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Fusion gene ID: 33178 |
FusionGeneSummary for SEMA6A_TEAD1 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: SEMA6A_TEAD1 | Fusion gene ID: 33178 | Hgene | Tgene | Gene symbol | SEMA6A | TEAD1 | Gene ID | 57556 | 7003 |
| Gene name | semaphorin 6A | TEA domain transcription factor 1 | |
| Synonyms | HT018|SEMA|SEMA6A1|SEMAQ|VIA | AA|NTEF-1|REF1|TCF-13|TCF13|TEAD-1|TEF-1 | |
| Cytomap | 5q23.1 | 11p15.3 | |
| Type of gene | protein-coding | protein-coding | |
| Description | semaphorin-6ASEMA6A-1sema VIasema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6Asemaphorin 6A-1semaphorin VIA | transcriptional enhancer factor TEF-1TEA domain family member 1 (SV40 transcriptional enhancer factor)protein GT-IICtranscription factor 13transcriptional enhancer factor 1 | |
| Modification date | 20180523 | 20180523 | |
| UniProtAcc | Q9H2E6 | P28347 | |
| Ensembl transtripts involved in fusion gene | ENST00000343348, ENST00000257414, ENST00000510263, ENST00000513137, ENST00000282394, ENST00000503865, ENST00000503962, | ENST00000361905, ENST00000527636, ENST00000527575, ENST00000334310, ENST00000361985, ENST00000526600, | |
| Fusion gene scores | * DoF score | 6 X 6 X 2=72 | 5 X 5 X 3=75 |
| # samples | 11 | 6 | |
| ** MAII score | log2(11/72*10)=0.611434712082347 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | log2(6/75*10)=-0.321928094887362 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: SEMA6A [Title/Abstract] AND TEAD1 [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 |
| Hgene | SEMA6A | GO:1903671 | negative regulation of sprouting angiogenesis | 22184411 |
| Tgene | TEAD1 | GO:0035329 | hippo signaling | 18579750|19324877 |
| 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 | AI126955 | SEMA6A | chr5 | 115781995 | + | TEAD1 | chr11 | 12696339 | + |
| * 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-5UTR | ENST00000343348 | ENST00000361905 | SEMA6A | chr5 | 115781995 | + | TEAD1 | chr11 | 12696339 | + |
| intron-5UTR | ENST00000343348 | ENST00000527636 | SEMA6A | chr5 | 115781995 | + | TEAD1 | chr11 | 12696339 | + |
| intron-intron | ENST00000343348 | ENST00000527575 | SEMA6A | chr5 | 115781995 | + | TEAD1 | chr11 | 12696339 | + |
| intron-intron | ENST00000343348 | ENST00000334310 | SEMA6A | chr5 | 115781995 | + | TEAD1 | chr11 | 12696339 | + |
| intron-intron | ENST00000343348 | ENST00000361985 | SEMA6A | chr5 | 115781995 | + | TEAD1 | chr11 | 12696339 | + |
| intron-intron | ENST00000343348 | ENST00000526600 | SEMA6A | chr5 | 115781995 | + | TEAD1 | chr11 | 12696339 | + |
| intron-5UTR | ENST00000257414 | ENST00000361905 | SEMA6A | chr5 | 115781995 | + | TEAD1 | chr11 | 12696339 | + |
| intron-5UTR | ENST00000257414 | ENST00000527636 | SEMA6A | chr5 | 115781995 | + | TEAD1 | chr11 | 12696339 | + |
| intron-intron | ENST00000257414 | ENST00000527575 | SEMA6A | chr5 | 115781995 | + | TEAD1 | chr11 | 12696339 | + |
| intron-intron | ENST00000257414 | ENST00000334310 | SEMA6A | chr5 | 115781995 | + | TEAD1 | chr11 | 12696339 | + |
| intron-intron | ENST00000257414 | ENST00000361985 | SEMA6A | chr5 | 115781995 | + | TEAD1 | chr11 | 12696339 | + |
| intron-intron | ENST00000257414 | ENST00000526600 | SEMA6A | chr5 | 115781995 | + | TEAD1 | chr11 | 12696339 | + |
| intron-5UTR | ENST00000510263 | ENST00000361905 | SEMA6A | chr5 | 115781995 | + | TEAD1 | chr11 | 12696339 | + |
| intron-5UTR | ENST00000510263 | ENST00000527636 | SEMA6A | chr5 | 115781995 | + | TEAD1 | chr11 | 12696339 | + |
| intron-intron | ENST00000510263 | ENST00000527575 | SEMA6A | chr5 | 115781995 | + | TEAD1 | chr11 | 12696339 | + |
| intron-intron | ENST00000510263 | ENST00000334310 | SEMA6A | chr5 | 115781995 | + | TEAD1 | chr11 | 12696339 | + |
| intron-intron | ENST00000510263 | ENST00000361985 | SEMA6A | chr5 | 115781995 | + | TEAD1 | chr11 | 12696339 | + |
| intron-intron | ENST00000510263 | ENST00000526600 | SEMA6A | chr5 | 115781995 | + | TEAD1 | chr11 | 12696339 | + |
| intron-5UTR | ENST00000513137 | ENST00000361905 | SEMA6A | chr5 | 115781995 | + | TEAD1 | chr11 | 12696339 | + |
| intron-5UTR | ENST00000513137 | ENST00000527636 | SEMA6A | chr5 | 115781995 | + | TEAD1 | chr11 | 12696339 | + |
| intron-intron | ENST00000513137 | ENST00000527575 | SEMA6A | chr5 | 115781995 | + | TEAD1 | chr11 | 12696339 | + |
| intron-intron | ENST00000513137 | ENST00000334310 | SEMA6A | chr5 | 115781995 | + | TEAD1 | chr11 | 12696339 | + |
| intron-intron | ENST00000513137 | ENST00000361985 | SEMA6A | chr5 | 115781995 | + | TEAD1 | chr11 | 12696339 | + |
| intron-intron | ENST00000513137 | ENST00000526600 | SEMA6A | chr5 | 115781995 | + | TEAD1 | chr11 | 12696339 | + |
| intron-5UTR | ENST00000282394 | ENST00000361905 | SEMA6A | chr5 | 115781995 | + | TEAD1 | chr11 | 12696339 | + |
| intron-5UTR | ENST00000282394 | ENST00000527636 | SEMA6A | chr5 | 115781995 | + | TEAD1 | chr11 | 12696339 | + |
| intron-intron | ENST00000282394 | ENST00000527575 | SEMA6A | chr5 | 115781995 | + | TEAD1 | chr11 | 12696339 | + |
| intron-intron | ENST00000282394 | ENST00000334310 | SEMA6A | chr5 | 115781995 | + | TEAD1 | chr11 | 12696339 | + |
| intron-intron | ENST00000282394 | ENST00000361985 | SEMA6A | chr5 | 115781995 | + | TEAD1 | chr11 | 12696339 | + |
| intron-intron | ENST00000282394 | ENST00000526600 | SEMA6A | chr5 | 115781995 | + | TEAD1 | chr11 | 12696339 | + |
| intron-5UTR | ENST00000503865 | ENST00000361905 | SEMA6A | chr5 | 115781995 | + | TEAD1 | chr11 | 12696339 | + |
| intron-5UTR | ENST00000503865 | ENST00000527636 | SEMA6A | chr5 | 115781995 | + | TEAD1 | chr11 | 12696339 | + |
| intron-intron | ENST00000503865 | ENST00000527575 | SEMA6A | chr5 | 115781995 | + | TEAD1 | chr11 | 12696339 | + |
| intron-intron | ENST00000503865 | ENST00000334310 | SEMA6A | chr5 | 115781995 | + | TEAD1 | chr11 | 12696339 | + |
| intron-intron | ENST00000503865 | ENST00000361985 | SEMA6A | chr5 | 115781995 | + | TEAD1 | chr11 | 12696339 | + |
| intron-intron | ENST00000503865 | ENST00000526600 | SEMA6A | chr5 | 115781995 | + | TEAD1 | chr11 | 12696339 | + |
| intron-5UTR | ENST00000503962 | ENST00000361905 | SEMA6A | chr5 | 115781995 | + | TEAD1 | chr11 | 12696339 | + |
| intron-5UTR | ENST00000503962 | ENST00000527636 | SEMA6A | chr5 | 115781995 | + | TEAD1 | chr11 | 12696339 | + |
| intron-intron | ENST00000503962 | ENST00000527575 | SEMA6A | chr5 | 115781995 | + | TEAD1 | chr11 | 12696339 | + |
| intron-intron | ENST00000503962 | ENST00000334310 | SEMA6A | chr5 | 115781995 | + | TEAD1 | chr11 | 12696339 | + |
| intron-intron | ENST00000503962 | ENST00000361985 | SEMA6A | chr5 | 115781995 | + | TEAD1 | chr11 | 12696339 | + |
| intron-intron | ENST00000503962 | ENST00000526600 | SEMA6A | chr5 | 115781995 | + | TEAD1 | chr11 | 12696339 | + |
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FusionProtFeatures for SEMA6A_TEAD1 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| SEMA6A | TEAD1 |
| Cell surface receptor for PLXNA2 that plays an importantrole in cell-cell signaling. Required for normal granule cellmigration in the developing cerebellum. Promotes reorganization ofthe actin cytoskeleton and plays an important role in axonguidance in the developing central nervous system. Can act asrepulsive axon guidance cue. Has repulsive action towardsmigrating granular neurons. May play a role in channelingsympathetic axons into the sympathetic chains and controlling thetemporal sequence of sympathetic target innervation (Bysimilarity). {ECO:0000250}. | Transcription factor which plays a key role in the Hipposignaling pathway, a pathway involved in organ size control andtumor suppression by restricting proliferation and promotingapoptosis. The core of this pathway is composed of a kinasecascade wherein MST1/MST2, in complex with its regulatory proteinSAV1, phosphorylates and activates LATS1/2 in complex with itsregulatory protein MOB1, which in turn phosphorylates andinactivates YAP1 oncoprotein and WWTR1/TAZ. Acts by mediating geneexpression of YAP1 and WWTR1/TAZ, thereby regulating cellproliferation, migration and epithelial mesenchymal transition(EMT) induction. Binds specifically and cooperatively to the SPHand GT-IIC 'enhansons' (5'-GTGGAATGT-3') and activatestranscription in vivo in a cell-specific manner. The activationfunction appears to be mediated by a limiting cell-specifictranscriptional intermediary factor (TIF). Involved in cardiacdevelopment. Binds to the M-CAT motif.{ECO:0000269|PubMed:18579750, ECO:0000269|PubMed:19324877}. |
| 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 SEMA6A_TEAD1 |
| 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 SEMA6A_TEAD1 |
| 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 SEMA6A_TEAD1 |
| 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 SEMA6A_TEAD1 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Tgene | TEAD1 | C1862382 | SVEINSSON CHORIORETINAL ATROPHY | 1 | CTD_human;ORPHANET;UNIPROT |
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