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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: 514

FusionGeneSummary for ACTB_BSG

check button Fusion gene summary
Fusion gene informationFusion gene name: ACTB_BSG
Fusion gene ID: 514
HgeneTgene
Gene symbol

ACTB

BSG

Gene ID

60

682

Gene nameactin betabasigin (Ok blood group)
SynonymsBRWS1|PS1TP5BP15F7|CD147|EMMPRIN|EMPRIN|OK|TCSF
Cytomap

7p22.1

19p13.3

Type of geneprotein-codingprotein-coding
Descriptionactin, cytoplasmic 1I(2)-actinPS1TP5-binding protein 1beta cytoskeletal actinbasiginOK blood group antigencollagenase stimulatory factorextracellular matrix metalloproteinase inducerleukocyte activation antigen M6tumor cell-derived collagenase stimulatory factor
Modification date2018052220180522
UniProtAcc

P60709

P35613

Ensembl transtripts involved in fusion geneENST00000464611, ENST00000331789, 
ENST00000346916, ENST00000545507, 
ENST00000333511, ENST00000353555, 
ENST00000574970, 
Fusion gene scores* DoF score28 X 19 X 14=74484 X 7 X 3=84
# samples 3710
** MAII scorelog2(37/7448*10)=-4.33125589704248
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(10/84*10)=0.251538766995964
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: ACTB [Title/Abstract] AND BSG [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
HgeneACTB

GO:0098974

postsynaptic actin cytoskeleton organization

18341992


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
ChiTaRS3.1BP379102ACTBchr7

5568820

-BSGchr19

580716

+
* 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-3CDSENST00000464611ENST00000346916ACTBchr7

5568820

-BSGchr19

580716

+
intron-3CDSENST00000464611ENST00000545507ACTBchr7

5568820

-BSGchr19

580716

+
intron-3CDSENST00000464611ENST00000333511ACTBchr7

5568820

-BSGchr19

580716

+
intron-3CDSENST00000464611ENST00000353555ACTBchr7

5568820

-BSGchr19

580716

+
intron-intronENST00000464611ENST00000574970ACTBchr7

5568820

-BSGchr19

580716

+
intron-3CDSENST00000331789ENST00000346916ACTBchr7

5568820

-BSGchr19

580716

+
intron-3CDSENST00000331789ENST00000545507ACTBchr7

5568820

-BSGchr19

580716

+
intron-3CDSENST00000331789ENST00000333511ACTBchr7

5568820

-BSGchr19

580716

+
intron-3CDSENST00000331789ENST00000353555ACTBchr7

5568820

-BSGchr19

580716

+
intron-intronENST00000331789ENST00000574970ACTBchr7

5568820

-BSGchr19

580716

+

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FusionProtFeatures for ACTB_BSG


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

P60709

BSG

P35613

Plays an important role in targeting the monocarboxylatetransporters SLC16A1, SLC16A3, SLC16A8 and SLC16A11 to the plasmamembrane. Plays pivotal roles in spermatogenesis, embryoimplantation, neural network formation and tumor progression.Stimulates adjacent fibroblasts to produce matrixmetalloproteinases (MMPS). Seems to be a receptor foroligomannosidic glycans. In vitro, promotes outgrowth ofastrocytic processes. {ECO:0000269|PubMed:17127621,ECO:0000269|PubMed:28666119}.

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 ACTB_BSG


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 ACTB_BSG


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


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RelatedDrugs for ACTB_BSG


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 ACTB_BSG


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneACTBC2239176Liver carcinoma2CTD_human
HgeneACTBC0005586Bipolar Disorder1PSYGENET
HgeneACTBC0009363Congenital ocular coloboma (disorder)1CTD_human
HgeneACTBC0013393Dysostoses1CTD_human
HgeneACTBC0013421Dystonia1CTD_human
HgeneACTBC0014859Esophageal Neoplasms1CTD_human
HgeneACTBC0018784Sensorineural Hearing Loss (disorder)1CTD_human;HPO
HgeneACTBC0024121Lung Neoplasms1CTD_human
HgeneACTBC0024667Animal Mammary Neoplasms1CTD_human
HgeneACTBC0024668Mammary Neoplasms, Experimental1CTD_human
HgeneACTBC0027626Neoplasm Invasiveness1CTD_human
HgeneACTBC0029408Degenerative polyarthritis1CTD_human
HgeneACTBC0036341Schizophrenia1PSYGENET
HgeneACTBC0151744Myocardial Ischemia1CTD_human
HgeneACTBC0242184Hypoxia1CTD_human
HgeneACTBC0376634Craniofacial Abnormalities1CTD_human
HgeneACTBC0497552Congenital neurologic anomalies1CTD_human
HgeneACTBC1846331Juvenile-onset dystonia1CTD_human;ORPHANET;UNIPROT
HgeneACTBC1855722Iris Coloboma with Ptosis, Hypertelorism, and Mental Retardation1ORPHANET;UNIPROT
TgeneBSGC0027626Neoplasm Invasiveness1CTD_human
TgeneBSGC0027627Neoplasm Metastasis1CTD_human
TgeneBSGC0027659Neoplasms, Experimental1CTD_human
TgeneBSGC0036341Schizophrenia1PSYGENET
TgeneBSGC1862939AMYOTROPHIC LATERAL SCLEROSIS 11CTD_human
TgeneBSGC2936350Plaque, Atherosclerotic1CTD_human