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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: 556

FusionGeneSummary for ACTG1_PLEKHA5

check button Fusion gene summary
Fusion gene informationFusion gene name: ACTG1_PLEKHA5
Fusion gene ID: 556
HgeneTgene
Gene symbol

ACTG1

PLEKHA5

Gene ID

71

54477

Gene nameactin gamma 1pleckstrin homology domain containing A5
SynonymsACT|ACTG|DFNA20|DFNA26|HEL-176PEPP-2|PEPP2
Cytomap

17q25.3

12p12.3

Type of geneprotein-codingprotein-coding
Descriptionactin, cytoplasmic 2cytoskeletal gamma-actinepididymis luminal protein 176pleckstrin homology domain-containing family A member 5PH domain-containing family A member 5phosphoinositol 3-phosphate-binding protein-2pleckstrin homology domain containing, family A member 5
Modification date2018052220180519
UniProtAcc

P63261

Q9HAU0

Ensembl transtripts involved in fusion geneENST00000331925, ENST00000573283, 
ENST00000575842, ENST00000575087, 
ENST00000309364, ENST00000359180, 
ENST00000317589, ENST00000355397, 
ENST00000429027, ENST00000539256, 
ENST00000299275, ENST00000538714, 
ENST00000543806, ENST00000424268, 
ENST00000540972, ENST00000510738, 
Fusion gene scores* DoF score25 X 19 X 11=522521 X 8 X 13=2184
# samples 3422
** MAII scorelog2(34/5225*10)=-3.94182438571791
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(22/2184*10)=-3.31139742739519
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: ACTG1 [Title/Abstract] AND PLEKHA5 [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

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
TCGARVLUADTCGA-73-4666-01AACTG1chr17

79476999

-PLEKHA5chr12

19441012

+
* 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
5CDS-intronENST00000331925ENST00000309364ACTG1chr17

79476999

-PLEKHA5chr12

19441012

+
5CDS-intronENST00000331925ENST00000359180ACTG1chr17

79476999

-PLEKHA5chr12

19441012

+
5CDS-intronENST00000331925ENST00000317589ACTG1chr17

79476999

-PLEKHA5chr12

19441012

+
5CDS-intronENST00000331925ENST00000355397ACTG1chr17

79476999

-PLEKHA5chr12

19441012

+
5CDS-intronENST00000331925ENST00000429027ACTG1chr17

79476999

-PLEKHA5chr12

19441012

+
5CDS-intronENST00000331925ENST00000539256ACTG1chr17

79476999

-PLEKHA5chr12

19441012

+
5CDS-intronENST00000331925ENST00000299275ACTG1chr17

79476999

-PLEKHA5chr12

19441012

+
5CDS-intronENST00000331925ENST00000538714ACTG1chr17

79476999

-PLEKHA5chr12

19441012

+
5CDS-intronENST00000331925ENST00000543806ACTG1chr17

79476999

-PLEKHA5chr12

19441012

+
5CDS-intronENST00000331925ENST00000424268ACTG1chr17

79476999

-PLEKHA5chr12

19441012

+
5CDS-intronENST00000331925ENST00000540972ACTG1chr17

79476999

-PLEKHA5chr12

19441012

+
5CDS-intronENST00000331925ENST00000510738ACTG1chr17

79476999

-PLEKHA5chr12

19441012

+
intron-intronENST00000573283ENST00000309364ACTG1chr17

79476999

-PLEKHA5chr12

19441012

+
intron-intronENST00000573283ENST00000359180ACTG1chr17

79476999

-PLEKHA5chr12

19441012

+
intron-intronENST00000573283ENST00000317589ACTG1chr17

79476999

-PLEKHA5chr12

19441012

+
intron-intronENST00000573283ENST00000355397ACTG1chr17

79476999

-PLEKHA5chr12

19441012

+
intron-intronENST00000573283ENST00000429027ACTG1chr17

79476999

-PLEKHA5chr12

19441012

+
intron-intronENST00000573283ENST00000539256ACTG1chr17

79476999

-PLEKHA5chr12

19441012

+
intron-intronENST00000573283ENST00000299275ACTG1chr17

79476999

-PLEKHA5chr12

19441012

+
intron-intronENST00000573283ENST00000538714ACTG1chr17

79476999

-PLEKHA5chr12

19441012

+
intron-intronENST00000573283ENST00000543806ACTG1chr17

79476999

-PLEKHA5chr12

19441012

+
intron-intronENST00000573283ENST00000424268ACTG1chr17

79476999

-PLEKHA5chr12

19441012

+
intron-intronENST00000573283ENST00000540972ACTG1chr17

79476999

-PLEKHA5chr12

19441012

+
intron-intronENST00000573283ENST00000510738ACTG1chr17

79476999

-PLEKHA5chr12

19441012

+
intron-intronENST00000575842ENST00000309364ACTG1chr17

79476999

-PLEKHA5chr12

19441012

+
intron-intronENST00000575842ENST00000359180ACTG1chr17

79476999

-PLEKHA5chr12

19441012

+
intron-intronENST00000575842ENST00000317589ACTG1chr17

79476999

-PLEKHA5chr12

19441012

+
intron-intronENST00000575842ENST00000355397ACTG1chr17

79476999

-PLEKHA5chr12

19441012

+
intron-intronENST00000575842ENST00000429027ACTG1chr17

79476999

-PLEKHA5chr12

19441012

+
intron-intronENST00000575842ENST00000539256ACTG1chr17

79476999

-PLEKHA5chr12

19441012

+
intron-intronENST00000575842ENST00000299275ACTG1chr17

79476999

-PLEKHA5chr12

19441012

+
intron-intronENST00000575842ENST00000538714ACTG1chr17

79476999

-PLEKHA5chr12

19441012

+
intron-intronENST00000575842ENST00000543806ACTG1chr17

79476999

-PLEKHA5chr12

19441012

+
intron-intronENST00000575842ENST00000424268ACTG1chr17

79476999

-PLEKHA5chr12

19441012

+
intron-intronENST00000575842ENST00000540972ACTG1chr17

79476999

-PLEKHA5chr12

19441012

+
intron-intronENST00000575842ENST00000510738ACTG1chr17

79476999

-PLEKHA5chr12

19441012

+
intron-intronENST00000575087ENST00000309364ACTG1chr17

79476999

-PLEKHA5chr12

19441012

+
intron-intronENST00000575087ENST00000359180ACTG1chr17

79476999

-PLEKHA5chr12

19441012

+
intron-intronENST00000575087ENST00000317589ACTG1chr17

79476999

-PLEKHA5chr12

19441012

+
intron-intronENST00000575087ENST00000355397ACTG1chr17

79476999

-PLEKHA5chr12

19441012

+
intron-intronENST00000575087ENST00000429027ACTG1chr17

79476999

-PLEKHA5chr12

19441012

+
intron-intronENST00000575087ENST00000539256ACTG1chr17

79476999

-PLEKHA5chr12

19441012

+
intron-intronENST00000575087ENST00000299275ACTG1chr17

79476999

-PLEKHA5chr12

19441012

+
intron-intronENST00000575087ENST00000538714ACTG1chr17

79476999

-PLEKHA5chr12

19441012

+
intron-intronENST00000575087ENST00000543806ACTG1chr17

79476999

-PLEKHA5chr12

19441012

+
intron-intronENST00000575087ENST00000424268ACTG1chr17

79476999

-PLEKHA5chr12

19441012

+
intron-intronENST00000575087ENST00000540972ACTG1chr17

79476999

-PLEKHA5chr12

19441012

+
intron-intronENST00000575087ENST00000510738ACTG1chr17

79476999

-PLEKHA5chr12

19441012

+

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FusionProtFeatures for ACTG1_PLEKHA5


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
ACTG1

P63261

PLEKHA5

Q9HAU0

Actins are highly conserved proteins that are involvedin various types of cell motility and are ubiquitously expressedin all eukaryotic cells.

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 ACTG1_PLEKHA5


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 ACTG1_PLEKHA5


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
ACTG1CFL2, CFL1, ACTG1, ACTB, DSTN, CDH1, TMSB4X, FHOD1, EPS8L1, EPS8L2, FEZ1, CTNND1, ST3GAL3, SH3GL2, EIF6, PFN2, PRSS23, BCAP31, RBX1, MDK, CAP1, CAP2, RUVBL2, MEPCE, RUVBL1, MORF4L1, MORF4L2, MRGBP, DMAP1, KAT5, POU5F1, UCHL5, YWHAQ, DISC1, TNIK, RPS6KA5, MAPK6, NDRG1, SP1, UBE2Q2, FBXO25, MYOC, LRRK2, APOE, PSEN2, BRCA1, LIG4, TSGA10, TRAF3IP1, GZMK, GZMA, HSP90AA1, HSP90AB1, PPP1CC, MYC, MLH1, UBL4A, ITGA4, ILF3, AICDA, WIPF1, FN1, CTTN, ADRB2, PLD1, CTBP2, GIT2, GRB2, COTL1, WASL, FBXO6, TOPBP1, CDKN2A, ACTA1, ACTBL2, BRK1, HSPA5, UBASH3B, ERRFI1, LGR4, EHHADH, CCDC22, WDYHV1, CCDC101, CCDC8, EZH2, SUZ12, EED, RNF2, BMI1, FAF2, RPS6KB2, CORO1B, CORO1C, CAD, EEF1A1, EEF1A2, NCKAP1, RAN, YARS, SFN, HSPB2, SRPK2, HIST1H3E, CAPZA2, CDK2, DBN1, FLNA, MYH9, MYO1C, PPP1CB, VCL, IQGAP1, PDLIM7, LIMA1, ANLN, MYO5C, MYO19, MYO18A, TRAF2, VASP, GAN, MCM2, SHC1, ERBB3, RC3H1, DUSP19, C17orf89, MCPH1, HDAC6PLEKHA5DES, EVPL, EXTL3, KRT19, KTN1, LAMB2, PLEC, SPTAN1, SPTBN1, PROM1, CEP350, KIF3A, CEP250, PLEKHA6, ARHGEF9, PPP1R13B, BLOC1S6, KRT20, MAX, PLEKHA5, CCDC186, CCDC92, SH3BP5L, CCDC88B, KANSL1, SOGA1, WASH2P, ELAVL1, SH3KBP1, LSM4, UPF1, LATS2, YWHAB, CIAO1, AURKB, PDZD11, FHL3, GINM1, SRPK2, KIAA0753, SPICE1, DCTN1, DYNLT1, POC1A, TMEM17, XPO1, CLTC, HIF1A, KIF11, PPP2CB, PPP2R1A, SEC16A, CDH1, SSSCA1, IL17RA, KCTD3, KIF13B, ZBTB21, KSR1, GIGYF1, LRFN1, DENND1A, SH3PXD2A, SRGAP2, EIF4E2, SIPA1L1, LIMA1, MAGI1, TESK2, DCLK1, ZNF638, SRSF12, SYDE1, AGAP1, MAST3, RTKN, PPM1H, CDC25B, CDK16, CBY1, RAB3IP


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 ACTG1_PLEKHA5


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
HgeneACTG1P63261DB11638ArtenimolActin, cytoplasmic 2small moleculeapproved|investigational

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RelatedDiseases for ACTG1_PLEKHA5


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneACTG1C1858172Deafness, Autosomal Dominant 205CTD_human;UNIPROT
HgeneACTG1C0007621Neoplastic Cell Transformation1CTD_human
HgeneACTG1C0009363Congenital ocular coloboma (disorder)1CTD_human
HgeneACTG1C0024667Animal Mammary Neoplasms1CTD_human
HgeneACTG1C0024668Mammary Neoplasms, Experimental1CTD_human
HgeneACTG1C0029456Osteoporosis1CTD_human
HgeneACTG1C0376634Craniofacial Abnormalities1CTD_human
HgeneACTG1C0497552Congenital neurologic anomalies1CTD_human
HgeneACTG1C0948089Acute Coronary Syndrome1CTD_human
HgeneACTG1C3281235BARAITSER-WINTER SYNDROME 21UNIPROT