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Fusion gene ID: 22203 |
FusionGeneSummary for MMD_HDAC5 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: MMD_HDAC5 | Fusion gene ID: 22203 | Hgene | Tgene | Gene symbol | MMD | HDAC5 | Gene ID | 23531 | 10014 |
| Gene name | monocyte to macrophage differentiation associated | histone deacetylase 5 | |
| Synonyms | MMA|MMD1|PAQR11 | HD5|NY-CO-9 | |
| Cytomap | 17q22 | 17q21.31 | |
| Type of gene | protein-coding | protein-coding | |
| Description | monocyte to macrophage differentiation factormacrophage maturation-associatedmonocyte to macrophage differentiation proteinprogestin and adipoQ receptor family member 11progestin and adipoQ receptor family member XI | histone deacetylase 5antigen NY-CO-9 | |
| Modification date | 20180519 | 20180522 | |
| UniProtAcc | Q15546 | Q9UQL6 | |
| Ensembl transtripts involved in fusion gene | ENST00000262065, ENST00000577038, | ENST00000225983, ENST00000393622, ENST00000336057, ENST00000586802, | |
| Fusion gene scores | * DoF score | 5 X 2 X 3=30 | 8 X 5 X 7=280 |
| # samples | 5 | 8 | |
| ** MAII score | log2(5/30*10)=0.736965594166206 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | log2(8/280*10)=-1.8073549220576 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: MMD [Title/Abstract] AND HDAC5 [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 | MMD | GO:0032880 | regulation of protein localization | 21968647 |
| Hgene | MMD | GO:0045666 | positive regulation of neuron differentiation | 21968647 |
| Hgene | MMD | GO:0045860 | positive regulation of protein kinase activity | 21968647 |
| Tgene | HDAC5 | GO:0000122 | negative regulation of transcription by RNA polymerase II | 16236793 |
| Tgene | HDAC5 | GO:0016575 | histone deacetylation | 10869435 |
| 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-V5-A7RE-01A | MMD | chr17 | 53499031 | - | HDAC5 | chr17 | 42165966 | - |
| * 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 | ENST00000262065 | ENST00000225983 | MMD | chr17 | 53499031 | - | HDAC5 | chr17 | 42165966 | - |
| Frame-shift | ENST00000262065 | ENST00000393622 | MMD | chr17 | 53499031 | - | HDAC5 | chr17 | 42165966 | - |
| Frame-shift | ENST00000262065 | ENST00000336057 | MMD | chr17 | 53499031 | - | HDAC5 | chr17 | 42165966 | - |
| Frame-shift | ENST00000262065 | ENST00000586802 | MMD | chr17 | 53499031 | - | HDAC5 | chr17 | 42165966 | - |
| 5UTR-3CDS | ENST00000577038 | ENST00000225983 | MMD | chr17 | 53499031 | - | HDAC5 | chr17 | 42165966 | - |
| 5UTR-3CDS | ENST00000577038 | ENST00000393622 | MMD | chr17 | 53499031 | - | HDAC5 | chr17 | 42165966 | - |
| 5UTR-3CDS | ENST00000577038 | ENST00000336057 | MMD | chr17 | 53499031 | - | HDAC5 | chr17 | 42165966 | - |
| 5UTR-3CDS | ENST00000577038 | ENST00000586802 | MMD | chr17 | 53499031 | - | HDAC5 | chr17 | 42165966 | - |
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FusionProtFeatures for MMD_HDAC5 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| MMD | HDAC5 |
| Involved in the dynamics of lysosomal membranesassociated with microglial activation following brain lesion.{ECO:0000250}. | Responsible for the deacetylation of lysine residues onthe N-terminal part of the core histones (H2A, H2B, H3 and H4).Histone deacetylation gives a tag for epigenetic repression andplays an important role in transcriptional regulation, cell cycleprogression and developmental events. Histone deacetylases act viathe formation of large multiprotein complexes. Involved in musclematuration by repressing transcription of myocyte enhancer MEF2C.During muscle differentiation, it shuttles into the cytoplasm,allowing the expression of myocyte enhancer factors. Involved inthe MTA1-mediated epigenetic regulation of ESR1 expression inbreast cancer. {ECO:0000269|PubMed:24413532}. |
| 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 MMD_HDAC5 |
| 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 MMD_HDAC5 |
| 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 |
| MMD | ELAVL1 | HDAC5 | ZBTB16, YWHAQ, PRKD1, CTBP1, NRIP1, GATA1, MEF2D, GATA2, TAB2, HDAC3, NCOR1, TBL1X, GPS2, BCL6, IKZF1, IKZF3, IKZF2, IKZF4, NCOR2, MEF2A, YWHAB, YWHAE, SUV39H1, EEF1G, GABARAP, HR, PKN2, PKN1, RUNX2, HIF1A, ESR1, GATA3, SMAD7, HOXC11, MAFF, YWHAG, REST, SIN3A, MARK3, KLF4, YY1, CAMK1, CAMTA2, GCM1, NUP214, GNB1, UBE2I, SMAD3, RFXANK, ANKRA2, CIITA, PPP2CA, DYRK1B, NFKBIA, NFKBIE, HDAC5, HDAC4, CAMK2A, TBX3, SLC2A4RG, MEF2C, HDAC7, PRKAB1, PHB2, MYEF2, AHRR, H3F3A, NR2E1, BCORL1, NFATC1, PRKCD, RBM25, TBL1XR1, HDAC1, RBBP7, RBBP4, MTA2, PRKD2, PPP2R1A, PPP2R2A, YWHAH, YWHAZ, PRKDC, TP53, TUBB, TUBA1A, HSP90AB1, RBM39, HSPA1A, HNRNPA2B1, NUMA1, HIST4H4, HIST2H2AC, HIST1H2BK, HIST3H3, PRKD3, RAD50, MAP1B, USP9X, USP7, IARS, PSMA5, PRPF39, HCFC1, RUVBL1, BAG2, CCAR2, UPF1, PSMC5, NUDC, GCN1L1, PSMD11, NEU1, CDK1, SF3A1, PSMC6, LTA4H, ETFA, COPB2, PCMT1, TNPO1, CSNK2A1, OGT, PGAM5, SF3B1, PSMD1, WDR5, GOT2, XPOT, RPL9, PRMT1, EIF3L, CAND1, DDX20, AHCY, HSD17B10, PPP2CB, LGALS3BP, SMC1A, STRAP, RPN2, DDOST, PSMD2, PSMC4, SF3B2, ECH1, TPI1, PSMD6, TUFM, PSMD3, PCNA, CS, SLC25A11, RAN, HSP90B1, RPL7, UQCRC2, SF3B3, RPL13, PRMT5, PHB, SMC3, RPL10A, LDHA, MDH2, PSMB5, HSPD1, HNRNPF, DDB1, SFXN1, ATP5A1, FLNA, OAT, VDAC1, HSPA4, TRAP1, ATP5B, PPP2R2D, RPN1, MTHFD1, PDIA6, PHGDH, CCT2, NME1, LARS, PCBP2, ALDOA, TRIM28, GANAB, ACTN4, HSP90AA1, DARS, ATP1A1, CANX, PGK1, P4HB, RPS8, RPLP0, CCT6A, PRPF19, HNRNPH2, PA2G4, FXR1, LRPPRC, VDAC2, CSE1L, PKM, RPL3, PRDX3, ACAT1, COPB1, DNAJB11, EIF4A3, PPIA, C1QBP, MCM3, TCP1, MCM4, IMPDH2, RPSA, EIF4A1, CCT7, DDX39B, ATP2A2, MCM2, IRS4, SLC25A1, EPRS, SLC25A3, PRDX4, EIF3F, EIF3C, XRCC5, RUVBL2, NFS1, HNRNPLL, PRPF8, CLTC, CCT4, EFTUD2, CCT5, GLUD1, XRCC6, MARS, XPO1, UBA1, TARS, RPS3A, FASN, KPNB1, MCM6, ACLY, SRSF1, HNRNPD, SLC25A6, CCT8, CAD, NPEPPS, CCT3, TUBB4B, EIF3B, PRDX6, ILF2, CDC5L, SHMT2, DNAJA1, PTBP1, HSPA9, RPS11, APLP2, DHX15, RPL5, RPS3, RARS, CKB, ALDH18A1, PPP1CA, NONO, SNRNP200, DDX1, VCP, HSPA5, DDX17, RPL7A, TKT, PABPC1, MCM5, TFRC, EMD, QARS, MCM7, RPS4X, RPL4, CKMT1B, NUP93, HNRNPL, SFPQ, RBM14, PARP1, ADAR, ILF3, NPM1, DHX9, HIST1H1C, IGF2BP1, DDX3X, MYH9, HNRNPA1, HADHA, HNRNPA3, DDX47, HNRNPR, NOP2, RBMX, TOP1, NFKB1, SF1, KDM5B, BRMS1, SIK2, PRKAA1, JDP2, ATF3, ZBTB7B, SIK1, SFN, APPL1, MYCN, SIK3, AURKB, CEP250, HAUS2, GNB2, DDIT3, HIST1H3A, LTBR, CUL7, RUNX3, TFEB, KCTD3, KIF13B, CGN, ZBTB21, KSR1, CBY1 |
| - 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 MMD_HDAC5 |
| 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 MMD_HDAC5 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Tgene | HDAC5 | C0011570 | Mental Depression | 2 | PSYGENET |
| Tgene | HDAC5 | C0011581 | Depressive disorder | 2 | PSYGENET |
| Tgene | HDAC5 | C0001546 | Adjustment Disorders | 1 | CTD_human |
| Tgene | HDAC5 | C0041696 | Unipolar Depression | 1 | PSYGENET |
| Tgene | HDAC5 | C0236736 | Cocaine-Related Disorders | 1 | CTD_human |
| Tgene | HDAC5 | C0340543 | Familial primary pulmonary hypertension | 1 | CTD_human |
| Tgene | HDAC5 | C1269683 | Major Depressive Disorder | 1 | PSYGENET |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
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