|
||||||
|
 | |
| |
| |
| |
| |
|
Fusion gene ID: 22727 |
FusionGeneSummary for MTCH2_RAG2 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: MTCH2_RAG2 | Fusion gene ID: 22727 | Hgene | Tgene | Gene symbol | MTCH2 | RAG2 | Gene ID | 23788 | 5897 |
| Gene name | mitochondrial carrier 2 | recombination activating 2 | |
| Synonyms | HSPC032|MIMP|SLC25A50 | RAG-2 | |
| Cytomap | 11p11.2 | 11p12 | |
| Type of gene | protein-coding | protein-coding | |
| Description | mitochondrial carrier homolog 22310034D24Rikmet-induced mitochondrial proteinsolute carrier family 25, member 50 | V(D)J recombination-activating protein 2recombination activating gene 2 | |
| Modification date | 20180523 | 20180523 | |
| UniProtAcc | Q9Y6C9 | P55895 | |
| Ensembl transtripts involved in fusion gene | ENST00000302503, ENST00000542981, ENST00000534074, | ENST00000311485, ENST00000528428, | |
| Fusion gene scores | * DoF score | 6 X 4 X 4=96 | 1 X 1 X 1=1 |
| # samples | 6 | 1 | |
| ** MAII score | log2(6/96*10)=-0.678071905112638 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(1/1*10)=3.32192809488736 | |
| Context | PubMed: MTCH2 [Title/Abstract] AND RAG2 [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 |
| 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-A8-A06U-01A | MTCH2 | chr11 | 47652107 | - | RAG2 | chr11 | 36615745 | - |
| * 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-5UTR | ENST00000302503 | ENST00000311485 | MTCH2 | chr11 | 47652107 | - | RAG2 | chr11 | 36615745 | - |
| 5CDS-intron | ENST00000302503 | ENST00000528428 | MTCH2 | chr11 | 47652107 | - | RAG2 | chr11 | 36615745 | - |
| 5CDS-5UTR | ENST00000542981 | ENST00000311485 | MTCH2 | chr11 | 47652107 | - | RAG2 | chr11 | 36615745 | - |
| 5CDS-intron | ENST00000542981 | ENST00000528428 | MTCH2 | chr11 | 47652107 | - | RAG2 | chr11 | 36615745 | - |
| intron-5UTR | ENST00000534074 | ENST00000311485 | MTCH2 | chr11 | 47652107 | - | RAG2 | chr11 | 36615745 | - |
| intron-intron | ENST00000534074 | ENST00000528428 | MTCH2 | chr11 | 47652107 | - | RAG2 | chr11 | 36615745 | - |
Top |
FusionProtFeatures for MTCH2_RAG2 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| MTCH2 | RAG2 |
| The substrate transported is not yet known. Inducesmitochondrial depolarization. | Core component of the RAG complex, a multiproteincomplex that mediates the DNA cleavage phase during V(D)Jrecombination. V(D)J recombination assembles a diverse repertoireof immunoglobulin and T-cell receptor genes in developing B and T-lymphocytes through rearrangement of different V (variable), insome cases D (diversity), and J (joining) gene segments. DNAcleavage by the RAG complex occurs in 2 steps: a first nick isintroduced in the top strand immediately upstream of the heptamer,generating a 3'-hydroxyl group that can attack the phosphodiesterbond on the opposite strand in a direct transesterificationreaction, thereby creating 4 DNA ends: 2 hairpin coding ends and 2blunt, 5'-phosphorylated ends. The chromatin structure plays anessential role in the V(D)J recombination reactions and thepresence of histone H3 trimethylated at 'Lys-4' (H3K4me3)stimulates both the nicking and haipinning steps. The RAG complexalso plays a role in pre-B cell allelic exclusion, a processleading to expression of a single immunoglobulin heavy chainallele to enforce clonality and monospecific recognition by the B-cell antigen receptor (BCR) expressed on individual B-lymphocytes.The introduction of DNA breaks by the RAG complex on oneimmunoglobulin allele induces ATM-dependent repositioning of theother allele to pericentromeric heterochromatin, preventingaccessibility to the RAG complex and recombination of the secondallele. In the RAG complex, RAG2 is not the catalytic componentbut is required for all known catalytic activities mediated byRAG1. It probably acts as a sensor of chromatin state thatrecruits the RAG complex to H3K4me3 (By similarity).{ECO:0000250}. |
| 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 MTCH2_RAG2 |
| 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 MTCH2_RAG2 |
| 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 |
| MTCH2 | UBC, ESR1, HNRNPU, FMNL1, XRN1, FBXO6, RNF2, RIC3, HCCS, CACNG2, SUCNR1, LYPD3, PLIN3, WNT4, SLC38A6, FAM219B, NTRK1, ALDH3A2, ATP1A1, ATP2A2, ATP5C1, ATP6V0D1, CLTC, GNAI2, MRPL37, ATP1B1, ATP1B3, ATP5A1, ATP5B, ATP5F1, ATP5L, ATP5O, LMAN1, NDUFB5, SLC25A3, TOMM40, NDUFA12, NDUFA2, NDUFA6, NDUFB8, NDUFB9, NDUFS1, NDUFS2, NDUFS3, PHB, PHB2, RAB1A, RPN1, SDHB, SDHC, SGPL1, TOMM22, UQCRC2, VDAC1, VDAC2, VDAC3, OFD1, MCM2, UBXN8, COQ9, NDUFA4, CHCHD10, C15orf48, OCIAD1, PTPMT1, OPA3, ADCK1, APOOL, GLP1R, DUSP21, DUSP22, DUSP23, DUSP4, SLC7A1, IMPDH1, CD97, CD44, PVR, TMEM206, VAC14, SPPL2B, BCAM, SLC1A5, PTPN5, PDHA1 | RAG2 | RAG1, SKP2, VPRBP, DDB1, IPO5 |
| - 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 MTCH2_RAG2 |
| 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 MTCH2_RAG2 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | MTCH2 | C0028754 | Obesity | 1 | CTD_human |
| Tgene | RAG2 | C0400966 | Non-alcoholic Fatty Liver Disease | 1 | CTD_human |
| Tgene | RAG2 | C0993582 | Arthritis, Experimental | 1 | CTD_human |
| Tgene | RAG2 | C2673536 | Combined Cellular And Humoral Immune Defects With Granulomas | 1 | CTD_human;ORPHANET;UNIPROT |
| Tgene | RAG2 | C2700553 | Omenn Syndrome | 1 | ORPHANET;UNIPROT |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
|