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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: 606

FusionGeneSummary for ACTN4_TXNDC12

check button Fusion gene summary
Fusion gene informationFusion gene name: ACTN4_TXNDC12
Fusion gene ID: 606
HgeneTgene
Gene symbol

ACTN4

TXNDC12

Gene ID

81

51060

Gene nameactinin alpha 4thioredoxin domain containing 12
SynonymsACTININ-4|FSGS|FSGS1AG1|AGR1|ERP16|ERP18|ERP19|PDIA16|TLP19|hAG-1|hTLP19
Cytomap

19q13.2

1p32.3

Type of geneprotein-codingprotein-coding
Descriptionalpha-actinin-4focal segmental glomerulosclerosis 1non-muscle alpha-actinin 4thioredoxin domain-containing protein 12ER protein 18ER protein 19anterior gradient homolog 1endoplasmic reticulum protein ERp19endoplasmic reticulum resident protein 18endoplasmic reticulum resident protein 19endoplasmic reticulum thioredoxin supe
Modification date2018052220180523
UniProtAcc

O43707

O95881

Ensembl transtripts involved in fusion geneENST00000252699, ENST00000424234, 
ENST00000390009, ENST00000497637, 
ENST00000371626, ENST00000471493, 
ENST00000610127, 
Fusion gene scores* DoF score28 X 17 X 13=61881 X 1 X 1=1
# samples 301
** MAII scorelog2(30/6188*10)=-4.36643879095316
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(1/1*10)=3.32192809488736
Context

PubMed: ACTN4 [Title/Abstract] AND TXNDC12 [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
HgeneACTN4

GO:0035357

peroxisome proliferator activated receptor signaling pathway

22351778

HgeneACTN4

GO:0048384

retinoic acid receptor signaling pathway

22351778

HgeneACTN4

GO:0051272

positive regulation of cellular component movement

9508771

TgeneTXNDC12

GO:1902236

negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway

18628206


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
TCGARVGBMTCGA-14-1034-02BACTN4chr19

39138547

+TXNDC12chr1

52507269

-
* 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-shitENST00000252699ENST00000371626ACTN4chr19

39138547

+TXNDC12chr1

52507269

-
5CDS-intronENST00000252699ENST00000471493ACTN4chr19

39138547

+TXNDC12chr1

52507269

-
5CDS-intronENST00000252699ENST00000610127ACTN4chr19

39138547

+TXNDC12chr1

52507269

-
Frame-shitENST00000424234ENST00000371626ACTN4chr19

39138547

+TXNDC12chr1

52507269

-
5CDS-intronENST00000424234ENST00000471493ACTN4chr19

39138547

+TXNDC12chr1

52507269

-
5CDS-intronENST00000424234ENST00000610127ACTN4chr19

39138547

+TXNDC12chr1

52507269

-
Frame-shitENST00000390009ENST00000371626ACTN4chr19

39138547

+TXNDC12chr1

52507269

-
5CDS-intronENST00000390009ENST00000471493ACTN4chr19

39138547

+TXNDC12chr1

52507269

-
5CDS-intronENST00000390009ENST00000610127ACTN4chr19

39138547

+TXNDC12chr1

52507269

-
intron-3CDSENST00000497637ENST00000371626ACTN4chr19

39138547

+TXNDC12chr1

52507269

-
intron-intronENST00000497637ENST00000471493ACTN4chr19

39138547

+TXNDC12chr1

52507269

-
intron-intronENST00000497637ENST00000610127ACTN4chr19

39138547

+TXNDC12chr1

52507269

-

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FusionProtFeatures for ACTN4_TXNDC12


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
ACTN4

O43707

TXNDC12

O95881

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}. Possesses significant protein thiol-disulfide oxidaseactivity. {ECO:0000269|PubMed:12761212}.

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 ACTN4_TXNDC12


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 ACTN4_TXNDC12


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
ACTN4MYOZ2, MYOZ1, PDLIM1, USP6NL, SLC9A3R2, COL17A1, TRIM3, MAGI1, GSN, CAMK2A, CAMK2B, INO80, UBTF, STAT1, HDAC7, MEF2A, UCHL5, TJP1, ATXN7, HDAC5, VDR, ESR1, PSMA3, ELAVL1, SIRT7, SLC2A4, ISG15, COIL, SACS, HGS, UBASH3B, SHC1, NOS3, ACTN2, ACTN1, FMNL1, TRAF3IP1, FN1, VCAM1, CDH1, ITGA4, SVIL, CD81, IGSF8, ICAM1, TXN, RPS27, POT1, KPNA2, MAPK7, CDKN2A, VCP, SF3A3, GNB2, HUWE1, ACTN3, BMP7, ALK, CUL7, OBSL1, CCDC8, EGFR, LUZP4, RARA, HSPB1, AHNAK, ALDOA, ALDOC, IDH3A, MYH15, MYH2, MYH7B, NCAPG2, PSMA6, PSMB5, PUS7, TPM2, TSG101, CKB, CYC1, ECSIT, MCFD2, PSMB8, TPM1, TPM3, TPM4, NTRK1, CAPZA2, DBN1, FLNA, MYH9, MYO1C, PPP1CB, IQGAP1, PDLIM7, SYNPO, MAPRE1, SIN3B, MYEF2, LIMA1, ANLN, MYO5C, MYO19, MYO18A, CTNNB1, MCM2, NFYA, CDC73, DDIAS, SSH1, NCL, DLD, DNM1L, PDHA1, SOD1, TRIM25, TESTXNDC12H2AFX, TXLNA, TLN1, NPM1, SGTA, KLHL2, UBQLN1, SGTB, ZDHHC17, IQGAP2, VBP1, SBF2, TUBGCP4, TUBGCP5, MZT2A, TUBGCP6, MZT2B, TUBGCP3, TUBGCP2, NME7, TUBG1, TM2D3, PTPRO, TRIM25


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 ACTN4_TXNDC12


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
TgeneTXNDC12O95881DB00143GlutathioneThioredoxin domain-containing protein 12small moleculeapproved|investigational|nutraceutical

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RelatedDiseases for ACTN4_TXNDC12


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneACTN4C0333497Segmental glomerulosclerosis3UNIPROT
HgeneACTN4C0024667Animal Mammary Neoplasms1CTD_human
HgeneACTN4C0024668Mammary Neoplasms, Experimental1CTD_human