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Fusion Protein:LRRK2-CCT2 |
Fusion Protein Summary |
 Fusion gene summary |
| Fusion partner gene information | Fusion gene name: LRRK2-CCT2 | FusionPDB ID: 50111 | FusionGDB2.0 ID: 50111 | Hgene | Tgene | Gene symbol | LRRK2 | CCT2 | Gene ID | 120892 | 10576 |
| Gene name | leucine rich repeat kinase 2 | chaperonin containing TCP1 subunit 2 | |
| Synonyms | AURA17|DARDARIN|PARK8|RIPK7|ROCO2 | 99D8.1|CCT-beta|CCTB|HEL-S-100n|PRO1633|TCP-1-beta | |
| Cytomap | 12q12 | 12q15 | |
| Type of gene | protein-coding | protein-coding | |
| Description | leucine-rich repeat serine/threonine-protein kinase 2augmented in rheumatoid arthritis 17 | T-complex protein 1 subunit betaT-complex protein 1, beta subunitchaperonin containing TCP1, subunit 2 (beta)chaperonin containing t-complex polypeptide 1, beta subunitchaperonin containing t-complex polypeptide 1, subunit 2epididymis secretory sperm | |
| Modification date | 20200329 | 20200313 | |
| UniProtAcc | Q5S007 | P78371 | |
| Ensembl transtripts involved in fusion gene | ENST ids | ENST00000298910, ENST00000343742, ENST00000481256, | ENST00000299300, ENST00000543146, ENST00000544368, |
| Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0) | * DoF score | 6 X 6 X 4=144 | 14 X 13 X 9=1638 |
| # samples | 6 | 16 | |
| ** MAII score | log2(6/144*10)=-1.26303440583379 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(16/1638*10)=-3.35579154675365 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context (manual curation of fusion genes in FusionPDB) | PubMed: LRRK2 [Title/Abstract] AND CCT2 [Title/Abstract] AND fusion [Title/Abstract] | ||
| Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0) | LRRK2(40681341)-CCT2(69985839), # samples:2 | ||
| Anticipated loss of major functional domain due to fusion event. | LRRK2-CCT2 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. LRRK2-CCT2 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. LRRK2-CCT2 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. LRRK2-CCT2 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 |
| Hgene | LRRK2 | GO:0000165 | MAPK cascade | 17200152 |
| Hgene | LRRK2 | GO:0000186 | activation of MAPKK activity | 19302196 |
| Hgene | LRRK2 | GO:0001934 | positive regulation of protein phosphorylation | 22012985 |
| Hgene | LRRK2 | GO:0006468 | protein phosphorylation | 25500533 |
| Hgene | LRRK2 | GO:0010955 | negative regulation of protein processing | 21370995 |
| Hgene | LRRK2 | GO:0018105 | peptidyl-serine phosphorylation | 19576176 |
| Hgene | LRRK2 | GO:0018107 | peptidyl-threonine phosphorylation | 21048939 |
| Hgene | LRRK2 | GO:0031398 | positive regulation of protein ubiquitination | 16352719|20173330 |
| Hgene | LRRK2 | GO:0032092 | positive regulation of protein binding | 21370995 |
| Hgene | LRRK2 | GO:0034260 | negative regulation of GTPase activity | 22423108 |
| Hgene | LRRK2 | GO:0043068 | positive regulation of programmed cell death | 17200152 |
| Hgene | LRRK2 | GO:0046039 | GTP metabolic process | 21048939 |
| Hgene | LRRK2 | GO:0046777 | protein autophosphorylation | 16269541|16321986|17200152|17442267 |
| Hgene | LRRK2 | GO:1902499 | positive regulation of protein autoubiquitination | 16352719 |
| Hgene | LRRK2 | GO:1903125 | negative regulation of thioredoxin peroxidase activity by peptidyl-threonine phosphorylation | 21850687 |
| Hgene | LRRK2 | GO:1903215 | negative regulation of protein targeting to mitochondrion | 21370995 |
| Fusion gene breakpoints across LRRK2 (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 CCT2 (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 | LUAD | TCGA-49-4501-01A | LRRK2 | chr12 | 40681341 | + | CCT2 | chr12 | 69985839 | + |
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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) |
| ENST00000343742 | LRRK2 | chr12 | 40681341 | + | ENST00000299300 | CCT2 | chr12 | 69985839 | + | 4014 | 2810 | 67 | 3768 | 1233 |
| ENST00000343742 | LRRK2 | chr12 | 40681341 | + | ENST00000544368 | CCT2 | chr12 | 69985839 | + | 3827 | 2810 | 67 | 3753 | 1228 |
| ENST00000343742 | LRRK2 | chr12 | 40681341 | + | ENST00000543146 | CCT2 | chr12 | 69985839 | + | 4009 | 2810 | 67 | 3768 | 1233 |
| ENST00000298910 | LRRK2 | chr12 | 40681341 | + | ENST00000299300 | CCT2 | chr12 | 69985839 | + | 3951 | 2747 | 4 | 3705 | 1233 |
| ENST00000298910 | LRRK2 | chr12 | 40681341 | + | ENST00000544368 | CCT2 | chr12 | 69985839 | + | 3764 | 2747 | 4 | 3690 | 1228 |
| ENST00000298910 | LRRK2 | chr12 | 40681341 | + | ENST00000543146 | CCT2 | chr12 | 69985839 | + | 3946 | 2747 | 4 | 3705 | 1233 |
| 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 |
| ENST00000343742 | ENST00000299300 | LRRK2 | chr12 | 40681341 | + | CCT2 | chr12 | 69985839 | + | 0.000645936 | 0.99935406 |
| ENST00000343742 | ENST00000544368 | LRRK2 | chr12 | 40681341 | + | CCT2 | chr12 | 69985839 | + | 0.000548202 | 0.9994518 |
| ENST00000343742 | ENST00000543146 | LRRK2 | chr12 | 40681341 | + | CCT2 | chr12 | 69985839 | + | 0.000648753 | 0.9993512 |
| ENST00000298910 | ENST00000299300 | LRRK2 | chr12 | 40681341 | + | CCT2 | chr12 | 69985839 | + | 0.000621778 | 0.9993782 |
| ENST00000298910 | ENST00000544368 | LRRK2 | chr12 | 40681341 | + | CCT2 | chr12 | 69985839 | + | 0.000522426 | 0.99947757 |
| ENST00000298910 | ENST00000543146 | LRRK2 | chr12 | 40681341 | + | CCT2 | chr12 | 69985839 | + | 0.00062327 | 0.9993767 |
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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 >50111_50111_1_LRRK2-CCT2_LRRK2_chr12_40681341_ENST00000298910_CCT2_chr12_69985839_ENST00000299300_length(amino acids)=1233AA_BP=914 MSSGRSCWEGGGLEAGATMASGSCQGCEEDEETLKKLIVRLNNVQEGKQIETLVQILEDLLVFTYSERASKLFQGKNIHVPLLIVLDSYM RVASVQQVGWSLLCKLIEVCPGTMQSLMGPQDVGNDWEVLGVHQLILKMLTVHNASVNLSVIGLKTLDLLLTSGKITLLILDEESDIFML IFDAMHSFPANDEVQKLGCKALHVLFERVSEEQLTEFVENKDYMILLSALTNFKDEEEIVLHVLHCLHSLAIPCNNVEVLMSGNVRCYNI VVEAMKAFPMSERIQEVSCCLLHRLTLGNFFNILVLNEVHEFVVKAVQQYPENAALQISALSCLALLTETIFLNQDLEEKNENQENDDEG EEDKLFWLEACYKALTWHRKNKHVQEAACWALNNLLMYQNSLHEKIGDEDGHFPAHREVMLSMLMHSSSKEVFQASANALSTLLEQNVNF RKILLSKGIHLNVLELMQKHIHSPEVAESGCKMLNHLFEGSNTSLDIMAAVVPKILTVMKRHETSLPVQLEALRAILHFIVPGMPEESRE DTEFHHKLNMVKKQCFKNDIHKLVLAALNRFIGNPGIQKCGLKVISSIVHFPDALEMLSLEGAMDSVLHTLQMYPDDQEIQCLGLSLIGY LITKKNVFIGTGHLLAKILVSSLYRFKDVAEIQTKGFQTILAILKLSASFSKLLVHHSFDLVIFHQMSSNIMEQKDQQFLNLCCKCFAKV AMDDYLKNVMLERACDQNNSIMVECLLLLGADANQAKEGSSLICQVCEKESSPKLVELLLNSGSREQDVRKALTISIGKGDSQIISLLLR RLALDVANNSICLGGFCIGKVEPSWLGPLFPDKTSNLRKQTNIASTLARMVIRYQMKSAVEEGTASGSDGNFSEDVLSKFDEWTFIPDSS MDSVFAQSDDLDSEGFLLDKKIGVNQPKRIENAKILIANTGMDTDKIKIFGSRVRVDSTAKVAEIEHAEKEKMKEKVERILKHGINCFIN RQLIYNYPEQLFGAAGVMAIEHADFAGVERLALVTGGEIASTFDHPELVKLGSCKLIEEVMIGEDKLIHFSGVALGEACTIVLRGATQQI LDEAERSLHDALCVLAQTVKDSRTVYGGGCSEMLMAHAVTQLANRTPGKEAVAMESYAKALRMLPTIIADNAGYDSADLVAQLRAAHSEG -------------------------------------------------------------- >50111_50111_2_LRRK2-CCT2_LRRK2_chr12_40681341_ENST00000298910_CCT2_chr12_69985839_ENST00000543146_length(amino acids)=1233AA_BP=914 MSSGRSCWEGGGLEAGATMASGSCQGCEEDEETLKKLIVRLNNVQEGKQIETLVQILEDLLVFTYSERASKLFQGKNIHVPLLIVLDSYM RVASVQQVGWSLLCKLIEVCPGTMQSLMGPQDVGNDWEVLGVHQLILKMLTVHNASVNLSVIGLKTLDLLLTSGKITLLILDEESDIFML IFDAMHSFPANDEVQKLGCKALHVLFERVSEEQLTEFVENKDYMILLSALTNFKDEEEIVLHVLHCLHSLAIPCNNVEVLMSGNVRCYNI VVEAMKAFPMSERIQEVSCCLLHRLTLGNFFNILVLNEVHEFVVKAVQQYPENAALQISALSCLALLTETIFLNQDLEEKNENQENDDEG EEDKLFWLEACYKALTWHRKNKHVQEAACWALNNLLMYQNSLHEKIGDEDGHFPAHREVMLSMLMHSSSKEVFQASANALSTLLEQNVNF RKILLSKGIHLNVLELMQKHIHSPEVAESGCKMLNHLFEGSNTSLDIMAAVVPKILTVMKRHETSLPVQLEALRAILHFIVPGMPEESRE DTEFHHKLNMVKKQCFKNDIHKLVLAALNRFIGNPGIQKCGLKVISSIVHFPDALEMLSLEGAMDSVLHTLQMYPDDQEIQCLGLSLIGY LITKKNVFIGTGHLLAKILVSSLYRFKDVAEIQTKGFQTILAILKLSASFSKLLVHHSFDLVIFHQMSSNIMEQKDQQFLNLCCKCFAKV AMDDYLKNVMLERACDQNNSIMVECLLLLGADANQAKEGSSLICQVCEKESSPKLVELLLNSGSREQDVRKALTISIGKGDSQIISLLLR RLALDVANNSICLGGFCIGKVEPSWLGPLFPDKTSNLRKQTNIASTLARMVIRYQMKSAVEEGTASGSDGNFSEDVLSKFDEWTFIPDSS MDSVFAQSDDLDSEGFLLDKKIGVNQPKRIENAKILIANTGMDTDKIKIFGSRVRVDSTAKVAEIEHAEKEKMKEKVERILKHGINCFIN RQLIYNYPEQLFGAAGVMAIEHADFAGVERLALVTGGEIASTFDHPELVKLGSCKLIEEVMIGEDKLIHFSGVALGEACTIVLRGATQQI LDEAERSLHDALCVLAQTVKDSRTVYGGGCSEMLMAHAVTQLANRTPGKEAVAMESYAKALRMLPTIIADNAGYDSADLVAQLRAAHSEG -------------------------------------------------------------- >50111_50111_3_LRRK2-CCT2_LRRK2_chr12_40681341_ENST00000298910_CCT2_chr12_69985839_ENST00000544368_length(amino acids)=1228AA_BP=914 MSSGRSCWEGGGLEAGATMASGSCQGCEEDEETLKKLIVRLNNVQEGKQIETLVQILEDLLVFTYSERASKLFQGKNIHVPLLIVLDSYM RVASVQQVGWSLLCKLIEVCPGTMQSLMGPQDVGNDWEVLGVHQLILKMLTVHNASVNLSVIGLKTLDLLLTSGKITLLILDEESDIFML IFDAMHSFPANDEVQKLGCKALHVLFERVSEEQLTEFVENKDYMILLSALTNFKDEEEIVLHVLHCLHSLAIPCNNVEVLMSGNVRCYNI VVEAMKAFPMSERIQEVSCCLLHRLTLGNFFNILVLNEVHEFVVKAVQQYPENAALQISALSCLALLTETIFLNQDLEEKNENQENDDEG EEDKLFWLEACYKALTWHRKNKHVQEAACWALNNLLMYQNSLHEKIGDEDGHFPAHREVMLSMLMHSSSKEVFQASANALSTLLEQNVNF RKILLSKGIHLNVLELMQKHIHSPEVAESGCKMLNHLFEGSNTSLDIMAAVVPKILTVMKRHETSLPVQLEALRAILHFIVPGMPEESRE DTEFHHKLNMVKKQCFKNDIHKLVLAALNRFIGNPGIQKCGLKVISSIVHFPDALEMLSLEGAMDSVLHTLQMYPDDQEIQCLGLSLIGY LITKKNVFIGTGHLLAKILVSSLYRFKDVAEIQTKGFQTILAILKLSASFSKLLVHHSFDLVIFHQMSSNIMEQKDQQFLNLCCKCFAKV AMDDYLKNVMLERACDQNNSIMVECLLLLGADANQAKEGSSLICQVCEKESSPKLVELLLNSGSREQDVRKALTISIGKGDSQIISLLLR RLALDVANNSICLGGFCIGKVEPSWLGPLFPDKTSNLRKQTNIASTLARMVIRYQMKSAVEEGTASGSDGNFSEDVLSKFDEWTFIPDSS MDSVFAQSDDLDSEGFLLDKKIGVNQPKRIENAKILIANTGMDTDKIKIFGSRVRVDSTAKVAEIEHAEKEKMKEKVERILKHGINCFIN RQLIYNYPEQLFGAAGVMAIEHADFAGVERLALVTGGEIASTFDHPELVKLGSCKLIEEVMIGEDKLIHFSGVALGEACTIVLRGATQQI LDEAERSLHDALCVLAQTVKDSRTVYGGGCSEMLMAHAVTQLANRTPGKEAVAMESYAKALRMLPTIIADNAGYDSADLVAQLRAAHSEG -------------------------------------------------------------- >50111_50111_4_LRRK2-CCT2_LRRK2_chr12_40681341_ENST00000343742_CCT2_chr12_69985839_ENST00000299300_length(amino acids)=1233AA_BP=914 MSSGRSCWEGGGLEAGATMASGSCQGCEEDEETLKKLIVRLNNVQEGKQIETLVQILEDLLVFTYSERASKLFQGKNIHVPLLIVLDSYM RVASVQQVGWSLLCKLIEVCPGTMQSLMGPQDVGNDWEVLGVHQLILKMLTVHNASVNLSVIGLKTLDLLLTSGKITLLILDEESDIFML IFDAMHSFPANDEVQKLGCKALHVLFERVSEEQLTEFVENKDYMILLSALTNFKDEEEIVLHVLHCLHSLAIPCNNVEVLMSGNVRCYNI VVEAMKAFPMSERIQEVSCCLLHRLTLGNFFNILVLNEVHEFVVKAVQQYPENAALQISALSCLALLTETIFLNQDLEEKNENQENDDEG EEDKLFWLEACYKALTWHRKNKHVQEAACWALNNLLMYQNSLHEKIGDEDGHFPAHREVMLSMLMHSSSKEVFQASANALSTLLEQNVNF RKILLSKGIHLNVLELMQKHIHSPEVAESGCKMLNHLFEGSNTSLDIMAAVVPKILTVMKRHETSLPVQLEALRAILHFIVPGMPEESRE DTEFHHKLNMVKKQCFKNDIHKLVLAALNRFIGNPGIQKCGLKVISSIVHFPDALEMLSLEGAMDSVLHTLQMYPDDQEIQCLGLSLIGY LITKKNVFIGTGHLLAKILVSSLYRFKDVAEIQTKGFQTILAILKLSASFSKLLVHHSFDLVIFHQMSSNIMEQKDQQFLNLCCKCFAKV AMDDYLKNVMLERACDQNNSIMVECLLLLGADANQAKEGSSLICQVCEKESSPKLVELLLNSGSREQDVRKALTISIGKGDSQIISLLLR RLALDVANNSICLGGFCIGKVEPSWLGPLFPDKTSNLRKQTNIASTLARMVIRYQMKSAVEEGTASGSDGNFSEDVLSKFDEWTFIPDSS MDSVFAQSDDLDSEGFLLDKKIGVNQPKRIENAKILIANTGMDTDKIKIFGSRVRVDSTAKVAEIEHAEKEKMKEKVERILKHGINCFIN RQLIYNYPEQLFGAAGVMAIEHADFAGVERLALVTGGEIASTFDHPELVKLGSCKLIEEVMIGEDKLIHFSGVALGEACTIVLRGATQQI LDEAERSLHDALCVLAQTVKDSRTVYGGGCSEMLMAHAVTQLANRTPGKEAVAMESYAKALRMLPTIIADNAGYDSADLVAQLRAAHSEG -------------------------------------------------------------- >50111_50111_5_LRRK2-CCT2_LRRK2_chr12_40681341_ENST00000343742_CCT2_chr12_69985839_ENST00000543146_length(amino acids)=1233AA_BP=914 MSSGRSCWEGGGLEAGATMASGSCQGCEEDEETLKKLIVRLNNVQEGKQIETLVQILEDLLVFTYSERASKLFQGKNIHVPLLIVLDSYM RVASVQQVGWSLLCKLIEVCPGTMQSLMGPQDVGNDWEVLGVHQLILKMLTVHNASVNLSVIGLKTLDLLLTSGKITLLILDEESDIFML IFDAMHSFPANDEVQKLGCKALHVLFERVSEEQLTEFVENKDYMILLSALTNFKDEEEIVLHVLHCLHSLAIPCNNVEVLMSGNVRCYNI VVEAMKAFPMSERIQEVSCCLLHRLTLGNFFNILVLNEVHEFVVKAVQQYPENAALQISALSCLALLTETIFLNQDLEEKNENQENDDEG EEDKLFWLEACYKALTWHRKNKHVQEAACWALNNLLMYQNSLHEKIGDEDGHFPAHREVMLSMLMHSSSKEVFQASANALSTLLEQNVNF RKILLSKGIHLNVLELMQKHIHSPEVAESGCKMLNHLFEGSNTSLDIMAAVVPKILTVMKRHETSLPVQLEALRAILHFIVPGMPEESRE DTEFHHKLNMVKKQCFKNDIHKLVLAALNRFIGNPGIQKCGLKVISSIVHFPDALEMLSLEGAMDSVLHTLQMYPDDQEIQCLGLSLIGY LITKKNVFIGTGHLLAKILVSSLYRFKDVAEIQTKGFQTILAILKLSASFSKLLVHHSFDLVIFHQMSSNIMEQKDQQFLNLCCKCFAKV AMDDYLKNVMLERACDQNNSIMVECLLLLGADANQAKEGSSLICQVCEKESSPKLVELLLNSGSREQDVRKALTISIGKGDSQIISLLLR RLALDVANNSICLGGFCIGKVEPSWLGPLFPDKTSNLRKQTNIASTLARMVIRYQMKSAVEEGTASGSDGNFSEDVLSKFDEWTFIPDSS MDSVFAQSDDLDSEGFLLDKKIGVNQPKRIENAKILIANTGMDTDKIKIFGSRVRVDSTAKVAEIEHAEKEKMKEKVERILKHGINCFIN RQLIYNYPEQLFGAAGVMAIEHADFAGVERLALVTGGEIASTFDHPELVKLGSCKLIEEVMIGEDKLIHFSGVALGEACTIVLRGATQQI LDEAERSLHDALCVLAQTVKDSRTVYGGGCSEMLMAHAVTQLANRTPGKEAVAMESYAKALRMLPTIIADNAGYDSADLVAQLRAAHSEG -------------------------------------------------------------- >50111_50111_6_LRRK2-CCT2_LRRK2_chr12_40681341_ENST00000343742_CCT2_chr12_69985839_ENST00000544368_length(amino acids)=1228AA_BP=914 MSSGRSCWEGGGLEAGATMASGSCQGCEEDEETLKKLIVRLNNVQEGKQIETLVQILEDLLVFTYSERASKLFQGKNIHVPLLIVLDSYM RVASVQQVGWSLLCKLIEVCPGTMQSLMGPQDVGNDWEVLGVHQLILKMLTVHNASVNLSVIGLKTLDLLLTSGKITLLILDEESDIFML IFDAMHSFPANDEVQKLGCKALHVLFERVSEEQLTEFVENKDYMILLSALTNFKDEEEIVLHVLHCLHSLAIPCNNVEVLMSGNVRCYNI VVEAMKAFPMSERIQEVSCCLLHRLTLGNFFNILVLNEVHEFVVKAVQQYPENAALQISALSCLALLTETIFLNQDLEEKNENQENDDEG EEDKLFWLEACYKALTWHRKNKHVQEAACWALNNLLMYQNSLHEKIGDEDGHFPAHREVMLSMLMHSSSKEVFQASANALSTLLEQNVNF RKILLSKGIHLNVLELMQKHIHSPEVAESGCKMLNHLFEGSNTSLDIMAAVVPKILTVMKRHETSLPVQLEALRAILHFIVPGMPEESRE DTEFHHKLNMVKKQCFKNDIHKLVLAALNRFIGNPGIQKCGLKVISSIVHFPDALEMLSLEGAMDSVLHTLQMYPDDQEIQCLGLSLIGY LITKKNVFIGTGHLLAKILVSSLYRFKDVAEIQTKGFQTILAILKLSASFSKLLVHHSFDLVIFHQMSSNIMEQKDQQFLNLCCKCFAKV AMDDYLKNVMLERACDQNNSIMVECLLLLGADANQAKEGSSLICQVCEKESSPKLVELLLNSGSREQDVRKALTISIGKGDSQIISLLLR RLALDVANNSICLGGFCIGKVEPSWLGPLFPDKTSNLRKQTNIASTLARMVIRYQMKSAVEEGTASGSDGNFSEDVLSKFDEWTFIPDSS MDSVFAQSDDLDSEGFLLDKKIGVNQPKRIENAKILIANTGMDTDKIKIFGSRVRVDSTAKVAEIEHAEKEKMKEKVERILKHGINCFIN RQLIYNYPEQLFGAAGVMAIEHADFAGVERLALVTGGEIASTFDHPELVKLGSCKLIEEVMIGEDKLIHFSGVALGEACTIVLRGATQQI LDEAERSLHDALCVLAQTVKDSRTVYGGGCSEMLMAHAVTQLANRTPGKEAVAMESYAKALRMLPTIIADNAGYDSADLVAQLRAAHSEG -------------------------------------------------------------- |
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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/chr12:40681341/chr12:69985839) - 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 |
| LRRK2 | CCT2 |
| FUNCTION: Serine/threonine-protein kinase which phosphorylates a broad range of proteins involved in multiple processes such as neuronal plasticity, autophagy, and vesicle trafficking (PubMed:20949042, PubMed:22012985, PubMed:26824392, PubMed:29125462, PubMed:28720718, PubMed:29127255, PubMed:30398148, PubMed:29212815, PubMed:30635421, PubMed:21850687, PubMed:23395371, PubMed:17114044, PubMed:24687852, PubMed:26014385, PubMed:25201882). Is a key regulator of RAB GTPases by regulating the GTP/GDP exchange and interaction partners of RABs through phosphorylation (PubMed:26824392, PubMed:28720718, PubMed:29127255, PubMed:30398148, PubMed:29212815, PubMed:29125462, PubMed:30635421). Phosphorylates RAB3A, RAB3B, RAB3C, RAB3D, RAB5A, RAB5B, RAB5C, RAB8A, RAB8B, RAB10, RAB12, RAB35, and RAB43 (PubMed:26824392, PubMed:28720718, PubMed:29127255, PubMed:30398148, PubMed:29212815, PubMed:29125462, PubMed:30635421, PubMed:23395371). Regulates the RAB3IP-catalyzed GDP/GTP exchange for RAB8A through the phosphorylation of 'Thr-72' on RAB8A (PubMed:26824392). Inhibits the interaction between RAB8A and GDI1 and/or GDI2 by phosphorylating 'Thr-72' on RAB8A (PubMed:26824392). Regulates primary ciliogenesis through phosphorylation of RAB8A and RAB10, which promotes SHH signaling in the brain (PubMed:29125462, PubMed:30398148). Together with RAB29, plays a role in the retrograde trafficking pathway for recycling proteins, such as mannose-6-phosphate receptor (M6PR), between lysosomes and the Golgi apparatus in a retromer-dependent manner (PubMed:23395371). Regulates neuronal process morphology in the intact central nervous system (CNS) (PubMed:17114044). Plays a role in synaptic vesicle trafficking (PubMed:24687852). Plays an important role in recruiting SEC16A to endoplasmic reticulum exit sites (ERES) and in regulating ER to Golgi vesicle-mediated transport and ERES organization (PubMed:25201882). Positively regulates autophagy through a calcium-dependent activation of the CaMKK/AMPK signaling pathway (PubMed:22012985). The process involves activation of nicotinic acid adenine dinucleotide phosphate (NAADP) receptors, increase in lysosomal pH, and calcium release from lysosomes (PubMed:22012985). Phosphorylates PRDX3 (PubMed:21850687). By phosphorylating APP on 'Thr-743', which promotes the production and the nuclear translocation of the APP intracellular domain (AICD), regulates dopaminergic neuron apoptosis (PubMed:28720718). Independent of its kinase activity, inhibits the proteosomal degradation of MAPT, thus promoting MAPT oligomerization and secretion (PubMed:26014385). In addition, has GTPase activity via its Roc domain which regulates LRRK2 kinase activity (PubMed:18230735, PubMed:26824392, PubMed:29125462, PubMed:28720718, PubMed:29212815). {ECO:0000269|PubMed:17114044, ECO:0000269|PubMed:18230735, ECO:0000269|PubMed:20949042, ECO:0000269|PubMed:21850687, ECO:0000269|PubMed:22012985, ECO:0000269|PubMed:23395371, ECO:0000269|PubMed:24687852, ECO:0000269|PubMed:25201882, ECO:0000269|PubMed:26014385, ECO:0000269|PubMed:26824392, ECO:0000269|PubMed:28720718, ECO:0000269|PubMed:29125462, ECO:0000269|PubMed:29127255, ECO:0000269|PubMed:29212815, ECO:0000269|PubMed:30398148, ECO:0000269|PubMed:30635421}. | FUNCTION: Component of the chaperonin-containing T-complex (TRiC), a molecular chaperone complex that assists the folding of proteins upon ATP hydrolysis (PubMed:25467444). The TRiC complex mediates the folding of WRAP53/TCAB1, thereby regulating telomere maintenance (PubMed:25467444). As part of the TRiC complex may play a role in the assembly of BBSome, a complex involved in ciliogenesis regulating transports vesicles to the cilia (PubMed:20080638). The TRiC complex plays a role in the folding of actin and tubulin (Probable). {ECO:0000269|PubMed:20080638, ECO:0000269|PubMed:25467444, ECO:0000305}. |
| 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 | LRRK2 | chr12:40681341 | chr12:69985839 | ENST00000298910 | + | 20 | 51 | 319_348 | 896.3333333333334 | 2528.0 | Coiled coil | Ontology_term=ECO:0000255 |
| Hgene | LRRK2 | chr12:40681341 | chr12:69985839 | ENST00000298910 | + | 20 | 51 | 728_731 | 896.3333333333334 | 2528.0 | Compositional bias | Note=Poly-Leu |
| - 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 | LRRK2 | chr12:40681341 | chr12:69985839 | ENST00000298910 | + | 20 | 51 | 1328_1511 | 896.3333333333334 | 2528.0 | Domain | Roc |
| Hgene | LRRK2 | chr12:40681341 | chr12:69985839 | ENST00000298910 | + | 20 | 51 | 1879_2138 | 896.3333333333334 | 2528.0 | Domain | Protein kinase |
| Hgene | LRRK2 | chr12:40681341 | chr12:69985839 | ENST00000298910 | + | 20 | 51 | 1341_1348 | 896.3333333333334 | 2528.0 | Nucleotide binding | GTP |
| Hgene | LRRK2 | chr12:40681341 | chr12:69985839 | ENST00000298910 | + | 20 | 51 | 1885_1893 | 896.3333333333334 | 2528.0 | Nucleotide binding | ATP |
| Hgene | LRRK2 | chr12:40681341 | chr12:69985839 | ENST00000298910 | + | 20 | 51 | 2098_2121 | 896.3333333333334 | 2528.0 | Nucleotide binding | GTP |
| Hgene | LRRK2 | chr12:40681341 | chr12:69985839 | ENST00000298910 | + | 20 | 51 | 2295_2298 | 896.3333333333334 | 2528.0 | Nucleotide binding | GTP |
| Hgene | LRRK2 | chr12:40681341 | chr12:69985839 | ENST00000298910 | + | 20 | 51 | 1_969 | 896.3333333333334 | 2528.0 | Region | Required for RAB29-mediated activation |
| Hgene | LRRK2 | chr12:40681341 | chr12:69985839 | ENST00000298910 | + | 20 | 51 | 1012_1033 | 896.3333333333334 | 2528.0 | Repeat | Note=LRR 2 |
| Hgene | LRRK2 | chr12:40681341 | chr12:69985839 | ENST00000298910 | + | 20 | 51 | 1036_1057 | 896.3333333333334 | 2528.0 | Repeat | Note=LRR 3 |
| Hgene | LRRK2 | chr12:40681341 | chr12:69985839 | ENST00000298910 | + | 20 | 51 | 1059_1080 | 896.3333333333334 | 2528.0 | Repeat | Note=LRR 4 |
| Hgene | LRRK2 | chr12:40681341 | chr12:69985839 | ENST00000298910 | + | 20 | 51 | 1084_1105 | 896.3333333333334 | 2528.0 | Repeat | Note=LRR 5 |
| Hgene | LRRK2 | chr12:40681341 | chr12:69985839 | ENST00000298910 | + | 20 | 51 | 1108_1129 | 896.3333333333334 | 2528.0 | Repeat | Note=LRR 6 |
| Hgene | LRRK2 | chr12:40681341 | chr12:69985839 | ENST00000298910 | + | 20 | 51 | 1130_1150 | 896.3333333333334 | 2528.0 | Repeat | Note=LRR 7 |
| Hgene | LRRK2 | chr12:40681341 | chr12:69985839 | ENST00000298910 | + | 20 | 51 | 1174_1196 | 896.3333333333334 | 2528.0 | Repeat | Note=LRR 8 |
| Hgene | LRRK2 | chr12:40681341 | chr12:69985839 | ENST00000298910 | + | 20 | 51 | 1197_1218 | 896.3333333333334 | 2528.0 | Repeat | Note=LRR 9 |
| Hgene | LRRK2 | chr12:40681341 | chr12:69985839 | ENST00000298910 | + | 20 | 51 | 1221_1241 | 896.3333333333334 | 2528.0 | Repeat | Note=LRR 10 |
| Hgene | LRRK2 | chr12:40681341 | chr12:69985839 | ENST00000298910 | + | 20 | 51 | 1246_1267 | 896.3333333333334 | 2528.0 | Repeat | Note=LRR 11 |
| Hgene | LRRK2 | chr12:40681341 | chr12:69985839 | ENST00000298910 | + | 20 | 51 | 1269_1291 | 896.3333333333334 | 2528.0 | Repeat | Note=LRR 12 |
| Hgene | LRRK2 | chr12:40681341 | chr12:69985839 | ENST00000298910 | + | 20 | 51 | 2139_2183 | 896.3333333333334 | 2528.0 | Repeat | Note=WD 1 |
| Hgene | LRRK2 | chr12:40681341 | chr12:69985839 | ENST00000298910 | + | 20 | 51 | 2188_2228 | 896.3333333333334 | 2528.0 | Repeat | Note=WD 2 |
| Hgene | LRRK2 | chr12:40681341 | chr12:69985839 | ENST00000298910 | + | 20 | 51 | 2233_2276 | 896.3333333333334 | 2528.0 | Repeat | Note=WD 3 |
| Hgene | LRRK2 | chr12:40681341 | chr12:69985839 | ENST00000298910 | + | 20 | 51 | 2281_2327 | 896.3333333333334 | 2528.0 | Repeat | Note=WD 4 |
| Hgene | LRRK2 | chr12:40681341 | chr12:69985839 | ENST00000298910 | + | 20 | 51 | 2333_2377 | 896.3333333333334 | 2528.0 | Repeat | Note=WD 5 |
| Hgene | LRRK2 | chr12:40681341 | chr12:69985839 | ENST00000298910 | + | 20 | 51 | 2402_2438 | 896.3333333333334 | 2528.0 | Repeat | Note=WD 6 |
| Hgene | LRRK2 | chr12:40681341 | chr12:69985839 | ENST00000298910 | + | 20 | 51 | 2443_2497 | 896.3333333333334 | 2528.0 | Repeat | Note=WD 7 |
| Hgene | LRRK2 | chr12:40681341 | chr12:69985839 | ENST00000298910 | + | 20 | 51 | 983_1004 | 896.3333333333334 | 2528.0 | Repeat | Note=LRR 1 |
Top |
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 |
| LRRK2 | |
| CCT2 |
| - 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 |
Top |
Related Drugs to LRRK2-CCT2 |
| Drugs used for this fusion-positive patient. (Manual curation of PubMed, 04-30-2022 + MyCancerGenome) |
| Hgene | Tgene | Drug | Source | PMID |
Top |
Related Diseases to LRRK2-CCT2 |
| 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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