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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: 5563

FusionGeneSummary for CASC1_PLEKHA5

check button Fusion gene summary
Fusion gene informationFusion gene name: CASC1_PLEKHA5
Fusion gene ID: 5563
HgeneTgene
Gene symbol

CASC1

PLEKHA5

Gene ID

55259

54477

Gene namecancer susceptibility 1pleckstrin homology domain containing A5
SynonymsLAS1|PPP1R54PEPP-2|PEPP2
Cytomap

12p12.1

12p12.3

Type of geneprotein-codingprotein-coding
Descriptionprotein CASC1cancer susceptibility candidate 1cancer susceptibility candidate gene 1 proteinlung adenoma susceptibility 1-like proteinprotein phosphatase 1 regulatory subunit 54pleckstrin 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 date2018051920180519
UniProtAcc

Q6TDU7

Q9HAU0

Ensembl transtripts involved in fusion geneENST00000354189, ENST00000395987, 
ENST00000395990, ENST00000320267, 
ENST00000537577, ENST00000545133, 
ENST00000557684, 		ENST00000309364, 
ENST00000359180, ENST00000317589, 
ENST00000355397, ENST00000429027, 
ENST00000539256, ENST00000299275, 
ENST00000538714, ENST00000543806, 
ENST00000424268, ENST00000540972, 
ENST00000510738, 
Fusion gene scores* DoF score1 X 1 X 1=121 X 8 X 13=2184
# samples 122
** MAII scorelog2(1/1*10)=3.32192809488736log2(22/2184*10)=-3.31139742739519
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: CASC1 [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-86-7954-01ACASC1chr12

25348010

-PLEKHA5chr12

19406874

+
* 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-3CDSENST00000354189ENST00000309364CASC1chr12

25348010

-PLEKHA5chr12

19406874

+
intron-3CDSENST00000354189ENST00000359180CASC1chr12

25348010

-PLEKHA5chr12

19406874

+
intron-3CDSENST00000354189ENST00000317589CASC1chr12

25348010

-PLEKHA5chr12

19406874

+
intron-3CDSENST00000354189ENST00000355397CASC1chr12

25348010

-PLEKHA5chr12

19406874

+
intron-3CDSENST00000354189ENST00000429027CASC1chr12

25348010

-PLEKHA5chr12

19406874

+
intron-5UTRENST00000354189ENST00000539256CASC1chr12

25348010

-PLEKHA5chr12

19406874

+
intron-5UTRENST00000354189ENST00000299275CASC1chr12

25348010

-PLEKHA5chr12

19406874

+
intron-5UTRENST00000354189ENST00000538714CASC1chr12

25348010

-PLEKHA5chr12

19406874

+
intron-5UTRENST00000354189ENST00000543806CASC1chr12

25348010

-PLEKHA5chr12

19406874

+
intron-5UTRENST00000354189ENST00000424268CASC1chr12

25348010

-PLEKHA5chr12

19406874

+
intron-intronENST00000354189ENST00000540972CASC1chr12

25348010

-PLEKHA5chr12

19406874

+
intron-intronENST00000354189ENST00000510738CASC1chr12

25348010

-PLEKHA5chr12

19406874

+
Frame-shiftENST00000395987ENST00000309364CASC1chr12

25348010

-PLEKHA5chr12

19406874

+
Frame-shiftENST00000395987ENST00000359180CASC1chr12

25348010

-PLEKHA5chr12

19406874

+
Frame-shiftENST00000395987ENST00000317589CASC1chr12

25348010

-PLEKHA5chr12

19406874

+
Frame-shiftENST00000395987ENST00000355397CASC1chr12

25348010

-PLEKHA5chr12

19406874

+
Frame-shiftENST00000395987ENST00000429027CASC1chr12

25348010

-PLEKHA5chr12

19406874

+
5CDS-5UTRENST00000395987ENST00000539256CASC1chr12

25348010

-PLEKHA5chr12

19406874

+
5CDS-5UTRENST00000395987ENST00000299275CASC1chr12

25348010

-PLEKHA5chr12

19406874

+
5CDS-5UTRENST00000395987ENST00000538714CASC1chr12

25348010

-PLEKHA5chr12

19406874

+
5CDS-5UTRENST00000395987ENST00000543806CASC1chr12

25348010

-PLEKHA5chr12

19406874

+
5CDS-5UTRENST00000395987ENST00000424268CASC1chr12

25348010

-PLEKHA5chr12

19406874

+
5CDS-intronENST00000395987ENST00000540972CASC1chr12

25348010

-PLEKHA5chr12

19406874

+
5CDS-intronENST00000395987ENST00000510738CASC1chr12

25348010

-PLEKHA5chr12

19406874

+
5UTR-3CDSENST00000395990ENST00000309364CASC1chr12

25348010

-PLEKHA5chr12

19406874

+
5UTR-3CDSENST00000395990ENST00000359180CASC1chr12

25348010

-PLEKHA5chr12

19406874

+
5UTR-3CDSENST00000395990ENST00000317589CASC1chr12

25348010

-PLEKHA5chr12

19406874

+
5UTR-3CDSENST00000395990ENST00000355397CASC1chr12

25348010

-PLEKHA5chr12

19406874

+
5UTR-3CDSENST00000395990ENST00000429027CASC1chr12

25348010

-PLEKHA5chr12

19406874

+
5UTR-5UTRENST00000395990ENST00000539256CASC1chr12

25348010

-PLEKHA5chr12

19406874

+
5UTR-5UTRENST00000395990ENST00000299275CASC1chr12

25348010

-PLEKHA5chr12

19406874

+
5UTR-5UTRENST00000395990ENST00000538714CASC1chr12

25348010

-PLEKHA5chr12

19406874

+
5UTR-5UTRENST00000395990ENST00000543806CASC1chr12

25348010

-PLEKHA5chr12

19406874

+
5UTR-5UTRENST00000395990ENST00000424268CASC1chr12

25348010

-PLEKHA5chr12

19406874

+
5UTR-intronENST00000395990ENST00000540972CASC1chr12

25348010

-PLEKHA5chr12

19406874

+
5UTR-intronENST00000395990ENST00000510738CASC1chr12

25348010

-PLEKHA5chr12

19406874

+
Frame-shiftENST00000320267ENST00000309364CASC1chr12

25348010

-PLEKHA5chr12

19406874

+
Frame-shiftENST00000320267ENST00000359180CASC1chr12

25348010

-PLEKHA5chr12

19406874

+
Frame-shiftENST00000320267ENST00000317589CASC1chr12

25348010

-PLEKHA5chr12

19406874

+
Frame-shiftENST00000320267ENST00000355397CASC1chr12

25348010

-PLEKHA5chr12

19406874

+
Frame-shiftENST00000320267ENST00000429027CASC1chr12

25348010

-PLEKHA5chr12

19406874

+
5CDS-5UTRENST00000320267ENST00000539256CASC1chr12

25348010

-PLEKHA5chr12

19406874

+
5CDS-5UTRENST00000320267ENST00000299275CASC1chr12

25348010

-PLEKHA5chr12

19406874

+
5CDS-5UTRENST00000320267ENST00000538714CASC1chr12

25348010

-PLEKHA5chr12

19406874

+
5CDS-5UTRENST00000320267ENST00000543806CASC1chr12

25348010

-PLEKHA5chr12

19406874

+
5CDS-5UTRENST00000320267ENST00000424268CASC1chr12

25348010

-PLEKHA5chr12

19406874

+
5CDS-intronENST00000320267ENST00000540972CASC1chr12

25348010

-PLEKHA5chr12

19406874

+
5CDS-intronENST00000320267ENST00000510738CASC1chr12

25348010

-PLEKHA5chr12

19406874

+
5UTR-3CDSENST00000537577ENST00000309364CASC1chr12

25348010

-PLEKHA5chr12

19406874

+
5UTR-3CDSENST00000537577ENST00000359180CASC1chr12

25348010

-PLEKHA5chr12

19406874

+
5UTR-3CDSENST00000537577ENST00000317589CASC1chr12

25348010

-PLEKHA5chr12

19406874

+
5UTR-3CDSENST00000537577ENST00000355397CASC1chr12

25348010

-PLEKHA5chr12

19406874

+
5UTR-3CDSENST00000537577ENST00000429027CASC1chr12

25348010

-PLEKHA5chr12

19406874

+
5UTR-5UTRENST00000537577ENST00000539256CASC1chr12

25348010

-PLEKHA5chr12

19406874

+
5UTR-5UTRENST00000537577ENST00000299275CASC1chr12

25348010

-PLEKHA5chr12

19406874

+
5UTR-5UTRENST00000537577ENST00000538714CASC1chr12

25348010

-PLEKHA5chr12

19406874

+
5UTR-5UTRENST00000537577ENST00000543806CASC1chr12

25348010

-PLEKHA5chr12

19406874

+
5UTR-5UTRENST00000537577ENST00000424268CASC1chr12

25348010

-PLEKHA5chr12

19406874

+
5UTR-intronENST00000537577ENST00000540972CASC1chr12

25348010

-PLEKHA5chr12

19406874

+
5UTR-intronENST00000537577ENST00000510738CASC1chr12

25348010

-PLEKHA5chr12

19406874

+
Frame-shiftENST00000545133ENST00000309364CASC1chr12

25348010

-PLEKHA5chr12

19406874

+
Frame-shiftENST00000545133ENST00000359180CASC1chr12

25348010

-PLEKHA5chr12

19406874

+
Frame-shiftENST00000545133ENST00000317589CASC1chr12

25348010

-PLEKHA5chr12

19406874

+
Frame-shiftENST00000545133ENST00000355397CASC1chr12

25348010

-PLEKHA5chr12

19406874

+
Frame-shiftENST00000545133ENST00000429027CASC1chr12

25348010

-PLEKHA5chr12

19406874

+
5CDS-5UTRENST00000545133ENST00000539256CASC1chr12

25348010

-PLEKHA5chr12

19406874

+
5CDS-5UTRENST00000545133ENST00000299275CASC1chr12

25348010

-PLEKHA5chr12

19406874

+
5CDS-5UTRENST00000545133ENST00000538714CASC1chr12

25348010

-PLEKHA5chr12

19406874

+
5CDS-5UTRENST00000545133ENST00000543806CASC1chr12

25348010

-PLEKHA5chr12

19406874

+
5CDS-5UTRENST00000545133ENST00000424268CASC1chr12

25348010

-PLEKHA5chr12

19406874

+
5CDS-intronENST00000545133ENST00000540972CASC1chr12

25348010

-PLEKHA5chr12

19406874

+
5CDS-intronENST00000545133ENST00000510738CASC1chr12

25348010

-PLEKHA5chr12

19406874

+
5UTR-3CDSENST00000557684ENST00000309364CASC1chr12

25348010

-PLEKHA5chr12

19406874

+
5UTR-3CDSENST00000557684ENST00000359180CASC1chr12

25348010

-PLEKHA5chr12

19406874

+
5UTR-3CDSENST00000557684ENST00000317589CASC1chr12

25348010

-PLEKHA5chr12

19406874

+
5UTR-3CDSENST00000557684ENST00000355397CASC1chr12

25348010

-PLEKHA5chr12

19406874

+
5UTR-3CDSENST00000557684ENST00000429027CASC1chr12

25348010

-PLEKHA5chr12

19406874

+
5UTR-5UTRENST00000557684ENST00000539256CASC1chr12

25348010

-PLEKHA5chr12

19406874

+
5UTR-5UTRENST00000557684ENST00000299275CASC1chr12

25348010

-PLEKHA5chr12

19406874

+
5UTR-5UTRENST00000557684ENST00000538714CASC1chr12

25348010

-PLEKHA5chr12

19406874

+
5UTR-5UTRENST00000557684ENST00000543806CASC1chr12

25348010

-PLEKHA5chr12

19406874

+
5UTR-5UTRENST00000557684ENST00000424268CASC1chr12

25348010

-PLEKHA5chr12

19406874

+
5UTR-intronENST00000557684ENST00000540972CASC1chr12

25348010

-PLEKHA5chr12

19406874

+
5UTR-intronENST00000557684ENST00000510738CASC1chr12

25348010

-PLEKHA5chr12

19406874

+

Top

FusionProtFeatures for CASC1_PLEKHA5


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
CASC1

Q6TDU7

PLEKHA5

Q9HAU0


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 CASC1_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).

Top

FusionGenePPI for CASC1_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
CASC1BARD1, RUNDC1, LRIF1, MYO9APLEKHA5DES, 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


Top

RelatedDrugs for CASC1_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

Top

RelatedDiseases for CASC1_PLEKHA5


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneCASC1C0024121Lung Neoplasms1CTD_human