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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: 26080

FusionGeneSummary for PAX6_CTNNA1

check button Fusion gene summary
Fusion gene informationFusion gene name: PAX6_CTNNA1
Fusion gene ID: 26080
HgeneTgene
Gene symbol

PAX6

CTNNA1

Gene ID

5080

1495

Gene namepaired box 6catenin alpha 1
SynonymsAN|AN2|ASGD5|D11S812E|FVH1|MGDA|WAGRCAP102|MDPT2
Cytomap

11p13

5q31.2

Type of geneprotein-codingprotein-coding
Descriptionpaired box protein Pax-6aniridia type II proteinoculorhombinpaired box homeotic gene-6catenin alpha-1alpha-E-catenincatenin (cadherin-associated protein), alpha 1, 102kDarenal carcinoma antigen NY-REN-13
Modification date2018051920180522
UniProtAcc

P26367

P35221

Ensembl transtripts involved in fusion geneENST00000419022, ENST00000379132, 
ENST00000379129, ENST00000379107, 
ENST00000241001, ENST00000379115, 
ENST00000379111, ENST00000379123, 
ENST00000533156, 
ENST00000355078, 
ENST00000302763, ENST00000518825, 
ENST00000520400, ENST00000540387, 
Fusion gene scores* DoF score2 X 3 X 1=611 X 13 X 6=858
# samples 313
** MAII scorelog2(3/6*10)=2.32192809488736log2(13/858*10)=-2.72246602447109
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: PAX6 [Title/Abstract] AND CTNNA1 [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
TgeneCTNNA1

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
ChiTaRS3.1M86017PAX6chr11

31811059

-CTNNA1chr5

138124956

+
* 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-intronENST00000419022ENST00000355078PAX6chr11

31811059

-CTNNA1chr5

138124956

+
intron-intronENST00000419022ENST00000302763PAX6chr11

31811059

-CTNNA1chr5

138124956

+
intron-intronENST00000419022ENST00000518825PAX6chr11

31811059

-CTNNA1chr5

138124956

+
intron-intronENST00000419022ENST00000520400PAX6chr11

31811059

-CTNNA1chr5

138124956

+
intron-intronENST00000419022ENST00000540387PAX6chr11

31811059

-CTNNA1chr5

138124956

+
intron-intronENST00000379132ENST00000355078PAX6chr11

31811059

-CTNNA1chr5

138124956

+
intron-intronENST00000379132ENST00000302763PAX6chr11

31811059

-CTNNA1chr5

138124956

+
intron-intronENST00000379132ENST00000518825PAX6chr11

31811059

-CTNNA1chr5

138124956

+
intron-intronENST00000379132ENST00000520400PAX6chr11

31811059

-CTNNA1chr5

138124956

+
intron-intronENST00000379132ENST00000540387PAX6chr11

31811059

-CTNNA1chr5

138124956

+
intron-intronENST00000379129ENST00000355078PAX6chr11

31811059

-CTNNA1chr5

138124956

+
intron-intronENST00000379129ENST00000302763PAX6chr11

31811059

-CTNNA1chr5

138124956

+
intron-intronENST00000379129ENST00000518825PAX6chr11

31811059

-CTNNA1chr5

138124956

+
intron-intronENST00000379129ENST00000520400PAX6chr11

31811059

-CTNNA1chr5

138124956

+
intron-intronENST00000379129ENST00000540387PAX6chr11

31811059

-CTNNA1chr5

138124956

+
intron-intronENST00000379107ENST00000355078PAX6chr11

31811059

-CTNNA1chr5

138124956

+
intron-intronENST00000379107ENST00000302763PAX6chr11

31811059

-CTNNA1chr5

138124956

+
intron-intronENST00000379107ENST00000518825PAX6chr11

31811059

-CTNNA1chr5

138124956

+
intron-intronENST00000379107ENST00000520400PAX6chr11

31811059

-CTNNA1chr5

138124956

+
intron-intronENST00000379107ENST00000540387PAX6chr11

31811059

-CTNNA1chr5

138124956

+
intron-intronENST00000241001ENST00000355078PAX6chr11

31811059

-CTNNA1chr5

138124956

+
intron-intronENST00000241001ENST00000302763PAX6chr11

31811059

-CTNNA1chr5

138124956

+
intron-intronENST00000241001ENST00000518825PAX6chr11

31811059

-CTNNA1chr5

138124956

+
intron-intronENST00000241001ENST00000520400PAX6chr11

31811059

-CTNNA1chr5

138124956

+
intron-intronENST00000241001ENST00000540387PAX6chr11

31811059

-CTNNA1chr5

138124956

+
intron-intronENST00000379115ENST00000355078PAX6chr11

31811059

-CTNNA1chr5

138124956

+
intron-intronENST00000379115ENST00000302763PAX6chr11

31811059

-CTNNA1chr5

138124956

+
intron-intronENST00000379115ENST00000518825PAX6chr11

31811059

-CTNNA1chr5

138124956

+
intron-intronENST00000379115ENST00000520400PAX6chr11

31811059

-CTNNA1chr5

138124956

+
intron-intronENST00000379115ENST00000540387PAX6chr11

31811059

-CTNNA1chr5

138124956

+
intron-intronENST00000379111ENST00000355078PAX6chr11

31811059

-CTNNA1chr5

138124956

+
intron-intronENST00000379111ENST00000302763PAX6chr11

31811059

-CTNNA1chr5

138124956

+
intron-intronENST00000379111ENST00000518825PAX6chr11

31811059

-CTNNA1chr5

138124956

+
intron-intronENST00000379111ENST00000520400PAX6chr11

31811059

-CTNNA1chr5

138124956

+
intron-intronENST00000379111ENST00000540387PAX6chr11

31811059

-CTNNA1chr5

138124956

+
intron-intronENST00000379123ENST00000355078PAX6chr11

31811059

-CTNNA1chr5

138124956

+
intron-intronENST00000379123ENST00000302763PAX6chr11

31811059

-CTNNA1chr5

138124956

+
intron-intronENST00000379123ENST00000518825PAX6chr11

31811059

-CTNNA1chr5

138124956

+
intron-intronENST00000379123ENST00000520400PAX6chr11

31811059

-CTNNA1chr5

138124956

+
intron-intronENST00000379123ENST00000540387PAX6chr11

31811059

-CTNNA1chr5

138124956

+
intron-intronENST00000533156ENST00000355078PAX6chr11

31811059

-CTNNA1chr5

138124956

+
intron-intronENST00000533156ENST00000302763PAX6chr11

31811059

-CTNNA1chr5

138124956

+
intron-intronENST00000533156ENST00000518825PAX6chr11

31811059

-CTNNA1chr5

138124956

+
intron-intronENST00000533156ENST00000520400PAX6chr11

31811059

-CTNNA1chr5

138124956

+
intron-intronENST00000533156ENST00000540387PAX6chr11

31811059

-CTNNA1chr5

138124956

+

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FusionProtFeatures for PAX6_CTNNA1


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
PAX6

P26367

CTNNA1

P35221

Transcription factor with important functions in thedevelopment of the eye, nose, central nervous system and pancreas.Required for the differentiation of pancreatic islet alpha cells(By similarity). Competes with PAX4 in binding to a common elementin the glucagon, insulin and somatostatin promoters. Regulatesspecification of the ventral neuron subtypes by establishing thecorrect progenitor domains (By similarity). Isoform 5a appears tofunction as a molecular switch that specifies target genes.{ECO:0000250}. 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}.

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 PAX6_CTNNA1


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 PAX6_CTNNA1


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


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 PAX6_CTNNA1


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 PAX6_CTNNA1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgenePAX6C0003076Aniridia16CTD_human;HPO;ORPHANET;UNIPROT
HgenePAX6C0344559Irido-corneo-trabecular dysgenesis (disorder)4CTD_human;HPO;ORPHANET;UNIPROT
HgenePAX6C0376634Craniofacial Abnormalities3CTD_human
HgenePAX6C0040427Tooth Abnormalities2CTD_human
HgenePAX6C0004352Autistic Disorder1CTD_human
HgenePAX6C0009363Congenital ocular coloboma (disorder)1CTD_human;ORPHANET;UNIPROT
HgenePAX6C0011853Diabetes Mellitus, Experimental1CTD_human
HgenePAX6C0011860Diabetes Mellitus, Non-Insulin-Dependent1CTD_human
HgenePAX6C0025202melanoma1CTD_human
HgenePAX6C0027626Neoplasm Invasiveness1CTD_human
HgenePAX6C0029132Disorder of the optic nerve1CTD_human
HgenePAX6C0036341Schizophrenia1PSYGENET
HgenePAX6C0038356Stomach Neoplasms1CTD_human
HgenePAX6C0497552Congenital neurologic anomalies1CTD_human
HgenePAX6C1833797Optic Nerve Hypoplasia, Bilateral1CTD_human;ORPHANET;UNIPROT
HgenePAX6C3714756Intellectual Disability1CTD_human;HPO
HgenePAX6C3714873Axenfeld-Rieger Syndrome, Type 11CTD_human
HgenePAX6C3805604FOVEAL HYPOPLASIA 11ORPHANET;UNIPROT
TgeneCTNNA1C0023467Leukemia, Myelocytic, Acute1CTD_human
TgeneCTNNA1C1837029Macular Dystrophy, Butterfly-Shaped Pigmentary, 21UNIPROT
TgeneCTNNA1C1868569Patterned dystrophy of retinal pigment epithelium1CTD_human
TgeneCTNNA1C3463824MYELODYSPLASTIC SYNDROME1CTD_human