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Fusion gene ID: 8821 |
FusionGeneSummary for CTNNA3_LOH12CR1 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: CTNNA3_LOH12CR1 | Fusion gene ID: 8821 | Hgene | Tgene | Gene symbol | CTNNA3 | LOH12CR1 | Gene ID | 29119 | 118426 |
| Gene name | catenin alpha 3 | BLOC-1 related complex subunit 5 | |
| Synonyms | ARVD13|VR22 | LOH12CR1|LOH1CR12 | |
| Cytomap | 10q21.3 | 12p13.2 | |
| Type of gene | protein-coding | protein-coding | |
| Description | catenin alpha-3alpha-T-cateninalpha-catenin-like proteincatenin (cadherin-associated protein), alpha 3 | BLOC-1-related complex subunit 5loss of heterozygosity 12 chromosomal region 1 proteinloss of heterozygosity, 12, chromosomal region 1myristoylated lysosomal proteinmyrlysin | |
| Modification date | 20180519 | 20180519 | |
| UniProtAcc | Q9UI47 | ||
| Ensembl transtripts involved in fusion gene | ENST00000433211, ENST00000373744, ENST00000545309, ENST00000373735, | ENST00000542728, ENST00000314565, ENST00000298571, | |
| Fusion gene scores | * DoF score | 5 X 4 X 3=60 | 3 X 2 X 3=18 |
| # samples | 5 | 3 | |
| ** MAII score | log2(5/60*10)=-0.263034405833794 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(3/18*10)=0.736965594166206 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | |
| Context | PubMed: CTNNA3 [Title/Abstract] AND LOH12CR1 [Title/Abstract] AND fusion [Title/Abstract] | ||
| Functional or gene categories assigned by FusionGDB annotation | Tumor suppressor gene involved fusion gene, in-frame but not retained their domain. | ||
| * DoF score (Degree of Frequency) = # partners X # break points X # cancer types ** MAII score (Major Active Isofusion Index) = log2(# samples/DoF score*10) |
| Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
| Partner | Gene | GO ID | GO term | PubMed ID |
| 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 type | Source | Cancer type | Sample | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
| TCGA | RV | BRCA | TCGA-A7-A5ZX-01A | CTNNA3 | chr10 | 68381450 | - | LOH12CR1 | chr12 | 12618480 | + |
| * LD: Li Ding group's fusion gene list RV: Roel Verhaak group's fusion gene list ChiTaRs fusion database |
| 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. |
| ORF | Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
| In-frame | ENST00000433211 | ENST00000542728 | CTNNA3 | chr10 | 68381450 | - | LOH12CR1 | chr12 | 12618480 | + |
| Frame-shift | ENST00000433211 | ENST00000314565 | CTNNA3 | chr10 | 68381450 | - | LOH12CR1 | chr12 | 12618480 | + |
| Frame-shift | ENST00000433211 | ENST00000298571 | CTNNA3 | chr10 | 68381450 | - | LOH12CR1 | chr12 | 12618480 | + |
| Frame-shift | ENST00000373744 | ENST00000542728 | CTNNA3 | chr10 | 68381450 | - | LOH12CR1 | chr12 | 12618480 | + |
| Frame-shift | ENST00000373744 | ENST00000314565 | CTNNA3 | chr10 | 68381450 | - | LOH12CR1 | chr12 | 12618480 | + |
| Frame-shift | ENST00000373744 | ENST00000298571 | CTNNA3 | chr10 | 68381450 | - | LOH12CR1 | chr12 | 12618480 | + |
| intron-3CDS | ENST00000545309 | ENST00000542728 | CTNNA3 | chr10 | 68381450 | - | LOH12CR1 | chr12 | 12618480 | + |
| intron-3CDS | ENST00000545309 | ENST00000314565 | CTNNA3 | chr10 | 68381450 | - | LOH12CR1 | chr12 | 12618480 | + |
| intron-3CDS | ENST00000545309 | ENST00000298571 | CTNNA3 | chr10 | 68381450 | - | LOH12CR1 | chr12 | 12618480 | + |
| intron-3CDS | ENST00000373735 | ENST00000542728 | CTNNA3 | chr10 | 68381450 | - | LOH12CR1 | chr12 | 12618480 | + |
| intron-3CDS | ENST00000373735 | ENST00000314565 | CTNNA3 | chr10 | 68381450 | - | LOH12CR1 | chr12 | 12618480 | + |
| intron-3CDS | ENST00000373735 | ENST00000298571 | CTNNA3 | chr10 | 68381450 | - | LOH12CR1 | chr12 | 12618480 | + |
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FusionProtFeatures for CTNNA3_LOH12CR1 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| CTNNA3 | LOH12CR1 |
| May be involved in formation of stretch-resistant cell-cell adhesion complexes. {ECO:0000303|PubMed:11590244}. | Lectin that binds to various sugars: galactose > mannose= fucose > N-acetylglucosamine > N-acetylgalactosamine(PubMed:10224141). Acts as a chemoattractant, probably involved inthe regulation of cell migration (PubMed:28301481).{ECO:0000269|PubMed:10224141, ECO:0000269|PubMed:28301481}. |
| Retention 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 . * 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 |
| Hgene | CTNNA3 | chr10:68381450 | chr12:12618480 | ENST00000373744 | - | 9 | 17 | 325_379 | 458 | 896 | Coiled coil | Ontology_term=ECO:0000255 |
| Hgene | CTNNA3 | chr10:68381450 | chr12:12618480 | ENST00000373744 | - | 9 | 17 | 74_111 | 458 | 896 | Coiled coil | Ontology_term=ECO:0000255 |
| Hgene | CTNNA3 | chr10:68381450 | chr12:12618480 | ENST00000433211 | - | 10 | 18 | 325_379 | 458 | 896 | Coiled coil | Ontology_term=ECO:0000255 |
| Hgene | CTNNA3 | chr10:68381450 | chr12:12618480 | ENST00000433211 | - | 10 | 18 | 74_111 | 458 | 896 | Coiled coil | Ontology_term=ECO:0000255 |
| - 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 CTNNA3_LOH12CR1 |
| 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_CTNNA3_ENST00000433211_chr10_68381450_-_LOH12CR1_ENST00000542728_chr12_12618480_+_535aa MSAETPITLNIDPQDLQVQTFTVEKLLEPLIIQVTTLVNCPQNPSSRKKGRSKRASVLLASVEEATWNLLDKGEKIAQEATVLKDELTAS LEEVRKESEALKVSAERFTDDPCFLPKREAVVQAARALLAAVTRLLILADMIDVMCLLQHVSAFQRTFESLKNVANKSDLQKTYQKLGKE LENLDYLAFKRQQDLKSPNQRDEIAGARASLKENSPLLHSICSACLEHSDVASLKASKDTVCEEIQNALNVISNASQGIQNMTTPPEPQA ATLGSALDELENLIVLNPLTVTEEEIRPSLEKRLEAIISGAALLADSSCTRDLHRERIIAECNAIRQALQDLLSEYMNNAGKKERSNTLN IALDNMCKKTRDLRRQLRKAIIDHVSDSFLDTTVPLLVLIEAAKNGREKEIKEYAAIFHEHTSRLVEVANLACSMSTNEDGIKIVKIAAN |
| * Fusion transcript sequences (only coding sequence (CDS) region). |
| >In-frame_CTNNA3_ENST00000433211_chr10_68381450_-_LOH12CR1_ENST00000542728_chr12_12618480_+_1605nt ATGTCAGCTGAAACACCAATCACATTGAATATCGATCCTCAGGATCTGCAGGTCCAAACATTCACCGTGGAGAAGCTACTGGAGCCTCTC ATAATCCAGGTTACCACACTTGTAAACTGTCCCCAGAACCCTTCCAGCAGGAAAAAAGGACGTTCGAAAAGAGCCAGTGTCCTTCTAGCT TCTGTGGAGGAAGCAACTTGGAATTTATTAGACAAGGGAGAGAAGATTGCCCAGGAAGCTACAGTTTTAAAGGATGAGCTTACGGCTTCA CTTGAGGAAGTTCGCAAAGAAAGTGAAGCTCTGAAAGTATCAGCTGAGAGATTTACAGATGACCCCTGTTTTCTCCCAAAAAGGGAGGCT GTGGTTCAAGCTGCCCGTGCCTTGCTGGCTGCGGTGACGAGACTCCTTATCCTTGCGGACATGATTGATGTCATGTGCCTCTTGCAACAT GTGTCAGCTTTTCAAAGGACATTTGAGTCTCTCAAAAATGTTGCCAACAAATCTGACCTCCAGAAAACCTACCAGAAGCTTGGGAAGGAG CTGGAAAATTTGGATTATTTAGCCTTCAAACGTCAGCAGGACTTAAAATCTCCAAATCAGAGAGATGAAATTGCAGGAGCCCGAGCTTCA CTGAAGGAGAACTCTCCCCTCTTGCATTCAATTTGTTCAGCTTGTTTGGAGCATTCTGATGTTGCTTCCCTCAAAGCAAGCAAGGACACA GTTTGTGAAGAAATTCAGAATGCTCTCAATGTAATTTCAAATGCTTCACAAGGGATCCAGAATATGACAACCCCACCAGAACCTCAGGCA GCAACCCTGGGAAGTGCCCTTGATGAGCTGGAGAATTTAATTGTCCTGAATCCACTCACAGTAACTGAGGAGGAAATACGACCATCACTA GAGAAACGCCTTGAAGCCATTATCAGTGGGGCTGCTCTGCTGGCGGATTCTTCATGTACGAGGGACTTACACCGAGAGCGGATTATCGCA GAATGCAACGCCATTCGCCAGGCTCTTCAGGATCTGCTTTCAGAGTACATGAACAACGCTGGAAAAAAAGAAAGGAGTAATACCCTGAAT ATTGCTTTAGACAACATGTGTAAGAAGACAAGAGACCTTCGCAGACAGCTCCGCAAGGCTATTATAGATCATGTGTCAGACTCTTTCCTG GATACGACAGTCCCTCTTTTGGTTCTCATTGAAGCTGCTAAGAATGGCCGGGAAAAGGAAATAAAAGAATATGCTGCGATATTTCATGAA CACACCAGCAGGCTTGTAGAGGTGGCAAATCTTGCTTGTTCCATGTCAACAAATGAAGATGGAATTAAAATTGTCAAAATTGCAGCCAAT CATTTGGAAACCTTGTGTCCACAGATGGATCTGTCTGTAGAAACTCTGTTCAGCTTCATGCAGGAGCGCCAGAAAAGATACGCCAAGTAT GCCGAGCAGATCCAGAAAGTGAACGAGATGTCCGCCATCCTCCGCCGCATACAGATGGGCATCGACCAGACTGTGCCCCTGCTGGACAGG |
| * Fusion transcript sequences (Full-length transcript). |
| >In-frame_CTNNA3_ENST00000433211_chr10_68381450_-_LOH12CR1_ENST00000542728_chr12_12618480_+_1787nt CAACGCTCAGCGAAATTGACTGCCCCACTGTCATCTGCCTCTCAATTTGGTACTCTGTAACTCTGTGACCACCAAGAAGCCTTTTTCCGT CCCCCACAAAGCTCTTTTTGGAAAATTCCCTACGGGAGCTGAATTTTAAGCCCATTTACTTTATAGGAAGAAACAGAAAGGCAGCATGTC AGCTGAAACACCAATCACATTGAATATCGATCCTCAGGATCTGCAGGTCCAAACATTCACCGTGGAGAAGCTACTGGAGCCTCTCATAAT CCAGGTTACCACACTTGTAAACTGTCCCCAGAACCCTTCCAGCAGGAAAAAAGGACGTTCGAAAAGAGCCAGTGTCCTTCTAGCTTCTGT GGAGGAAGCAACTTGGAATTTATTAGACAAGGGAGAGAAGATTGCCCAGGAAGCTACAGTTTTAAAGGATGAGCTTACGGCTTCACTTGA GGAAGTTCGCAAAGAAAGTGAAGCTCTGAAAGTATCAGCTGAGAGATTTACAGATGACCCCTGTTTTCTCCCAAAAAGGGAGGCTGTGGT TCAAGCTGCCCGTGCCTTGCTGGCTGCGGTGACGAGACTCCTTATCCTTGCGGACATGATTGATGTCATGTGCCTCTTGCAACATGTGTC AGCTTTTCAAAGGACATTTGAGTCTCTCAAAAATGTTGCCAACAAATCTGACCTCCAGAAAACCTACCAGAAGCTTGGGAAGGAGCTGGA AAATTTGGATTATTTAGCCTTCAAACGTCAGCAGGACTTAAAATCTCCAAATCAGAGAGATGAAATTGCAGGAGCCCGAGCTTCACTGAA GGAGAACTCTCCCCTCTTGCATTCAATTTGTTCAGCTTGTTTGGAGCATTCTGATGTTGCTTCCCTCAAAGCAAGCAAGGACACAGTTTG TGAAGAAATTCAGAATGCTCTCAATGTAATTTCAAATGCTTCACAAGGGATCCAGAATATGACAACCCCACCAGAACCTCAGGCAGCAAC CCTGGGAAGTGCCCTTGATGAGCTGGAGAATTTAATTGTCCTGAATCCACTCACAGTAACTGAGGAGGAAATACGACCATCACTAGAGAA ACGCCTTGAAGCCATTATCAGTGGGGCTGCTCTGCTGGCGGATTCTTCATGTACGAGGGACTTACACCGAGAGCGGATTATCGCAGAATG CAACGCCATTCGCCAGGCTCTTCAGGATCTGCTTTCAGAGTACATGAACAACGCTGGAAAAAAAGAAAGGAGTAATACCCTGAATATTGC TTTAGACAACATGTGTAAGAAGACAAGAGACCTTCGCAGACAGCTCCGCAAGGCTATTATAGATCATGTGTCAGACTCTTTCCTGGATAC GACAGTCCCTCTTTTGGTTCTCATTGAAGCTGCTAAGAATGGCCGGGAAAAGGAAATAAAAGAATATGCTGCGATATTTCATGAACACAC CAGCAGGCTTGTAGAGGTGGCAAATCTTGCTTGTTCCATGTCAACAAATGAAGATGGAATTAAAATTGTCAAAATTGCAGCCAATCATTT GGAAACCTTGTGTCCACAGATGGATCTGTCTGTAGAAACTCTGTTCAGCTTCATGCAGGAGCGCCAGAAAAGATACGCCAAGTATGCCGA GCAGATCCAGAAAGTGAACGAGATGTCCGCCATCCTCCGCCGCATACAGATGGGCATCGACCAGACTGTGCCCCTGCTGGACAGGCTCAA |
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FusionGenePPI for CTNNA3_LOH12CR1 |
| Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in . |
| Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160) |
| Hgene | Hgene's interactors | Tgene | Tgene's interactors |
| CTNNA3 | CTNNB1, CTNNA1, JUP, EHMT2, SPRY2, EPS8, CDH3, CDH12, CDH1, APC, CDH24, BLZF1, CDH10, ARVCF, PKP4, CDH4, CTNNBIP1, OSBPL1A, VMA21, RELL1, CDH2, GIMAP8, CTNND1, AMER1, FAM162A, PRKAA2, MYCBP2, ATP5B, TPD52, TRIM25 | LOH12CR1 | PUF60, FBXO25, TEX35, FGL1, C17orf59, BCAS4, TRIML2, IKBIP, STX11 |
| - Retained PPIs in in-frame fusion. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
| - Lost PPIs in in-frame fusion. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
| - Retained PPIs, but lost function due to frame-shift fusion. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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RelatedDrugs for CTNNA3_LOH12CR1 |
| Drugs targeting genes involved in this fusion gene. (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 CTNNA3_LOH12CR1 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | CTNNA3 | C0004096 | Asthma | 1 | CTD_human |
| Hgene | CTNNA3 | C0236969 | Substance-Related Disorders | 1 | CTD_human |
| Hgene | CTNNA3 | C3810138 | ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 13 | 1 | UNIPROT |
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