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Fusion gene ID: 19871 |
FusionGeneSummary for LMBR1_EPHA1 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: LMBR1_EPHA1 | Fusion gene ID: 19871 | Hgene | Tgene | Gene symbol | LMBR1 | EPHA1 | Gene ID | 64327 | 2041 |
| Gene name | limb development membrane protein 1 | EPH receptor A1 | |
| Synonyms | ACHP|C7orf2|DIF14|LSS|PPD2|THYP|TPT|ZRS | EPH|EPHT|EPHT1 | |
| Cytomap | 7q36.3 | 7q34-q35 | |
| Type of gene | protein-coding | protein-coding | |
| Description | limb region 1 protein homologdifferentiation-related gene 14 proteinlimb region 1 homolog | ephrin type-A receptor 1eph tyrosine kinase 1erythropoietin-producing hepatoma amplified sequenceerythropoietin-producing hepatoma receptorhEpha1oncogene EPHsoluble EPHA1 variant 1soluble EPHA1 variant 2tyrosine-protein kinase receptor EPH | |
| Modification date | 20180519 | 20180523 | |
| UniProtAcc | Q8WVP7 | P21709 | |
| Ensembl transtripts involved in fusion gene | ENST00000353442, ENST00000359422, ENST00000354505, ENST00000540390, ENST00000430825, | ENST00000458129, ENST00000275815, | |
| Fusion gene scores | * DoF score | 7 X 5 X 7=245 | 4 X 5 X 4=80 |
| # samples | 10 | 4 | |
| ** MAII score | log2(10/245*10)=-1.29278174922785 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(4/80*10)=-1 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: LMBR1 [Title/Abstract] AND EPHA1 [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 | EPHA1 | GO:0001954 | positive regulation of cell-matrix adhesion | 19118217 |
| Tgene | EPHA1 | GO:0006469 | negative regulation of protein kinase activity | 19118217 |
| Tgene | EPHA1 | GO:0007166 | cell surface receptor signaling pathway | 19118217 |
| Tgene | EPHA1 | GO:0018108 | peptidyl-tyrosine phosphorylation | 12775584 |
| Tgene | EPHA1 | GO:0030336 | negative regulation of cell migration | 19118217 |
| Tgene | EPHA1 | GO:0034446 | substrate adhesion-dependent cell spreading | 19118217 |
| Tgene | EPHA1 | GO:0043087 | regulation of GTPase activity | 19118217 |
| Tgene | EPHA1 | GO:0046777 | protein autophosphorylation | 19118217 |
| Tgene | EPHA1 | GO:0090630 | activation of GTPase activity | 19118217 |
| 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 | BRCA | TCGA-AR-A24Q-01A | LMBR1 | chr7 | 156589083 | - | EPHA1 | chr7 | 143098698 | - |
| TCGA | LD | BRCA | TCGA-AR-A24Q-01A | LMBR1 | chr7 | 156589084 | - | EPHA1 | chr7 | 143098699 | - |
| * 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 |
| 5CDS-intron | ENST00000353442 | ENST00000458129 | LMBR1 | chr7 | 156589083 | - | EPHA1 | chr7 | 143098698 | - |
| 5CDS-intron | ENST00000353442 | ENST00000275815 | LMBR1 | chr7 | 156589083 | - | EPHA1 | chr7 | 143098698 | - |
| 5UTR-intron | ENST00000359422 | ENST00000458129 | LMBR1 | chr7 | 156589083 | - | EPHA1 | chr7 | 143098698 | - |
| 5UTR-intron | ENST00000359422 | ENST00000275815 | LMBR1 | chr7 | 156589083 | - | EPHA1 | chr7 | 143098698 | - |
| 5CDS-intron | ENST00000354505 | ENST00000458129 | LMBR1 | chr7 | 156589083 | - | EPHA1 | chr7 | 143098698 | - |
| 5CDS-intron | ENST00000354505 | ENST00000275815 | LMBR1 | chr7 | 156589083 | - | EPHA1 | chr7 | 143098698 | - |
| 5CDS-intron | ENST00000540390 | ENST00000458129 | LMBR1 | chr7 | 156589083 | - | EPHA1 | chr7 | 143098698 | - |
| 5CDS-intron | ENST00000540390 | ENST00000275815 | LMBR1 | chr7 | 156589083 | - | EPHA1 | chr7 | 143098698 | - |
| intron-intron | ENST00000430825 | ENST00000458129 | LMBR1 | chr7 | 156589083 | - | EPHA1 | chr7 | 143098698 | - |
| intron-intron | ENST00000430825 | ENST00000275815 | LMBR1 | chr7 | 156589083 | - | EPHA1 | chr7 | 143098698 | - |
| 5CDS-intron | ENST00000353442 | ENST00000458129 | LMBR1 | chr7 | 156589084 | - | EPHA1 | chr7 | 143098699 | - |
| 5CDS-intron | ENST00000353442 | ENST00000275815 | LMBR1 | chr7 | 156589084 | - | EPHA1 | chr7 | 143098699 | - |
| 5UTR-intron | ENST00000359422 | ENST00000458129 | LMBR1 | chr7 | 156589084 | - | EPHA1 | chr7 | 143098699 | - |
| 5UTR-intron | ENST00000359422 | ENST00000275815 | LMBR1 | chr7 | 156589084 | - | EPHA1 | chr7 | 143098699 | - |
| 5CDS-intron | ENST00000354505 | ENST00000458129 | LMBR1 | chr7 | 156589084 | - | EPHA1 | chr7 | 143098699 | - |
| 5CDS-intron | ENST00000354505 | ENST00000275815 | LMBR1 | chr7 | 156589084 | - | EPHA1 | chr7 | 143098699 | - |
| 5CDS-intron | ENST00000540390 | ENST00000458129 | LMBR1 | chr7 | 156589084 | - | EPHA1 | chr7 | 143098699 | - |
| 5CDS-intron | ENST00000540390 | ENST00000275815 | LMBR1 | chr7 | 156589084 | - | EPHA1 | chr7 | 143098699 | - |
| intron-intron | ENST00000430825 | ENST00000458129 | LMBR1 | chr7 | 156589084 | - | EPHA1 | chr7 | 143098699 | - |
| intron-intron | ENST00000430825 | ENST00000275815 | LMBR1 | chr7 | 156589084 | - | EPHA1 | chr7 | 143098699 | - |
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FusionProtFeatures for LMBR1_EPHA1 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| LMBR1 | EPHA1 |
| Putative membrane receptor. | 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. Binds with a low affinity EFNA3 and EFNA4 and with ahigh affinity to EFNA1 which most probably constitutes itscognate/functional ligand. Upon activation by EFNA1 induces cellattachment to the extracellular matrix inhibiting cell spreadingand motility through regulation of ILK and downstream RHOA andRAC. Plays also a role in angiogenesis and regulates cellproliferation. May play a role in apoptosis.{ECO:0000269|PubMed:17634955, ECO:0000269|PubMed:19118217,ECO:0000269|PubMed:20043122}. |
| 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 LMBR1_EPHA1 |
| 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 LMBR1_EPHA1 |
| 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 |
| LMBR1 | EFNB2, ASGR2, GPR52, LPAR6, P2RY12, LYPD3, EDNRA, GPR84, PTGER3, ZACN, LPAR1, TMEM155, LYPD6, EGFR, DPEP1, IPPK, GRPR, GPR21, CLEC2D, LRFN4, LRRC8B, STS, HTR3A, PCDHAC2, GPR161, VNN2, UXS1, S1PR1, SLC22A9, ST3GAL1, TNFRSF1A, C3AR1, FRMD3, YIPF3, TACR1, FAM189B, FPR2, LMNA | EPHA1 | ALK, HSP90AA1, MAP3K1, SMURF1, SMG1, KIAA1468, USP34, SMG9, FAM114A2, DYNC2H1, DIAPH3, DFNA5, KIF14, WDR13, ARMC9, STK17B, NCAPH2, RRP1, XPO4, FAM73A, EXOC6B, STAG1, MTHFR, SLC39A11, SAAL1, LRBA, CKAP5, EIF2B3, CAND2, EIF2B5, NOP9, HEATR3, AARS2, SMG8, HOOK2, PEX19, GTPBP3, NUCB1, EIF2B4, DYM, PRKDC, TNPO2, EIF4G3, NCAPD3, EIF2B2, DYNC2LI1, PBXIP1, TBC1D9, EXOC7, RINT1, KNTC1, NF1, EXOC8, ELMO2, XPOT, SMC2, HIP1R, EXOC5, LTN1, AP3M1, NCAPG2, HAUS7, VPS16, ACOT9, CAMK1, IQCB1, GBF1, BTAF1, GPN3, OPA1, CTDSP2, PTPN11, DUSP14, TPTE, MTMR14, TRIM25 |
| - 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 LMBR1_EPHA1 |
| 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 LMBR1_EPHA1 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Tgene | EPHA1 | C0002395 | Alzheimer's Disease | 2 | CTD_human |
| Tgene | EPHA1 | C0009404 | Colorectal Neoplasms | 1 | CTD_human |
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