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: 3944

FusionGeneSummary for BCAS3_CA4

check button Fusion gene summary
Fusion gene informationFusion gene name: BCAS3_CA4
Fusion gene ID: 3944
HgeneTgene
Gene symbol

BCAS3

CA4

Gene ID

54828

762

Gene nameBCAS3, microtubule associated cell migration factorcarbonic anhydrase 4
SynonymsGAOB1|MAABCAIV|Car4|RP17
Cytomap

17q23.2

17q23.1

Type of geneprotein-codingprotein-coding
Descriptionbreast carcinoma-amplified sequence 3BCAS4/BCAS3 fusionRudhirabreast carcinoma amplified sequence 4/3 fusion proteinmetastasis associated antigen of breast cancerprotein Maab1carbonic anhydrase 4CA-IVcarbonate dehydratase IVcarbonic anhydrase IVcarbonic dehydratase IV
Modification date2018052320180522
UniProtAcc

Q9H6U6

P22748

Ensembl transtripts involved in fusion geneENST00000589222, ENST00000407086, 
ENST00000390652, ENST00000408905, 
ENST00000588462, ENST00000585744, 
ENST00000588874, ENST00000585812, 
ENST00000300900, 
Fusion gene scores* DoF score40 X 23 X 15=138003 X 2 X 3=18
# samples 474
** MAII scorelog2(47/13800*10)=-4.87586369998789
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(4/18*10)=1.15200309344505
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: BCAS3 [Title/Abstract] AND CA4 [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
HgeneBCAS3

GO:0043085

positive regulation of catalytic activity

17505058

HgeneBCAS3

GO:0045944

positive regulation of transcription by RNA polymerase II

17505058

HgeneBCAS3

GO:0071391

cellular response to estrogen stimulus

17505058


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
TCGALDBRCATCGA-A2-A1FW-01ABCAS3chr17

59161925

+CA4chr17

58247912

+
TCGALDPRADTCGA-ZG-A9KY-01ABCAS3chr17

59001861

+CA4chr17

58247912

+
* 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
5CDS-intronENST00000589222ENST00000300900BCAS3chr17

59161925

+CA4chr17

58247912

+
5CDS-intronENST00000407086ENST00000300900BCAS3chr17

59161925

+CA4chr17

58247912

+
5CDS-intronENST00000390652ENST00000300900BCAS3chr17

59161925

+CA4chr17

58247912

+
5CDS-intronENST00000408905ENST00000300900BCAS3chr17

59161925

+CA4chr17

58247912

+
5CDS-intronENST00000588462ENST00000300900BCAS3chr17

59161925

+CA4chr17

58247912

+
5CDS-intronENST00000585744ENST00000300900BCAS3chr17

59161925

+CA4chr17

58247912

+
5CDS-intronENST00000588874ENST00000300900BCAS3chr17

59161925

+CA4chr17

58247912

+
intron-intronENST00000585812ENST00000300900BCAS3chr17

59161925

+CA4chr17

58247912

+
5CDS-intronENST00000589222ENST00000300900BCAS3chr17

59001861

+CA4chr17

58247912

+
5CDS-intronENST00000407086ENST00000300900BCAS3chr17

59001861

+CA4chr17

58247912

+
5CDS-intronENST00000390652ENST00000300900BCAS3chr17

59001861

+CA4chr17

58247912

+
5CDS-intronENST00000408905ENST00000300900BCAS3chr17

59001861

+CA4chr17

58247912

+
5CDS-intronENST00000588462ENST00000300900BCAS3chr17

59001861

+CA4chr17

58247912

+
5CDS-intronENST00000585744ENST00000300900BCAS3chr17

59001861

+CA4chr17

58247912

+
5CDS-intronENST00000588874ENST00000300900BCAS3chr17

59001861

+CA4chr17

58247912

+
intron-intronENST00000585812ENST00000300900BCAS3chr17

59001861

+CA4chr17

58247912

+

Top

FusionProtFeatures for BCAS3_CA4


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
BCAS3

Q9H6U6

CA4

P22748

Reversible hydration of carbon dioxide. May stimulatethe sodium/bicarbonate transporter activity of SLC4A4 that acts inpH homeostasis. It is essential for acid overload removal from theretina and retina epithelium, and acid release in thechoriocapillaris in the choroid. {ECO:0000269|PubMed:15563508}.

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 BCAS3_CA4


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 BCAS3_CA4


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
BCAS3CTBP1, CTBP2, CDC23, C16orf70, ZDHHC17, ESR1, PELP1, HIST1H3A, KAT2B, WIPI2, ATM, BAG4, CCND1, FBXW7, KRAS, PALB2, PHB, PTPN1, SMAD4, STK11, TGFB1, TSG101, XRCC3, OFD1, CEP128, FBF1, NPHP1, SCLT1, XPO1, CD14, HDAC1, IRF3, MAGEE1, IL17RA, DOCK5, VWA5A, RAB2BCA4SLC4A1, PRDX2, PIH1D1, WTAP, CDK18


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 BCAS3_CA4


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
TgeneCA4P22748DB00232MethyclothiazideCarbonic anhydrase 4small moleculeapproved
TgeneCA4P22748DB00273TopiramateCarbonic anhydrase 4small moleculeapproved
TgeneCA4P22748DB00436BendroflumethiazideCarbonic anhydrase 4small moleculeapproved
TgeneCA4P22748DB00562BenzthiazideCarbonic anhydrase 4small moleculeapproved
TgeneCA4P22748DB00606CyclothiazideCarbonic anhydrase 4small moleculeapproved
TgeneCA4P22748DB00703MethazolamideCarbonic anhydrase 4small moleculeapproved
TgeneCA4P22748DB00869DorzolamideCarbonic anhydrase 4small moleculeapproved
TgeneCA4P22748DB01194BrinzolamideCarbonic anhydrase 4small moleculeapproved
TgeneCA4P22748DB00774HydroflumethiazideCarbonic anhydrase 4small moleculeapproved|investigational
TgeneCA4P22748DB00909ZonisamideCarbonic anhydrase 4small moleculeapproved|investigational
TgeneCA4P22748DB01144DiclofenamideCarbonic anhydrase 4small moleculeapproved|investigational
TgeneCA4P22748DB00819AcetazolamideCarbonic anhydrase 4small moleculeapproved|vet_approved
TgeneCA4P22748DB00880ChlorothiazideCarbonic anhydrase 4small moleculeapproved|vet_approved
TgeneCA4P22748DB00999HydrochlorothiazideCarbonic anhydrase 4small moleculeapproved|vet_approved
TgeneCA4P22748DB01021TrichlormethiazideCarbonic anhydrase 4small moleculeapproved|vet_approved

Top

RelatedDiseases for BCAS3_CA4


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneCA4C1833245Retinitis Pigmentosa 173CTD_human;UNIPROT