|
||||||
|
 | |
| |
| |
| |
| |
|
Fusion gene ID: 18536 |
FusionGeneSummary for KHDRBS3_CMTM6 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: KHDRBS3_CMTM6 | Fusion gene ID: 18536 | Hgene | Tgene | Gene symbol | KHDRBS3 | CMTM6 | Gene ID | 10656 | 54918 |
| Gene name | KH RNA binding domain containing, signal transduction associated 3 | CKLF like MARVEL transmembrane domain containing 6 | |
| Synonyms | Etle|SALP|SLM-2|SLM2|T-STAR|TSTAR|etoile | CKLFSF6|PRO2219 | |
| Cytomap | 8q24.23 | 3p22.3 | |
| Type of gene | protein-coding | protein-coding | |
| Description | KH domain-containing, RNA-binding, signal transduction-associated protein 3KH domain containing, RNA binding, signal transduction associated 3RNA-binding protein T-StarSam68-like phosphotyrosine protein, T-STARsam68-like mammalian protein 2 | CKLF-like MARVEL transmembrane domain-containing protein 6chemokine-like factor super family 6chemokine-like factor superfamily 6chemokine-like factor superfamily member 6 | |
| Modification date | 20180522 | 20180523 | |
| UniProtAcc | O75525 | Q9NX76 | |
| Ensembl transtripts involved in fusion gene | ENST00000355849, ENST00000520981, ENST00000522578, | ENST00000205636, | |
| Fusion gene scores | * DoF score | 6 X 4 X 4=96 | 3 X 4 X 3=36 |
| # samples | 6 | 4 | |
| ** MAII score | log2(6/96*10)=-0.678071905112638 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(4/36*10)=0.15200309344505 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | |
| Context | PubMed: KHDRBS3 [Title/Abstract] AND CMTM6 [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 | KHDRBS3 | GO:0051259 | protein complex oligomerization | 10332027|10749975 |
| 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 | LD | LGG | TCGA-S9-A6U6-01A | KHDRBS3 | chr8 | 136569830 | + | CMTM6 | chr3 | 32529528 | - |
| * 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 | ENST00000355849 | ENST00000205636 | KHDRBS3 | chr8 | 136569830 | + | CMTM6 | chr3 | 32529528 | - |
| intron-3CDS | ENST00000520981 | ENST00000205636 | KHDRBS3 | chr8 | 136569830 | + | CMTM6 | chr3 | 32529528 | - |
| intron-3CDS | ENST00000522578 | ENST00000205636 | KHDRBS3 | chr8 | 136569830 | + | CMTM6 | chr3 | 32529528 | - |
Top |
FusionProtFeatures for KHDRBS3_CMTM6 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| KHDRBS3 | CMTM6 |
| RNA-binding protein that plays a role in the regulationof alternative splicing and influences mRNA splice site selectionand exon inclusion. Binds preferentially to the 5'-[AU]UAAA-3'motif in vitro. Binds optimally to RNA containing 5'-[AU]UAA-3' asa bipartite motif spaced by more than 15 nucleotides. Bindspoly(A). RNA-binding abilities are down-regulated by tyrosinekinase PTK6 (PubMed:10564820, PubMed:19561594, PubMed:26758068).Involved in splice site selection of vascular endothelial growthfactor (PubMed:15901763). In vitro regulates CD44 alternativesplicing by direct binding to purine-rich exonic enhancer (Bysimilarity). Can regulate alternative splicing of neurexins NRXN1-3 in the laminin G-like domain 6 containing the evolutionaryconserved neurexin alternative spliced segment 4 (AS4) involved inneurexin selective targeting to postsynaptic partners such asneuroligins and LRRTM family members (PubMed:26758068). Targeted,cell-type specific splicing regulation of NRXN1 at AS4 is involvedin neuronal glutamatergic synapse function and plasticity (Bysimilarity). May regulate expression of KHDRBS2/SLIM-1 in definedbrain neuron populations by modifying its alternative splicing (Bysimilarity). Can bind FABP9 mRNA (By similarity). May play a roleas a negative regulator of cell growth. Inhibits cellproliferation. {ECO:0000250|UniProtKB:Q9JLP1,ECO:0000250|UniProtKB:Q9R226, ECO:0000269|PubMed:10564820,ECO:0000269|PubMed:15901763, ECO:0000269|PubMed:19561594,ECO:0000269|PubMed:26758068}. (Microbial infection) Involved in post-transcriptionalregulation of HIV-1 gene expression.{ECO:0000269|PubMed:11741900}. | Master regulator of recycling and plasma membraneexpression of PD-L1/CD274, an immune inhibitory ligand criticalfor immune tolerance to self and antitumor immunity. Associateswith both constitutive and IFNG-induced PD-L1/CD274 at recyclingendosomes, where it protects PD-L1/CD274 from being targeted forlysosomal degradation, likely by preventing its STUB1-mediatedubiquitination. May stabilize PD-L1/CD274 expression on antigenpresenting cells and potentiates inhibitory signaling byPDCD1/CD279, its receptor on T-cells, ultimately triggering T-cellanergy. {ECO:0000269|PubMed:28813410,ECO:0000269|PubMed:28813417}. |
| 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 KHDRBS3_CMTM6 |
| 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 KHDRBS3_CMTM6 |
| 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 |
| KHDRBS3 | ZNF408, BAHD1, PSMF1, RBMX, CCDC33, LNX1, NUDT18, RBM7, HNRNPK, KHDRBS2, SIAH1, PRMT1, SGSM2, RPAP2, CACNA1A, RBBP6, SERPINB5, FBXO32, SNRPC, U2AF2, PTBP2, KHDRBS3, KHDRBS1, HNRNPC, FUS, NELFB, INPP5D, PRPF31, NCOA5, MARK4, DMRT3, YTHDC1, BMI1, FBXW11, ATXN2, HNRNPR, SYNCRIP, IFI16, PPP1R13B, G3BP1 | CMTM6 | DUSP10, XRCC6, SUMO2, ATP13A2, DNMT3B, PPBP, ELAVL1, FAM9B, SPINT2, GLIPR1, PMF1, KIR2DS2, P2RY12, LPAR1, SCARA3, PMEL, PTPRN, TMEM237 |
| - 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 KHDRBS3_CMTM6 |
| 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 KHDRBS3_CMTM6 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
|