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Fusion gene ID: 14406 |
FusionGeneSummary for GAS6_IGKC |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: GAS6_IGKC | Fusion gene ID: 14406 | Hgene | Tgene | Gene symbol | GAS6 | IGKC | Gene ID | 2621 | 3514 |
| Gene name | growth arrest specific 6 | immunoglobulin kappa constant | |
| Synonyms | AXLLG|AXSF | HCAK1|IGKCD|Km | |
| Cytomap | 13q34 | 2p11.2 | |
| Type of gene | protein-coding | other | |
| Description | growth arrest-specific protein 6AXL receptor tyrosine kinase ligandAXL stimulatory factor | immunoglobulin kappa (invariant region)immunoglobulin kappa constant regionimmunoglobulin kappa light chain (VJ) | |
| Modification date | 20180527 | 20180523 | |
| UniProtAcc | Q14393 | P01834 | |
| Ensembl transtripts involved in fusion gene | ENST00000357389, ENST00000327773, ENST00000476291, ENST00000418959, ENST00000450766, ENST00000355761, | ENST00000390237, | |
| Fusion gene scores | * DoF score | 4 X 5 X 3=60 | 21 X 29 X 2=1218 |
| # samples | 5 | 35 | |
| ** MAII score | log2(5/60*10)=-0.263034405833794 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(35/1218*10)=-1.799087306074 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: GAS6 [Title/Abstract] AND IGKC [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 |
| Hgene | GAS6 | GO:0001934 | positive regulation of protein phosphorylation | 7854420|16723520|20103767 |
| Hgene | GAS6 | GO:0006468 | protein phosphorylation | 16359517 |
| Hgene | GAS6 | GO:0006909 | phagocytosis | 21501828 |
| Hgene | GAS6 | GO:0007165 | signal transduction | 7854420|18680538 |
| Hgene | GAS6 | GO:0010628 | positive regulation of gene expression | 19657094 |
| Hgene | GAS6 | GO:0010804 | negative regulation of tumor necrosis factor-mediated signaling pathway | 19657094 |
| Hgene | GAS6 | GO:0018105 | peptidyl-serine phosphorylation | 18680538|20103767 |
| Hgene | GAS6 | GO:0019064 | fusion of virus membrane with host plasma membrane | 21501828 |
| Hgene | GAS6 | GO:0019079 | viral genome replication | 21501828 |
| Hgene | GAS6 | GO:0032689 | negative regulation of interferon-gamma production | 18840707 |
| Hgene | GAS6 | GO:0032715 | negative regulation of interleukin-6 production | 19657094 |
| Hgene | GAS6 | GO:0032720 | negative regulation of tumor necrosis factor production | 19657094|20103767 |
| Hgene | GAS6 | GO:0032825 | positive regulation of natural killer cell differentiation | 18840707 |
| Hgene | GAS6 | GO:0033138 | positive regulation of peptidyl-serine phosphorylation | 16723520 |
| Hgene | GAS6 | GO:0033159 | negative regulation of protein import into nucleus, translocation | 20103767 |
| Hgene | GAS6 | GO:0035457 | cellular response to interferon-alpha | 19657094 |
| Hgene | GAS6 | GO:0035690 | cellular response to drug | 16359517 |
| Hgene | GAS6 | GO:0035754 | B cell chemotaxis | 19922767 |
| Hgene | GAS6 | GO:0043066 | negative regulation of apoptotic process | 19922767 |
| Hgene | GAS6 | GO:0043154 | negative regulation of cysteine-type endopeptidase activity involved in apoptotic process | 16723520 |
| Hgene | GAS6 | GO:0043277 | apoptotic cell clearance | 21501828 |
| Hgene | GAS6 | GO:0043433 | negative regulation of DNA binding transcription factor activity | 18680538 |
| Hgene | GAS6 | GO:0043491 | protein kinase B signaling | 16723520|20103767 |
| Hgene | GAS6 | GO:0045860 | positive regulation of protein kinase activity | 7854420 |
| Hgene | GAS6 | GO:0045892 | negative regulation of transcription, DNA-templated | 18680538 |
| Hgene | GAS6 | GO:0046718 | viral entry into host cell | 21501828 |
| Hgene | GAS6 | GO:0046813 | receptor-mediated virion attachment to host cell | 21501828 |
| Hgene | GAS6 | GO:0046827 | positive regulation of protein export from nucleus | 18680538 |
| Hgene | GAS6 | GO:0048146 | positive regulation of fibroblast proliferation | 7854420|15184064 |
| Hgene | GAS6 | GO:0050711 | negative regulation of interleukin-1 secretion | 20103767 |
| Hgene | GAS6 | GO:0050766 | positive regulation of phagocytosis | 18395422 |
| Hgene | GAS6 | GO:0051897 | positive regulation of protein kinase B signaling | 16359517|16723520|18680538 |
| Hgene | GAS6 | GO:0061098 | positive regulation of protein tyrosine kinase activity | 20103767 |
| Hgene | GAS6 | GO:0070168 | negative regulation of biomineral tissue development | 20048160 |
| Hgene | GAS6 | GO:0070374 | positive regulation of ERK1 and ERK2 cascade | 15184064 |
| Hgene | GAS6 | GO:0070588 | calcium ion transmembrane transport | 18395422 |
| Hgene | GAS6 | GO:0071307 | cellular response to vitamin K | 16359517 |
| Hgene | GAS6 | GO:0072659 | protein localization to plasma membrane | 16359517 |
| Hgene | GAS6 | GO:0097241 | hematopoietic stem cell migration to bone marrow | 19922767 |
| Hgene | GAS6 | GO:1900142 | negative regulation of oligodendrocyte apoptotic process | 16723520 |
| Hgene | GAS6 | GO:1900165 | negative regulation of interleukin-6 secretion | 20103767 |
| Hgene | GAS6 | GO:2000270 | negative regulation of fibroblast apoptotic process | 16359517 |
| Hgene | GAS6 | GO:2000352 | negative regulation of endothelial cell apoptotic process | 16359517|18680538|18760998 |
| Hgene | GAS6 | GO:2000510 | positive regulation of dendritic cell chemotaxis | 19657094 |
| Hgene | GAS6 | GO:2000669 | negative regulation of dendritic cell apoptotic process | 19657094 |
| 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 | CB986192 | GAS6 | chr13 | 114539826 | - | IGKC | chr2 | 89156749 | - |
| * 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-3UTR | ENST00000357389 | ENST00000390237 | GAS6 | chr13 | 114539826 | - | IGKC | chr2 | 89156749 | - |
| intron-3UTR | ENST00000327773 | ENST00000390237 | GAS6 | chr13 | 114539826 | - | IGKC | chr2 | 89156749 | - |
| intron-3UTR | ENST00000476291 | ENST00000390237 | GAS6 | chr13 | 114539826 | - | IGKC | chr2 | 89156749 | - |
| intron-3UTR | ENST00000418959 | ENST00000390237 | GAS6 | chr13 | 114539826 | - | IGKC | chr2 | 89156749 | - |
| intron-3UTR | ENST00000450766 | ENST00000390237 | GAS6 | chr13 | 114539826 | - | IGKC | chr2 | 89156749 | - |
| intron-3UTR | ENST00000355761 | ENST00000390237 | GAS6 | chr13 | 114539826 | - | IGKC | chr2 | 89156749 | - |
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FusionProtFeatures for GAS6_IGKC |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| GAS6 | IGKC |
| Ligand for tyrosine-protein kinase receptors AXL, TYRO3and MER whose signaling is implicated in cell growth and survival,cell adhesion and cell migration. GAS6/AXL signaling plays a rolein various processes such as endothelial cell survival duringacidification by preventing apoptosis, optimal cytokine signalingduring human natural killer cell development, hepaticregeneration, gonadotropin-releasing hormone neuron survival andmigration, platelet activation, or regulation of thromboticresponses. {ECO:0000269|PubMed:12364394,ECO:0000269|PubMed:18840707}. (Microbial infection) Can bridges virus envelopephosphatidylserine to the TAM receptor tyrosine kinase Axl tomediate viral entry by apoptotic mimicry (PubMed:21501828). Playsa role in Dengue cell entry by apoptotic mimicry(PubMed:23084921). Plays a role in Vaccinia virus cell entry byapoptotic mimicry (PubMed:21501828). Plays a role in ebolavirusand marburgvirus cell entry by apoptotic mimicry(PubMed:17005688). {ECO:0000269|PubMed:17005688,ECO:0000269|PubMed:21501828, ECO:0000269|PubMed:23084921}. | Constant region of immunoglobulin heavy chains.Immunoglobulins, also known as antibodies, are membrane-bound orsecreted glycoproteins produced by B lymphocytes. In therecognition phase of humoral immunity, the membrane-boundimmunoglobulins serve as receptors which, upon binding of aspecific antigen, trigger the clonal expansion and differentiationof B lymphocytes into immunoglobulins-secreting plasma cells.Secreted immunoglobulins mediate the effector phase of humoralimmunity, which results in the elimination of bound antigens(PubMed:22158414, PubMed:20176268). The antigen binding site isformed by the variable domain of one heavy chain, together withthat of its associated light chain. Thus, each immunoglobulin hastwo antigen binding sites with remarkable affinity for aparticular antigen. The variable domains are assembled by aprocess called V-(D)-J rearrangement and can then be subjected tosomatic hypermutations which, after exposure to antigen andselection, allow affinity maturation for a particular antigen(PubMed:17576170, PubMed:20176268). {ECO:0000303|PubMed:17576170,ECO:0000303|PubMed:20176268, ECO:0000303|PubMed:22158414}. |
| 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 GAS6_IGKC |
| 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 GAS6_IGKC |
| 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 GAS6_IGKC |
| 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 GAS6_IGKC |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | GAS6 | C0040053 | Thrombosis | 4 | CTD_human |
| Hgene | GAS6 | C0010606 | Adenoid Cystic Carcinoma | 1 | CTD_human |
| Hgene | GAS6 | C0011881 | Diabetic Nephropathy | 1 | CTD_human |
| Hgene | GAS6 | C0018800 | Cardiomegaly | 1 | CTD_human |
| Hgene | GAS6 | C0036095 | Salivary Gland Neoplasms | 1 | CTD_human |
| Hgene | GAS6 | C0040038 | Thromboembolism | 1 | CTD_human |
| Hgene | GAS6 | C2609414 | Acute kidney injury | 1 | CTD_human |
| Tgene | IGKC | C0013374 | Dysgammaglobulinemia | 1 | CTD_human |
| Tgene | IGKC | C0027121 | Myositis | 1 | CTD_human |
| Tgene | IGKC | C3279824 | Kappa-Chain Deficiency | 1 | ORPHANET;UNIPROT |
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