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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:EFHD1-LEF1 (FusionGDB2 ID:25329) |
Fusion Gene Summary for EFHD1-LEF1 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: EFHD1-LEF1 | Fusion gene ID: 25329 | 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 | 20200313 | 20200322 | |
| UniProtAcc | Q9BUP0 | Q9UJU2 | |
| Ensembl transtripts involved in fusion gene | ENST00000409613, ENST00000264059, ENST00000409708, ENST00000410095, | ENST00000265165, ENST00000379951, ENST00000438313, ENST00000510624, ENST00000512172, ENST00000503879, | |
| Fusion gene scores | * DoF score | 6 X 7 X 2=84 | 7 X 7 X 2=98 |
| # samples | 7 | 8 | |
| ** MAII score | log2(7/84*10)=-0.263034405833794 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(8/98*10)=-0.292781749227846 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: EFHD1 [Title/Abstract] AND LEF1 [Title/Abstract] AND fusion [Title/Abstract] | ||
| Most frequent breakpoint | EFHD1(233503439)-LEF1(109084733), # samples:1 | ||
| 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 |
| 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: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 | 10644691|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 breakpoints across EFHD1 (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 LEF1 (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 |
| ChiTaRS5.0 | N/A | BE144130 | EFHD1 | chr2 | 233503439 | + | LEF1 | chr4 | 109084733 | + |
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Fusion Gene ORF analysis for EFHD1-LEF1 |
| 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 | + |
| 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 EFHD1-LEF1 |
| 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 EFHD1-LEF1 |
| 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 |
| EFHD1 | LEF1 |
| FUNCTION: Acts as a calcium sensor for mitochondrial flash (mitoflash) activation, an event characterized by stochastic bursts of superoxide production (PubMed:26975899). May play a role in neuronal differentiation (By similarity). {ECO:0000250|UniProtKB:Q9D4J1, ECO:0000269|PubMed:26975899}. | FUNCTION: Transcription factor that binds DNA in a sequence-specific manner (PubMed:2010090). Participates in the Wnt signaling pathway (By similarity). Activates transcription of target genes in the presence of CTNNB1 and EP300 (By similarity). PIAG antagonizes both Wnt-dependent and Wnt-independent activation by LEF1 (By similarity). TLE1, TLE2, TLE3 and TLE4 repress transactivation mediated by LEF1 and CTNNB1 (PubMed:11266540). Regulates T-cell receptor alpha enhancer function (PubMed:19653274). Required for IL17A expressing gamma-delta T-cell maturation and development, via binding to regulator loci of BLK to modulate expression (By similarity). May play a role in hair cell differentiation and follicle morphogenesis (By similarity). {ECO:0000250|UniProtKB:P27782, ECO:0000269|PubMed:11266540, ECO:0000269|PubMed:19653274, ECO:0000269|PubMed:2010090}.; FUNCTION: [Isoform 1]: Transcriptionally activates MYC and CCND1 expression and enhances proliferation of pancreatic tumor cells. {ECO:0000269|PubMed:19653274}.; FUNCTION: [Isoform 3]: Lacks the CTNNB1 interaction domain and may therefore be an antagonist for Wnt signaling. {ECO:0000269|PubMed:11326276}.; FUNCTION: [Isoform 5]: Transcriptionally activates the fibronectin promoter, binds to and represses transcription from the E-cadherin promoter in a CTNNB1-independent manner, and is involved in reducing cellular aggregation and increasing cell migration of pancreatic cancer cells. {ECO:0000269|PubMed:19653274}. |
| 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 EFHD1-LEF1 |
| 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 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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Related Drugs for EFHD1-LEF1 |
| 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 |
| Tgene | LEF1 | Q9UJU2 | DB00903 | Etacrynic acid | Small molecule | Approved|Investigational |
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Related Diseases 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 |
| Hgene | EFHD1 | C0220636 | Malignant neoplasm of salivary gland | 1 | CTD_human |
| Tgene | LEF1 | C0006142 | Malignant neoplasm of breast | 1 | CTD_human |
| Tgene | LEF1 | C0007102 | Malignant tumor of colon | 1 | CTD_human |
| Tgene | LEF1 | C0009375 | Colonic Neoplasms | 1 | CTD_human |
| Tgene | LEF1 | C0023434 | Chronic Lymphocytic Leukemia | 1 | CTD_human |
| Tgene | LEF1 | C0027626 | Neoplasm Invasiveness | 1 | CTD_human |
| Tgene | LEF1 | C0027627 | Neoplasm Metastasis | 1 | CTD_human |
| Tgene | LEF1 | C0036503 | Sebaceous Gland Neoplasms | 1 | CTD_human |
| Tgene | LEF1 | C0678222 | Breast Carcinoma | 1 | CTD_human |
| Tgene | LEF1 | C1257931 | Mammary Neoplasms, Human | 1 | CTD_human |
| Tgene | LEF1 | C1458155 | Mammary Neoplasms | 1 | CTD_human |
| Tgene | LEF1 | C4704874 | Mammary Carcinoma, Human | 1 | CTD_human |
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