|
||||||
|
 | |
| |
| |
| |
| |
|
Fusion gene ID: 31663 |
FusionGeneSummary for ROBO1_SEMA5B |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: ROBO1_SEMA5B | Fusion gene ID: 31663 | Hgene | Tgene | Gene symbol | ROBO1 | SEMA5B | Gene ID | 6091 | 54437 |
| Gene name | roundabout guidance receptor 1 | semaphorin 5B | |
| Synonyms | DUTT1|SAX3 | SEMAG|SemG | |
| Cytomap | 3p12.3 | 3q21.1 | |
| Type of gene | protein-coding | protein-coding | |
| Description | roundabout homolog 1deleted in U twenty twentyroundabout, axon guidance receptor, homolog 1 | semaphorin-5Bsema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B | |
| Modification date | 20180519 | 20180523 | |
| UniProtAcc | Q9Y6N7 | Q9P283 | |
| Ensembl transtripts involved in fusion gene | ENST00000464233, ENST00000436010, ENST00000495273, ENST00000467549, ENST00000466906, | ENST00000357599, ENST00000195173, ENST00000451055, ENST00000465147, | |
| Fusion gene scores | * DoF score | 11 X 11 X 5=605 | 4 X 4 X 3=48 |
| # samples | 11 | 4 | |
| ** MAII score | log2(11/605*10)=-2.4594316186373 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(4/48*10)=-0.263034405833794 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: ROBO1 [Title/Abstract] AND SEMA5B [Title/Abstract] AND fusion [Title/Abstract] | ||
| Functional or gene categories assigned by FusionGDB annotation | Tumor suppressor gene involved fusion gene, retained protein feature but frameshift. DDR (DNA damage repair) gene involved fusion gene, in-frame but not retained their domain. | ||
| * 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 | ROBO1 | GO:0007156 | homophilic cell adhesion via plasma membrane adhesion molecules | 12504588 |
| Hgene | ROBO1 | GO:0021836 | chemorepulsion involved in postnatal olfactory bulb interneuron migration | 15207848 |
| Hgene | ROBO1 | GO:0050772 | positive regulation of axonogenesis | 12504588 |
| Hgene | ROBO1 | GO:0050925 | negative regulation of negative chemotaxis | 11748139 |
| 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 | SKCM | TCGA-EB-A4IQ-01A | ROBO1 | chr3 | 78688894 | - | SEMA5B | chr3 | 122634737 | - |
| * 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 |
| Frame-shift | ENST00000464233 | ENST00000357599 | ROBO1 | chr3 | 78688894 | - | SEMA5B | chr3 | 122634737 | - |
| Frame-shift | ENST00000464233 | ENST00000195173 | ROBO1 | chr3 | 78688894 | - | SEMA5B | chr3 | 122634737 | - |
| Frame-shift | ENST00000464233 | ENST00000451055 | ROBO1 | chr3 | 78688894 | - | SEMA5B | chr3 | 122634737 | - |
| 5CDS-intron | ENST00000464233 | ENST00000465147 | ROBO1 | chr3 | 78688894 | - | SEMA5B | chr3 | 122634737 | - |
| Frame-shift | ENST00000436010 | ENST00000357599 | ROBO1 | chr3 | 78688894 | - | SEMA5B | chr3 | 122634737 | - |
| Frame-shift | ENST00000436010 | ENST00000195173 | ROBO1 | chr3 | 78688894 | - | SEMA5B | chr3 | 122634737 | - |
| Frame-shift | ENST00000436010 | ENST00000451055 | ROBO1 | chr3 | 78688894 | - | SEMA5B | chr3 | 122634737 | - |
| 5CDS-intron | ENST00000436010 | ENST00000465147 | ROBO1 | chr3 | 78688894 | - | SEMA5B | chr3 | 122634737 | - |
| Frame-shift | ENST00000495273 | ENST00000357599 | ROBO1 | chr3 | 78688894 | - | SEMA5B | chr3 | 122634737 | - |
| Frame-shift | ENST00000495273 | ENST00000195173 | ROBO1 | chr3 | 78688894 | - | SEMA5B | chr3 | 122634737 | - |
| Frame-shift | ENST00000495273 | ENST00000451055 | ROBO1 | chr3 | 78688894 | - | SEMA5B | chr3 | 122634737 | - |
| 5CDS-intron | ENST00000495273 | ENST00000465147 | ROBO1 | chr3 | 78688894 | - | SEMA5B | chr3 | 122634737 | - |
| Frame-shift | ENST00000467549 | ENST00000357599 | ROBO1 | chr3 | 78688894 | - | SEMA5B | chr3 | 122634737 | - |
| Frame-shift | ENST00000467549 | ENST00000195173 | ROBO1 | chr3 | 78688894 | - | SEMA5B | chr3 | 122634737 | - |
| Frame-shift | ENST00000467549 | ENST00000451055 | ROBO1 | chr3 | 78688894 | - | SEMA5B | chr3 | 122634737 | - |
| 5CDS-intron | ENST00000467549 | ENST00000465147 | ROBO1 | chr3 | 78688894 | - | SEMA5B | chr3 | 122634737 | - |
| intron-3CDS | ENST00000466906 | ENST00000357599 | ROBO1 | chr3 | 78688894 | - | SEMA5B | chr3 | 122634737 | - |
| intron-3CDS | ENST00000466906 | ENST00000195173 | ROBO1 | chr3 | 78688894 | - | SEMA5B | chr3 | 122634737 | - |
| intron-3CDS | ENST00000466906 | ENST00000451055 | ROBO1 | chr3 | 78688894 | - | SEMA5B | chr3 | 122634737 | - |
| intron-intron | ENST00000466906 | ENST00000465147 | ROBO1 | chr3 | 78688894 | - | SEMA5B | chr3 | 122634737 | - |
Top |
FusionProtFeatures for ROBO1_SEMA5B |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| ROBO1 | SEMA5B |
| Receptor for SLIT1 and SLIT2 that mediates cellularresponses to molecular guidance cues in cellular migration,including axonal navigation at the ventral midline of the neuraltube and projection of axons to different regions during neuronaldevelopment (PubMed:10102268, PubMed:24560577). Interaction withthe intracellular domain of FLRT3 mediates axon attraction towardscells expressing NTN1 (PubMed:24560577). In axon growth cones, thesilencing of the attractive effect of NTN1 by SLIT2 may requirethe formation of a ROBO1-DCC complex (By similarity). Plays a rolein the regulation of cell migration via its interaction withMYO9B; inhibits MYO9B-mediated stimulation of RHOA GTPaseactivity, and thereby leads to increased levels of active, GTP-bound RHOA (PubMed:26529257). May be required for lung development(By similarity). {ECO:0000250|UniProtKB:O89026,ECO:0000269|PubMed:10102268, ECO:0000269|PubMed:24560577,ECO:0000269|PubMed:26529257, ECO:0000305}. | May act as positive axonal guidance cues. {ECO:0000250}. |
| 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 |
Top |
FusionGeneSequence for ROBO1_SEMA5B |
| 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). |
Top |
FusionGenePPI for ROBO1_SEMA5B |
| 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 |
| ROBO1 | TUBB3, MAPK14, USP33, MAPK12, ARPP19, CDK2, PARD6B, CTDSPL, GDPD5, TRIM25 | SEMA5B | NUDT21, MRPL44, FAM118B, SPRY2, TK1, SMN1, ANXA7, C11orf58, GAN |
| - 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 |
Top |
RelatedDrugs for ROBO1_SEMA5B |
| 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 |
Top |
RelatedDiseases for ROBO1_SEMA5B |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | ROBO1 | C0001418 | Adenocarcinoma | 1 | CTD_human |
| Hgene | ROBO1 | C0004352 | Autistic Disorder | 1 | CTD_human |
| Hgene | ROBO1 | C0024121 | Lung Neoplasms | 1 | CTD_human |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
|