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 | Fusion Gene Summary |
| Fusion Gene ORF analysis |
| Fusion Genomic Features |
| Fusion Protein Features |
| Fusion Gene Sequence |
| Fusion Gene PPI analysis |
| Related Drugs |
| Related Diseases |
Fusion gene:CTTN-INPPL1 (FusionGDB2 ID:20562) |
Fusion Gene Summary for CTTN-INPPL1 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: CTTN-INPPL1 | Fusion gene ID: 20562 | Hgene | Tgene | Gene symbol | CTTN | INPPL1 | Gene ID | 2017 | 3636 |
| Gene name | cortactin | inositol polyphosphate phosphatase like 1 | |
| Synonyms | EMS1 | OPSMD|SHIP2 | |
| Cytomap | 11q13.3 | 11q13.4 | |
| Type of gene | protein-coding | protein-coding | |
| Description | src substrate cortactin1110020L01Rikamplaxinems1 sequence (mammary tumor and squamous cell carcinoma-associated (p80/85 src substrate)epididymis secretory sperm binding proteinoncogene EMS1 | phosphatidylinositol 3,4,5-trisphosphate 5-phosphatase 251C proteinINPPL-1SH2 domain-containing inositol-5'-phosphatase 2SHIP-2protein 51C | |
| Modification date | 20200327 | 20200313 | |
| UniProtAcc | Q14247 | O15357 | |
| Ensembl transtripts involved in fusion gene | ENST00000346329, ENST00000301843, ENST00000527622, ENST00000376561, ENST00000538675, | ENST00000298229, ENST00000541756, ENST00000538751, | |
| Fusion gene scores | * DoF score | 35 X 27 X 11=10395 | 3 X 6 X 2=36 |
| # samples | 43 | 5 | |
| ** MAII score | log2(43/10395*10)=-4.59540928815627 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(5/36*10)=0.473931188332412 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | |
| Context | PubMed: CTTN [Title/Abstract] AND INPPL1 [Title/Abstract] AND fusion [Title/Abstract] | ||
| Most frequent breakpoint | CTTN(70279907)-INPPL1(71943775), # samples:2 | ||
| Anticipated loss of major functional domain due to fusion event. | |||
| * 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 breakpoints across CTTN (5'-gene) * Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
| Fusion gene breakpoints across INPPL1 (3'-gene) * Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
| 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 | BRCA | TCGA-PE-A5DC-01A | CTTN | chr11 | 70279907 | + | INPPL1 | chr11 | 71943775 | + |
| ChimerDB4 | BRCA | TCGA-PE-A5DC-01A | CTTN | chr11 | 70279907 | + | INPPL1 | chr11 | 71943775 | + |
| ChimerDB4 | BRCA | TCGA-PE-A5DC-01A | CTTN | chr11 | 70279906 | + | INPPL1 | chr11 | 71943774 | + |
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Fusion Gene ORF analysis for CTTN-INPPL1 |
| 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-3CDS | ENST00000346329 | ENST00000298229 | CTTN | chr11 | 70279907 | + | INPPL1 | chr11 | 71943775 | + |
| intron-3CDS | ENST00000346329 | ENST00000541756 | CTTN | chr11 | 70279907 | + | INPPL1 | chr11 | 71943775 | + |
| intron-3CDS | ENST00000346329 | ENST00000538751 | CTTN | chr11 | 70279907 | + | INPPL1 | chr11 | 71943775 | + |
| intron-3CDS | ENST00000301843 | ENST00000298229 | CTTN | chr11 | 70279907 | + | INPPL1 | chr11 | 71943775 | + |
| intron-3CDS | ENST00000301843 | ENST00000541756 | CTTN | chr11 | 70279907 | + | INPPL1 | chr11 | 71943775 | + |
| intron-3CDS | ENST00000301843 | ENST00000538751 | CTTN | chr11 | 70279907 | + | INPPL1 | chr11 | 71943775 | + |
| intron-3CDS | ENST00000527622 | ENST00000298229 | CTTN | chr11 | 70279907 | + | INPPL1 | chr11 | 71943775 | + |
| intron-3CDS | ENST00000527622 | ENST00000541756 | CTTN | chr11 | 70279907 | + | INPPL1 | chr11 | 71943775 | + |
| intron-3CDS | ENST00000527622 | ENST00000538751 | CTTN | chr11 | 70279907 | + | INPPL1 | chr11 | 71943775 | + |
| intron-3CDS | ENST00000376561 | ENST00000298229 | CTTN | chr11 | 70279907 | + | INPPL1 | chr11 | 71943775 | + |
| intron-3CDS | ENST00000376561 | ENST00000541756 | CTTN | chr11 | 70279907 | + | INPPL1 | chr11 | 71943775 | + |
| intron-3CDS | ENST00000376561 | ENST00000538751 | CTTN | chr11 | 70279907 | + | INPPL1 | chr11 | 71943775 | + |
| intron-3CDS | ENST00000538675 | ENST00000298229 | CTTN | chr11 | 70279907 | + | INPPL1 | chr11 | 71943775 | + |
| intron-3CDS | ENST00000538675 | ENST00000541756 | CTTN | chr11 | 70279907 | + | INPPL1 | chr11 | 71943775 | + |
| intron-3CDS | ENST00000538675 | ENST00000538751 | CTTN | chr11 | 70279907 | + | INPPL1 | chr11 | 71943775 | + |
| intron-3CDS | ENST00000346329 | ENST00000298229 | CTTN | chr11 | 70279906 | + | INPPL1 | chr11 | 71943774 | + |
| intron-3CDS | ENST00000346329 | ENST00000541756 | CTTN | chr11 | 70279906 | + | INPPL1 | chr11 | 71943774 | + |
| intron-3CDS | ENST00000346329 | ENST00000538751 | CTTN | chr11 | 70279906 | + | INPPL1 | chr11 | 71943774 | + |
| intron-3CDS | ENST00000301843 | ENST00000298229 | CTTN | chr11 | 70279906 | + | INPPL1 | chr11 | 71943774 | + |
| intron-3CDS | ENST00000301843 | ENST00000541756 | CTTN | chr11 | 70279906 | + | INPPL1 | chr11 | 71943774 | + |
| intron-3CDS | ENST00000301843 | ENST00000538751 | CTTN | chr11 | 70279906 | + | INPPL1 | chr11 | 71943774 | + |
| intron-3CDS | ENST00000527622 | ENST00000298229 | CTTN | chr11 | 70279906 | + | INPPL1 | chr11 | 71943774 | + |
| intron-3CDS | ENST00000527622 | ENST00000541756 | CTTN | chr11 | 70279906 | + | INPPL1 | chr11 | 71943774 | + |
| intron-3CDS | ENST00000527622 | ENST00000538751 | CTTN | chr11 | 70279906 | + | INPPL1 | chr11 | 71943774 | + |
| intron-3CDS | ENST00000376561 | ENST00000298229 | CTTN | chr11 | 70279906 | + | INPPL1 | chr11 | 71943774 | + |
| intron-3CDS | ENST00000376561 | ENST00000541756 | CTTN | chr11 | 70279906 | + | INPPL1 | chr11 | 71943774 | + |
| intron-3CDS | ENST00000376561 | ENST00000538751 | CTTN | chr11 | 70279906 | + | INPPL1 | chr11 | 71943774 | + |
| intron-3CDS | ENST00000538675 | ENST00000298229 | CTTN | chr11 | 70279906 | + | INPPL1 | chr11 | 71943774 | + |
| intron-3CDS | ENST00000538675 | ENST00000541756 | CTTN | chr11 | 70279906 | + | INPPL1 | chr11 | 71943774 | + |
| intron-3CDS | ENST00000538675 | ENST00000538751 | CTTN | chr11 | 70279906 | + | INPPL1 | chr11 | 71943774 | + |
| ORFfinder result based on the fusion transcript sequence of in-frame fusion genes. |
| 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) |
| 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 |
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Fusion Genomic Features for CTTN-INPPL1 |
| FusionAI prediction of the potential fusion gene breakpoint based on the pre-mature RNA sequence context (+/- 5kb of individual partner genes, total 20kb length sequence). FusionAI is a fusion gene breakpoint classifier based on convolutional neural network by comparing the fusion positive and negative sequence context of ~ 20K fusion gene data. From here, we can have the relative potentency of the 20K genomic sequence how individual sequnce will be likely used as the gene fusion breakpoints. |
| Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | 1-p | p (fusion gene breakpoint) |
| Distribution of 44 human genomic features loci across 20kb length fusion breakpoint regions. We integrated a total of 44 different types of human genomic feature loci information across five big categories including virus integration sites, repeats, structural variants, chromatin states, and gene expression regulation. More details are in help page. |
| Distribution of 44 human genomic features loci across 20kb length fusion breakpoint regions that are ovelapped with the top 1% feature importance score regions. More details are in help page. |
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Fusion Protein Features for CTTN-INPPL1 |
| Go to FGviewer for the breakpoints of :-: - FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels. |
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| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| CTTN | INPPL1 |
| FUNCTION: Contributes to the organization of the actin cytoskeleton and cell shape (PubMed:21296879). Plays a role in the formation of lamellipodia and in cell migration. Plays a role in the regulation of neuron morphology, axon growth and formation of neuronal growth cones (By similarity). Through its interaction with CTTNBP2, involved in the regulation of neuronal spine density (By similarity). Plays a role in the invasiveness of cancer cells, and the formation of metastases (PubMed:16636290). Plays a role in focal adhesion assembly and turnover (By similarity). In complex with ABL1 and MYLK regulates cortical actin-based cytoskeletal rearrangement critical to sphingosine 1-phosphate (S1P)-mediated endothelial cell (EC) barrier enhancement (PubMed:20861316). Plays a role in intracellular protein transport and endocytosis, and in modulating the levels of potassium channels present at the cell membrane (PubMed:17959782). Plays a role in receptor-mediated endocytosis via clathrin-coated pits (By similarity). Required for stabilization of KCNH1 channels at the cell membrane (PubMed:23144454). {ECO:0000250|UniProtKB:Q60598, ECO:0000250|UniProtKB:Q66HL2, ECO:0000269|PubMed:16636290, ECO:0000269|PubMed:17959782, ECO:0000269|PubMed:21296879, ECO:0000269|PubMed:23144454}. | FUNCTION: Phosphatidylinositol (PtdIns) phosphatase that specifically hydrolyzes the 5-phosphate of phosphatidylinositol-3,4,5-trisphosphate (PtdIns(3,4,5)P3) to produce PtdIns(3,4)P2, thereby negatively regulating the PI3K (phosphoinositide 3-kinase) pathways. Plays a central role in regulation of PI3K-dependent insulin signaling, although the precise molecular mechanisms and signaling pathways remain unclear. While overexpression reduces both insulin-stimulated MAP kinase and Akt activation, its absence does not affect insulin signaling or GLUT4 trafficking. Confers resistance to dietary obesity. May act by regulating AKT2, but not AKT1, phosphorylation at the plasma membrane. Part of a signaling pathway that regulates actin cytoskeleton remodeling. Required for the maintenance and dynamic remodeling of actin structures as well as in endocytosis, having a major impact on ligand-induced EGFR internalization and degradation. Participates in regulation of cortical and submembraneous actin by hydrolyzing PtdIns(3,4,5)P3 thereby regulating membrane ruffling (PubMed:21624956). Regulates cell adhesion and cell spreading. Required for HGF-mediated lamellipodium formation, cell scattering and spreading. Acts as a negative regulator of EPHA2 receptor endocytosis by inhibiting via PI3K-dependent Rac1 activation. Acts as a regulator of neuritogenesis by regulating PtdIns(3,4,5)P3 level and is required to form an initial protrusive pattern, and later, maintain proper neurite outgrowth. Acts as a negative regulator of the FC-gamma-RIIA receptor (FCGR2A). Mediates signaling from the FC-gamma-RIIB receptor (FCGR2B), playing a central role in terminating signal transduction from activating immune/hematopoietic cell receptor systems. Involved in EGF signaling pathway. Upon stimulation by EGF, it is recruited by EGFR and dephosphorylates PtdIns(3,4,5)P3. Plays a negative role in regulating the PI3K-PKB pathway, possibly by inhibiting PKB activity. Down-regulates Fc-gamma-R-mediated phagocytosis in macrophages independently of INPP5D/SHIP1. In macrophages, down-regulates NF-kappa-B-dependent gene transcription by regulating macrophage colony-stimulating factor (M-CSF)-induced signaling. May also hydrolyze PtdIns(1,3,4,5)P4, and could thus affect the levels of the higher inositol polyphosphates like InsP6. Involved in endochondral ossification. {ECO:0000269|PubMed:11349134, ECO:0000269|PubMed:11739414, ECO:0000269|PubMed:12235291, ECO:0000269|PubMed:12676785, ECO:0000269|PubMed:12690104, ECO:0000269|PubMed:15668240, ECO:0000269|PubMed:16824732, ECO:0000269|PubMed:17135240, ECO:0000269|PubMed:21624956, ECO:0000269|PubMed:23273569, ECO:0000269|PubMed:9660833}. |
| 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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Fusion Gene Sequence for CTTN-INPPL1 |
| For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences. To have fusion amino acid sequence, we ran ORFfinder and chose the longest ORF among the all predicted ones. |
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Fusion Gene PPI Analysis for CTTN-INPPL1 |
| 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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Related Drugs for CTTN-INPPL1 |
| Drugs targeting genes involved in this fusion gene. (DrugBank Version 5.1.8 2021-05-08) |
| Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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Related Diseases for CTTN-INPPL1 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | CTTN | C0007137 | Squamous cell carcinoma | 1 | CTD_human |
| Hgene | CTTN | C0023531 | Leukoplakia | 1 | CTD_human |
| Hgene | CTTN | C0087031 | Juvenile-Onset Still Disease | 1 | CTD_human |
| Hgene | CTTN | C1704317 | Leukokeratosis | 1 | CTD_human |
| Hgene | CTTN | C3495559 | Juvenile arthritis | 1 | CTD_human |
| Hgene | CTTN | C3714758 | Juvenile psoriatic arthritis | 1 | CTD_human |
| Hgene | CTTN | C4552091 | Polyarthritis, Juvenile, Rheumatoid Factor Negative | 1 | CTD_human |
| Hgene | CTTN | C4704862 | Polyarthritis, Juvenile, Rheumatoid Factor Positive | 1 | CTD_human |
| Tgene | INPPL1 | C0432219 | Opsismodysplasia | 3 | CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT |
| Tgene | INPPL1 | C0011860 | Diabetes Mellitus, Non-Insulin-Dependent | 2 | CTD_human |
| Tgene | INPPL1 | C0020538 | Hypertensive disease | 1 | CTD_human |
| Tgene | INPPL1 | C0023893 | Liver Cirrhosis, Experimental | 1 | CTD_human |
| Tgene | INPPL1 | C0432194 | Schneckenbecken dysplasia | 1 | ORPHANET |
| Tgene | INPPL1 | C0524620 | Metabolic Syndrome X | 1 | CTD_human |
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