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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: 3958

FusionGeneSummary for BCAS3_PHF21A

check button Fusion gene summary
Fusion gene informationFusion gene name: BCAS3_PHF21A
Fusion gene ID: 3958
HgeneTgene
Gene symbol

BCAS3

PHF21A

Gene ID

54828

51317

Gene nameBCAS3, microtubule associated cell migration factorPHD finger protein 21A
SynonymsGAOB1|MAABBHC80|BM-006
Cytomap

17q23.2

11p11.2

Type of geneprotein-codingprotein-coding
Descriptionbreast carcinoma-amplified sequence 3BCAS4/BCAS3 fusionRudhirabreast carcinoma amplified sequence 4/3 fusion proteinmetastasis associated antigen of breast cancerprotein Maab1PHD finger protein 21ABHC80aBRAF35-HDAC complex protein BHC80BRAF35/HDAC2 complex (80 kDa)
Modification date2018052320180523
UniProtAcc

Q9H6U6

Q96BD5

Ensembl transtripts involved in fusion geneENST00000589222, ENST00000407086, 
ENST00000390652, ENST00000408905, 
ENST00000588462, ENST00000585744, 
ENST00000588874, ENST00000585812, 
ENST00000257821, ENST00000323180, 
ENST00000418153, ENST00000527753, 
Fusion gene scores* DoF score40 X 23 X 15=138007 X 7 X 4=196
# samples 479
** MAII scorelog2(47/13800*10)=-4.87586369998789
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(9/196*10)=-1.12285674778553
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: BCAS3 [Title/Abstract] AND PHF21A [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
TCGARVPCPGTCGA-QR-A70G-01BBCAS3chr17

58761397

+PHF21Achr11

46113774

-
* 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-5UTRENST00000589222ENST00000257821BCAS3chr17

58761397

+PHF21Achr11

46113774

-
5CDS-5UTRENST00000589222ENST00000323180BCAS3chr17

58761397

+PHF21Achr11

46113774

-
5CDS-5UTRENST00000589222ENST00000418153BCAS3chr17

58761397

+PHF21Achr11

46113774

-
5CDS-intronENST00000589222ENST00000527753BCAS3chr17

58761397

+PHF21Achr11

46113774

-
5CDS-5UTRENST00000407086ENST00000257821BCAS3chr17

58761397

+PHF21Achr11

46113774

-
5CDS-5UTRENST00000407086ENST00000323180BCAS3chr17

58761397

+PHF21Achr11

46113774

-
5CDS-5UTRENST00000407086ENST00000418153BCAS3chr17

58761397

+PHF21Achr11

46113774

-
5CDS-intronENST00000407086ENST00000527753BCAS3chr17

58761397

+PHF21Achr11

46113774

-
5CDS-5UTRENST00000390652ENST00000257821BCAS3chr17

58761397

+PHF21Achr11

46113774

-
5CDS-5UTRENST00000390652ENST00000323180BCAS3chr17

58761397

+PHF21Achr11

46113774

-
5CDS-5UTRENST00000390652ENST00000418153BCAS3chr17

58761397

+PHF21Achr11

46113774

-
5CDS-intronENST00000390652ENST00000527753BCAS3chr17

58761397

+PHF21Achr11

46113774

-
5CDS-5UTRENST00000408905ENST00000257821BCAS3chr17

58761397

+PHF21Achr11

46113774

-
5CDS-5UTRENST00000408905ENST00000323180BCAS3chr17

58761397

+PHF21Achr11

46113774

-
5CDS-5UTRENST00000408905ENST00000418153BCAS3chr17

58761397

+PHF21Achr11

46113774

-
5CDS-intronENST00000408905ENST00000527753BCAS3chr17

58761397

+PHF21Achr11

46113774

-
5CDS-5UTRENST00000588462ENST00000257821BCAS3chr17

58761397

+PHF21Achr11

46113774

-
5CDS-5UTRENST00000588462ENST00000323180BCAS3chr17

58761397

+PHF21Achr11

46113774

-
5CDS-5UTRENST00000588462ENST00000418153BCAS3chr17

58761397

+PHF21Achr11

46113774

-
5CDS-intronENST00000588462ENST00000527753BCAS3chr17

58761397

+PHF21Achr11

46113774

-
intron-5UTRENST00000585744ENST00000257821BCAS3chr17

58761397

+PHF21Achr11

46113774

-
intron-5UTRENST00000585744ENST00000323180BCAS3chr17

58761397

+PHF21Achr11

46113774

-
intron-5UTRENST00000585744ENST00000418153BCAS3chr17

58761397

+PHF21Achr11

46113774

-
intron-intronENST00000585744ENST00000527753BCAS3chr17

58761397

+PHF21Achr11

46113774

-
intron-5UTRENST00000588874ENST00000257821BCAS3chr17

58761397

+PHF21Achr11

46113774

-
intron-5UTRENST00000588874ENST00000323180BCAS3chr17

58761397

+PHF21Achr11

46113774

-
intron-5UTRENST00000588874ENST00000418153BCAS3chr17

58761397

+PHF21Achr11

46113774

-
intron-intronENST00000588874ENST00000527753BCAS3chr17

58761397

+PHF21Achr11

46113774

-
intron-5UTRENST00000585812ENST00000257821BCAS3chr17

58761397

+PHF21Achr11

46113774

-
intron-5UTRENST00000585812ENST00000323180BCAS3chr17

58761397

+PHF21Achr11

46113774

-
intron-5UTRENST00000585812ENST00000418153BCAS3chr17

58761397

+PHF21Achr11

46113774

-
intron-intronENST00000585812ENST00000527753BCAS3chr17

58761397

+PHF21Achr11

46113774

-

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FusionProtFeatures for BCAS3_PHF21A


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

Q9H6U6

PHF21A

Q96BD5

Component of the BHC complex, a corepressor complex thatrepresses transcription of neuron-specific genes in non-neuronalcells. The BHC complex is recruited at RE1/NRSE sites by REST andacts by deacetylating and demethylating specific sites onhistones, thereby acting as a chromatin modifier. In the BHCcomplex, it may act as a scaffold. Inhibits KDM1A-mediateddemethylation of 'Lys-4' of histone H3 in vitro, suggesting a rolein demethylation regulation. {ECO:0000269|PubMed:16140033}.

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 BCAS3_PHF21A


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 BCAS3_PHF21A


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, RAB2BPHF21ALPXN, HDAC1, KDM1A, HMG20B, RCOR1, HDAC2, GTF2I, TAF10, ESCO2, HIST2H3C, ELAVL1, HIST3H3, FHL3, TRAF1, ZYX, NUP62, BANP, KRT40, SCLT1, CD14, KIF22, LLGL2, SOD1, MYH13, NUPL1, HMG20A, NAF1, IP6K3, RBPJ, EXOC1, MAX, ARNTL, RPRD1A, HAUS6, PHLDB3, PTRF, OIP5, CCDC93, CCDC132, DZIP3, GRIPAP1, VPS53, PSMD9, CLOCK, RABGAP1L, GOLGA5, TUFT1, YEATS4, CCHCR1, TFPT, NCKAP5L, PKN3, GIT2, RABGEF1, NUF2, THAP11, VPS51, JUN, TSSC1


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 BCAS3_PHF21A


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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RelatedDiseases for BCAS3_PHF21A


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource