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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: 113

FusionGeneSummary for ABCA5_BCAS3

check button Fusion gene summary
Fusion gene informationFusion gene name: ABCA5_BCAS3
Fusion gene ID: 113
HgeneTgene
Gene symbol

ABCA5

BCAS3

Gene ID

23461

54828

Gene nameATP binding cassette subfamily A member 5BCAS3, microtubule associated cell migration factor
SynonymsABC13|EST90625GAOB1|MAAB
Cytomap

17q24.3

17q23.2

Type of geneprotein-codingprotein-coding
DescriptionATP-binding cassette sub-family A member 5ATP-binding cassette A5ATP-binding cassette, sub-family A (ABC1), member 5breast carcinoma-amplified sequence 3BCAS4/BCAS3 fusionRudhirabreast carcinoma amplified sequence 4/3 fusion proteinmetastasis associated antigen of breast cancerprotein Maab1
Modification date2018052320180523
UniProtAcc

Q8WWZ7

Q9H6U6

Ensembl transtripts involved in fusion geneENST00000392676, ENST00000392677, 
ENST00000588877, ENST00000589609, 
ENST00000589222, ENST00000407086, 
ENST00000390652, ENST00000408905, 
ENST00000588462, ENST00000585744, 
ENST00000588874, ENST00000585812, 
Fusion gene scores* DoF score6 X 6 X 4=14426 X 15 X 15=5850
# samples 641
** MAII scorelog2(6/144*10)=-1.26303440583379
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(41/5850*10)=-3.83474080985268
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: ABCA5 [Title/Abstract] AND BCAS3 [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
TgeneBCAS3

GO:0043085

positive regulation of catalytic activity

17505058

TgeneBCAS3

GO:0045944

positive regulation of transcription by RNA polymerase II

17505058

TgeneBCAS3

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-A3XZ-01AABCA5chr17

67323193

-BCAS3chr17

58786580

+
* 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
5UTR-3CDSENST00000392676ENST00000589222ABCA5chr17

67323193

-BCAS3chr17

58786580

+
5UTR-3CDSENST00000392676ENST00000407086ABCA5chr17

67323193

-BCAS3chr17

58786580

+
5UTR-3CDSENST00000392676ENST00000390652ABCA5chr17

67323193

-BCAS3chr17

58786580

+
5UTR-3CDSENST00000392676ENST00000408905ABCA5chr17

67323193

-BCAS3chr17

58786580

+
5UTR-3CDSENST00000392676ENST00000588462ABCA5chr17

67323193

-BCAS3chr17

58786580

+
5UTR-intronENST00000392676ENST00000585744ABCA5chr17

67323193

-BCAS3chr17

58786580

+
5UTR-intronENST00000392676ENST00000588874ABCA5chr17

67323193

-BCAS3chr17

58786580

+
5UTR-intronENST00000392676ENST00000585812ABCA5chr17

67323193

-BCAS3chr17

58786580

+
5UTR-3CDSENST00000392677ENST00000589222ABCA5chr17

67323193

-BCAS3chr17

58786580

+
5UTR-3CDSENST00000392677ENST00000407086ABCA5chr17

67323193

-BCAS3chr17

58786580

+
5UTR-3CDSENST00000392677ENST00000390652ABCA5chr17

67323193

-BCAS3chr17

58786580

+
5UTR-3CDSENST00000392677ENST00000408905ABCA5chr17

67323193

-BCAS3chr17

58786580

+
5UTR-3CDSENST00000392677ENST00000588462ABCA5chr17

67323193

-BCAS3chr17

58786580

+
5UTR-intronENST00000392677ENST00000585744ABCA5chr17

67323193

-BCAS3chr17

58786580

+
5UTR-intronENST00000392677ENST00000588874ABCA5chr17

67323193

-BCAS3chr17

58786580

+
5UTR-intronENST00000392677ENST00000585812ABCA5chr17

67323193

-BCAS3chr17

58786580

+
intron-3CDSENST00000588877ENST00000589222ABCA5chr17

67323193

-BCAS3chr17

58786580

+
intron-3CDSENST00000588877ENST00000407086ABCA5chr17

67323193

-BCAS3chr17

58786580

+
intron-3CDSENST00000588877ENST00000390652ABCA5chr17

67323193

-BCAS3chr17

58786580

+
intron-3CDSENST00000588877ENST00000408905ABCA5chr17

67323193

-BCAS3chr17

58786580

+
intron-3CDSENST00000588877ENST00000588462ABCA5chr17

67323193

-BCAS3chr17

58786580

+
intron-intronENST00000588877ENST00000585744ABCA5chr17

67323193

-BCAS3chr17

58786580

+
intron-intronENST00000588877ENST00000588874ABCA5chr17

67323193

-BCAS3chr17

58786580

+
intron-intronENST00000588877ENST00000585812ABCA5chr17

67323193

-BCAS3chr17

58786580

+
5UTR-3CDSENST00000589609ENST00000589222ABCA5chr17

67323193

-BCAS3chr17

58786580

+
5UTR-3CDSENST00000589609ENST00000407086ABCA5chr17

67323193

-BCAS3chr17

58786580

+
5UTR-3CDSENST00000589609ENST00000390652ABCA5chr17

67323193

-BCAS3chr17

58786580

+
5UTR-3CDSENST00000589609ENST00000408905ABCA5chr17

67323193

-BCAS3chr17

58786580

+
5UTR-3CDSENST00000589609ENST00000588462ABCA5chr17

67323193

-BCAS3chr17

58786580

+
5UTR-intronENST00000589609ENST00000585744ABCA5chr17

67323193

-BCAS3chr17

58786580

+
5UTR-intronENST00000589609ENST00000588874ABCA5chr17

67323193

-BCAS3chr17

58786580

+
5UTR-intronENST00000589609ENST00000585812ABCA5chr17

67323193

-BCAS3chr17

58786580

+

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FusionProtFeatures for ABCA5_BCAS3


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
ABCA5

Q8WWZ7

BCAS3

Q9H6U6

May play a role in the processing of autolysosomes.{ECO:0000250}.

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 ABCA5_BCAS3


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 ABCA5_BCAS3


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
ABCA5CYP2E1, NR4A1BCAS3CTBP1, 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, RAB2B


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 ABCA5_BCAS3


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 ABCA5_BCAS3


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneABCA5C0009404Colorectal Neoplasms1CTD_human