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Fusion gene ID: 26080 |
FusionGeneSummary for PAX6_CTNNA1 |
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Fusion gene information | Fusion gene name: PAX6_CTNNA1 | Fusion gene ID: 26080 | Hgene | Tgene | Gene symbol | PAX6 | CTNNA1 | Gene ID | 5080 | 1495 |
Gene name | paired box 6 | catenin alpha 1 | |
Synonyms | AN|AN2|ASGD5|D11S812E|FVH1|MGDA|WAGR | CAP102|MDPT2 | |
Cytomap | 11p13 | 5q31.2 | |
Type of gene | protein-coding | protein-coding | |
Description | paired box protein Pax-6aniridia type II proteinoculorhombinpaired box homeotic gene-6 | catenin alpha-1alpha-E-catenincatenin (cadherin-associated protein), alpha 1, 102kDarenal carcinoma antigen NY-REN-13 | |
Modification date | 20180519 | 20180522 | |
UniProtAcc | P26367 | P35221 | |
Ensembl transtripts involved in fusion gene | ENST00000419022, ENST00000379132, ENST00000379129, ENST00000379107, ENST00000241001, ENST00000379115, ENST00000379111, ENST00000379123, ENST00000533156, | ENST00000355078, ENST00000302763, ENST00000518825, ENST00000520400, ENST00000540387, | |
Fusion gene scores | * DoF score | 2 X 3 X 1=6 | 11 X 13 X 6=858 |
# samples | 3 | 13 | |
** MAII score | log2(3/6*10)=2.32192809488736 | log2(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) |
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Partner | Gene | GO ID | GO term | PubMed ID |
Tgene | CTNNA1 | GO:0071681 | cellular response to indole-3-methanol | 10868478 |
![]() (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 type | Source | Cancer type | Sample | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
ChiTaRS3.1 | M86017 | PAX6 | chr11 | 31811059 | - | CTNNA1 | chr5 | 138124956 | + |
* LD: Li Ding group's fusion gene list RV: Roel Verhaak group's fusion gene list ChiTaRs fusion database |
![]() * Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser. |
ORF | Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
intron-intron | ENST00000419022 | ENST00000355078 | PAX6 | chr11 | 31811059 | - | CTNNA1 | chr5 | 138124956 | + |
intron-intron | ENST00000419022 | ENST00000302763 | PAX6 | chr11 | 31811059 | - | CTNNA1 | chr5 | 138124956 | + |
intron-intron | ENST00000419022 | ENST00000518825 | PAX6 | chr11 | 31811059 | - | CTNNA1 | chr5 | 138124956 | + |
intron-intron | ENST00000419022 | ENST00000520400 | PAX6 | chr11 | 31811059 | - | CTNNA1 | chr5 | 138124956 | + |
intron-intron | ENST00000419022 | ENST00000540387 | PAX6 | chr11 | 31811059 | - | CTNNA1 | chr5 | 138124956 | + |
intron-intron | ENST00000379132 | ENST00000355078 | PAX6 | chr11 | 31811059 | - | CTNNA1 | chr5 | 138124956 | + |
intron-intron | ENST00000379132 | ENST00000302763 | PAX6 | chr11 | 31811059 | - | CTNNA1 | chr5 | 138124956 | + |
intron-intron | ENST00000379132 | ENST00000518825 | PAX6 | chr11 | 31811059 | - | CTNNA1 | chr5 | 138124956 | + |
intron-intron | ENST00000379132 | ENST00000520400 | PAX6 | chr11 | 31811059 | - | CTNNA1 | chr5 | 138124956 | + |
intron-intron | ENST00000379132 | ENST00000540387 | PAX6 | chr11 | 31811059 | - | CTNNA1 | chr5 | 138124956 | + |
intron-intron | ENST00000379129 | ENST00000355078 | PAX6 | chr11 | 31811059 | - | CTNNA1 | chr5 | 138124956 | + |
intron-intron | ENST00000379129 | ENST00000302763 | PAX6 | chr11 | 31811059 | - | CTNNA1 | chr5 | 138124956 | + |
intron-intron | ENST00000379129 | ENST00000518825 | PAX6 | chr11 | 31811059 | - | CTNNA1 | chr5 | 138124956 | + |
intron-intron | ENST00000379129 | ENST00000520400 | PAX6 | chr11 | 31811059 | - | CTNNA1 | chr5 | 138124956 | + |
intron-intron | ENST00000379129 | ENST00000540387 | PAX6 | chr11 | 31811059 | - | CTNNA1 | chr5 | 138124956 | + |
intron-intron | ENST00000379107 | ENST00000355078 | PAX6 | chr11 | 31811059 | - | CTNNA1 | chr5 | 138124956 | + |
intron-intron | ENST00000379107 | ENST00000302763 | PAX6 | chr11 | 31811059 | - | CTNNA1 | chr5 | 138124956 | + |
intron-intron | ENST00000379107 | ENST00000518825 | PAX6 | chr11 | 31811059 | - | CTNNA1 | chr5 | 138124956 | + |
intron-intron | ENST00000379107 | ENST00000520400 | PAX6 | chr11 | 31811059 | - | CTNNA1 | chr5 | 138124956 | + |
intron-intron | ENST00000379107 | ENST00000540387 | PAX6 | chr11 | 31811059 | - | CTNNA1 | chr5 | 138124956 | + |
intron-intron | ENST00000241001 | ENST00000355078 | PAX6 | chr11 | 31811059 | - | CTNNA1 | chr5 | 138124956 | + |
intron-intron | ENST00000241001 | ENST00000302763 | PAX6 | chr11 | 31811059 | - | CTNNA1 | chr5 | 138124956 | + |
intron-intron | ENST00000241001 | ENST00000518825 | PAX6 | chr11 | 31811059 | - | CTNNA1 | chr5 | 138124956 | + |
intron-intron | ENST00000241001 | ENST00000520400 | PAX6 | chr11 | 31811059 | - | CTNNA1 | chr5 | 138124956 | + |
intron-intron | ENST00000241001 | ENST00000540387 | PAX6 | chr11 | 31811059 | - | CTNNA1 | chr5 | 138124956 | + |
intron-intron | ENST00000379115 | ENST00000355078 | PAX6 | chr11 | 31811059 | - | CTNNA1 | chr5 | 138124956 | + |
intron-intron | ENST00000379115 | ENST00000302763 | PAX6 | chr11 | 31811059 | - | CTNNA1 | chr5 | 138124956 | + |
intron-intron | ENST00000379115 | ENST00000518825 | PAX6 | chr11 | 31811059 | - | CTNNA1 | chr5 | 138124956 | + |
intron-intron | ENST00000379115 | ENST00000520400 | PAX6 | chr11 | 31811059 | - | CTNNA1 | chr5 | 138124956 | + |
intron-intron | ENST00000379115 | ENST00000540387 | PAX6 | chr11 | 31811059 | - | CTNNA1 | chr5 | 138124956 | + |
intron-intron | ENST00000379111 | ENST00000355078 | PAX6 | chr11 | 31811059 | - | CTNNA1 | chr5 | 138124956 | + |
intron-intron | ENST00000379111 | ENST00000302763 | PAX6 | chr11 | 31811059 | - | CTNNA1 | chr5 | 138124956 | + |
intron-intron | ENST00000379111 | ENST00000518825 | PAX6 | chr11 | 31811059 | - | CTNNA1 | chr5 | 138124956 | + |
intron-intron | ENST00000379111 | ENST00000520400 | PAX6 | chr11 | 31811059 | - | CTNNA1 | chr5 | 138124956 | + |
intron-intron | ENST00000379111 | ENST00000540387 | PAX6 | chr11 | 31811059 | - | CTNNA1 | chr5 | 138124956 | + |
intron-intron | ENST00000379123 | ENST00000355078 | PAX6 | chr11 | 31811059 | - | CTNNA1 | chr5 | 138124956 | + |
intron-intron | ENST00000379123 | ENST00000302763 | PAX6 | chr11 | 31811059 | - | CTNNA1 | chr5 | 138124956 | + |
intron-intron | ENST00000379123 | ENST00000518825 | PAX6 | chr11 | 31811059 | - | CTNNA1 | chr5 | 138124956 | + |
intron-intron | ENST00000379123 | ENST00000520400 | PAX6 | chr11 | 31811059 | - | CTNNA1 | chr5 | 138124956 | + |
intron-intron | ENST00000379123 | ENST00000540387 | PAX6 | chr11 | 31811059 | - | CTNNA1 | chr5 | 138124956 | + |
intron-intron | ENST00000533156 | ENST00000355078 | PAX6 | chr11 | 31811059 | - | CTNNA1 | chr5 | 138124956 | + |
intron-intron | ENST00000533156 | ENST00000302763 | PAX6 | chr11 | 31811059 | - | CTNNA1 | chr5 | 138124956 | + |
intron-intron | ENST00000533156 | ENST00000518825 | PAX6 | chr11 | 31811059 | - | CTNNA1 | chr5 | 138124956 | + |
intron-intron | ENST00000533156 | ENST00000520400 | PAX6 | chr11 | 31811059 | - | CTNNA1 | chr5 | 138124956 | + |
intron-intron | ENST00000533156 | ENST00000540387 | PAX6 | chr11 | 31811059 | - | CTNNA1 | chr5 | 138124956 | + |
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FusionProtFeatures for PAX6_CTNNA1 |
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Hgene | Tgene |
PAX6 | CTNNA1 |
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}. |
![]() * 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. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
- In-frame and not-retained protein feature among the 13 regional features. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
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FusionGeneSequence for PAX6_CTNNA1 |
![]() (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 |
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Hgene | Hgene's interactors | Tgene | Tgene's interactors |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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RelatedDrugs for PAX6_CTNNA1 |
![]() (DrugBank Version 5.1.0 2018-04-02) |
Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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RelatedDiseases for PAX6_CTNNA1 |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Hgene | PAX6 | C0003076 | Aniridia | 16 | CTD_human;HPO;ORPHANET;UNIPROT |
Hgene | PAX6 | C0344559 | Irido-corneo-trabecular dysgenesis (disorder) | 4 | CTD_human;HPO;ORPHANET;UNIPROT |
Hgene | PAX6 | C0376634 | Craniofacial Abnormalities | 3 | CTD_human |
Hgene | PAX6 | C0040427 | Tooth Abnormalities | 2 | CTD_human |
Hgene | PAX6 | C0004352 | Autistic Disorder | 1 | CTD_human |
Hgene | PAX6 | C0009363 | Congenital ocular coloboma (disorder) | 1 | CTD_human;ORPHANET;UNIPROT |
Hgene | PAX6 | C0011853 | Diabetes Mellitus, Experimental | 1 | CTD_human |
Hgene | PAX6 | C0011860 | Diabetes Mellitus, Non-Insulin-Dependent | 1 | CTD_human |
Hgene | PAX6 | C0025202 | melanoma | 1 | CTD_human |
Hgene | PAX6 | C0027626 | Neoplasm Invasiveness | 1 | CTD_human |
Hgene | PAX6 | C0029132 | Disorder of the optic nerve | 1 | CTD_human |
Hgene | PAX6 | C0036341 | Schizophrenia | 1 | PSYGENET |
Hgene | PAX6 | C0038356 | Stomach Neoplasms | 1 | CTD_human |
Hgene | PAX6 | C0497552 | Congenital neurologic anomalies | 1 | CTD_human |
Hgene | PAX6 | C1833797 | Optic Nerve Hypoplasia, Bilateral | 1 | CTD_human;ORPHANET;UNIPROT |
Hgene | PAX6 | C3714756 | Intellectual Disability | 1 | CTD_human;HPO |
Hgene | PAX6 | C3714873 | Axenfeld-Rieger Syndrome, Type 1 | 1 | CTD_human |
Hgene | PAX6 | C3805604 | FOVEAL HYPOPLASIA 1 | 1 | ORPHANET;UNIPROT |
Tgene | CTNNA1 | C0023467 | Leukemia, Myelocytic, Acute | 1 | CTD_human |
Tgene | CTNNA1 | C1837029 | Macular Dystrophy, Butterfly-Shaped Pigmentary, 2 | 1 | UNIPROT |
Tgene | CTNNA1 | C1868569 | Patterned dystrophy of retinal pigment epithelium | 1 | CTD_human |
Tgene | CTNNA1 | C3463824 | MYELODYSPLASTIC SYNDROME | 1 | CTD_human |