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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: 3954

FusionGeneSummary for BCAS3_HEATR6

check button Fusion gene summary
Fusion gene informationFusion gene name: BCAS3_HEATR6
Fusion gene ID: 3954
HgeneTgene
Gene symbol

BCAS3

HEATR6

Gene ID

54828

63897

Gene nameBCAS3, microtubule associated cell migration factorHEAT repeat containing 6
SynonymsGAOB1|MAABABC1
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 Maab1HEAT repeat-containing protein 6amplified in breast cancer 1amplified in breast cancer protein 1
Modification date2018052320180519
UniProtAcc

Q9H6U6

Q6AI08

Ensembl transtripts involved in fusion geneENST00000589222, ENST00000407086, 
ENST00000390652, ENST00000408905, 
ENST00000588462, ENST00000585744, 
ENST00000588874, ENST00000585812, 
ENST00000184956, ENST00000585976, 
ENST00000585712, 
Fusion gene scores* DoF score40 X 23 X 15=1380010 X 9 X 5=450
# samples 4710
** MAII scorelog2(47/13800*10)=-4.87586369998789
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(10/450*10)=-2.16992500144231
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: BCAS3 [Title/Abstract] AND HEATR6 [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
TCGARVBRCATCGA-A2-A0CZ-01ABCAS3chr17

59093262

+HEATR6chr17

58128338

-
* 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
Frame-shiftENST00000589222ENST00000184956BCAS3chr17

59093262

+HEATR6chr17

58128338

-
5CDS-intronENST00000589222ENST00000585976BCAS3chr17

59093262

+HEATR6chr17

58128338

-
5CDS-intronENST00000589222ENST00000585712BCAS3chr17

59093262

+HEATR6chr17

58128338

-
Frame-shiftENST00000407086ENST00000184956BCAS3chr17

59093262

+HEATR6chr17

58128338

-
5CDS-intronENST00000407086ENST00000585976BCAS3chr17

59093262

+HEATR6chr17

58128338

-
5CDS-intronENST00000407086ENST00000585712BCAS3chr17

59093262

+HEATR6chr17

58128338

-
Frame-shiftENST00000390652ENST00000184956BCAS3chr17

59093262

+HEATR6chr17

58128338

-
5CDS-intronENST00000390652ENST00000585976BCAS3chr17

59093262

+HEATR6chr17

58128338

-
5CDS-intronENST00000390652ENST00000585712BCAS3chr17

59093262

+HEATR6chr17

58128338

-
Frame-shiftENST00000408905ENST00000184956BCAS3chr17

59093262

+HEATR6chr17

58128338

-
5CDS-intronENST00000408905ENST00000585976BCAS3chr17

59093262

+HEATR6chr17

58128338

-
5CDS-intronENST00000408905ENST00000585712BCAS3chr17

59093262

+HEATR6chr17

58128338

-
Frame-shiftENST00000588462ENST00000184956BCAS3chr17

59093262

+HEATR6chr17

58128338

-
5CDS-intronENST00000588462ENST00000585976BCAS3chr17

59093262

+HEATR6chr17

58128338

-
5CDS-intronENST00000588462ENST00000585712BCAS3chr17

59093262

+HEATR6chr17

58128338

-
Frame-shiftENST00000585744ENST00000184956BCAS3chr17

59093262

+HEATR6chr17

58128338

-
5CDS-intronENST00000585744ENST00000585976BCAS3chr17

59093262

+HEATR6chr17

58128338

-
5CDS-intronENST00000585744ENST00000585712BCAS3chr17

59093262

+HEATR6chr17

58128338

-
Frame-shiftENST00000588874ENST00000184956BCAS3chr17

59093262

+HEATR6chr17

58128338

-
5CDS-intronENST00000588874ENST00000585976BCAS3chr17

59093262

+HEATR6chr17

58128338

-
5CDS-intronENST00000588874ENST00000585712BCAS3chr17

59093262

+HEATR6chr17

58128338

-
intron-3CDSENST00000585812ENST00000184956BCAS3chr17

59093262

+HEATR6chr17

58128338

-
intron-intronENST00000585812ENST00000585976BCAS3chr17

59093262

+HEATR6chr17

58128338

-
intron-intronENST00000585812ENST00000585712BCAS3chr17

59093262

+HEATR6chr17

58128338

-

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FusionProtFeatures for BCAS3_HEATR6


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

Q9H6U6

HEATR6

Q6AI08

Amplification-dependent oncogene.

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_HEATR6


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_HEATR6


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, RAB2BHEATR6CTDSP1, BSG, SPACA1, HLA-B, CD244, SLAMF1, GAS8, RBM15, RPP30, NTRK1, PTEN, SDC2, SNX21, C1orf85, CD79B, IQCF1, PDCD1, PRKAB1, ICAM1, NTRK3


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_HEATR6


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_HEATR6


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