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Fusion gene ID: 38623 |
FusionGeneSummary for TMEM41A_EPHA2 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: TMEM41A_EPHA2 | Fusion gene ID: 38623 | Hgene | Tgene | Gene symbol | TMEM41A | EPHA2 | Gene ID | 90407 | 1969 |
| Gene name | transmembrane protein 41A | EPH receptor A2 | |
| Synonyms | 2900010K02Rik | ARCC2|CTPA|CTPP1|CTRCT6|ECK | |
| Cytomap | 3q27.2 | 1p36.13 | |
| Type of gene | protein-coding | protein-coding | |
| Description | transmembrane protein 41A | ephrin type-A receptor 2epithelial cell receptor protein tyrosine kinasesoluble EPHA2 variant 1tyrosine-protein kinase receptor ECK | |
| Modification date | 20180519 | 20180523 | |
| UniProtAcc | Q96HV5 | P29317 | |
| Ensembl transtripts involved in fusion gene | ENST00000475480, ENST00000421852, ENST00000296254, | ENST00000358432, ENST00000461614, | |
| Fusion gene scores | * DoF score | 2 X 2 X 2=8 | 4 X 4 X 4=64 |
| # samples | 2 | 4 | |
| ** MAII score | log2(2/8*10)=1.32192809488736 | log2(4/64*10)=-0.678071905112638 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: TMEM41A [Title/Abstract] AND EPHA2 [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 | EPHA2 | GO:0008630 | intrinsic apoptotic signaling pathway in response to DNA damage | 18339848 |
| Tgene | EPHA2 | GO:0033628 | regulation of cell adhesion mediated by integrin | 10655584 |
| Tgene | EPHA2 | GO:0043491 | protein kinase B signaling | 19573808 |
| Tgene | EPHA2 | GO:0048013 | ephrin receptor signaling pathway | 10655584|20861311 |
| Tgene | EPHA2 | GO:0051898 | negative regulation of protein kinase B signaling | 19573808 |
| 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 | LD | UCS | TCGA-N8-A4PN-01A | TMEM41A | chr3 | 185206733 | - | EPHA2 | chr1 | 16477458 | - |
| * 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-3CDS | ENST00000475480 | ENST00000358432 | TMEM41A | chr3 | 185206733 | - | EPHA2 | chr1 | 16477458 | - |
| intron-intron | ENST00000475480 | ENST00000461614 | TMEM41A | chr3 | 185206733 | - | EPHA2 | chr1 | 16477458 | - |
| intron-3CDS | ENST00000421852 | ENST00000358432 | TMEM41A | chr3 | 185206733 | - | EPHA2 | chr1 | 16477458 | - |
| intron-intron | ENST00000421852 | ENST00000461614 | TMEM41A | chr3 | 185206733 | - | EPHA2 | chr1 | 16477458 | - |
| intron-3CDS | ENST00000296254 | ENST00000358432 | TMEM41A | chr3 | 185206733 | - | EPHA2 | chr1 | 16477458 | - |
| intron-intron | ENST00000296254 | ENST00000461614 | TMEM41A | chr3 | 185206733 | - | EPHA2 | chr1 | 16477458 | - |
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FusionProtFeatures for TMEM41A_EPHA2 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| TMEM41A | EPHA2 |
| Receptor tyrosine kinase which binds promiscuouslymembrane-bound ephrin-A family ligands residing on adjacent cells,leading to contact-dependent bidirectional signaling intoneighboring cells. The signaling pathway downstream of thereceptor is referred to as forward signaling while the signalingpathway downstream of the ephrin ligand is referred to as reversesignaling. Activated by the ligand ephrin-A1/EFNA1 regulatesmigration, integrin-mediated adhesion, proliferation anddifferentiation of cells. Regulates cell adhesion anddifferentiation through DSG1/desmoglein-1 and inhibition of theERK1/ERK2 (MAPK3/MAPK1, respectively) signaling pathway. May alsoparticipate in UV radiation-induced apoptosis and have a ligand-independent stimulatory effect on chemotactic cell migration.During development, may function in distinctive aspects of patternformation and subsequently in development of several fetaltissues. Involved for instance in angiogenesis, in early hindbraindevelopment and epithelial proliferation and branchingmorphogenesis during mammary gland development. Engaged by theligand ephrin-A5/EFNA5 may regulate lens fiber cells shape andinteractions and be important for lens transparency developmentand maintenance. With ephrin-A2/EFNA2 may play a role in boneremodeling through regulation of osteoclastogenesis andosteoblastogenesis. {ECO:0000269|PubMed:10655584,ECO:0000269|PubMed:16236711, ECO:0000269|PubMed:18339848,ECO:0000269|PubMed:19573808, ECO:0000269|PubMed:20679435,ECO:0000269|PubMed:20861311, ECO:0000269|PubMed:23358419,ECO:0000269|PubMed:26158630, ECO:0000269|PubMed:27385333}. (Microbial infection) Acts as a receptor for hepatitis Cvirus (HCV) in hepatocytes and facilitates its cell entry.Mediates HCV entry by promoting the formation of the CD81-CLDN1receptor complexes that are essential for HCV entry and byenhancing membrane fusion of cells expressing HCV envelopeglycoproteins. {ECO:0000269|PubMed:21516087}. |
| 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 TMEM41A_EPHA2 |
| 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 TMEM41A_EPHA2 |
| 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 |
| TMEM41A | CCDC155, NOTCH2NL, TCTN3, VIPR2, LMNA | EPHA2 | SLA, SHC1, GRB2, PIK3R1, PTK2, PTPN11, ACP1, ELAVL1, CBL, EPHA2, APP, EEF2, HSP90AA1, GATAD1, KPNA3, RBL1, NUDT9, ADRBK1, CDK17, PSME2, LSM7, ITGA3, ITGB1, ITGB3, ITGB5, ITGAV, CLTC, AP2M1, AP2B1, AP2A1, AP2S1, EPS15, UBE4A, EGFR, SLC25A41, TAS2R7, CCR1, TMEM185A, RD3, PIFO, NTRK1, TMEM17, TMEM216, FANCD2, SSR3, TGFBR1, ZBTB14, VPS4B, SCAMP3, HEXIM1, GOLIM4, NDUFA13, SMARCAD1, MRPS35, MICALL1, TSG101, CDH1, DUSP18, DUSP19, DUPD1, DUSP26, SDC1, CYP2S1, GJB7, LRRIQ1, NCSTN, NTRK3, MAS1, CIR1, SIGLECL1, TARDBP, MRAP2, PPM1L, ILKAP, PTPRR, PTPN7, DUSP14, STYX, TPTE, TPTE2, 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 TMEM41A_EPHA2 |
| 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 | EPHA2 | P29317 | DB08896 | Regorafenib | Ephrin type-A receptor 2 | small molecule | approved |
| Tgene | EPHA2 | P29317 | DB01254 | Dasatinib | Ephrin type-A receptor 2 | small molecule | approved|investigational |
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RelatedDiseases for TMEM41A_EPHA2 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Tgene | EPHA2 | C1861825 | CATARACT, POSTERIOR POLAR, 1 | 2 | UNIPROT |
| Tgene | EPHA2 | C0028326 | Noonan Syndrome | 1 | CTD_human |
| Tgene | EPHA2 | C0175704 | LEOPARD Syndrome | 1 | CTD_human |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
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