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Fusion gene ID: 12575 |
FusionGeneSummary for FAM13A_IGF1R |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: FAM13A_IGF1R | Fusion gene ID: 12575 | Hgene | Tgene | Gene symbol | FAM13A | IGF1R | Gene ID | 10144 | 3480 |
| Gene name | family with sequence similarity 13 member A | insulin like growth factor 1 receptor | |
| Synonyms | ARHGAP48|FAM13A1 | CD221|IGFIR|IGFR|JTK13 | |
| Cytomap | 4q22.1 | 15q26.3 | |
| Type of gene | protein-coding | protein-coding | |
| Description | protein FAM13AFAM13A1_v2 proteinfamily with sequence similarity 13, member A1 | insulin-like growth factor 1 receptorIGF-I receptorsoluble IGF1R variant 1soluble IGF1R variant 2 | |
| Modification date | 20180519 | 20180527 | |
| UniProtAcc | O94988 | P08069 | |
| Ensembl transtripts involved in fusion gene | ENST00000395002, ENST00000264344, ENST00000503556, ENST00000511976, ENST00000508369, ENST00000513837, ENST00000502459, ENST00000509094, ENST00000515600, | ENST00000268035, ENST00000558762, ENST00000560432, | |
| Fusion gene scores | * DoF score | 3 X 3 X 3=27 | 7 X 6 X 4=168 |
| # samples | 3 | 8 | |
| ** MAII score | log2(3/27*10)=0.15200309344505 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | log2(8/168*10)=-1.0703893278914 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: FAM13A [Title/Abstract] AND IGF1R [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 | IGF1R | GO:0043066 | negative regulation of apoptotic process | 12556535 |
| Tgene | IGF1R | GO:0046328 | regulation of JNK cascade | 12556535 |
| Tgene | IGF1R | GO:0046777 | protein autophosphorylation | 1846292|7679099|11162456 |
| Tgene | IGF1R | GO:0048009 | insulin-like growth factor receptor signaling pathway | 7679099 |
| Tgene | IGF1R | GO:0048015 | phosphatidylinositol-mediated signaling | 7692086 |
| Tgene | IGF1R | GO:0051262 | protein tetramerization | 1846292 |
| Tgene | IGF1R | GO:0051389 | inactivation of MAPKK activity | 12556535 |
| 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 | BF854623 | FAM13A | chr4 | 89698566 | + | IGF1R | chr15 | 99276714 | + |
| * 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 | ENST00000395002 | ENST00000268035 | FAM13A | chr4 | 89698566 | + | IGF1R | chr15 | 99276714 | + |
| intron-intron | ENST00000395002 | ENST00000558762 | FAM13A | chr4 | 89698566 | + | IGF1R | chr15 | 99276714 | + |
| intron-intron | ENST00000395002 | ENST00000560432 | FAM13A | chr4 | 89698566 | + | IGF1R | chr15 | 99276714 | + |
| intron-intron | ENST00000264344 | ENST00000268035 | FAM13A | chr4 | 89698566 | + | IGF1R | chr15 | 99276714 | + |
| intron-intron | ENST00000264344 | ENST00000558762 | FAM13A | chr4 | 89698566 | + | IGF1R | chr15 | 99276714 | + |
| intron-intron | ENST00000264344 | ENST00000560432 | FAM13A | chr4 | 89698566 | + | IGF1R | chr15 | 99276714 | + |
| intron-intron | ENST00000503556 | ENST00000268035 | FAM13A | chr4 | 89698566 | + | IGF1R | chr15 | 99276714 | + |
| intron-intron | ENST00000503556 | ENST00000558762 | FAM13A | chr4 | 89698566 | + | IGF1R | chr15 | 99276714 | + |
| intron-intron | ENST00000503556 | ENST00000560432 | FAM13A | chr4 | 89698566 | + | IGF1R | chr15 | 99276714 | + |
| intron-intron | ENST00000511976 | ENST00000268035 | FAM13A | chr4 | 89698566 | + | IGF1R | chr15 | 99276714 | + |
| intron-intron | ENST00000511976 | ENST00000558762 | FAM13A | chr4 | 89698566 | + | IGF1R | chr15 | 99276714 | + |
| intron-intron | ENST00000511976 | ENST00000560432 | FAM13A | chr4 | 89698566 | + | IGF1R | chr15 | 99276714 | + |
| intron-intron | ENST00000508369 | ENST00000268035 | FAM13A | chr4 | 89698566 | + | IGF1R | chr15 | 99276714 | + |
| intron-intron | ENST00000508369 | ENST00000558762 | FAM13A | chr4 | 89698566 | + | IGF1R | chr15 | 99276714 | + |
| intron-intron | ENST00000508369 | ENST00000560432 | FAM13A | chr4 | 89698566 | + | IGF1R | chr15 | 99276714 | + |
| intron-intron | ENST00000513837 | ENST00000268035 | FAM13A | chr4 | 89698566 | + | IGF1R | chr15 | 99276714 | + |
| intron-intron | ENST00000513837 | ENST00000558762 | FAM13A | chr4 | 89698566 | + | IGF1R | chr15 | 99276714 | + |
| intron-intron | ENST00000513837 | ENST00000560432 | FAM13A | chr4 | 89698566 | + | IGF1R | chr15 | 99276714 | + |
| intron-intron | ENST00000502459 | ENST00000268035 | FAM13A | chr4 | 89698566 | + | IGF1R | chr15 | 99276714 | + |
| intron-intron | ENST00000502459 | ENST00000558762 | FAM13A | chr4 | 89698566 | + | IGF1R | chr15 | 99276714 | + |
| intron-intron | ENST00000502459 | ENST00000560432 | FAM13A | chr4 | 89698566 | + | IGF1R | chr15 | 99276714 | + |
| intron-intron | ENST00000509094 | ENST00000268035 | FAM13A | chr4 | 89698566 | + | IGF1R | chr15 | 99276714 | + |
| intron-intron | ENST00000509094 | ENST00000558762 | FAM13A | chr4 | 89698566 | + | IGF1R | chr15 | 99276714 | + |
| intron-intron | ENST00000509094 | ENST00000560432 | FAM13A | chr4 | 89698566 | + | IGF1R | chr15 | 99276714 | + |
| intron-intron | ENST00000515600 | ENST00000268035 | FAM13A | chr4 | 89698566 | + | IGF1R | chr15 | 99276714 | + |
| intron-intron | ENST00000515600 | ENST00000558762 | FAM13A | chr4 | 89698566 | + | IGF1R | chr15 | 99276714 | + |
| intron-intron | ENST00000515600 | ENST00000560432 | FAM13A | chr4 | 89698566 | + | IGF1R | chr15 | 99276714 | + |
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FusionProtFeatures for FAM13A_IGF1R |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| FAM13A | IGF1R |
| Receptor tyrosine kinase which mediates actions ofinsulin-like growth factor 1 (IGF1). Binds IGF1 with high affinityand IGF2 and insulin (INS) with a lower affinity. The activatedIGF1R is involved in cell growth and survival control. IGF1R iscrucial for tumor transformation and survival of malignant cell.Ligand binding activates the receptor kinase, leading to receptorautophosphorylation, and tyrosines phosphorylation of multiplesubstrates, that function as signaling adapter proteins including,the insulin-receptor substrates (IRS1/2), Shc and 14-3-3 proteins.Phosphorylation of IRSs proteins lead to the activation of twomain signaling pathways: the PI3K-AKT/PKB pathway and the Ras-MAPKpathway. The result of activating the MAPK pathway is increasedcellular proliferation, whereas activating the PI3K pathwayinhibits apoptosis and stimulates protein synthesis.Phosphorylated IRS1 can activate the 85 kDa regulatory subunit ofPI3K (PIK3R1), leading to activation of several downstreamsubstrates, including protein AKT/PKB. AKT phosphorylation, inturn, enhances protein synthesis through mTOR activation andtriggers the antiapoptotic effects of IGFIR throughphosphorylation and inactivation of BAD. In parallel to PI3K-driven signaling, recruitment of Grb2/SOS by phosphorylated IRS1or Shc leads to recruitment of Ras and activation of the ras-MAPKpathway. In addition to these two main signaling pathways IGF1Rsignals also through the Janus kinase/signal transducer andactivator of transcription pathway (JAK/STAT). Phosphorylation ofJAK proteins can lead to phosphorylation/activation of signaltransducers and activators of transcription (STAT) proteins. Inparticular activation of STAT3, may be essential for thetransforming activity of IGF1R. The JAK/STAT pathway activatesgene transcription and may be responsible for the transformingactivity. JNK kinases can also be activated by the IGF1R. IGF1exerts inhibiting activities on JNK activation via phosphorylationand inhibition of MAP3K5/ASK1, which is able to directly associatewith the IGF1R. When present in a hybrid receptor with INSR, binds IGF1.PubMed:12138094 shows that hybrid receptors composed of IGF1R andINSR isoform Long are activated with a high affinity by IGF1, withlow affinity by IGF2 and not significantly activated by insulin,and that hybrid receptors composed of IGF1R and INSR isoform Shortare activated by IGF1, IGF2 and insulin. In contrast,PubMed:16831875 shows that hybrid receptors composed of IGF1R andINSR isoform Long and hybrid receptors composed of IGF1R and INSRisoform Short have similar binding characteristics, both bind IGF1and have a low affinity for insulin. |
| 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 FAM13A_IGF1R |
| 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 FAM13A_IGF1R |
| 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 FAM13A_IGF1R |
| 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 | IGF1R | P08069 | DB00046 | Insulin Lispro | Insulin-like growth factor 1 receptor | biotech | approved |
| Tgene | IGF1R | P08069 | DB00047 | Insulin Glargine | Insulin-like growth factor 1 receptor | biotech | approved |
| Tgene | IGF1R | P08069 | DB00071 | Insulin Pork | Insulin-like growth factor 1 receptor | biotech | approved |
| Tgene | IGF1R | P08069 | DB00030 | Insulin Human | Insulin-like growth factor 1 receptor | biotech | approved|investigational |
| Tgene | IGF1R | P08069 | DB01277 | Mecasermin | Insulin-like growth factor 1 receptor | biotech | approved|investigational |
| Tgene | IGF1R | P08069 | DB09098 | Somatrem | Insulin-like growth factor 1 receptor | biotech | approved|investigational|withdrawn |
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RelatedDiseases for FAM13A_IGF1R |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | FAM13A | C0024117 | Chronic Obstructive Airway Disease | 1 | CTD_human |
| Hgene | FAM13A | C1800706 | Idiopathic Pulmonary Fibrosis | 1 | CTD_human;ORPHANET |
| Tgene | IGF1R | C1849157 | Insulin-Like Growth Factor I, Resistance To | 3 | CTD_human;ORPHANET;UNIPROT |
| Tgene | IGF1R | C0024115 | Lung diseases | 2 | CTD_human |
| Tgene | IGF1R | C0235833 | Congenital diaphragmatic hernia | 2 | CTD_human |
| Tgene | IGF1R | C2239176 | Liver carcinoma | 2 | CTD_human |
| Tgene | IGF1R | C0002395 | Alzheimer's Disease | 1 | CTD_human |
| Tgene | IGF1R | C0007621 | Neoplastic Cell Transformation | 1 | CTD_human |
| Tgene | IGF1R | C0014170 | Endometrial Neoplasms | 1 | CTD_human |
| Tgene | IGF1R | C0015934 | Fetal Growth Retardation | 1 | CTD_human;HPO |
| Tgene | IGF1R | C0018273 | Growth Disorders | 1 | CTD_human |
| Tgene | IGF1R | C0030567 | Parkinson Disease | 1 | CTD_human |
| Tgene | IGF1R | C0031117 | Peripheral Neuropathy | 1 | CTD_human |
| Tgene | IGF1R | C0035229 | Respiratory Insufficiency | 1 | CTD_human |
| Tgene | IGF1R | C0037286 | Skin Neoplasms | 1 | CTD_human |
| Tgene | IGF1R | C0206686 | Adrenocortical carcinoma | 1 | CTD_human |
| Tgene | IGF1R | C0752347 | Lewy Body Disease | 1 | CTD_human |
| Tgene | IGF1R | C1458155 | Mammary Neoplasms | 1 | CTD_human |
| Tgene | IGF1R | C3495559 | Juvenile arthritis | 1 | CTD_human |
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