium sulfateCarbonic anhydrase 2small moleculeapproved|vet_approved

Top

RelatedDiseases for MSC_CA2


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneCA2C0001418Adenocarcinoma1CTD_human
TgeneCA2C0029456Osteoporosis1CTD_human
TgeneCA2C0038356Stomach Neoplasms1CTD_human
TgeneCA2C0279626Squamous cell carcinoma of esophagus1CTD_human
TgeneCA2C0345407OSTEOPETROSIS, AUTOSOMAL RECESSIVE 31CTD_human;ORPHANET;UNIPROT
TgeneCA2C2239176Liver carcinoma1CTD_human