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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: 37243

FusionGeneSummary for TAPBPL_ACTN4

check button Fusion gene summary
Fusion gene informationFusion gene name: TAPBPL_ACTN4
Fusion gene ID: 37243
HgeneTgene
Gene symbol

TAPBPL

ACTN4

Gene ID

55080

81

Gene nameTAP binding protein likeactinin alpha 4
SynonymsTAPBP-R|TAPBPRACTININ-4|FSGS|FSGS1
Cytomap

12p13.31

19q13.2

Type of geneprotein-codingprotein-coding
Descriptiontapasin-related proteinTAP binding protein relatedTAP-binding protein-related proteinTAPASIN-Rtapasin-likealpha-actinin-4focal segmental glomerulosclerosis 1non-muscle alpha-actinin 4
Modification date2018051920180522
UniProtAcc

Q9BX59

O43707

Ensembl transtripts involved in fusion geneENST00000544021, ENST00000266556, 
ENST00000545700, 
ENST00000252699, 
ENST00000424234, ENST00000390009, 
ENST00000497637, 
Fusion gene scores* DoF score5 X 6 X 1=3019 X 14 X 7=1862
# samples 620
** MAII scorelog2(6/30*10)=1
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
log2(20/1862*10)=-3.21878116778407
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: TAPBPL [Title/Abstract] AND ACTN4 [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
HgeneTAPBPL

GO:0002590

negative regulation of antigen processing and presentation of peptide antigen via MHC class I

23401559

TgeneACTN4

GO:0035357

peroxisome proliferator activated receptor signaling pathway

22351778

TgeneACTN4

GO:0048384

retinoic acid receptor signaling pathway

22351778

TgeneACTN4

GO:0051272

positive regulation of cellular component movement

9508771


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
ChiTaRS3.1BG685833TAPBPLchr12

6571675

-ACTN4chr19

39220670

+
* 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-3UTRENST00000544021ENST00000252699TAPBPLchr12

6571675

-ACTN4chr19

39220670

+
intron-intronENST00000544021ENST00000424234TAPBPLchr12

6571675

-ACTN4chr19

39220670

+
intron-intronENST00000544021ENST00000390009TAPBPLchr12

6571675

-ACTN4chr19

39220670

+
intron-intronENST00000544021ENST00000497637TAPBPLchr12

6571675

-ACTN4chr19

39220670

+
intron-3UTRENST00000266556ENST00000252699TAPBPLchr12

6571675

-ACTN4chr19

39220670

+
intron-intronENST00000266556ENST00000424234TAPBPLchr12

6571675

-ACTN4chr19

39220670

+
intron-intronENST00000266556ENST00000390009TAPBPLchr12

6571675

-ACTN4chr19

39220670

+
intron-intronENST00000266556ENST00000497637TAPBPLchr12

6571675

-ACTN4chr19

39220670

+
intron-3UTRENST00000545700ENST00000252699TAPBPLchr12

6571675

-ACTN4chr19

39220670

+
intron-intronENST00000545700ENST00000424234TAPBPLchr12

6571675

-ACTN4chr19

39220670

+
intron-intronENST00000545700ENST00000390009TAPBPLchr12

6571675

-ACTN4chr19

39220670

+
intron-intronENST00000545700ENST00000497637TAPBPLchr12

6571675

-ACTN4chr19

39220670

+

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FusionProtFeatures for TAPBPL_ACTN4


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

Q9BX59

ACTN4

O43707

Component of the antigen processing and presentationpathway, which binds to MHC class I coupled with beta2-microglobulin/B2M. Association between TAPBPR and MHC class Ioccurs in the absence of a functional peptide-loading complex(PLC). Expression seems to slow down and down-regulate MHC class Isurface expression. {ECO:0000269|PubMed:23401559}. F-actin cross-linking protein which is thought to anchoractin to a variety of intracellular structures. This is a bundlingprotein (Probable). Probably involved in vesicular trafficking viaits association with the CART complex. The CART complex isnecessary for efficient transferrin receptor recycling but not forEGFR degradation (PubMed:15772161). Involved in tight junctionassembly in epithelial cells probably through interaction withMICALL2. Links MICALL2 to the actin cytoskeleton and recruits itto the tight junctions (By similarity). May also function as atranscriptional coactivator, stimulating transcription mediated bythe nuclear hormone receptors PPARG and RARA (PubMed:22351778).{ECO:0000250|UniProtKB:P57780, ECO:0000269|PubMed:15772161,ECO:0000269|PubMed:22351778, ECO:0000305|PubMed:9508771}.

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 TAPBPL_ACTN4


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 TAPBPL_ACTN4


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 TAPBPL_ACTN4


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 TAPBPL_ACTN4


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneACTN4C0333497Segmental glomerulosclerosis3UNIPROT
TgeneACTN4C0024667Animal Mammary Neoplasms1CTD_human
TgeneACTN4C0024668Mammary Neoplasms, Experimental1CTD_human