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Fusion gene ID: 11846 |
FusionGeneSummary for EPS15L1_AKAP8 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: EPS15L1_AKAP8 | Fusion gene ID: 11846 | Hgene | Tgene | Gene symbol | EPS15L1 | AKAP8 | Gene ID | 58513 | 10270 |
| Gene name | epidermal growth factor receptor pathway substrate 15 like 1 | A-kinase anchoring protein 8 | |
| Synonyms | EPS15R | AKAP 95|AKAP-8|AKAP-95|AKAP95 | |
| Cytomap | 19p13.11 | 19p13.12 | |
| Type of gene | protein-coding | protein-coding | |
| Description | epidermal growth factor receptor substrate 15-like 1epidermal growth factor receptor substrate EPS15Reps15-related protein | A-kinase anchor protein 8A kinase (PRKA) anchor protein 8A-kinase anchor protein, 95kDa | |
| Modification date | 20180522 | 20180523 | |
| UniProtAcc | Q9UBC2 | O43823 | |
| Ensembl transtripts involved in fusion gene | ENST00000455140, ENST00000248070, ENST00000535753, ENST00000594975, ENST00000602009, ENST00000597937, | ENST00000269701, | |
| Fusion gene scores | * DoF score | 15 X 11 X 10=1650 | 3 X 3 X 3=27 |
| # samples | 18 | 3 | |
| ** MAII score | log2(18/1650*10)=-3.1963972128035 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(3/27*10)=0.15200309344505 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | |
| Context | PubMed: EPS15L1 [Title/Abstract] AND AKAP8 [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 | STAD | TCGA-CG-4449-01A | EPS15L1 | chr19 | 16539513 | - | AKAP8 | chr19 | 15485446 | - |
| * 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 |
| Frame-shift | ENST00000455140 | ENST00000269701 | EPS15L1 | chr19 | 16539513 | - | AKAP8 | chr19 | 15485446 | - |
| Frame-shift | ENST00000248070 | ENST00000269701 | EPS15L1 | chr19 | 16539513 | - | AKAP8 | chr19 | 15485446 | - |
| Frame-shift | ENST00000535753 | ENST00000269701 | EPS15L1 | chr19 | 16539513 | - | AKAP8 | chr19 | 15485446 | - |
| Frame-shift | ENST00000594975 | ENST00000269701 | EPS15L1 | chr19 | 16539513 | - | AKAP8 | chr19 | 15485446 | - |
| Frame-shift | ENST00000602009 | ENST00000269701 | EPS15L1 | chr19 | 16539513 | - | AKAP8 | chr19 | 15485446 | - |
| Frame-shift | ENST00000597937 | ENST00000269701 | EPS15L1 | chr19 | 16539513 | - | AKAP8 | chr19 | 15485446 | - |
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FusionProtFeatures for EPS15L1_AKAP8 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| EPS15L1 | AKAP8 |
| Seems to be a constitutive component of clathrin-coatedpits that is required for receptor-mediated endocytosis. Involvedin endocytosis of integrin beta-1 (ITGB1) and transferrin receptor(TFR); internalization of ITGB1 as DAB2-dependent cargo but notTFR seems to require association with DAB2.{ECO:0000269|PubMed:22648170, ECO:0000269|PubMed:9407958}. | Anchoring protein that mediates the subcellularcompartmentation of cAMP-dependent protein kinase (PKA type II)(PubMed:9473338). Acts as an anchor for a PKA-signaling complexonto mitotic chromosomes, which is required for maintenance ofchromosomes in a condensed form throughout mitosis. Recruitscondensin complex subunit NCAPD2 to chromosomes required forchromatin condensation; the function appears to be independentfrom PKA-anchoring (PubMed:10601332, PubMed:10791967,PubMed:11964380). May help to deliver cyclin D/E to CDK4 tofacilitate cell cycle progression (PubMed:14641107). Required forcell cycle G2/M transition and histone deacetylation duringmitosis. In mitotic cells recruits HDAC3 to the vicinity ofchromatin leading to deacetylation and subsequent phosphorylationat 'Ser-10' of histone H3; in this function may act redundantlywith AKAP8L (PubMed:16980585). Involved in nuclear retention ofRPS6KA1 upon ERK activation thus inducing cell proliferation(PubMed:22130794). May be involved in regulation of DNAreplication by acting as scaffold for MCM2 (PubMed:12740381).Enhances HMT activity of the KMT2 family MLL4/WBP7 complex and isinvolved in transcriptional regulation. In a teratocarcinoma cellline is involved in retinoic acid-mediated induction ofdevelopmental genes implicating H3 'Lys-4' methylation(PubMed:23995757). May be involved in recruitment of active CASP3to the nucleus in apoptotic cells (PubMed:16227597). May act as acarrier protein of GJA1 for its transport to the nucleus(PubMed:26880274). Seems to involved in modulation of rDNAtranscription. Preferentially binds GC-rich DNA in vitro andassociates to GC-rich ribosomal RNA promoters (PubMed:26683827).Involved in modulation of Toll-like receptor signaling. Requiredfor the cAMP-dependent suppression of TNF-alpha in early stages ofLPS-induced macrophage activation; the function probablyimplicates targeting of PKA to NFKB1 (By similarity).{ECO:0000250|UniProtKB:Q63014, ECO:0000250|UniProtKB:Q9DBR0,ECO:0000269|PubMed:10601332, ECO:0000269|PubMed:10791967,ECO:0000269|PubMed:11964380, ECO:0000269|PubMed:16980585,ECO:0000269|PubMed:22130794, ECO:0000269|PubMed:26683827,ECO:0000269|PubMed:26880274, ECO:0000305|PubMed:14641107,ECO:0000305|PubMed:9473338}. |
| 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 EPS15L1_AKAP8 |
| 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 EPS15L1_AKAP8 |
| 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 |
| EPS15L1 | AGFG1, STON2, EPN1, ITSN1, ITSN2, UBQLN1, GRB2, BIRC6, GBF1, NCAPG, PRPF4, ZZEF1, AP2M1, GNG5, TRAPPC2B, MOV10, NXF1, AGFG2, SPC25, NTRK1, MED4, XPO1, PLK1, KIAA1107, CDH1, AP2S1, RUNDC3A, LSR, FCHO1, NCKIPSD, CDR2, AURKA, UBC, DCAF7, USP15, SPAG9, MCM2, MCM4, MCM6, IVNS1ABP, GTF3C4, SMC1A, GAPVD1, ANK3, SBNO1, SMC3, CDK11A, SOX4, HSF1, TRIM25, TXNIP | AKAP8 | MCM2, CCND3, CCND1, CCND2, PRKAR2A, AMY1A, DDX5, TADA2A, MYC, ELAVL1, HNRNPA1, CUL3, COPS5, CAND1, LRRK2, ESR1, BARD1, CSNK2A1, HDAC11, HIPK4, RPA3, RPA2, RPA1, NXF1, CCDC8, EZH2, RNF2, BMI1, ILK, CLEC11A, FBXW11, EEF1D, EEF1B2, RUVBL1, RUVBL2, TUBB4B, EWSR1, MATR3, FOXA3, FOXC2, FOXE1, FOXG1, FOXJ2, CRY2, FOXP3, FOXS1, CDC5L, C11orf30, BRCA1, TES |
| - 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 EPS15L1_AKAP8 |
| 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 EPS15L1_AKAP8 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Tgene | AKAP8 | C0041696 | Unipolar Depression | 1 | PSYGENET |
| Tgene | AKAP8 | C1269683 | Major Depressive Disorder | 1 | PSYGENET |
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