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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: 8806

FusionGeneSummary for CTNNA1_EGR1

check button Fusion gene summary
Fusion gene informationFusion gene name: CTNNA1_EGR1
Fusion gene ID: 8806
HgeneTgene
Gene symbol

CTNNA1

EGR1

Gene ID

1495

1958

Gene namecatenin alpha 1early growth response 1
SynonymsCAP102|MDPT2AT225|G0S30|KROX-24|NGFI-A|TIS8|ZIF-268|ZNF225
Cytomap

5q31.2

5q31.2

Type of geneprotein-codingprotein-coding
Descriptioncatenin alpha-1alpha-E-catenincatenin (cadherin-associated protein), alpha 1, 102kDarenal carcinoma antigen NY-REN-13early growth response protein 1EGR-1nerve growth factor-induced protein Atranscription factor ETR103transcription factor Zif268zinc finger protein 225zinc finger protein Krox-24
Modification date2018052220180523
UniProtAcc

P35221

P18146

Ensembl transtripts involved in fusion geneENST00000355078, ENST00000302763, 
ENST00000518825, ENST00000520400, 
ENST00000540387, 
ENST00000239938, 
Fusion gene scores* DoF score13 X 10 X 9=11704 X 6 X 2=48
# samples 157
** MAII scorelog2(15/1170*10)=-2.96347412397489
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(7/48*10)=0.54432051622381
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: CTNNA1 [Title/Abstract] AND EGR1 [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
HgeneCTNNA1

GO:0071681

cellular response to indole-3-methanol

10868478

TgeneEGR1

GO:0006366

transcription by RNA polymerase II

19057511

TgeneEGR1

GO:0033233

regulation of protein sumoylation

19057511

TgeneEGR1

GO:0045893

positive regulation of transcription, DNA-templated

12560508

TgeneEGR1

GO:0045944

positive regulation of transcription by RNA polymerase II

19057511

TgeneEGR1

GO:0098759

cellular response to interleukin-8

20363028


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
TCGARVESCATCGA-L5-A4OQ-01ACTNNA1chr5

138163407

+EGR1chr5

137802446

+
* 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-shitENST00000355078ENST00000239938CTNNA1chr5

138163407

+EGR1chr5

137802446

+
Frame-shitENST00000302763ENST00000239938CTNNA1chr5

138163407

+EGR1chr5

137802446

+
Frame-shitENST00000518825ENST00000239938CTNNA1chr5

138163407

+EGR1chr5

137802446

+
intron-3CDSENST00000520400ENST00000239938CTNNA1chr5

138163407

+EGR1chr5

137802446

+
intron-3CDSENST00000540387ENST00000239938CTNNA1chr5

138163407

+EGR1chr5

137802446

+

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FusionProtFeatures for CTNNA1_EGR1


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
CTNNA1

P35221

EGR1

P18146

Associates with the cytoplasmic domain of a variety ofcadherins. The association of catenins to cadherins produces acomplex which is linked to the actin filament network, and whichseems to be of primary importance for cadherins cell-adhesionproperties. Can associate with both E- and N-cadherins. Originallybelieved to be a stable component of E-cadherin/catenin adhesioncomplexes and to mediate the linkage of cadherins to the actincytoskeleton at adherens junctions. In contrast, cortical actinwas found to be much more dynamic than E-cadherin/catenincomplexes and CTNNA1 was shown not to bind to F-actin whenassembled in the complex suggesting a different linkage betweenactin and adherens junctions components. The homodimeric form mayregulate actin filament assembly and inhibit actin branching bycompeting with the Arp2/3 complex for binding to actin filaments.May play a crucial role in cell differentiation.{ECO:0000269|PubMed:25653389}. Transcriptional regulator (PubMed:20121949). Recognizesand binds to the DNA sequence 5'-GCG(T/G)GGGCG-3'(EGR-site) in thepromoter region of target genes (By similarity). Binds double-stranded target DNA, irrespective of the cytosine methylationstatus (PubMed:25258363, PubMed:25999311). Regulates thetranscription of numerous target genes, and thereby plays animportant role in regulating the response to growth factors, DNAdamage, and ischemia. Plays a role in the regulation of cellsurvival, proliferation and cell death. Activates expression ofp53/TP53 and TGFB1, and thereby helps prevent tumor formation.Required for normal progress through mitosis and normalproliferation of hepatocytes after partial hepatectomy. Mediatesresponses to ischemia and hypoxia; regulates the expression ofproteins such as IL1B and CXCL2 that are involved in inflammatoryprocesses and development of tissue damage after ischemia.Regulates biosynthesis of luteinizing hormone (LHB) in thepituitary (By similarity). {ECO:0000250|UniProtKB:P08046,ECO:0000269|PubMed:20121949, ECO:0000269|PubMed:25258363,ECO:0000269|PubMed:25999311}.

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 CTNNA1_EGR1


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 CTNNA1_EGR1


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
CTNNA1APC, CTNNB1, CDH1, CTNNA1, JUP, CDH3, CDH5, CTNND1, CDH2, CA9, PTPN14, MLLT4, VEZT, MYO7A, TJP2, PSEN1, ACTN1, VCL, DLG1, SPTBN1, FAM84B, RNF219, ZGPAT, RYK, CTBP1, ARRB2, SIRT7, ARMC8, COPS5, APP, VCP, CTNNA3, GARS, OSBP, SEC23A, USP11, XRCC6, CTTN, CUL2, EIF4B, HSPH1, PRMT3, XPO7, FBXW11, OBSL1, CCDC8, UBE2I, ARAF, ILK, BTRC, UNK, DMD, NTRK1, HERC2, GSK3A, HSPA5, AXIN1, MAPRE1, EGFR, MCM2, CDC5L, C21orf59, IQSEC1, CSNK2A1, CTDSPL, CDH8, CTNNBIP1, SAPCD1, SLAMF7, NEK4, SLC9A3R2, MTNR1A, MTNR1B, DLD, HSD17B10, PDHA1, TRIM25, UBE2A, BRCA1, TESEGR1EP300, CREBBP, CEBPB, NAB2, PITX1, NFATC1, TP53, PSMA3, RELA, NAB1, ERBB3, SREBF2, PFDN5, TBX2, SNAI1, SP1, PTEN, IL1B, SRA1, MDM2, CDKN2A, WT1, FOSL2, JUNB, JUND, MAGEB2, PSMD2, MED6, POP1, DNAJC8, PHIP, ARID2, DNMT3L, CTNNB1, NFATC2, CIDEC, MIDN, NES, WDFY1


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 CTNNA1_EGR1


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 CTNNA1_EGR1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneCTNNA1C0023467Leukemia, Myelocytic, Acute1CTD_human
HgeneCTNNA1C1837029Macular Dystrophy, Butterfly-Shaped Pigmentary, 21UNIPROT
HgeneCTNNA1C1868569Patterned dystrophy of retinal pigment epithelium1CTD_human
HgeneCTNNA1C3463824MYELODYSPLASTIC SYNDROME1CTD_human
TgeneEGR1C0236736Cocaine-Related Disorders3CTD_human
TgeneEGR1C0008372Intrahepatic Cholestasis2CTD_human
TgeneEGR1C0004364Autoimmune Diseases1CTD_human
TgeneEGR1C0007786Brain Ischemia1CTD_human
TgeneEGR1C0008311Cholangitis1CTD_human
TgeneEGR1C0008370Cholestasis1CTD_human
TgeneEGR1C0020295Hydronephrosis1CTD_human
TgeneEGR1C0021368Inflammation1CTD_human
TgeneEGR1C0022116Ischemia1CTD_human
TgeneEGR1C0025500Mesothelioma1CTD_human
TgeneEGR1C0033578Prostatic Neoplasms1CTD_human
TgeneEGR1C0035126Reperfusion Injury1CTD_human
TgeneEGR1C0036341Schizophrenia1PSYGENET
TgeneEGR1C0242184Hypoxia1CTD_human
TgeneEGR1C0853193Bipolar I disorder1PSYGENET
TgeneEGR1C3495559Juvenile arthritis1CTD_human