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Fusion gene ID: 38419 |
FusionGeneSummary for TMEM135_CHEK1 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: TMEM135_CHEK1 | Fusion gene ID: 38419 | Hgene | Tgene | Gene symbol | TMEM135 | CHEK1 | Gene ID | 65084 | 1111 |
| Gene name | transmembrane protein 135 | checkpoint kinase 1 | |
| Synonyms | PMP52 | CHK1 | |
| Cytomap | 11q14.2 | 11q24.2 | |
| Type of gene | protein-coding | protein-coding | |
| Description | transmembrane protein 135peroxisomal membrane protein 52 | serine/threonine-protein kinase Chk1CHK1 checkpoint homologCheckpoint, S. pombe, homolog of, 1Chk1-Scell cycle checkpoint kinase | |
| Modification date | 20180519 | 20180523 | |
| UniProtAcc | Q86UB9 | O14757 | |
| Ensembl transtripts involved in fusion gene | ENST00000340353, ENST00000532959, ENST00000305494, ENST00000535167, ENST00000355734, | ENST00000438015, ENST00000427383, ENST00000428830, ENST00000532449, ENST00000544373, ENST00000534070, ENST00000524737, ENST00000278916, | |
| Fusion gene scores | * DoF score | 12 X 6 X 7=504 | 1 X 1 X 1=1 |
| # samples | 14 | 1 | |
| ** MAII score | log2(14/504*10)=-1.84799690655495 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(1/1*10)=3.32192809488736 | |
| Context | PubMed: TMEM135 [Title/Abstract] AND CHEK1 [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 | CHEK1 | GO:0000077 | DNA damage checkpoint | 16963448 |
| Tgene | CHEK1 | GO:0006915 | apoptotic process | 23028632 |
| Tgene | CHEK1 | GO:0006975 | DNA damage induced protein phosphorylation | 16963448 |
| Tgene | CHEK1 | GO:0010569 | regulation of double-strand break repair via homologous recombination | 15665856 |
| Tgene | CHEK1 | GO:0018107 | peptidyl-threonine phosphorylation | 15665856 |
| Tgene | CHEK1 | GO:0045787 | positive regulation of cell cycle | 26296656 |
| Tgene | CHEK1 | GO:0045839 | negative regulation of mitotic nuclear division | 15311285 |
| Tgene | CHEK1 | GO:0046602 | regulation of mitotic centrosome separation | 15311285 |
| 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 | BRCA | TCGA-OL-A66P-01A | TMEM135 | chr11 | 86802437 | + | CHEK1 | chr11 | 125545823 | + |
| * 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 |
| 5CDS-intron | ENST00000340353 | ENST00000438015 | TMEM135 | chr11 | 86802437 | + | CHEK1 | chr11 | 125545823 | + |
| 5CDS-intron | ENST00000340353 | ENST00000427383 | TMEM135 | chr11 | 86802437 | + | CHEK1 | chr11 | 125545823 | + |
| 5CDS-3UTR | ENST00000340353 | ENST00000428830 | TMEM135 | chr11 | 86802437 | + | CHEK1 | chr11 | 125545823 | + |
| 5CDS-intron | ENST00000340353 | ENST00000532449 | TMEM135 | chr11 | 86802437 | + | CHEK1 | chr11 | 125545823 | + |
| 5CDS-intron | ENST00000340353 | ENST00000544373 | TMEM135 | chr11 | 86802437 | + | CHEK1 | chr11 | 125545823 | + |
| 5CDS-intron | ENST00000340353 | ENST00000534070 | TMEM135 | chr11 | 86802437 | + | CHEK1 | chr11 | 125545823 | + |
| 5CDS-intron | ENST00000340353 | ENST00000524737 | TMEM135 | chr11 | 86802437 | + | CHEK1 | chr11 | 125545823 | + |
| 5CDS-intron | ENST00000340353 | ENST00000278916 | TMEM135 | chr11 | 86802437 | + | CHEK1 | chr11 | 125545823 | + |
| intron-intron | ENST00000532959 | ENST00000438015 | TMEM135 | chr11 | 86802437 | + | CHEK1 | chr11 | 125545823 | + |
| intron-intron | ENST00000532959 | ENST00000427383 | TMEM135 | chr11 | 86802437 | + | CHEK1 | chr11 | 125545823 | + |
| intron-3UTR | ENST00000532959 | ENST00000428830 | TMEM135 | chr11 | 86802437 | + | CHEK1 | chr11 | 125545823 | + |
| intron-intron | ENST00000532959 | ENST00000532449 | TMEM135 | chr11 | 86802437 | + | CHEK1 | chr11 | 125545823 | + |
| intron-intron | ENST00000532959 | ENST00000544373 | TMEM135 | chr11 | 86802437 | + | CHEK1 | chr11 | 125545823 | + |
| intron-intron | ENST00000532959 | ENST00000534070 | TMEM135 | chr11 | 86802437 | + | CHEK1 | chr11 | 125545823 | + |
| intron-intron | ENST00000532959 | ENST00000524737 | TMEM135 | chr11 | 86802437 | + | CHEK1 | chr11 | 125545823 | + |
| intron-intron | ENST00000532959 | ENST00000278916 | TMEM135 | chr11 | 86802437 | + | CHEK1 | chr11 | 125545823 | + |
| 5CDS-intron | ENST00000305494 | ENST00000438015 | TMEM135 | chr11 | 86802437 | + | CHEK1 | chr11 | 125545823 | + |
| 5CDS-intron | ENST00000305494 | ENST00000427383 | TMEM135 | chr11 | 86802437 | + | CHEK1 | chr11 | 125545823 | + |
| 5CDS-3UTR | ENST00000305494 | ENST00000428830 | TMEM135 | chr11 | 86802437 | + | CHEK1 | chr11 | 125545823 | + |
| 5CDS-intron | ENST00000305494 | ENST00000532449 | TMEM135 | chr11 | 86802437 | + | CHEK1 | chr11 | 125545823 | + |
| 5CDS-intron | ENST00000305494 | ENST00000544373 | TMEM135 | chr11 | 86802437 | + | CHEK1 | chr11 | 125545823 | + |
| 5CDS-intron | ENST00000305494 | ENST00000534070 | TMEM135 | chr11 | 86802437 | + | CHEK1 | chr11 | 125545823 | + |
| 5CDS-intron | ENST00000305494 | ENST00000524737 | TMEM135 | chr11 | 86802437 | + | CHEK1 | chr11 | 125545823 | + |
| 5CDS-intron | ENST00000305494 | ENST00000278916 | TMEM135 | chr11 | 86802437 | + | CHEK1 | chr11 | 125545823 | + |
| intron-intron | ENST00000535167 | ENST00000438015 | TMEM135 | chr11 | 86802437 | + | CHEK1 | chr11 | 125545823 | + |
| intron-intron | ENST00000535167 | ENST00000427383 | TMEM135 | chr11 | 86802437 | + | CHEK1 | chr11 | 125545823 | + |
| intron-3UTR | ENST00000535167 | ENST00000428830 | TMEM135 | chr11 | 86802437 | + | CHEK1 | chr11 | 125545823 | + |
| intron-intron | ENST00000535167 | ENST00000532449 | TMEM135 | chr11 | 86802437 | + | CHEK1 | chr11 | 125545823 | + |
| intron-intron | ENST00000535167 | ENST00000544373 | TMEM135 | chr11 | 86802437 | + | CHEK1 | chr11 | 125545823 | + |
| intron-intron | ENST00000535167 | ENST00000534070 | TMEM135 | chr11 | 86802437 | + | CHEK1 | chr11 | 125545823 | + |
| intron-intron | ENST00000535167 | ENST00000524737 | TMEM135 | chr11 | 86802437 | + | CHEK1 | chr11 | 125545823 | + |
| intron-intron | ENST00000535167 | ENST00000278916 | TMEM135 | chr11 | 86802437 | + | CHEK1 | chr11 | 125545823 | + |
| 5CDS-intron | ENST00000355734 | ENST00000438015 | TMEM135 | chr11 | 86802437 | + | CHEK1 | chr11 | 125545823 | + |
| 5CDS-intron | ENST00000355734 | ENST00000427383 | TMEM135 | chr11 | 86802437 | + | CHEK1 | chr11 | 125545823 | + |
| 5CDS-3UTR | ENST00000355734 | ENST00000428830 | TMEM135 | chr11 | 86802437 | + | CHEK1 | chr11 | 125545823 | + |
| 5CDS-intron | ENST00000355734 | ENST00000532449 | TMEM135 | chr11 | 86802437 | + | CHEK1 | chr11 | 125545823 | + |
| 5CDS-intron | ENST00000355734 | ENST00000544373 | TMEM135 | chr11 | 86802437 | + | CHEK1 | chr11 | 125545823 | + |
| 5CDS-intron | ENST00000355734 | ENST00000534070 | TMEM135 | chr11 | 86802437 | + | CHEK1 | chr11 | 125545823 | + |
| 5CDS-intron | ENST00000355734 | ENST00000524737 | TMEM135 | chr11 | 86802437 | + | CHEK1 | chr11 | 125545823 | + |
| 5CDS-intron | ENST00000355734 | ENST00000278916 | TMEM135 | chr11 | 86802437 | + | CHEK1 | chr11 | 125545823 | + |
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FusionProtFeatures for TMEM135_CHEK1 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| TMEM135 | CHEK1 |
| Involved in mitochondrial metabolism by regulating thebalance between mitochondrial fusion and fission. May act as aregulator of mitochondrial fission that promotes DNM1L-dependentfission through activation of DNM1L. May be involved in peroxisomeorganization. {ECO:0000250|UniProtKB:Q5U4F4,ECO:0000250|UniProtKB:Q9CYV5}. | Serine/threonine-protein kinase which is required forcheckpoint-mediated cell cycle arrest and activation of DNA repairin response to the presence of DNA damage or unreplicated DNA. Mayalso negatively regulate cell cycle progression during unperturbedcell cycles. This regulation is achieved by a number of mechanismsthat together help to preserve the integrity of the genome.Recognizes the substrate consensus sequence [R-X-X-S/T]. Binds toand phosphorylates CDC25A, CDC25B and CDC25C. Phosphorylation ofCDC25A at 'Ser-178' and 'Thr-507' and phosphorylation of CDC25C at'Ser-216' creates binding sites for 14-3-3 proteins which inhibitCDC25A and CDC25C. Phosphorylation of CDC25A at 'Ser-76', 'Ser-124', 'Ser-178', 'Ser-279' and 'Ser-293' promotes proteolysis ofCDC25A. Phosphorylation of CDC25A at 'Ser-76' primes the proteinfor subsequent phosphorylation at 'Ser-79', 'Ser-82' and 'Ser-88'by NEK11, which is required for polyubiquitination and degradationof CDCD25A. Inhibition of CDC25 leads to increased inhibitorytyrosine phosphorylation of CDK-cyclin complexes and blocks cellcycle progression. Also phosphorylates NEK6. Binds to andphosphorylates RAD51 at 'Thr-309', which promotes the release ofRAD51 from BRCA2 and enhances the association of RAD51 withchromatin, thereby promoting DNA repair by homologousrecombination. Phosphorylates multiple sites within the C-terminusof TP53, which promotes activation of TP53 by acetylation andpromotes cell cycle arrest and suppression of cellularproliferation. Also promotes repair of DNA cross-links throughphosphorylation of FANCE. Binds to and phosphorylates TLK1 at'Ser-743', which prevents the TLK1-dependent phosphorylation ofthe chromatin assembly factor ASF1A. This may enhance chromatinassembly both in the presence or absence of DNA damage. May alsoplay a role in replication fork maintenance through regulation ofPCNA. May regulate the transcription of genes that regulate cell-cycle progression through the phosphorylation of histones.Phosphorylates histone H3.1 (to form H3T11ph), which leads toepigenetic inhibition of a subset of genes. May also phosphorylateRB1 to promote its interaction with the E2F family oftranscription factors and subsequent cell cycle arrest. Isoform 2: Endogenous repressor of isoform 1, interactswith, and antagonizes CHK1 to promote the S to G2/M phasetransition. |
| 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 TMEM135_CHEK1 |
| 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 TMEM135_CHEK1 |
| 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 |
| TMEM135 | SMPD3 | CHEK1 | MSH2, CDC25A, CSNK2A1, SFN, CDKN1A, TP53, BLM, TP53BP1, XIAP, ATM, ATR, PRKDC, TIMELESS, CLSPN, XRCC6, XRCC5, CDC25B, CDC25C, MSH6, MDM4, NEK9, POLA1, MCPH1, XPO1, PCNA, DNMT1, DDB1, CUL4A, FANCE, USP7, MEN1, HSP90AA1, LATS2, MEPE, CUL1, COPS5, BRCA1, FEM1B, RB1, TLK1, NEK2, APP, MED15, RELA, DTL, VCP, RAD51, TOPBP1, MAPKAPK2, BTG3, PIGM, HECW2, TNRC6B, SETMAR, ZEB1, FUS, LDLRAP1, SNX11, HLA-DRB5, BCL2L14, L3HYPDH, TCEAL1, CHRNA9, HNRNPD, MAPK1, PPM1A, PTBP1, PTBP3, TARS, CDK1, RAD23A, UBA1, UBA2, SNW1, CDC5L, NFATC1, NFATC2, FANCD2, UBE2T, IGF1R, VEGFA, PTEN, MTOR, SMO, PARP1, TYMS, PIK3CA, SMARCA4, ADA, AKT1, VHL, CASP8, ARID1A, MAP2K1, CDK9, SRC, MET, NAT9, ERCC6L, IL13RA2, LRRC6, PLA2G10, CTSE, RACGAP1, UNC5CL, VAV1, NELL1, KCTD3, KIF13B, ZBTB21, KSR1, GIGYF1, LRFN1, DENND1A, SH3PXD2A, SRGAP2, EIF4E2, CBY1, CHEK2, WEE1, CDC6, CDC73, RFC1, RAD17, FZR1, ATAD5, LLGL1, CDC14A, RPS10, WRN, DAAM1, TTN, BRD4, TOP1, TOP2A, TOP3A, DHFR, SMARCC1, TUSC3, TCEA1, FHIT, USP11, IMPDH1, TUBA1A, NBN, BCL2L1 |
| - 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 TMEM135_CHEK1 |
| 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 TMEM135_CHEK1 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | TMEM135 | C3714756 | Intellectual Disability | 1 | CTD_human |
| Tgene | CHEK1 | C0032578 | Polyploidy | 1 | CTD_human |
| Tgene | CHEK1 | C0036341 | Schizophrenia | 1 | PSYGENET |
| Tgene | CHEK1 | C1458155 | Mammary Neoplasms | 1 | CTD_human |
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