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Fusion gene ID: 4838 |
FusionGeneSummary for C1orf111_SRC |
Fusion gene summary |
Fusion gene information | Fusion gene name: C1orf111_SRC | Fusion gene ID: 4838 | Hgene | Tgene | Gene symbol | C1orf111 | SRC | Gene ID | 284680 | 6714 |
Gene name | spermatogenesis associated 46 | SRC proto-oncogene, non-receptor tyrosine kinase | |
Synonyms | C1orf111|HSD20 | ASV|SRC1|THC6|c-SRC|p60-Src | |
Cytomap | 1q23.3 | 20q11.23 | |
Type of gene | protein-coding | protein-coding | |
Description | spermatogenesis-associated protein 46uncharacterized protein C1orf111 | proto-oncogene tyrosine-protein kinase Srcproto-oncogene c-Srcprotooncogene SRC, Rous sarcomatyrosine kinase pp60c-srctyrosine-protein kinase SRC-1v-src avian sarcoma (Schmidt-Ruppin A-2) viral oncogene homolog | |
Modification date | 20180523 | 20180527 | |
UniProtAcc | P12931 | ||
Ensembl transtripts involved in fusion gene | ENST00000367935, | ENST00000445403, ENST00000373578, ENST00000360723, ENST00000358208, ENST00000373567, ENST00000373558, ENST00000477066, | |
Fusion gene scores | * DoF score | 1 X 1 X 1=1 | 5 X 4 X 3=60 |
# samples | 1 | 4 | |
** MAII score | log2(1/1*10)=3.32192809488736 | log2(4/60*10)=-0.584962500721156 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
Context | PubMed: C1orf111 [Title/Abstract] AND SRC [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 |
Tgene | SRC | GO:0018108 | peptidyl-tyrosine phosphorylation | 12051764|22732588 |
Tgene | SRC | GO:0035556 | intracellular signal transduction | 15248232 |
Tgene | SRC | GO:0046777 | protein autophosphorylation | 16441665 |
Tgene | SRC | GO:0071902 | positive regulation of protein serine/threonine kinase activity | 19059439 |
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 |
ChiTaRS3.1 | BF515508 | C1orf111 | chr1 | 162345154 | + | SRC | chr20 | 35976957 | + |
* 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 |
intron-intron | ENST00000367935 | ENST00000445403 | C1orf111 | chr1 | 162345154 | + | SRC | chr20 | 35976957 | + |
intron-intron | ENST00000367935 | ENST00000373578 | C1orf111 | chr1 | 162345154 | + | SRC | chr20 | 35976957 | + |
intron-intron | ENST00000367935 | ENST00000360723 | C1orf111 | chr1 | 162345154 | + | SRC | chr20 | 35976957 | + |
intron-intron | ENST00000367935 | ENST00000358208 | C1orf111 | chr1 | 162345154 | + | SRC | chr20 | 35976957 | + |
intron-intron | ENST00000367935 | ENST00000373567 | C1orf111 | chr1 | 162345154 | + | SRC | chr20 | 35976957 | + |
intron-intron | ENST00000367935 | ENST00000373558 | C1orf111 | chr1 | 162345154 | + | SRC | chr20 | 35976957 | + |
intron-intron | ENST00000367935 | ENST00000477066 | C1orf111 | chr1 | 162345154 | + | SRC | chr20 | 35976957 | + |
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FusionProtFeatures for C1orf111_SRC |
Main function of each fusion partner protein. (from UniProt) |
Hgene | Tgene |
C1orf111 | SRC |
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}. | Non-receptor protein tyrosine kinase which is activatedfollowing engagement of many different classes of cellularreceptors including immune response receptors, integrins and otheradhesion receptors, receptor protein tyrosine kinases, G protein-coupled receptors as well as cytokine receptors. Participates insignaling pathways that control a diverse spectrum of biologicalactivities including gene transcription, immune response, celladhesion, cell cycle progression, apoptosis, migration, andtransformation. Due to functional redundancy between members ofthe SRC kinase family, identification of the specific role of eachSRC kinase is very difficult. SRC appears to be one of the primarykinases activated following engagement of receptors and plays arole in the activation of other protein tyrosine kinase (PTK)families. Receptor clustering or dimerization leads to recruitmentof SRC to the receptor complexes where it phosphorylates thetyrosine residues within the receptor cytoplasmic domains. Playsan important role in the regulation of cytoskeletal organizationthrough phosphorylation of specific substrates such as AFAP1.Phosphorylation of AFAP1 allows the SRC SH2 domain to bind AFAP1and to localize to actin filaments. Cytoskeletal reorganization isalso controlled through the phosphorylation of cortactin (CTTN)(Probable). When cells adhere via focal adhesions to theextracellular matrix, signals are transmitted by integrins intothe cell resulting in tyrosine phosphorylation of a number offocal adhesion proteins, including PTK2/FAK1 and paxillin (PXN)(PubMed:21411625). In addition to phosphorylating focal adhesionproteins, SRC is also active at the sites of cell-cell contactadherens junctions and phosphorylates substrates such as beta-catenin (CTNNB1), delta-catenin (CTNND1), and plakoglobin (JUP).Another type of cell-cell junction, the gap junction, is also atarget for SRC, which phosphorylates connexin-43 (GJA1). SRC isimplicated in regulation of pre-mRNA-processing and phosphorylatesRNA-binding proteins such as KHDRBS1 (Probable). Also plays a rolein PDGF-mediated tyrosine phosphorylation of both STAT1 and STAT3,leading to increased DNA binding activity of these transcriptionfactors (By similarity). Involved in the RAS pathway throughphosphorylation of RASA1 and RASGRF1 (PubMed:11389730). Plays arole in EGF-mediated calcium-activated chloride channel activation(PubMed:18586953). Required for epidermal growth factor receptor(EGFR) internalization through phosphorylation of clathrin heavychain (CLTC and CLTCL1) at 'Tyr-1477'. Involved in beta-arrestin(ARRB1 and ARRB2) desensitization through phosphorylation andactivation of GRK2, leading to beta-arrestin phosphorylation andinternalization. Has a critical role in the stimulation of theCDK20/MAPK3 mitogen-activated protein kinase cascade by epidermalgrowth factor (Probable). Might be involved not only in mediatingthe transduction of mitogenic signals at the level of the plasmamembrane but also in controlling progression through the cellcycle via interaction with regulatory proteins in the nucleus(PubMed:7853507). Plays an important role in osteoclastic boneresorption in conjunction with PTK2B/PYK2. Both the formation of aSRC-PTK2B/PYK2 complex and SRC kinase activity are necessary forthis function. Recruited to activated integrins by PTK2B/PYK2,thereby phosphorylating CBL, which in turn induces the activationand recruitment of phosphatidylinositol 3-kinase to the cellmembrane in a signaling pathway that is critical for osteoclastfunction (PubMed:8755529, PubMed:14585963). Promotes energyproduction in osteoclasts by activating mitochondrial cytochrome Coxidase (PubMed:12615910). Phosphorylates DDR2 on tyrosineresidues, thereby promoting its subsequent autophosphorylation(PubMed:16186108). Phosphorylates RUNX3 and COX2 on tyrosineresidues, TNK2 on 'Tyr-284' and CBL on 'Tyr-731' (PubMed:20100835,PubMed:21309750). Enhances DDX58/RIG-I-elicited antiviralsignaling (PubMed:19419966). Phosphorylates PDPK1 at 'Tyr-9','Tyr-373' and 'Tyr-376' (PubMed:14585963). Phosphorylates BCAR1 at'Tyr-128' (PubMed:22710723). Phosphorylates CBLC at multipletyrosine residues, phosphorylation at 'Tyr-341' activates CBLC E3activity (PubMed:20525694). Involved in anchorage-independent cellgrowth (PubMed:19307596). Required for podosome formation (Bysimilarity). {ECO:0000250|UniProtKB:P05480,ECO:0000269|PubMed:11389730, ECO:0000269|PubMed:12615910,ECO:0000269|PubMed:14585963, ECO:0000269|PubMed:16186108,ECO:0000269|PubMed:18586953, ECO:0000269|PubMed:19307596,ECO:0000269|PubMed:19419966, ECO:0000269|PubMed:20100835,ECO:0000269|PubMed:20525694, ECO:0000269|PubMed:21309750,ECO:0000269|PubMed:21411625, ECO:0000269|PubMed:22710723,ECO:0000269|PubMed:7853507, ECO:0000269|PubMed:8755529,ECO:0000269|PubMed:8759729, ECO:0000305|PubMed:11964124,ECO:0000305|PubMed:8672527, ECO:0000305|PubMed:9442882}. |
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 |
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FusionGeneSequence for C1orf111_SRC |
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. |
* Fusion transcript sequences (only coding sequence (CDS) region). |
* Fusion transcript sequences (Full-length transcript). |
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FusionGenePPI for C1orf111_SRC |
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 |
- 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 C1orf111_SRC |
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 |
Tgene | SRC | P12931 | DB06616 | Bosutinib | Proto-oncogene tyrosine-protein kinase Src | small molecule | approved |
Tgene | SRC | P12931 | DB09079 | Nintedanib | Proto-oncogene tyrosine-protein kinase Src | small molecule | approved |
Tgene | SRC | P12931 | DB01254 | Dasatinib | Proto-oncogene tyrosine-protein kinase Src | small molecule | approved|investigational |
Tgene | SRC | P12931 | DB08901 | Ponatinib | Proto-oncogene tyrosine-protein kinase Src | small molecule | approved|investigational |
Tgene | SRC | P12931 | DB04272 | Citric Acid | Proto-oncogene tyrosine-protein kinase Src | small molecule | approved|nutraceutical|vet_approved |
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RelatedDiseases for C1orf111_SRC |
Diseases associated with fusion partners. (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Tgene | SRC | C0005695 | Bladder Neoplasm | 2 | CTD_human |
Tgene | SRC | C0027626 | Neoplasm Invasiveness | 2 | CTD_human |
Tgene | SRC | C0009319 | Colitis | 1 | CTD_human |
Tgene | SRC | C0009375 | Colonic Neoplasms | 1 | CTD_human |
Tgene | SRC | C0018800 | Cardiomegaly | 1 | CTD_human |
Tgene | SRC | C0038220 | Status Epilepticus | 1 | CTD_human |
Tgene | SRC | C0085548 | Autosomal Recessive Polycystic Kidney Disease | 1 | CTD_human |
Tgene | SRC | C1458155 | Mammary Neoplasms | 1 | CTD_human |