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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: 8804

FusionGeneSummary for CTNNA1_COTL1

check button Fusion gene summary
Fusion gene informationFusion gene name: CTNNA1_COTL1
Fusion gene ID: 8804
HgeneTgene
Gene symbol

CTNNA1

COTL1

Gene ID

1495

23406

Gene namecatenin alpha 1coactosin like F-actin binding protein 1
SynonymsCAP102|MDPT2CLP
Cytomap

5q31.2

16q24.1

Type of geneprotein-codingprotein-coding
Descriptioncatenin alpha-1alpha-E-catenincatenin (cadherin-associated protein), alpha 1, 102kDarenal carcinoma antigen NY-REN-13coactosin-like proteincoactosin-like 1
Modification date2018052220180519
UniProtAcc

P35221

Q14019

Ensembl transtripts involved in fusion geneENST00000355078, ENST00000302763, 
ENST00000518825, ENST00000520400, 
ENST00000540387, 
ENST00000262428, 
ENST00000567278, ENST00000564057, 
Fusion gene scores* DoF score13 X 10 X 9=11704 X 3 X 3=36
# samples 154
** MAII scorelog2(15/1170*10)=-2.96347412397489
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(4/36*10)=0.15200309344505
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: CTNNA1 [Title/Abstract] AND COTL1 [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


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
TCGARVPRADTCGA-V1-A9ZR-01ACTNNA1chr5

138119061

+COTL1chr16

84600561

-
* 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-3CDSENST00000355078ENST00000262428CTNNA1chr5

138119061

+COTL1chr16

84600561

-
intron-5UTRENST00000355078ENST00000567278CTNNA1chr5

138119061

+COTL1chr16

84600561

-
intron-5UTRENST00000355078ENST00000564057CTNNA1chr5

138119061

+COTL1chr16

84600561

-
In-frameENST00000302763ENST00000262428CTNNA1chr5

138119061

+COTL1chr16

84600561

-
5CDS-5UTRENST00000302763ENST00000567278CTNNA1chr5

138119061

+COTL1chr16

84600561

-
5CDS-5UTRENST00000302763ENST00000564057CTNNA1chr5

138119061

+COTL1chr16

84600561

-
In-frameENST00000518825ENST00000262428CTNNA1chr5

138119061

+COTL1chr16

84600561

-
5CDS-5UTRENST00000518825ENST00000567278CTNNA1chr5

138119061

+COTL1chr16

84600561

-
5CDS-5UTRENST00000518825ENST00000564057CTNNA1chr5

138119061

+COTL1chr16

84600561

-
intron-3CDSENST00000520400ENST00000262428CTNNA1chr5

138119061

+COTL1chr16

84600561

-
intron-5UTRENST00000520400ENST00000567278CTNNA1chr5

138119061

+COTL1chr16

84600561

-
intron-5UTRENST00000520400ENST00000564057CTNNA1chr5

138119061

+COTL1chr16

84600561

-
intron-3CDSENST00000540387ENST00000262428CTNNA1chr5

138119061

+COTL1chr16

84600561

-
intron-5UTRENST00000540387ENST00000567278CTNNA1chr5

138119061

+COTL1chr16

84600561

-
intron-5UTRENST00000540387ENST00000564057CTNNA1chr5

138119061

+COTL1chr16

84600561

-

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FusionProtFeatures for CTNNA1_COTL1


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

P35221

COTL1

Q14019

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}. Binds to F-actin in a calcium-independent manner. Has nodirect effect on actin depolymerization. Acts as a chaperone forALOX5 (5LO), influencing both its stability and activity inleukotrienes synthesis. {ECO:0000269|PubMed:11583571,ECO:0000269|PubMed:19807693}.

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_COTL1


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.
>In-frame_CTNNA1_ENST00000302763_chr5_138119061_+_COTL1_ENST00000262428_chr16_84600561_-_137aa
MTAVHAGNINFKWDPKSLEIRTLAVERLLEPLVTQVTTLVNTNSKGPSNKKRGRSKKAHVLAASVEQATENFLEKGDKIAKESQFLKEEL

>In-frame_CTNNA1_ENST00000518825_chr5_138119061_+_COTL1_ENST00000262428_chr16_84600561_-_137aa
MTAVHAGNINFKWDPKSLEIRTLAVERLLEPLVTQVTTLVNTNSKGPSNKKRGRSKKAHVLAASVEQATENFLEKGDKIAKESQFLKEEL


* Fusion transcript sequences (only coding sequence (CDS) region).
>In-frame_CTNNA1_ENST00000302763_chr5_138119061_+_COTL1_ENST00000262428_chr16_84600561_-_412nt
ATGACTGCTGTCCATGCAGGCAACATAAACTTCAAGTGGGATCCTAAAAGTCTAGAGATCAGGACTCTGGCAGTTGAGAGACTGTTGGAG
CCTCTTGTTACACAGGTTACAACCCTTGTAAACACCAATAGTAAAGGGCCCTCTAATAAGAAGAGAGGTCGTTCTAAGAAGGCCCATGTT
TTGGCTGCATCTGTTGAACAAGCAACTGAGAATTTCTTGGAGAAGGGGGATAAAATTGCGAAGGAGAGCCAGTTTCTCAAGGAGGAGCTT
GTGGCTGCTGTAGAAGATGTTCGAAAACAAGAATTTCGCTAAGGAGTTTGTGATCAGTGATCGGAAGGAGCTGGAGGAAGATTTCATCAA

>In-frame_CTNNA1_ENST00000518825_chr5_138119061_+_COTL1_ENST00000262428_chr16_84600561_-_412nt
ATGACTGCTGTCCATGCAGGCAACATAAACTTCAAGTGGGATCCTAAAAGTCTAGAGATCAGGACTCTGGCAGTTGAGAGACTGTTGGAG
CCTCTTGTTACACAGGTTACAACCCTTGTAAACACCAATAGTAAAGGGCCCTCTAATAAGAAGAGAGGTCGTTCTAAGAAGGCCCATGTT
TTGGCTGCATCTGTTGAACAAGCAACTGAGAATTTCTTGGAGAAGGGGGATAAAATTGCGAAGGAGAGCCAGTTTCTCAAGGAGGAGCTT
GTGGCTGCTGTAGAAGATGTTCGAAAACAAGAATTTCGCTAAGGAGTTTGTGATCAGTGATCGGAAGGAGCTGGAGGAAGATTTCATCAA


* Fusion transcript sequences (Full-length transcript).
>In-frame_CTNNA1_ENST00000302763_chr5_138119061_+_COTL1_ENST00000262428_chr16_84600561_-_1753nt
TCCTCCTCCTAGCCGGACTGGAGGGAGACAAAGCAGCGCCCGTCTGCTTCGGGCCTCTGGAATTTAGCGCTCGCCCAGCTAGCCGCAGAA
ATGACTGCTGTCCATGCAGGCAACATAAACTTCAAGTGGGATCCTAAAAGTCTAGAGATCAGGACTCTGGCAGTTGAGAGACTGTTGGAG
CCTCTTGTTACACAGGTTACAACCCTTGTAAACACCAATAGTAAAGGGCCCTCTAATAAGAAGAGAGGTCGTTCTAAGAAGGCCCATGTT
TTGGCTGCATCTGTTGAACAAGCAACTGAGAATTTCTTGGAGAAGGGGGATAAAATTGCGAAGGAGAGCCAGTTTCTCAAGGAGGAGCTT
GTGGCTGCTGTAGAAGATGTTCGAAAACAAGAATTTCGCTAAGGAGTTTGTGATCAGTGATCGGAAGGAGCTGGAGGAAGATTTCATCAA
GAGCGAGCTGAAGAAGGCGGGGGGAGCCAATTACGACGCCCAGACGGAGTAACCCCAGCCCCCGCCACACCACCCCTTGCCAAAGTCATC
TGCCTGCTCCCCGGGGGAGAGGACCGCCGGCCTCAGCTACTAGCCCACCAGCCCACCAGGGAGAAAAGAAGCCATGAGAGGCAGCGCCCG
CCACCCTGTGTCCACAGCCCCCACCTTCCCGCTTCCCTTAGAACCCTGCCGTGTCCTATCTCATGACGCTCATGGAACCTCTTTCTTTGA
TCTTCTTTTTCTTTTCTCCCCCTCTTTTTTGTTCTAAAGAAAAGTCATTTTGATGCAAGGTCCTGCCTGCCATCAGATCCGAGGTGCCTC
CTGCAGTGACCCCTTTTCCTGGCATTTCTCTTCCACGCGACGAGGTCTGCCTAGTGAGATCTGCATGACCTCACGTTGCTTTCCAGAGCC
CGGGCCTATTTTGCCATCTCAGTTTTCCTGGACCCTGCTTCCTGTGTACCACTGAGGGGCAGCTGGGCCAGGAGCTGTGCCCGGTGCCTG
CAGCCTTCATAAGCACACACGTCCATTCCCTACTAAGGCCCAGACCTCCTGGTATCTGCCCCGGGCTCCCTCATCCCACCTCCATCCGGA
GTTGCCTAAGATGCATGTCCAGCATAGGCAGGATTGCTCGGTGGTGAGAAGGTTAGGTCCGGCTCAGACTGAATAAGAAGAGATAAAATT
TGCCTTAAAACTTACCTGGCAGTGGCTTTGCTGCACGGTCTGAAACCACCTGTTCCCACCCTCTTGACCGAAATTTCCTTGTGACACAGA
GAAGGGCAAAGGTCTGAGCCCAGAGTTGACGGAGGGAGTATTTCAGGGTTCACTTCAGGGGCTCCCAAAGCGACAAGATCGTTAGGGAGA
GAGGCCCAGGGTGGGGACTGGGAATTTAAGGAGAGCTGGGAACGGATCCCTTAGGTTCAGGAAGCTTCTGTGTAAGCTGCGAGGATGGCT
TGGGCCGAAGGGTTGCTCTGCCCGCCGCGCTAGCTGTGAGCTGAGCAAAGCCCTGGGCTCACAGCACCCCAAAAGCCTGTGGCTTCAGTC
CTGCGTCTGCACCACACATTCAAAAGGATCGTTTTGTTTTGTTTTTAAAGAAAGGTGAGATTGGCTTGGTTCTTCATGAGCACATTTGAT
ATAGCTCTTTTTCTGTTTTTCCTTGCTCATTTCGTTTTGGGGAAGAAATCTGTACTGTATTGGGATTGTAAAGAACATCTCTGCACTCAG

>In-frame_CTNNA1_ENST00000518825_chr5_138119061_+_COTL1_ENST00000262428_chr16_84600561_-_1665nt
AAATGACTGCTGTCCATGCAGGCAACATAAACTTCAAGTGGGATCCTAAAAGTCTAGAGATCAGGACTCTGGCAGTTGAGAGACTGTTGG
AGCCTCTTGTTACACAGGTTACAACCCTTGTAAACACCAATAGTAAAGGGCCCTCTAATAAGAAGAGAGGTCGTTCTAAGAAGGCCCATG
TTTTGGCTGCATCTGTTGAACAAGCAACTGAGAATTTCTTGGAGAAGGGGGATAAAATTGCGAAGGAGAGCCAGTTTCTCAAGGAGGAGC
TTGTGGCTGCTGTAGAAGATGTTCGAAAACAAGAATTTCGCTAAGGAGTTTGTGATCAGTGATCGGAAGGAGCTGGAGGAAGATTTCATC
AAGAGCGAGCTGAAGAAGGCGGGGGGAGCCAATTACGACGCCCAGACGGAGTAACCCCAGCCCCCGCCACACCACCCCTTGCCAAAGTCA
TCTGCCTGCTCCCCGGGGGAGAGGACCGCCGGCCTCAGCTACTAGCCCACCAGCCCACCAGGGAGAAAAGAAGCCATGAGAGGCAGCGCC
CGCCACCCTGTGTCCACAGCCCCCACCTTCCCGCTTCCCTTAGAACCCTGCCGTGTCCTATCTCATGACGCTCATGGAACCTCTTTCTTT
GATCTTCTTTTTCTTTTCTCCCCCTCTTTTTTGTTCTAAAGAAAAGTCATTTTGATGCAAGGTCCTGCCTGCCATCAGATCCGAGGTGCC
TCCTGCAGTGACCCCTTTTCCTGGCATTTCTCTTCCACGCGACGAGGTCTGCCTAGTGAGATCTGCATGACCTCACGTTGCTTTCCAGAG
CCCGGGCCTATTTTGCCATCTCAGTTTTCCTGGACCCTGCTTCCTGTGTACCACTGAGGGGCAGCTGGGCCAGGAGCTGTGCCCGGTGCC
TGCAGCCTTCATAAGCACACACGTCCATTCCCTACTAAGGCCCAGACCTCCTGGTATCTGCCCCGGGCTCCCTCATCCCACCTCCATCCG
GAGTTGCCTAAGATGCATGTCCAGCATAGGCAGGATTGCTCGGTGGTGAGAAGGTTAGGTCCGGCTCAGACTGAATAAGAAGAGATAAAA
TTTGCCTTAAAACTTACCTGGCAGTGGCTTTGCTGCACGGTCTGAAACCACCTGTTCCCACCCTCTTGACCGAAATTTCCTTGTGACACA
GAGAAGGGCAAAGGTCTGAGCCCAGAGTTGACGGAGGGAGTATTTCAGGGTTCACTTCAGGGGCTCCCAAAGCGACAAGATCGTTAGGGA
GAGAGGCCCAGGGTGGGGACTGGGAATTTAAGGAGAGCTGGGAACGGATCCCTTAGGTTCAGGAAGCTTCTGTGTAAGCTGCGAGGATGG
CTTGGGCCGAAGGGTTGCTCTGCCCGCCGCGCTAGCTGTGAGCTGAGCAAAGCCCTGGGCTCACAGCACCCCAAAAGCCTGTGGCTTCAG
TCCTGCGTCTGCACCACACATTCAAAAGGATCGTTTTGTTTTGTTTTTAAAGAAAGGTGAGATTGGCTTGGTTCTTCATGAGCACATTTG
ATATAGCTCTTTTTCTGTTTTTCCTTGCTCATTTCGTTTTGGGGAAGAAATCTGTACTGTATTGGGATTGTAAAGAACATCTCTGCACTC


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FusionGenePPI for CTNNA1_COTL1


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, TESCOTL1ALOX5, ACTA1, ELAVL1, TERF2IP, CD2BP2, ACTG1, ACTB, PDE6H, ARHGDIA, CFL1, FSCN1, HEBP1, TMTC3, CRIP1, DUT, HN1, MDH2, PCBP1, SH3BGRL, TAGLN2, TIAL1, TKT, UBE2M, MCM2


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_COTL1


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_COTL1


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
TgeneCOTL1C0023893Liver Cirrhosis, Experimental1CTD_human
TgeneCOTL1C1458155Mammary Neoplasms1CTD_human