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Fusion gene ID: 37383 |
FusionGeneSummary for TBC1D23_TMEM30C |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: TBC1D23_TMEM30C | Fusion gene ID: 37383 | Hgene | Tgene | Gene symbol | TBC1D23 | TMEM30C | Gene ID | 55773 | 644444 |
| Gene name | TBC1 domain family member 23 | transmembrane protein 30C, pseudogene | |
| Synonyms | NS4ATP1|PCH11 | CDC50C|TMEM30C | |
| Cytomap | 3q12.1-q12.2 | 3q12.1 | |
| Type of gene | protein-coding | pseudo | |
| Description | TBC1 domain family member 23HCV non-structural protein 4A-transactivated protein 1HCV nonstructural protein 4A-transactivated protein 1 | - | |
| Modification date | 20180519 | 20180523 | |
| UniProtAcc | Q9NUY8 | ||
| Ensembl transtripts involved in fusion gene | ENST00000344949, ENST00000394144, ENST00000486274, ENST00000475134, | ENST00000429523, ENST00000489487, | |
| Fusion gene scores | * DoF score | 3 X 3 X 3=27 | 1 X 1 X 1=1 |
| # samples | 3 | 1 | |
| ** MAII score | log2(3/27*10)=0.15200309344505 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | log2(1/1*10)=3.32192809488736 | |
| Context | PubMed: TBC1D23 [Title/Abstract] AND TMEM30C [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) |
| 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 | UCS | TCGA-N5-A4RT-01A | TBC1D23 | chr3 | 100009545 | + | TMEM30C | chr3 | 99908785 | + |
| * 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 | ENST00000344949 | ENST00000429523 | TBC1D23 | chr3 | 100009545 | + | TMEM30C | chr3 | 99908785 | + |
| 5CDS-3UTR | ENST00000344949 | ENST00000489487 | TBC1D23 | chr3 | 100009545 | + | TMEM30C | chr3 | 99908785 | + |
| In-frame | ENST00000394144 | ENST00000429523 | TBC1D23 | chr3 | 100009545 | + | TMEM30C | chr3 | 99908785 | + |
| 5CDS-3UTR | ENST00000394144 | ENST00000489487 | TBC1D23 | chr3 | 100009545 | + | TMEM30C | chr3 | 99908785 | + |
| 3UTR-3CDS | ENST00000486274 | ENST00000429523 | TBC1D23 | chr3 | 100009545 | + | TMEM30C | chr3 | 99908785 | + |
| 3UTR-3UTR | ENST00000486274 | ENST00000489487 | TBC1D23 | chr3 | 100009545 | + | TMEM30C | chr3 | 99908785 | + |
| In-frame | ENST00000475134 | ENST00000429523 | TBC1D23 | chr3 | 100009545 | + | TMEM30C | chr3 | 99908785 | + |
| 5CDS-3UTR | ENST00000475134 | ENST00000489487 | TBC1D23 | chr3 | 100009545 | + | TMEM30C | chr3 | 99908785 | + |
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FusionProtFeatures for TBC1D23_TMEM30C |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| TBC1D23 | TMEM30C |
| Putative Rab GTPase-activating protein which plays arole in vesicular trafficking (PubMed:28823707). Involved inendosome-to-Golgi trafficking. Acts as a bridging protein bybinding simultaneously to golgins, including GOLGA1 and GOLGA4,located at the trans-Golgi, and to the WASH complex, located onendosome-derived vesicles (PubMed:29084197). Plays a role in braindevelopment, including in cortical neuron positioning (Bysimilarity). May also be important for neurite outgrowth, possiblythrough its involvement in membrane trafficking and cargodelivery, 2 processes that are essential for axonal and dendriticgrowth (By similarity). May act as a general inhibitor of innateimmunity signaling, strongly inhibiting multiple TLR anddectin/CLEC7A-signaling pathways. Does not alter initialactivation events, but instead affects maintenance of inflammatorygene expression several hours after bacterial lipopolysaccharide(LPS) challenge (By similarity). {ECO:0000250|UniProtKB:Q8K0F1,ECO:0000269|PubMed:28823707}. | 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 |
| - 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 |
| Hgene | >TBC1D23 | chr3:100009545 | chr3:99908785 | ENST00000344949 | + | 5 | 18 | 334_446 | 200 | 685 | Domain | Rhodanese |
| Hgene | >TBC1D23 | chr3:100009545 | chr3:99908785 | ENST00000344949 | + | 5 | 18 | 44_225 | 200 | 685 | Domain | Rab-GAP TBC |
| Hgene | >TBC1D23 | chr3:100009545 | chr3:99908785 | ENST00000394144 | + | 5 | 19 | 334_446 | 200 | 700 | Domain | Rhodanese |
| Hgene | >TBC1D23 | chr3:100009545 | chr3:99908785 | ENST00000394144 | + | 5 | 19 | 44_225 | 200 | 700 | Domain | Rab-GAP TBC |
| Tgene | TMEM30C | chr3:100009545 | chr3:99908785 | ENST00000429523 | + | 0 | 2 | 1_34 | 64 | 114 | Topological domain | Cytoplasmic |
| Tgene | TMEM30C | chr3:100009545 | chr3:99908785 | ENST00000429523 | + | 0 | 2 | 56_113 | 64 | 114 | Topological domain | Extracellular |
| Tgene | TMEM30C | chr3:100009545 | chr3:99908785 | ENST00000429523 | + | 0 | 2 | 35_55 | 64 | 114 | Transmembrane | Helical |
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FusionGeneSequence for TBC1D23_TMEM30C |
| 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_TBC1D23_ENST00000344949_chr3_100009545_+_TMEM30C_ENST00000429523_chr3_99908785_+_250aa MAEGEDVPPLPTSSGDGWEKDLEEALEAGGCDLETLRNIIQGRPLPADLRAKVWKIALNVAGKGDSLASWDGILDLPEQNTIHKDCLQFI DQLSVPEEKAAELLLDIESVITFYCKSRNIKYSTSLSWIHLLKPLVHLQLPRSDLYNCFYAIMNKYIPRDCSQKGRPFHLFRLLIQYHEP >In-frame_TBC1D23_ENST00000394144_chr3_100009545_+_TMEM30C_ENST00000429523_chr3_99908785_+_250aa MAEGEDVPPLPTSSGDGWEKDLEEALEAGGCDLETLRNIIQGRPLPADLRAKVWKIALNVAGKGDSLASWDGILDLPEQNTIHKDCLQFI DQLSVPEEKAAELLLDIESVITFYCKSRNIKYSTSLSWIHLLKPLVHLQLPRSDLYNCFYAIMNKYIPRDCSQKGRPFHLFRLLIQYHEP >In-frame_TBC1D23_ENST00000475134_chr3_100009545_+_TMEM30C_ENST00000429523_chr3_99908785_+_113aa MGWYFRLARTEHYSQRLPAVYWDCSQKGRPFHLFRLLIQYHEPELCSYLDTKKITPDSYALNWINYTRICANCAKLRENASNFDKECTCS |
| * Fusion transcript sequences (only coding sequence (CDS) region). |
| >In-frame_TBC1D23_ENST00000344949_chr3_100009545_+_TMEM30C_ENST00000429523_chr3_99908785_+_750nt ATGGCGGAAGGAGAAGATGTGCCGCCGCTGCCAACGTCGAGCGGCGACGGCTGGGAAAAAGATCTTGAAGAAGCTCTGGAAGCAGGAGGT TGTGATCTTGAAACGTTGAGAAATATAATTCAAGGAAGACCGCTGCCTGCTGATCTGAGGGCCAAAGTTTGGAAGATTGCTCTGAATGTT GCAGGAAAAGGTGATAGTTTGGCATCATGGGATGGTATTTTAGACTTGCCAGAACAGAACACTATTCACAAAGATTGCCTGCAGTTTATT GACCAGCTTTCAGTGCCAGAGGAGAAGGCAGCAGAATTACTTTTGGATATTGAATCTGTAATTACCTTTTATTGTAAATCACGTAACATT AAATATAGCACATCCCTTAGCTGGATACATCTACTGAAACCATTGGTGCATCTTCAACTGCCACGCAGCGATTTATACAACTGCTTTTAT GCCATAATGAATAAGTACATTCCCAGGGATTGTTCCCAGAAAGGGAGACCATTTCATCTCTTCAGGTTGCTCATCCAATACCATGAGCCT GAGCTTTGTTCTTATCTTGATACAAAGAAAATTACTCCAGACTCCTATGCACTCAACTGGATTAATTACACAAGAATATGTGCAAATTGT GCAAAACTGCGAGAAAATGCCTCTAATTTTGACAAGGAATGCACCTGCTCTATTCCCTTTTACCTTTCAGGAAAAATGATGGTAGGTGAA >In-frame_TBC1D23_ENST00000394144_chr3_100009545_+_TMEM30C_ENST00000429523_chr3_99908785_+_750nt ATGGCGGAAGGAGAAGATGTGCCGCCGCTGCCAACGTCGAGCGGCGACGGCTGGGAAAAAGATCTTGAAGAAGCTCTGGAAGCAGGAGGT TGTGATCTTGAAACGTTGAGAAATATAATTCAAGGAAGACCGCTGCCTGCTGATCTGAGGGCCAAAGTTTGGAAGATTGCTCTGAATGTT GCAGGAAAAGGTGATAGTTTGGCATCATGGGATGGTATTTTAGACTTGCCAGAACAGAACACTATTCACAAAGATTGCCTGCAGTTTATT GACCAGCTTTCAGTGCCAGAGGAGAAGGCAGCAGAATTACTTTTGGATATTGAATCTGTAATTACCTTTTATTGTAAATCACGTAACATT AAATATAGCACATCCCTTAGCTGGATACATCTACTGAAACCATTGGTGCATCTTCAACTGCCACGCAGCGATTTATACAACTGCTTTTAT GCCATAATGAATAAGTACATTCCCAGGGATTGTTCCCAGAAAGGGAGACCATTTCATCTCTTCAGGTTGCTCATCCAATACCATGAGCCT GAGCTTTGTTCTTATCTTGATACAAAGAAAATTACTCCAGACTCCTATGCACTCAACTGGATTAATTACACAAGAATATGTGCAAATTGT GCAAAACTGCGAGAAAATGCCTCTAATTTTGACAAGGAATGCACCTGCTCTATTCCCTTTTACCTTTCAGGAAAAATGATGGTAGGTGAA >In-frame_TBC1D23_ENST00000475134_chr3_100009545_+_TMEM30C_ENST00000429523_chr3_99908785_+_339nt ATGGGATGGTATTTTAGACTTGCCAGAACAGAACACTATTCACAAAGATTGCCTGCAGTTTATTGGGATTGTTCCCAGAAAGGGAGACCA TTTCATCTCTTCAGGTTGCTCATCCAATACCATGAGCCTGAGCTTTGTTCTTATCTTGATACAAAGAAAATTACTCCAGACTCCTATGCA CTCAACTGGATTAATTACACAAGAATATGTGCAAATTGTGCAAAACTGCGAGAAAATGCCTCTAATTTTGACAAGGAATGCACCTGCTCT |
| * Fusion transcript sequences (Full-length transcript). |
| >In-frame_TBC1D23_ENST00000344949_chr3_100009545_+_TMEM30C_ENST00000429523_chr3_99908785_+_870nt ACGTGGACGTCAACAGCAATGGCGGAAGGAGAAGATGTGCCGCCGCTGCCAACGTCGAGCGGCGACGGCTGGGAAAAAGATCTTGAAGAA GCTCTGGAAGCAGGAGGTTGTGATCTTGAAACGTTGAGAAATATAATTCAAGGAAGACCGCTGCCTGCTGATCTGAGGGCCAAAGTTTGG AAGATTGCTCTGAATGTTGCAGGAAAAGGTGATAGTTTGGCATCATGGGATGGTATTTTAGACTTGCCAGAACAGAACACTATTCACAAA GATTGCCTGCAGTTTATTGACCAGCTTTCAGTGCCAGAGGAGAAGGCAGCAGAATTACTTTTGGATATTGAATCTGTAATTACCTTTTAT TGTAAATCACGTAACATTAAATATAGCACATCCCTTAGCTGGATACATCTACTGAAACCATTGGTGCATCTTCAACTGCCACGCAGCGAT TTATACAACTGCTTTTATGCCATAATGAATAAGTACATTCCCAGGGATTGTTCCCAGAAAGGGAGACCATTTCATCTCTTCAGGTTGCTC ATCCAATACCATGAGCCTGAGCTTTGTTCTTATCTTGATACAAAGAAAATTACTCCAGACTCCTATGCACTCAACTGGATTAATTACACA AGAATATGTGCAAATTGTGCAAAACTGCGAGAAAATGCCTCTAATTTTGACAAGGAATGCACCTGCTCTATTCCCTTTTACCTTTCAGGA AAAATGATGGTAGGTGAAATTCAAGAAACTCGGTTGACTTTACACTGATCTATTCCTATGTAACACTTAGCAGTAAGTTCACAATTTCCA >In-frame_TBC1D23_ENST00000394144_chr3_100009545_+_TMEM30C_ENST00000429523_chr3_99908785_+_859nt AACAGCAATGGCGGAAGGAGAAGATGTGCCGCCGCTGCCAACGTCGAGCGGCGACGGCTGGGAAAAAGATCTTGAAGAAGCTCTGGAAGC AGGAGGTTGTGATCTTGAAACGTTGAGAAATATAATTCAAGGAAGACCGCTGCCTGCTGATCTGAGGGCCAAAGTTTGGAAGATTGCTCT GAATGTTGCAGGAAAAGGTGATAGTTTGGCATCATGGGATGGTATTTTAGACTTGCCAGAACAGAACACTATTCACAAAGATTGCCTGCA GTTTATTGACCAGCTTTCAGTGCCAGAGGAGAAGGCAGCAGAATTACTTTTGGATATTGAATCTGTAATTACCTTTTATTGTAAATCACG TAACATTAAATATAGCACATCCCTTAGCTGGATACATCTACTGAAACCATTGGTGCATCTTCAACTGCCACGCAGCGATTTATACAACTG CTTTTATGCCATAATGAATAAGTACATTCCCAGGGATTGTTCCCAGAAAGGGAGACCATTTCATCTCTTCAGGTTGCTCATCCAATACCA TGAGCCTGAGCTTTGTTCTTATCTTGATACAAAGAAAATTACTCCAGACTCCTATGCACTCAACTGGATTAATTACACAAGAATATGTGC AAATTGTGCAAAACTGCGAGAAAATGCCTCTAATTTTGACAAGGAATGCACCTGCTCTATTCCCTTTTACCTTTCAGGAAAAATGATGGT AGGTGAAATTCAAGAAACTCGGTTGACTTTACACTGATCTATTCCTATGTAACACTTAGCAGTAAGTTCACAATTTCCATGAAATGCTTT >In-frame_TBC1D23_ENST00000475134_chr3_100009545_+_TMEM30C_ENST00000429523_chr3_99908785_+_803nt AACTAAGGGTAAAATGAGAGTAAATTGACTGTATGAAGCCTGAGATTTCCCACAAGAAAACATGCTGTGTATACCTTGGCATTACATTTT GGTTGCTGAGAACTTTTGTTTCTTAGACAAGCCTTTAATAGGCCATGCTTATAAATGAATCTTGAATAAGAAAAAGTATGAGATAAAGTT CATTTTAATAAATAGGACTTATTTTTTAGGGAAAAAGATCTTGAAGAAGCTCTGGAAGCAGGAGGTTGTGATCTTGAAACGTTGAGAAAT ATAATTCAAGGAAGACCGCTGCCTGCTGATCTGAGGGCCAAAGTTTGGAAGATTGCTCTGAATGTTGCAGGAAAAGGTGATAGTTTGGCA TCATGGGATGGTATTTTAGACTTGCCAGAACAGAACACTATTCACAAAGATTGCCTGCAGTTTATTGGGATTGTTCCCAGAAAGGGAGAC CATTTCATCTCTTCAGGTTGCTCATCCAATACCATGAGCCTGAGCTTTGTTCTTATCTTGATACAAAGAAAATTACTCCAGACTCCTATG CACTCAACTGGATTAATTACACAAGAATATGTGCAAATTGTGCAAAACTGCGAGAAAATGCCTCTAATTTTGACAAGGAATGCACCTGCT CTATTCCCTTTTACCTTTCAGGAAAAATGATGGTAGGTGAAATTCAAGAAACTCGGTTGACTTTACACTGATCTATTCCTATGTAACACT |
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FusionGenePPI for TBC1D23_TMEM30C |
| 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 |
| TBC1D23 | EHD2, C12orf45, SSBP3, KRTAP4-12, WDR62, CAGE1, KRTAP10-9, KRTAP10-8, KRTAP10-3, HS2ST1, SLAMF7, NPDC1, FLYWCH2, GLRX3, OSGEP, API5, STK11, HSPA8, KBTBD7 | TMEM30C |
| - 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 TBC1D23_TMEM30C |
| 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 TBC1D23_TMEM30C |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
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