|
||||||
|
 | |
| |
| |
| |
| |
|
Fusion gene ID: 19017 |
FusionGeneSummary for KLHL20_TPTE |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: KLHL20_TPTE | Fusion gene ID: 19017 | Hgene | Tgene | Gene symbol | KLHL20 | TPTE | Gene ID | 27252 | 7179 |
| Gene name | kelch like family member 20 | transmembrane phosphatase with tensin homology | |
| Synonyms | KHLHX|KLEIP|KLHLX | CT44|PTEN2 | |
| Cytomap | 1q25.1 | 21p11.2 | |
| Type of gene | protein-coding | protein-coding | |
| Description | kelch-like protein 20Kelch motif containing proteinkelch-like ECT2-interacting proteinkelch-like protein X | putative tyrosine-protein phosphatase TPTEPTEN-related tyrosine phosphatasecancer/testis antigen 44tensin, putative protein-tyrosine phosphatasetumor antigen BJ-HCC-5 | |
| Modification date | 20180523 | 20180519 | |
| UniProtAcc | Q9Y2M5 | P56180 | |
| Ensembl transtripts involved in fusion gene | ENST00000546011, ENST00000209884, ENST00000493170, | ENST00000415664, ENST00000298232, ENST00000342420, ENST00000361285, | |
| Fusion gene scores | * DoF score | 1 X 1 X 1=1 | 2 X 2 X 2=8 |
| # samples | 1 | 2 | |
| ** MAII score | log2(1/1*10)=3.32192809488736 | log2(2/8*10)=1.32192809488736 | |
| Context | PubMed: KLHL20 [Title/Abstract] AND TPTE [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 | KLHL20 | GO:0016567 | protein ubiquitination | 20389280 |
| Hgene | KLHL20 | GO:0043161 | proteasome-mediated ubiquitin-dependent protein catabolic process | 20389280 |
| Hgene | KLHL20 | GO:1990390 | protein K33-linked ubiquitination | 24768539 |
| 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 | READ | TCGA-AH-6549-01A | KLHL20 | chr1 | 173684793 | + | TPTE | chr21 | 10910399 | + |
| * 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 | ENST00000546011 | ENST00000415664 | KLHL20 | chr1 | 173684793 | + | TPTE | chr21 | 10910399 | + |
| intron-5UTR | ENST00000546011 | ENST00000298232 | KLHL20 | chr1 | 173684793 | + | TPTE | chr21 | 10910399 | + |
| intron-5UTR | ENST00000546011 | ENST00000342420 | KLHL20 | chr1 | 173684793 | + | TPTE | chr21 | 10910399 | + |
| intron-5UTR | ENST00000546011 | ENST00000361285 | KLHL20 | chr1 | 173684793 | + | TPTE | chr21 | 10910399 | + |
| intron-5UTR | ENST00000209884 | ENST00000415664 | KLHL20 | chr1 | 173684793 | + | TPTE | chr21 | 10910399 | + |
| intron-5UTR | ENST00000209884 | ENST00000298232 | KLHL20 | chr1 | 173684793 | + | TPTE | chr21 | 10910399 | + |
| intron-5UTR | ENST00000209884 | ENST00000342420 | KLHL20 | chr1 | 173684793 | + | TPTE | chr21 | 10910399 | + |
| intron-5UTR | ENST00000209884 | ENST00000361285 | KLHL20 | chr1 | 173684793 | + | TPTE | chr21 | 10910399 | + |
| 3UTR-5UTR | ENST00000493170 | ENST00000415664 | KLHL20 | chr1 | 173684793 | + | TPTE | chr21 | 10910399 | + |
| 3UTR-5UTR | ENST00000493170 | ENST00000298232 | KLHL20 | chr1 | 173684793 | + | TPTE | chr21 | 10910399 | + |
| 3UTR-5UTR | ENST00000493170 | ENST00000342420 | KLHL20 | chr1 | 173684793 | + | TPTE | chr21 | 10910399 | + |
| 3UTR-5UTR | ENST00000493170 | ENST00000361285 | KLHL20 | chr1 | 173684793 | + | TPTE | chr21 | 10910399 | + |
Top |
FusionProtFeatures for KLHL20_TPTE |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| KLHL20 | TPTE |
| Substrate-specific adapter of a BCR (BTB-CUL3-RBX1) E3ubiquitin-protein ligase complex involved in interferon responseand anterograde Golgi to endosome transport. The BCR(KLHL20) E3ubiquitin ligase complex mediates the ubiquitination of DAPK1,leading to its degradation by the proteasome, thereby acting as anegative regulator of apoptosis (PubMed:20389280). The BCR(KLHL20)E3 ubiquitin ligase complex also specifically mediates 'Lys-33'-linked ubiquitination (PubMed:24768539). Involved in anterogradeGolgi to endosome transport by mediating 'Lys-33'-linkedubiquitination of CORO7, promoting interaction between CORO7 andEPS15, thereby facilitating actin polymerization and post-Golgitrafficking (PubMed:24768539). Also acts as a regulator ofendothelial migration during angiogenesis by controlling theactivation of Rho GTPases. The BCR(KLHL20) E3 ubiquitin ligasecomplex acts as a regulator of neurite outgrowth by mediatingubiquitination and degradation of PDZ-RhoGEF/ARHGEF11(PubMed:21670212). In case of tumor, the BCR(KLHL20) E3 ubiquitinligase complex is involved in tumor hypoxia: following hypoxia,the BCR(KLHL20)complex mediates ubiquitination and degradation ofPML, potentiating HIF-1 signaling and cancer progression(PubMed:21840486). {ECO:0000269|PubMed:14528312,ECO:0000269|PubMed:17395875, ECO:0000269|PubMed:20389280,ECO:0000269|PubMed:21670212, ECO:0000269|PubMed:21840486,ECO:0000269|PubMed:24768539}. | Could be involved in signal transduction. |
| 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 KLHL20_TPTE |
| 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 KLHL20_TPTE |
| 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 |
| KLHL20 | ECT2, KLHL20, ACTA1, CRMP1, PIN1, C14orf1, GBP2, KIAA1377, LUC7L2, LRIF1, COPS6, DAPK1, CUL3, PML, EPAS1, PRMT6, SUV39H1, CORO7, ARHGEF12, FCGR3B, SATB2, NUFIP2, MAP7D2, USP27X, SPAG7, EIF2S2, PRIM2, HDGFRP2, MIOS, NARS, ATXN2L, FBXL17, NUDCD3, CTU2, POLDIP3, NRGN, ADSL, IPP, CNOT10, HELZ, CKAP5, PDXDC2P, PIR, KLHL26, OSBPL11, TRIM33, PCMT1, RHOA, HIF1AN, TCEA1, UBAP2, PRIM1, PICALM, GFER, RBM12, KRBA1, FAM189A2, ZBTB44, CDKL5, CRK, XPO1, IVNS1ABP, KLHL22, PCDHGA5, MAP3K13, UBE2M, CTH, TMA16, RELB, RPRD1B, HOOK3, MITF, ID2, MTNR1A | TPTE | TUBB3, LGR4, ATP2A2, EMD, ENAH, FANCD2, GCN1L1, SPAG9, TOR1AIP2, SCYL3, UBXN4, TRMT10C, EMC3, DDX54, CLCC1, VEZT, STAM2, EMC1, CKAP4, CCDC115, C19orf26, SLC38A1, VAPB, ACSL3, ADCY9, STAM, SRPR, CCDC47, TPTE, TPTE2, BZW2, WFS1, C3orf58, TMED1, TRAM1, STX18, BRI3BP, UXT, CAND2, PHB, STIP1, PHB2, VCPKMT, HEATR3, RPAP3, PIH1D1, PPP5C, SEC63, VDAC3, FAM134C, QPCTL, SGPL1, CYC1, ABCD3, ERBB3, PDGFRB, ROR2, NTRK1, PTK7, EPHA3, EPHA2, EPHA1 |
| - 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 KLHL20_TPTE |
| 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 KLHL20_TPTE |
| 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)
|