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Fusion gene ID: 27641 |
FusionGeneSummary for PLEKHG5_KHDRBS1 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: PLEKHG5_KHDRBS1 | Fusion gene ID: 27641 | Hgene | Tgene | Gene symbol | PLEKHG5 | KHDRBS1 | Gene ID | 57449 | 10657 |
| Gene name | pleckstrin homology and RhoGEF domain containing G5 | KH RNA binding domain containing, signal transduction associated 1 | |
| Synonyms | CMTRIC|DSMA4|GEF720|Syx|Tech | Sam68|p62|p68 | |
| Cytomap | 1p36.31 | 1p35.2 | |
| Type of gene | protein-coding | protein-coding | |
| Description | pleckstrin homology domain-containing family G member 5NFkB activating proteinPH domain-containing family G member 5guanine nucleotide exchange factor 720novel PH domain-containing proteinpleckstrin homology domain containing, family G (with RhoGef d | KH domain-containing, RNA-binding, signal transduction-associated protein 1GAP-associated tyrosine phosphoprotein p62 (Sam68)KH domain containing, RNA binding, signal transduction associated 1p21 Ras GTPase-activating protein-associated p62src-associa | |
| Modification date | 20180519 | 20180522 | |
| UniProtAcc | O94827 | Q07666 | |
| Ensembl transtripts involved in fusion gene | ENST00000377748, ENST00000377732, ENST00000400915, ENST00000377740, ENST00000377737, ENST00000537245, ENST00000544978, ENST00000400913, ENST00000340850, ENST00000377725, ENST00000377728, ENST00000535355, | ENST00000327300, ENST00000307714, ENST00000492989, | |
| Fusion gene scores | * DoF score | 4 X 3 X 4=48 | 7 X 5 X 6=210 |
| # samples | 4 | 7 | |
| ** MAII score | log2(4/48*10)=-0.263034405833794 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(7/210*10)=-1.58496250072116 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: PLEKHG5 [Title/Abstract] AND KHDRBS1 [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 | KHDRBS1 | GO:0007166 | cell surface receptor signaling pathway | 9045636 |
| Tgene | KHDRBS1 | GO:0031647 | regulation of protein stability | 21613532 |
| Tgene | KHDRBS1 | GO:0045948 | positive regulation of translational initiation | 21613532 |
| Tgene | KHDRBS1 | GO:0046833 | positive regulation of RNA export from nucleus | 21613532 |
| Tgene | KHDRBS1 | 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 | RV | ESCA | TCGA-JY-A6FH-01A | PLEKHG5 | chr1 | 6579505 | - | KHDRBS1 | chr1 | 32495899 | + |
| * 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 | ENST00000377748 | ENST00000327300 | PLEKHG5 | chr1 | 6579505 | - | KHDRBS1 | chr1 | 32495899 | + |
| 5CDS-3UTR | ENST00000377748 | ENST00000307714 | PLEKHG5 | chr1 | 6579505 | - | KHDRBS1 | chr1 | 32495899 | + |
| 5CDS-3UTR | ENST00000377748 | ENST00000492989 | PLEKHG5 | chr1 | 6579505 | - | KHDRBS1 | chr1 | 32495899 | + |
| intron-3CDS | ENST00000377732 | ENST00000327300 | PLEKHG5 | chr1 | 6579505 | - | KHDRBS1 | chr1 | 32495899 | + |
| intron-3UTR | ENST00000377732 | ENST00000307714 | PLEKHG5 | chr1 | 6579505 | - | KHDRBS1 | chr1 | 32495899 | + |
| intron-3UTR | ENST00000377732 | ENST00000492989 | PLEKHG5 | chr1 | 6579505 | - | KHDRBS1 | chr1 | 32495899 | + |
| intron-3CDS | ENST00000400915 | ENST00000327300 | PLEKHG5 | chr1 | 6579505 | - | KHDRBS1 | chr1 | 32495899 | + |
| intron-3UTR | ENST00000400915 | ENST00000307714 | PLEKHG5 | chr1 | 6579505 | - | KHDRBS1 | chr1 | 32495899 | + |
| intron-3UTR | ENST00000400915 | ENST00000492989 | PLEKHG5 | chr1 | 6579505 | - | KHDRBS1 | chr1 | 32495899 | + |
| Frame-shift | ENST00000377740 | ENST00000327300 | PLEKHG5 | chr1 | 6579505 | - | KHDRBS1 | chr1 | 32495899 | + |
| 5CDS-3UTR | ENST00000377740 | ENST00000307714 | PLEKHG5 | chr1 | 6579505 | - | KHDRBS1 | chr1 | 32495899 | + |
| 5CDS-3UTR | ENST00000377740 | ENST00000492989 | PLEKHG5 | chr1 | 6579505 | - | KHDRBS1 | chr1 | 32495899 | + |
| 5UTR-3CDS | ENST00000377737 | ENST00000327300 | PLEKHG5 | chr1 | 6579505 | - | KHDRBS1 | chr1 | 32495899 | + |
| 5UTR-3UTR | ENST00000377737 | ENST00000307714 | PLEKHG5 | chr1 | 6579505 | - | KHDRBS1 | chr1 | 32495899 | + |
| 5UTR-3UTR | ENST00000377737 | ENST00000492989 | PLEKHG5 | chr1 | 6579505 | - | KHDRBS1 | chr1 | 32495899 | + |
| intron-3CDS | ENST00000537245 | ENST00000327300 | PLEKHG5 | chr1 | 6579505 | - | KHDRBS1 | chr1 | 32495899 | + |
| intron-3UTR | ENST00000537245 | ENST00000307714 | PLEKHG5 | chr1 | 6579505 | - | KHDRBS1 | chr1 | 32495899 | + |
| intron-3UTR | ENST00000537245 | ENST00000492989 | PLEKHG5 | chr1 | 6579505 | - | KHDRBS1 | chr1 | 32495899 | + |
| intron-3CDS | ENST00000544978 | ENST00000327300 | PLEKHG5 | chr1 | 6579505 | - | KHDRBS1 | chr1 | 32495899 | + |
| intron-3UTR | ENST00000544978 | ENST00000307714 | PLEKHG5 | chr1 | 6579505 | - | KHDRBS1 | chr1 | 32495899 | + |
| intron-3UTR | ENST00000544978 | ENST00000492989 | PLEKHG5 | chr1 | 6579505 | - | KHDRBS1 | chr1 | 32495899 | + |
| intron-3CDS | ENST00000400913 | ENST00000327300 | PLEKHG5 | chr1 | 6579505 | - | KHDRBS1 | chr1 | 32495899 | + |
| intron-3UTR | ENST00000400913 | ENST00000307714 | PLEKHG5 | chr1 | 6579505 | - | KHDRBS1 | chr1 | 32495899 | + |
| intron-3UTR | ENST00000400913 | ENST00000492989 | PLEKHG5 | chr1 | 6579505 | - | KHDRBS1 | chr1 | 32495899 | + |
| intron-3CDS | ENST00000340850 | ENST00000327300 | PLEKHG5 | chr1 | 6579505 | - | KHDRBS1 | chr1 | 32495899 | + |
| intron-3UTR | ENST00000340850 | ENST00000307714 | PLEKHG5 | chr1 | 6579505 | - | KHDRBS1 | chr1 | 32495899 | + |
| intron-3UTR | ENST00000340850 | ENST00000492989 | PLEKHG5 | chr1 | 6579505 | - | KHDRBS1 | chr1 | 32495899 | + |
| intron-3CDS | ENST00000377725 | ENST00000327300 | PLEKHG5 | chr1 | 6579505 | - | KHDRBS1 | chr1 | 32495899 | + |
| intron-3UTR | ENST00000377725 | ENST00000307714 | PLEKHG5 | chr1 | 6579505 | - | KHDRBS1 | chr1 | 32495899 | + |
| intron-3UTR | ENST00000377725 | ENST00000492989 | PLEKHG5 | chr1 | 6579505 | - | KHDRBS1 | chr1 | 32495899 | + |
| intron-3CDS | ENST00000377728 | ENST00000327300 | PLEKHG5 | chr1 | 6579505 | - | KHDRBS1 | chr1 | 32495899 | + |
| intron-3UTR | ENST00000377728 | ENST00000307714 | PLEKHG5 | chr1 | 6579505 | - | KHDRBS1 | chr1 | 32495899 | + |
| intron-3UTR | ENST00000377728 | ENST00000492989 | PLEKHG5 | chr1 | 6579505 | - | KHDRBS1 | chr1 | 32495899 | + |
| intron-3CDS | ENST00000535355 | ENST00000327300 | PLEKHG5 | chr1 | 6579505 | - | KHDRBS1 | chr1 | 32495899 | + |
| intron-3UTR | ENST00000535355 | ENST00000307714 | PLEKHG5 | chr1 | 6579505 | - | KHDRBS1 | chr1 | 32495899 | + |
| intron-3UTR | ENST00000535355 | ENST00000492989 | PLEKHG5 | chr1 | 6579505 | - | KHDRBS1 | chr1 | 32495899 | + |
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FusionProtFeatures for PLEKHG5_KHDRBS1 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| PLEKHG5 | KHDRBS1 |
| Recruited and tyrosine phosphorylated by severalreceptor systems, for example the T-cell, leptin and insulinreceptors. Once phosphorylated, functions as an adapter protein insignal transduction cascades by binding to SH2 and SH3 domain-containing proteins. Role in G2-M progression in the cell cycle.Represses CBP-dependent transcriptional activation apparently bycompeting with other nuclear factors for binding to CBP. Also actsas a putative regulator of mRNA stability and/or translation ratesand mediates mRNA nuclear export. Positively regulates theassociation of constitutive transport element (CTE)-containingmRNA with large polyribosomes and translation initiation.According to some authors, is not involved in thenucleocytoplasmic export of unspliced (CTE)-containing RNA speciesaccording to (PubMed:22253824). RNA-binding protein that plays arole in the regulation of alternative splicing and influences mRNAsplice site selection and exon inclusion. Binds to RNA containing5'-[AU]UAA-3' as a bipartite motif spaced by more than 15nucleotides. Binds poly(A). Can regulate CD44 alternative splicingin a Ras pathway-dependent manner (By similarity). In cooperationwith HNRNPA1 modulates alternative splicing of BCL2L1 by promotingsplicing toward isoform Bcl-X(S), and of SMN1 (PubMed:17371836,PubMed:20186123). Can regulate alternative splicing of NRXN1 andNRXN3 in the laminin G-like domain 6 containing the evolutionaryconserved neurexin alternative spliced segment 4 (AS4) involved inneurexin selective targeting to postsynaptic partners. In aneuronal activity-dependent manner cooperates synergistically withKHDRBS2/SLIM-1 in regulation of NRXN1 exon skipping at AS4. Thecooperation with KHDRBS2/SLIM-1 is antagonistic for regulation ofNXRN3 alternative splicing at AS4 (By similarity).{ECO:0000250|UniProtKB:Q60749, ECO:0000269|PubMed:15021911,ECO:0000269|PubMed:17371836, ECO:0000269|PubMed:20186123,ECO:0000269|PubMed:20610388, ECO:0000269|PubMed:22253824,ECO:0000269|PubMed:26758068}. Isoform 3, which is expressed in growth-arrested cellsonly, inhibits S phase. {ECO:0000269|PubMed:9013542}. |
| 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 PLEKHG5_KHDRBS1 |
| 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 PLEKHG5_KHDRBS1 |
| 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 |
| PLEKHG5 | LNX1, LNX2, RND1, RND2, RND3, BTRC, FBXW11, YWHAE, YWHAZ, YWHAG, PDP1, GNB4, YWHAH, YWHAQ, USP7 | KHDRBS1 | RAPSN, CREBBP, PRMT1, EMG1, SRC, STUB1, TUBB3, GRB2, GRAP2, PLCG1, FYN, BTK, PIK3R1, IRS1, INSR, RASA1, CRK, NCK1, STAT3, YTHDC1, NCF1, KHDRBS1, PTK6, DHX9, ITK, WBP4, FNBP4, HNRNPK, LCK, KHDRBS2, PACSIN1, PACSIN2, PACSIN3, SMARCA2, SRRM1, SH3GL1, RIPK1, FADD, CASP8, SMARCAD1, LYN, YES1, ITSN2, HCK, NPHP1, SNX9, OSTF1, SH3KBP1, ABI2, AHI1, AMPH, ARHGEF9, ARHGEF4, PPP1R13B, BAIAP2L1, PSTPIP1, CD2AP, DLG1, DLG2, DLG3, DLG4, DOCK2, DOCK3, FGR, SH3PXD2A, FRK, BZRAP1, ITSN1, MIA2, MPP6, MYO1C, MYO7A, NCK2, SORBS1, RUSC2, SASH1, SH3YL1, SKAP2, SNX30, SPATA13, NCKIPSD, UBASH3B, DNMBP, VAV1, ZDHHC6, TJP1, CUL3, CAND1, HNRNPR, HNRNPC, ESR1, U2AF2, RALY, RBM7, DDX5, CIRBP, PTBP2, KHDRBS3, RBFOX2, SMAD2, CBX6, TNFRSF1A, CD81, CSK, AGO1, CREB3L3, PIK3R3, RBMX, CRKL, EFEMP1, SCG5, SSFA2, TBL1X, GPHN, POT1, AZIN1, ACTB, APBB1, GAS7, RPA1, RPA2, RPA3, LGR4, DROSHA, ZBTB7A, CUL7, OBSL1, CCDC8, EZH2, SUZ12, RNF2, BMI1, FBXW11, NTRK1, ATXN2, ATXN2L, COPA, DDX17, DHX15, GLRX3, SFPQ, SRSF3, NCSTN, RBM15, SYNCRIP, USO1, WBP11, BANP, HDAC6, EWSR1, SRPK2, CLK1, HIST1H3E, HNRNPA1, PPP1CB, MATR3, MPHOSPH8, CRY1, CRY2, SNW1, CDC5L, UBC, TRIM25, BRCA1 |
| - 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 PLEKHG5_KHDRBS1 |
| 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 PLEKHG5_KHDRBS1 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | PLEKHG5 | C0032460 | Polycystic Ovary Syndrome | 1 | CTD_human |
| Hgene | PLEKHG5 | C1970211 | Spinal Muscular Atrophy, Distal, Autosomal Recessive, 4 | 1 | CTD_human;ORPHANET;UNIPROT |
| Hgene | PLEKHG5 | C3809309 | CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE C | 1 | ORPHANET;UNIPROT |
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