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Fusion gene ID: 11052 |
FusionGeneSummary for EFHD1_LEF1 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: EFHD1_LEF1 | Fusion gene ID: 11052 | Hgene | Tgene | Gene symbol | EFHD1 | LEF1 | Gene ID | 80303 | 51176 |
| Gene name | EF-hand domain family member D1 | lymphoid enhancer binding factor 1 | |
| Synonyms | MST133|MSTP133|PP3051|SWS2 | LEF-1|TCF10|TCF1ALPHA|TCF7L3 | |
| Cytomap | 2q37.1 | 4q25 | |
| Type of gene | protein-coding | protein-coding | |
| Description | EF-hand domain-containing protein D1EF-hand domain-containing protein 1swiprosin-2 | lymphoid enhancer-binding factor 1T cell-specific transcription factor 1-alphaTCF1-alpha | |
| Modification date | 20180519 | 20180527 | |
| UniProtAcc | Q9BUP0 | Q9UJU2 | |
| Ensembl transtripts involved in fusion gene | ENST00000409613, ENST00000264059, ENST00000409708, ENST00000410095, | ENST00000265165, ENST00000379951, ENST00000438313, ENST00000510624, ENST00000512172, ENST00000503879, | |
| Fusion gene scores | * DoF score | 5 X 5 X 2=50 | 2 X 2 X 2=8 |
| # samples | 6 | 2 | |
| ** MAII score | log2(6/50*10)=0.263034405833794 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | log2(2/8*10)=1.32192809488736 | |
| Context | PubMed: EFHD1 [Title/Abstract] AND LEF1 [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 | LEF1 | GO:0006366 | transcription by RNA polymerase II | 23001182 |
| Tgene | LEF1 | GO:0008284 | positive regulation of cell proliferation | 19351848 |
| Tgene | LEF1 | GO:0010628 | positive regulation of gene expression | 16344550 |
| Tgene | LEF1 | GO:0016055 | Wnt signaling pathway | 10644691 |
| Tgene | LEF1 | GO:0030854 | positive regulation of granulocyte differentiation | 19620402 |
| Tgene | LEF1 | GO:0032696 | negative regulation of interleukin-13 production | 18445004 |
| Tgene | LEF1 | GO:0032713 | negative regulation of interleukin-4 production | 18445004 |
| Tgene | LEF1 | GO:0032714 | negative regulation of interleukin-5 production | 18445004 |
| Tgene | LEF1 | GO:0043392 | negative regulation of DNA binding | 18445004 |
| Tgene | LEF1 | GO:0043923 | positive regulation by host of viral transcription | 7657162 |
| Tgene | LEF1 | GO:0045892 | negative regulation of transcription, DNA-templated | 18794125 |
| Tgene | LEF1 | GO:0045893 | positive regulation of transcription, DNA-templated | 7657162|10644691|17063141|19620402|20128911 |
| Tgene | LEF1 | GO:0045944 | positive regulation of transcription by RNA polymerase II | 11751639 |
| Tgene | LEF1 | GO:0060070 | canonical Wnt signaling pathway | 20123964 |
| Tgene | LEF1 | GO:0060326 | cell chemotaxis | 19576624 |
| Tgene | LEF1 | GO:0071353 | cellular response to interleukin-4 | 18579517 |
| Tgene | LEF1 | GO:0071899 | negative regulation of estrogen receptor binding | 18794125 |
| 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 | BE144130 | EFHD1 | chr2 | 233503439 | + | LEF1 | chr4 | 109084733 | + |
| * 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 | ENST00000409613 | ENST00000265165 | EFHD1 | chr2 | 233503439 | + | LEF1 | chr4 | 109084733 | + |
| intron-3CDS | ENST00000409613 | ENST00000379951 | EFHD1 | chr2 | 233503439 | + | LEF1 | chr4 | 109084733 | + |
| intron-3CDS | ENST00000409613 | ENST00000438313 | EFHD1 | chr2 | 233503439 | + | LEF1 | chr4 | 109084733 | + |
| intron-3CDS | ENST00000409613 | ENST00000510624 | EFHD1 | chr2 | 233503439 | + | LEF1 | chr4 | 109084733 | + |
| intron-3CDS | ENST00000409613 | ENST00000512172 | EFHD1 | chr2 | 233503439 | + | LEF1 | chr4 | 109084733 | + |
| intron-intron | ENST00000409613 | ENST00000503879 | EFHD1 | chr2 | 233503439 | + | LEF1 | chr4 | 109084733 | + |
| intron-3CDS | ENST00000264059 | ENST00000265165 | EFHD1 | chr2 | 233503439 | + | LEF1 | chr4 | 109084733 | + |
| intron-3CDS | ENST00000264059 | ENST00000379951 | EFHD1 | chr2 | 233503439 | + | LEF1 | chr4 | 109084733 | + |
| intron-3CDS | ENST00000264059 | ENST00000438313 | EFHD1 | chr2 | 233503439 | + | LEF1 | chr4 | 109084733 | + |
| intron-3CDS | ENST00000264059 | ENST00000510624 | EFHD1 | chr2 | 233503439 | + | LEF1 | chr4 | 109084733 | + |
| intron-3CDS | ENST00000264059 | ENST00000512172 | EFHD1 | chr2 | 233503439 | + | LEF1 | chr4 | 109084733 | + |
| intron-intron | ENST00000264059 | ENST00000503879 | EFHD1 | chr2 | 233503439 | + | LEF1 | chr4 | 109084733 | + |
| intron-3CDS | ENST00000409708 | ENST00000265165 | EFHD1 | chr2 | 233503439 | + | LEF1 | chr4 | 109084733 | + |
| intron-3CDS | ENST00000409708 | ENST00000379951 | EFHD1 | chr2 | 233503439 | + | LEF1 | chr4 | 109084733 | + |
| intron-3CDS | ENST00000409708 | ENST00000438313 | EFHD1 | chr2 | 233503439 | + | LEF1 | chr4 | 109084733 | + |
| intron-3CDS | ENST00000409708 | ENST00000510624 | EFHD1 | chr2 | 233503439 | + | LEF1 | chr4 | 109084733 | + |
| intron-3CDS | ENST00000409708 | ENST00000512172 | EFHD1 | chr2 | 233503439 | + | LEF1 | chr4 | 109084733 | + |
| intron-intron | ENST00000409708 | ENST00000503879 | EFHD1 | chr2 | 233503439 | + | LEF1 | chr4 | 109084733 | + |
| intron-3CDS | ENST00000410095 | ENST00000265165 | EFHD1 | chr2 | 233503439 | + | LEF1 | chr4 | 109084733 | + |
| intron-3CDS | ENST00000410095 | ENST00000379951 | EFHD1 | chr2 | 233503439 | + | LEF1 | chr4 | 109084733 | + |
| intron-3CDS | ENST00000410095 | ENST00000438313 | EFHD1 | chr2 | 233503439 | + | LEF1 | chr4 | 109084733 | + |
| intron-3CDS | ENST00000410095 | ENST00000510624 | EFHD1 | chr2 | 233503439 | + | LEF1 | chr4 | 109084733 | + |
| intron-3CDS | ENST00000410095 | ENST00000512172 | EFHD1 | chr2 | 233503439 | + | LEF1 | chr4 | 109084733 | + |
| intron-intron | ENST00000410095 | ENST00000503879 | EFHD1 | chr2 | 233503439 | + | LEF1 | chr4 | 109084733 | + |
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FusionProtFeatures for EFHD1_LEF1 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| EFHD1 | LEF1 |
| Acts as a calcium sensor for mitochondrial flash(mitoflash) activation, an event characterized by stochasticbursts of superoxide production (PubMed:26975899). May play a rolein neuronal differentiation (By similarity).{ECO:0000250|UniProtKB:Q9D4J1, ECO:0000269|PubMed:26975899}. | Participates in the Wnt signaling pathway. Activatestranscription of target genes in the presence of CTNNB1 and EP300.May play a role in hair cell differentiation and folliclemorphogenesis. TLE1, TLE2, TLE3 and TLE4 repress transactivationmediated by LEF1 and CTNNB1. Regulates T-cell receptor alphaenhancer function. Binds DNA in a sequence-specific manner. PIAGantagonizes both Wnt-dependent and Wnt-independent activation byLEF1 (By similarity). Isoform 3 lacks the CTNNB1 interactiondomain and may be an antagonist for Wnt signaling. Isoform 5transcriptionally activates the fibronectin promoter, binds to andrepresses transcription from the E-cadherin promoter in a CTNNB1-independent manner, and is involved in reducing cellularaggregation and increasing cell migration of pancreatic cancercells. Isoform 1 transcriptionally activates MYC and CCND1expression and enhances proliferation of pancreatic tumor cells.{ECO:0000250, ECO:0000269|PubMed:11266540,ECO:0000269|PubMed:19653274, ECO:0000269|PubMed:2010090}. |
| 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 EFHD1_LEF1 |
| 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 EFHD1_LEF1 |
| 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 EFHD1_LEF1 |
| 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 | LEF1 | Q9UJU2 | DB00903 | Etacrynic acid | Lymphoid enhancer-binding factor 1 | small molecule | approved|investigational |
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RelatedDiseases for EFHD1_LEF1 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | EFHD1 | C0010606 | Adenoid Cystic Carcinoma | 1 | CTD_human |
| Hgene | EFHD1 | C0036095 | Salivary Gland Neoplasms | 1 | CTD_human |
| Tgene | LEF1 | C0009375 | Colonic Neoplasms | 1 | CTD_human |
| Tgene | LEF1 | C0023434 | Chronic Lymphocytic Leukemia | 1 | CTD_human |
| Tgene | LEF1 | C0036503 | Sebaceous Gland Neoplasms | 1 | CTD_human |
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