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Fusion gene ID: 22138 |
FusionGeneSummary for MLH1_GOLGA4 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: MLH1_GOLGA4 | Fusion gene ID: 22138 | Hgene | Tgene | Gene symbol | MLH1 | GOLGA4 | Gene ID | 4292 | 2803 |
| Gene name | mutL homolog 1 | golgin A4 | |
| Synonyms | COCA2|FCC2|HNPCC|HNPCC2|hMLH1 | CRPF46|GCP2|GOLG|MU-RMS-40.18|p230 | |
| Cytomap | 3p22.2 | 3p22.2 | |
| Type of gene | protein-coding | protein-coding | |
| Description | DNA mismatch repair protein Mlh1mutL homolog 1, colon cancer, nonpolyposis type 2 | golgin subfamily A member 4256 kDa golgin72.1 proteincentrosome-related protein F46golgi autoantigen, golgin subfamily a, 4golgin-240golgin-245protein 72.1trans-Golgi p230 | |
| Modification date | 20180523 | 20180519 | |
| UniProtAcc | P40692 | Q13439 | |
| Ensembl transtripts involved in fusion gene | ENST00000536378, ENST00000231790, ENST00000458205, ENST00000539477, ENST00000455445, ENST00000435176, ENST00000492474, | ENST00000361924, ENST00000435830, ENST00000444882, ENST00000356847, | |
| Fusion gene scores | * DoF score | 1 X 1 X 1=1 | 5 X 5 X 3=75 |
| # samples | 1 | 5 | |
| ** MAII score | log2(1/1*10)=3.32192809488736 | log2(5/75*10)=-0.584962500721156 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: MLH1 [Title/Abstract] AND GOLGA4 [Title/Abstract] AND fusion [Title/Abstract] | ||
| Functional or gene categories assigned by FusionGDB annotation | Tumor suppressor gene involved fusion gene, in-frame but not retained their domain. 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. DDR (DNA damage repair) gene involved fusion gene, retained protein feature but frameshift. | ||
| * 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 | GOLGA4 | GO:0043001 | Golgi to plasma membrane protein transport | 15265687 |
| Tgene | GOLGA4 | GO:0045773 | positive regulation of axon extension | 22705394 |
| 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 | BRCA | TCGA-EW-A1IZ-01A | MLH1 | chr3 | 37050396 | + | GOLGA4 | chr3 | 37376544 | + |
| * 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 |
| 5UTR-3CDS | ENST00000536378 | ENST00000361924 | MLH1 | chr3 | 37050396 | + | GOLGA4 | chr3 | 37376544 | + |
| 5UTR-intron | ENST00000536378 | ENST00000435830 | MLH1 | chr3 | 37050396 | + | GOLGA4 | chr3 | 37376544 | + |
| 5UTR-intron | ENST00000536378 | ENST00000444882 | MLH1 | chr3 | 37050396 | + | GOLGA4 | chr3 | 37376544 | + |
| 5UTR-intron | ENST00000536378 | ENST00000356847 | MLH1 | chr3 | 37050396 | + | GOLGA4 | chr3 | 37376544 | + |
| Frame-shift | ENST00000231790 | ENST00000361924 | MLH1 | chr3 | 37050396 | + | GOLGA4 | chr3 | 37376544 | + |
| 5CDS-intron | ENST00000231790 | ENST00000435830 | MLH1 | chr3 | 37050396 | + | GOLGA4 | chr3 | 37376544 | + |
| 5CDS-intron | ENST00000231790 | ENST00000444882 | MLH1 | chr3 | 37050396 | + | GOLGA4 | chr3 | 37376544 | + |
| 5CDS-intron | ENST00000231790 | ENST00000356847 | MLH1 | chr3 | 37050396 | + | GOLGA4 | chr3 | 37376544 | + |
| 5UTR-3CDS | ENST00000458205 | ENST00000361924 | MLH1 | chr3 | 37050396 | + | GOLGA4 | chr3 | 37376544 | + |
| 5UTR-intron | ENST00000458205 | ENST00000435830 | MLH1 | chr3 | 37050396 | + | GOLGA4 | chr3 | 37376544 | + |
| 5UTR-intron | ENST00000458205 | ENST00000444882 | MLH1 | chr3 | 37050396 | + | GOLGA4 | chr3 | 37376544 | + |
| 5UTR-intron | ENST00000458205 | ENST00000356847 | MLH1 | chr3 | 37050396 | + | GOLGA4 | chr3 | 37376544 | + |
| intron-3CDS | ENST00000539477 | ENST00000361924 | MLH1 | chr3 | 37050396 | + | GOLGA4 | chr3 | 37376544 | + |
| intron-intron | ENST00000539477 | ENST00000435830 | MLH1 | chr3 | 37050396 | + | GOLGA4 | chr3 | 37376544 | + |
| intron-intron | ENST00000539477 | ENST00000444882 | MLH1 | chr3 | 37050396 | + | GOLGA4 | chr3 | 37376544 | + |
| intron-intron | ENST00000539477 | ENST00000356847 | MLH1 | chr3 | 37050396 | + | GOLGA4 | chr3 | 37376544 | + |
| 5UTR-3CDS | ENST00000455445 | ENST00000361924 | MLH1 | chr3 | 37050396 | + | GOLGA4 | chr3 | 37376544 | + |
| 5UTR-intron | ENST00000455445 | ENST00000435830 | MLH1 | chr3 | 37050396 | + | GOLGA4 | chr3 | 37376544 | + |
| 5UTR-intron | ENST00000455445 | ENST00000444882 | MLH1 | chr3 | 37050396 | + | GOLGA4 | chr3 | 37376544 | + |
| 5UTR-intron | ENST00000455445 | ENST00000356847 | MLH1 | chr3 | 37050396 | + | GOLGA4 | chr3 | 37376544 | + |
| Frame-shift | ENST00000435176 | ENST00000361924 | MLH1 | chr3 | 37050396 | + | GOLGA4 | chr3 | 37376544 | + |
| 5CDS-intron | ENST00000435176 | ENST00000435830 | MLH1 | chr3 | 37050396 | + | GOLGA4 | chr3 | 37376544 | + |
| 5CDS-intron | ENST00000435176 | ENST00000444882 | MLH1 | chr3 | 37050396 | + | GOLGA4 | chr3 | 37376544 | + |
| 5CDS-intron | ENST00000435176 | ENST00000356847 | MLH1 | chr3 | 37050396 | + | GOLGA4 | chr3 | 37376544 | + |
| 3UTR-3CDS | ENST00000492474 | ENST00000361924 | MLH1 | chr3 | 37050396 | + | GOLGA4 | chr3 | 37376544 | + |
| 3UTR-intron | ENST00000492474 | ENST00000435830 | MLH1 | chr3 | 37050396 | + | GOLGA4 | chr3 | 37376544 | + |
| 3UTR-intron | ENST00000492474 | ENST00000444882 | MLH1 | chr3 | 37050396 | + | GOLGA4 | chr3 | 37376544 | + |
| 3UTR-intron | ENST00000492474 | ENST00000356847 | MLH1 | chr3 | 37050396 | + | GOLGA4 | chr3 | 37376544 | + |
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FusionProtFeatures for MLH1_GOLGA4 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| MLH1 | GOLGA4 |
| Heterodimerizes with PMS2 to form MutL alpha, acomponent of the post-replicative DNA mismatch repair system(MMR). DNA repair is initiated by MutS alpha (MSH2-MSH6) or MutSbeta (MSH2-MSH3) binding to a dsDNA mismatch, then MutL alpha isrecruited to the heteroduplex. Assembly of the MutL-MutS-heteroduplex ternary complex in presence of RFC and PCNA issufficient to activate endonuclease activity of PMS2. Itintroduces single-strand breaks near the mismatch and thusgenerates new entry points for the exonuclease EXO1 to degrade thestrand containing the mismatch. DNA methylation would preventcleavage and therefore assure that only the newly mutated DNAstrand is going to be corrected. MutL alpha (MLH1-PMS2) interactsphysically with the clamp loader subunits of DNA polymerase III,suggesting that it may play a role to recruit the DNA polymeraseIII to the site of the MMR. Also implicated in DNA damagesignaling, a process which induces cell cycle arrest and can leadto apoptosis in case of major DNA damages. Heterodimerizes withMLH3 to form MutL gamma which plays a role in meiosis.{ECO:0000269|PubMed:16873062, ECO:0000269|PubMed:18206974,ECO:0000269|PubMed:20020535, ECO:0000269|PubMed:21120944,ECO:0000269|PubMed:9311737}. | Involved in vesicular trafficking at the Golgi apparatuslevel. May play a role in delivery of transport vesiclescontaining GPI-linked proteins from the trans-Golgi networkthrough its interaction with MACF1. Involved in endosome-to-Golgitrafficking (PubMed:29084197). {ECO:0000269|PubMed:15265687,ECO:0000269|PubMed:29084197}. |
| 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 MLH1_GOLGA4 |
| 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 MLH1_GOLGA4 |
| 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 |
| MLH1 | AP2B1, TRIM29, ZC3H11A, FRMD6, UBOX5, BLM, ATM, BRCA1, MRE11A, MSH2, MSH6, NBN, RAD50, RFC1, MYC, PMS2, MLH3, PMS1, MSH4, EXO1, MBD4, BRIP1, MSH3, SMC1A, XRN1, PSD3, UBC, UBAP2L, YLPM1, PRKDC, KPNA2, KPNB1, RUVBL1, RUVBL2, FAN1, PPP2R1A, PPP2R2A, PPP2R2B, PPP3CB, PPP3CC, PPP2R2D, AIFM1, PIK3C2A, AMOT, ATAD3A, DOCK7, PYGB, ATP5A1, ATAD3B, WDR61, BARD1, BACH1, FANCD2, POLH, SPRTN, DDX47, TRIM23, PARP12, RAD23B, RAPGEFL1, ANXA6, ARAF, CAPN5, CTSB, GABARAP, MAP2K6, NDRG1, PTPRH, STAP2, TXN2, ZER1, FLNB, ACTG1, ACTG2, ANXA2, CKAP4, DES, MYL6, PARVA, SPTAN1, TMSB4X, FBXO32, SQSTM1, EIF2A, EEF1G, EEF2, NT5C3B, APRT, LGALS4, MUC2, IGKC, FCGBP, ABHD16A, ABCC3, AGR2, ALDOA, ASS1, ELP6, CAB39L, CKB, EXOC3, GSTP1, ACER3, PTGDS, SEC61A1, SELENBP1, SERPINF1, VAMP8, PCNA, MMS19, TXN, ATF2, ORC4, MYOG, PSMA1, CXorf57, SPERT, API5, SPTBN2, USP5, ZNF224, NTRK1, CAPZA2, LYST, CTTN, HDLBP, SLC25A1, PSMD6, FKBP8, INO80, PLXNA3, ELMO2, NANP, CASP3, SNW1, AES, CCDC33, CDCA7L, CEP76, KIAA1377, LY96, MAGEA8, ZBED1, HDAC6, MCM9, MCM8 | GOLGA4 | ARL1, ARL3, TRAF3IP1, EXOC1, TNIK, APP, TP63, NOL11, ZER1, SMYD2, LIMD1, CIRH1A, UBR7, HNRNPD, VHL, GEMIN5, TMEM63B, VWA9, PPM1H, PTPRN2, CCDC53, RALBP1, BMP1, NECAB2, TKT, ATP5G3, SERPINB5 |
| - 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 MLH1_GOLGA4 |
| 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 MLH1_GOLGA4 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | MLH1 | C1333991 | Hereditary Non-Polyposis Colon Cancer Type 2 | 52 | CTD_human;UNIPROT |
| Hgene | MLH1 | C1527249 | Colorectal Cancer | 6 | UNIPROT |
| Hgene | MLH1 | C0009405 | Hereditary Nonpolyposis Colorectal Neoplasms | 5 | CTD_human |
| Hgene | MLH1 | C0009404 | Colorectal Neoplasms | 3 | CTD_human |
| Hgene | MLH1 | C0265325 | Turcot syndrome (disorder) | 2 | CTD_human;ORPHANET;UNIPROT |
| Hgene | MLH1 | C0009375 | Colonic Neoplasms | 1 | CTD_human |
| Hgene | MLH1 | C0024299 | Lymphoma | 1 | CTD_human;HPO |
| Hgene | MLH1 | C0027627 | Neoplasm Metastasis | 1 | CTD_human |
| Hgene | MLH1 | C0033578 | Prostatic Neoplasms | 1 | CTD_human |
| Hgene | MLH1 | C0919267 | ovarian neoplasm | 1 | CTD_human |
| Tgene | GOLGA4 | C0033578 | Prostatic Neoplasms | 1 | CTD_human |
| Tgene | GOLGA4 | C0037274 | Dermatologic disorders | 1 | CTD_human |
| Tgene | GOLGA4 | C0311375 | Arsenic Poisoning | 1 | CTD_human |
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