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Fusion Protein:GNA12-CARD11 |
Fusion Protein Summary |
 Fusion gene summary |
| Fusion partner gene information | Fusion gene name: GNA12-CARD11 | FusionPDB ID: 33526 | FusionGDB2.0 ID: 33526 | Hgene | Tgene | Gene symbol | GNA12 | CARD11 | Gene ID | 2768 | 84433 |
| Gene name | G protein subunit alpha 12 | caspase recruitment domain family member 11 | |
| Synonyms | NNX3|RMP|gep | BENTA|BIMP3|CARMA1|IMD11|IMD11A|PPBL | |
| Cytomap | 7p22.3-p22.2 | 7p22.2 | |
| Type of gene | protein-coding | protein-coding | |
| Description | guanine nucleotide-binding protein subunit alpha-12WUGSC:H_GS165O14.2g alpha-12guanine nucleotide binding protein (G protein) alpha 12 | caspase recruitment domain-containing protein 11CARD-containing MAGUK protein 1bcl10-interacting maguk protein 3carma 1 | |
| Modification date | 20200313 | 20200313 | |
| UniProtAcc | Q03113 | Q9BXL7 | |
| Ensembl transtripts involved in fusion gene | ENST ids | ENST00000275364, ENST00000407904, ENST00000544127, ENST00000396960, ENST00000407653, ENST00000491117, | ENST00000396946, |
| Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0) | * DoF score | 11 X 4 X 7=308 | 4 X 4 X 4=64 |
| # samples | 14 | 4 | |
| ** MAII score | log2(14/308*10)=-1.13750352374993 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(4/64*10)=-0.678071905112638 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context (manual curation of fusion genes in FusionPDB) | PubMed: GNA12 [Title/Abstract] AND CARD11 [Title/Abstract] AND fusion [Title/Abstract] | ||
| Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0) | GNA12(2834562)-CARD11(2974263), # samples:2 | ||
| Anticipated loss of major functional domain due to fusion event. | GNA12-CARD11 seems lost the major protein functional domain in Hgene partner, which is a CGC by not retaining the major functional domain in the partially deleted in-frame ORF. GNA12-CARD11 seems lost the major protein functional domain in Hgene partner, which is a CGC by not retaining the major functional domain in the partially deleted in-frame ORF. GNA12-CARD11 seems lost the major protein functional domain in Hgene partner, which is a essential gene by not retaining the major functional domain in the partially deleted in-frame ORF. GNA12-CARD11 seems lost the major protein functional domain in Hgene partner, which is a essential gene by not retaining the major functional domain in the partially deleted in-frame ORF. | ||
| * 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 |
| Tgene | CARD11 | GO:0031295 | T cell costimulation | 17287217 |
| Fusion gene breakpoints across GNA12 (5'-gene) * Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
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| Fusion gene breakpoints across CARD11 (3'-gene) * Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
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Fusion Gene Sample Information |
| Fusion gene information from FusionGDB2.0. |
| Fusion gene information from two resources (ChiTars 5.0 and ChimerDB 4.0) * 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. |
| Source | Disease | Sample | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
| ChimerDB4 | BLCA | TCGA-BT-A20R-01A | GNA12 | chr7 | 2834562 | - | CARD11 | chr7 | 2974263 | - |
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Fusion ORF Analysis |
| Fusion information from ORFfinder translation from full-length transcript sequence from FusionPDB. |
| Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | Seq length (transcript) | BP loci (transcript) | Predicted start (transcript) | Predicted stop (transcript) | Seq length (amino acids) |
| ENST00000275364 | GNA12 | chr7 | 2834562 | - | ENST00000396946 | CARD11 | chr7 | 2974263 | - | 3309 | 688 | 163 | 2811 | 882 |
| ENST00000544127 | GNA12 | chr7 | 2834562 | - | ENST00000396946 | CARD11 | chr7 | 2974263 | - | 3001 | 380 | 23 | 2503 | 826 |
| ENST00000407904 | GNA12 | chr7 | 2834562 | - | ENST00000396946 | CARD11 | chr7 | 2974263 | - | 3298 | 677 | 329 | 2800 | 823 |
| DeepORF prediction of the coding potential based on the fusion transcript sequence of in-frame fusion genes. DeepORF is a coding potential classifier based on convolutional neural network by comparing the real Ribo-seq data. If the no-coding score < 0.5 and coding score > 0.5, then the in-frame fusion transcript is predicted as being likely translated. |
| Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | No-coding score | Coding score |
| ENST00000275364 | ENST00000396946 | GNA12 | chr7 | 2834562 | - | CARD11 | chr7 | 2974263 | - | 0.019703215 | 0.98029673 |
| ENST00000544127 | ENST00000396946 | GNA12 | chr7 | 2834562 | - | CARD11 | chr7 | 2974263 | - | 0.022469744 | 0.9775302 |
| ENST00000407904 | ENST00000396946 | GNA12 | chr7 | 2834562 | - | CARD11 | chr7 | 2974263 | - | 0.02303295 | 0.976967 |
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Fusion Amino Acid Sequences |
| For individual full-length fusion transcript sequence from FusionPDB, we ran ORFfinder and chose the longest ORF among the all predicted ones. |
| >FusionGDB ID_FusionGDB isoform ID_FGname_Hgene_Hchr_Hbp_Henst_Tgene_Tchr_Tbp_Tenst_length(fusion AA) seq_BP >33526_33526_1_GNA12-CARD11_GNA12_chr7_2834562_ENST00000275364_CARD11_chr7_2974263_ENST00000396946_length(amino acids)=882AA_BP=175 MSGVVRTLSRCLLPAEAGGARERRAGSGARDAEREARRRSRDIDALLARERRAVRRLVKILLLGAGESGKSTFLKQMRIIHGREFDQKAL LEFRDTIFDNILKGSRVLVDARDKLGIPWQYSENEKHGMFLMAFENKAGLPVEPATFQLYVPALSALWRDSGIREAFSRRSEFQLSLPRN LPVTIISQDFGDASPRTNGQEADDSSTSEESPEDSKYFLPYHPPQRRMNLKGIQLQRAKSPISLKRTSDFQAKGHEEEGTDASPSSCGSL PITNSFTKMQPPRSRSSIMSITAEPPGNDSIVRRYKEDAPHRSTVEEDNDSGGFDALDLDDDSHERYSFGPSSIHSSSSSHQSEGLDAYD LEQVNLMFRKFSLERPFRPSVTSVGHVRGPGPSVQHTTLNGDSLTSQLTLLGGNARGSFVHSVKPGSLAEKAGLREGHQLLLLEGCIRGE RQSVPLDTCTKEEAHWTIQRCSGPVTLHYKVNHEGYRKLVKDMEDGLITSGDSFYIRLNLNISSQLDACTMSLKCDDVVHVRDTMYQDRH EWLCARVDPFTDHDLDMGTIPSYSRAQQLLLVKLQRLMHRGSREEVDGTHHTLRALRNTLQPEEALSTSDPRVSPRLSRASFLFGQLLQF VSRSENKYKRMNSNERVRIISGSPLGSLARSSLDATKLLTEKQEELDPESELGKNLSLIPYSLVRAFYCERRRPVLFTPTVLAKTLVQRL LNSGGAMEFTICKSDIVTRDEFLRRQKTETIIYSREKNPNAFECIAPANIEAVAAKNKHCLLEAGIGCTRDLIKSNIYPIVLFIRVCEKN -------------------------------------------------------------- >33526_33526_2_GNA12-CARD11_GNA12_chr7_2834562_ENST00000407904_CARD11_chr7_2974263_ENST00000396946_length(amino acids)=823AA_BP=116 MKRRMFPRPCLARMPGSRGSGSTPDGNRKCCRFEHLLIAHPGSRGSRVLVDARDKLGIPWQYSENEKHGMFLMAFENKAGLPVEPATFQL YVPALSALWRDSGIREAFSRRSEFQLSLPRNLPVTIISQDFGDASPRTNGQEADDSSTSEESPEDSKYFLPYHPPQRRMNLKGIQLQRAK SPISLKRTSDFQAKGHEEEGTDASPSSCGSLPITNSFTKMQPPRSRSSIMSITAEPPGNDSIVRRYKEDAPHRSTVEEDNDSGGFDALDL DDDSHERYSFGPSSIHSSSSSHQSEGLDAYDLEQVNLMFRKFSLERPFRPSVTSVGHVRGPGPSVQHTTLNGDSLTSQLTLLGGNARGSF VHSVKPGSLAEKAGLREGHQLLLLEGCIRGERQSVPLDTCTKEEAHWTIQRCSGPVTLHYKVNHEGYRKLVKDMEDGLITSGDSFYIRLN LNISSQLDACTMSLKCDDVVHVRDTMYQDRHEWLCARVDPFTDHDLDMGTIPSYSRAQQLLLVKLQRLMHRGSREEVDGTHHTLRALRNT LQPEEALSTSDPRVSPRLSRASFLFGQLLQFVSRSENKYKRMNSNERVRIISGSPLGSLARSSLDATKLLTEKQEELDPESELGKNLSLI PYSLVRAFYCERRRPVLFTPTVLAKTLVQRLLNSGGAMEFTICKSDIVTRDEFLRRQKTETIIYSREKNPNAFECIAPANIEAVAAKNKH CLLEAGIGCTRDLIKSNIYPIVLFIRVCEKNIKRFRKLLPRPETEEEFLRVCRLKEKELEALPCLYATVEPDMWGSVEELLRVVKDKIGE -------------------------------------------------------------- >33526_33526_3_GNA12-CARD11_GNA12_chr7_2834562_ENST00000544127_CARD11_chr7_2974263_ENST00000396946_length(amino acids)=826AA_BP=119 MVKILLLGAGESGKSTFLKQMRIIHGREFDQKALLEFRDTIFDNILKGSRVLVDARDKLGIPWQYSENEKHGMFLMAFENKAGLPVEPAT FQLYVPALSALWRDSGIREAFSRRSEFQLSLPRNLPVTIISQDFGDASPRTNGQEADDSSTSEESPEDSKYFLPYHPPQRRMNLKGIQLQ RAKSPISLKRTSDFQAKGHEEEGTDASPSSCGSLPITNSFTKMQPPRSRSSIMSITAEPPGNDSIVRRYKEDAPHRSTVEEDNDSGGFDA LDLDDDSHERYSFGPSSIHSSSSSHQSEGLDAYDLEQVNLMFRKFSLERPFRPSVTSVGHVRGPGPSVQHTTLNGDSLTSQLTLLGGNAR GSFVHSVKPGSLAEKAGLREGHQLLLLEGCIRGERQSVPLDTCTKEEAHWTIQRCSGPVTLHYKVNHEGYRKLVKDMEDGLITSGDSFYI RLNLNISSQLDACTMSLKCDDVVHVRDTMYQDRHEWLCARVDPFTDHDLDMGTIPSYSRAQQLLLVKLQRLMHRGSREEVDGTHHTLRAL RNTLQPEEALSTSDPRVSPRLSRASFLFGQLLQFVSRSENKYKRMNSNERVRIISGSPLGSLARSSLDATKLLTEKQEELDPESELGKNL SLIPYSLVRAFYCERRRPVLFTPTVLAKTLVQRLLNSGGAMEFTICKSDIVTRDEFLRRQKTETIIYSREKNPNAFECIAPANIEAVAAK NKHCLLEAGIGCTRDLIKSNIYPIVLFIRVCEKNIKRFRKLLPRPETEEEFLRVCRLKEKELEALPCLYATVEPDMWGSVEELLRVVKDK -------------------------------------------------------------- |
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Fusion Protein Functional Features |
| Four levels of functional features of fusion genes Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/chr7:2834562/chr7:2974263) - FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels. - How to search 1. Put your fusion gene symbol. 2. Press the tab key until there will be shown the breakpoint information filled. 4. Go down and press 'Search' tab twice. 4. Go down to have the hyperlink of the search result. 5. Click the hyperlink. 6. See the FGviewer result for your fusion gene. |
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| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| GNA12 | CARD11 |
| FUNCTION: Guanine nucleotide-binding proteins (G proteins) are involved as modulators or transducers in various transmembrane signaling systems (PubMed:22609986, PubMed:15525651, PubMed:15240885, PubMed:17565996, PubMed:12515866, PubMed:16787920, PubMed:16705036, PubMed:23762476, PubMed:27084452). Activates effector molecule RhoA by binding and activating RhoGEFs (ARHGEF12/LARG) (PubMed:15240885, PubMed:12515866, PubMed:16202387). GNA12-dependent Rho signaling subsequently regulates transcription factor AP-1 (activating protein-1) (By similarity). GNA12-dependent Rho signaling also regulates protein phosphatese 2A activation causing dephosphorylation of its target proteins (PubMed:15525651, PubMed:17565996). Promotes tumor cell invasion and metastasis by activating RhoA/ROCK signaling pathway and up-regulating proinflammatory cytokine production (PubMed:23762476, PubMed:16787920, PubMed:16705036, PubMed:27084452). Inhibits CDH1-mediated cell adhesion in process independent from Rho activation (PubMed:11976333, PubMed:16787920). Together with NAPA promotes CDH5 localization to plasma membrane (PubMed:15980433). May play a role in the control of cell migration through the TOR signaling cascade (PubMed:22609986). {ECO:0000250|UniProtKB:P27600, ECO:0000269|PubMed:11976333, ECO:0000269|PubMed:12515866, ECO:0000269|PubMed:15240885, ECO:0000269|PubMed:15525651, ECO:0000269|PubMed:15980433, ECO:0000269|PubMed:16705036, ECO:0000269|PubMed:16787920, ECO:0000269|PubMed:17565996, ECO:0000269|PubMed:22609986, ECO:0000269|PubMed:23762476, ECO:0000269|PubMed:27084452}. | FUNCTION: Involved in the costimulatory signal essential for T-cell receptor (TCR)-mediated T-cell activation. Its binding to DPP4 induces T-cell proliferation and NF-kappa-B activation in a T-cell receptor/CD3-dependent manner. Activates NF-kappa-B via BCL10 and IKK. Stimulates the phosphorylation of BCL10. Also activates the TORC1 signaling pathway. {ECO:0000269|PubMed:11278692, ECO:0000269|PubMed:11356195, ECO:0000269|PubMed:12356734, ECO:0000269|PubMed:28628108}. |
| 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. |
| - 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 | GNA12 | chr7:2834562 | chr7:2974263 | ENST00000275364 | - | 2 | 4 | 67_72 | 175.0 | 382.0 | Nucleotide binding | GTP |
| Hgene | GNA12 | chr7:2834562 | chr7:2974263 | ENST00000275364 | - | 2 | 4 | 59_72 | 175.0 | 382.0 | Region | G1 motif |
| Tgene | CARD11 | chr7:2834562 | chr7:2974263 | ENST00000396946 | 8 | 25 | 667_755 | 447.0 | 1155.0 | Domain | Note=PDZ | |
| Tgene | CARD11 | chr7:2834562 | chr7:2974263 | ENST00000396946 | 8 | 25 | 973_1140 | 447.0 | 1155.0 | Domain | Note=Guanylate kinase-like |
| - 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 |
| Hgene | GNA12 | chr7:2834562 | chr7:2974263 | ENST00000275364 | - | 2 | 4 | 56_381 | 175.0 | 382.0 | Domain | G-alpha |
| Hgene | GNA12 | chr7:2834562 | chr7:2974263 | ENST00000275364 | - | 2 | 4 | 202_205 | 175.0 | 382.0 | Nucleotide binding | GTP |
| Hgene | GNA12 | chr7:2834562 | chr7:2974263 | ENST00000275364 | - | 2 | 4 | 296_299 | 175.0 | 382.0 | Nucleotide binding | GTP |
| Hgene | GNA12 | chr7:2834562 | chr7:2974263 | ENST00000275364 | - | 2 | 4 | 200_208 | 175.0 | 382.0 | Region | G2 motif |
| Hgene | GNA12 | chr7:2834562 | chr7:2974263 | ENST00000275364 | - | 2 | 4 | 223_232 | 175.0 | 382.0 | Region | G3 motif |
| Hgene | GNA12 | chr7:2834562 | chr7:2974263 | ENST00000275364 | - | 2 | 4 | 292_299 | 175.0 | 382.0 | Region | G4 motif |
| Hgene | GNA12 | chr7:2834562 | chr7:2974263 | ENST00000275364 | - | 2 | 4 | 351_356 | 175.0 | 382.0 | Region | G5 motif |
| Tgene | CARD11 | chr7:2834562 | chr7:2974263 | ENST00000396946 | 8 | 25 | 130_449 | 447.0 | 1155.0 | Coiled coil | Ontology_term=ECO:0000255 | |
| Tgene | CARD11 | chr7:2834562 | chr7:2974263 | ENST00000396946 | 8 | 25 | 18_110 | 447.0 | 1155.0 | Domain | CARD |
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Fusion Protein-Protein Interaction |
| 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 from validated records (BIOGRID-3.4.160) |
| Gene | PPI interactors |
| Protein-protein interactors based on sequence similarity (STRING) |
| Gene | STRING network |
| GNA12 | |
| CARD11 |
| - Retained interactions in fusion protein (protein functional feature from UniProt). |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
| - Lost interactions due to fusion (protein functional feature from UniProt). |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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Related Drugs to GNA12-CARD11 |
| Drugs used for this fusion-positive patient. (Manual curation of PubMed, 04-30-2022 + MyCancerGenome) |
| Hgene | Tgene | Drug | Source | PMID |
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Related Diseases to GNA12-CARD11 |
| Diseases that have this fusion gene. (Manual curation of PubMed, 04-30-2022 + MyCancerGenome) |
| Hgene | Tgene | Disease | Source | PMID |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
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