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Fusion gene ID: 21433 |
FusionGeneSummary for MECP2_F8 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: MECP2_F8 | Fusion gene ID: 21433 | Hgene | Tgene | Gene symbol | MECP2 | F8 | Gene ID | 4204 | 2157 |
| Gene name | methyl-CpG binding protein 2 | coagulation factor VIII | |
| Synonyms | AUTSX3|MRX16|MRX79|MRXS13|MRXSL|PPMX|RS|RTS|RTT | AHF|DXS1253E|F8B|F8C|FVIII|HEMA | |
| Cytomap | Xq28 | Xq28 | |
| Type of gene | protein-coding | protein-coding | |
| Description | methyl-CpG-binding protein 2meCp-2 proteintestis tissue sperm-binding protein Li 41a | coagulation factor VIIIantihemophilic factorcoagulation factor VIII A1 domaincoagulation factor VIII C2 domaincoagulation factor VIII, procoagulant componentcoagulation factor VIIIcfactor VIII F8B | |
| Modification date | 20180527 | 20180527 | |
| UniProtAcc | P51608 | P00451 | |
| Ensembl transtripts involved in fusion gene | ENST00000303391, ENST00000453960, ENST00000407218, ENST00000460227, | ENST00000360256, ENST00000330287, ENST00000483822, | |
| Fusion gene scores | * DoF score | 3 X 3 X 2=18 | 4 X 4 X 4=64 |
| # samples | 3 | 4 | |
| ** MAII score | log2(3/18*10)=0.736965594166206 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | log2(4/64*10)=-0.678071905112638 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: MECP2 [Title/Abstract] AND F8 [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 | MECP2 | GO:0010629 | negative regulation of gene expression | 23960241 |
| Hgene | MECP2 | GO:0043537 | negative regulation of blood vessel endothelial cell migration | 23960241 |
| Hgene | MECP2 | GO:0045892 | negative regulation of transcription, DNA-templated | 11441023 |
| Hgene | MECP2 | GO:1905643 | positive regulation of DNA methylation | 23960241 |
| 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 | LIHC | TCGA-K7-AAU7-01A | MECP2 | chrX | 153357642 | - | F8 | chrX | 154185446 | - |
| * 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 | ENST00000303391 | ENST00000360256 | MECP2 | chrX | 153357642 | - | F8 | chrX | 154185446 | - |
| 5CDS-intron | ENST00000303391 | ENST00000330287 | MECP2 | chrX | 153357642 | - | F8 | chrX | 154185446 | - |
| 5CDS-intron | ENST00000303391 | ENST00000483822 | MECP2 | chrX | 153357642 | - | F8 | chrX | 154185446 | - |
| intron-3CDS | ENST00000453960 | ENST00000360256 | MECP2 | chrX | 153357642 | - | F8 | chrX | 154185446 | - |
| intron-intron | ENST00000453960 | ENST00000330287 | MECP2 | chrX | 153357642 | - | F8 | chrX | 154185446 | - |
| intron-intron | ENST00000453960 | ENST00000483822 | MECP2 | chrX | 153357642 | - | F8 | chrX | 154185446 | - |
| Frame-shift | ENST00000407218 | ENST00000360256 | MECP2 | chrX | 153357642 | - | F8 | chrX | 154185446 | - |
| 5CDS-intron | ENST00000407218 | ENST00000330287 | MECP2 | chrX | 153357642 | - | F8 | chrX | 154185446 | - |
| 5CDS-intron | ENST00000407218 | ENST00000483822 | MECP2 | chrX | 153357642 | - | F8 | chrX | 154185446 | - |
| intron-3CDS | ENST00000460227 | ENST00000360256 | MECP2 | chrX | 153357642 | - | F8 | chrX | 154185446 | - |
| intron-intron | ENST00000460227 | ENST00000330287 | MECP2 | chrX | 153357642 | - | F8 | chrX | 154185446 | - |
| intron-intron | ENST00000460227 | ENST00000483822 | MECP2 | chrX | 153357642 | - | F8 | chrX | 154185446 | - |
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FusionProtFeatures for MECP2_F8 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| MECP2 | F8 |
| Chromosomal protein that binds to methylated DNA. It canbind specifically to a single methyl-CpG pair. It is notinfluenced by sequences flanking the methyl-CpGs. Mediatestranscriptional repression through interaction with histonedeacetylase and the corepressor SIN3A. Binds both 5-methylcytosine(5mC) and 5-hydroxymethylcytosine (5hmC)-containing DNA, with apreference for 5-methylcytosine (5mC).{ECO:0000250|UniProtKB:Q9Z2D6}. | Factor VIII, along with calcium and phospholipid, actsas a cofactor for F9/factor IXa when it converts F10/factor X tothe activated form, factor Xa. |
| 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 MECP2_F8 |
| 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 MECP2_F8 |
| 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 |
| MECP2 | PRPF40A, HMGB1, SKI, NCOR1, SIN3A, GTF2B, RCOR1, SUV39H1, HIST2H3A, DNMT1, HDAC1, PRPF40B, SPI1, SP1, SMARCA2, SMARCE1, SMARCB1, RBPJ, LBR, CBX5, CDKL5, YBX1, SP3, SOX2, YY1, TERF2, PPARG, ELAVL1, SMC3, CBX1, CBX3, HIST2H2AC, HIST2H2BE, HIST2H3C, HIST1H4F, XPC, CAT, HPDL, HIPK2, SOX18, HECW2, RNF4, SCARNA22, HIST1H2BG, HIST1H3A, CDC42, PLK1, AP4S1, EXOSC4, CHMP4B, H2AFY, CREB1, MAX, TEAD2, FOXC1, FOXE1, FOXI2, DNMT3L, HIST2H2BF, NOL8, EIF2AK2, URB1, C18orf21, TAF1D, RRP7A, NSD1, KPNA4, CENPV, URB2, HIST1H1T, C10orf2, KPNA3, PDCD11, DDX51, SRBD1, TFB1M, BAZ1A, ZNF800, GTPBP10, BLM, TRIP12, CHMP1A, RBAK, ITGB3BP, C3orf17, TEX10, TRMT1L, GTPBP4, ZCCHC17, TAF1B, RPL13, WDR36, PWP2, CEBPZ, HIRA, NOP2, DDX54, GNL2, MKI67, MINA, DGCR8, RPL18, FCF1, RPS8, METAP2, DDX31, TAF1A, DDX24, RPL7A, NOL6, RPL8, RPP40, RPL10A, NOC2L, MYBBP1A, RPF2, ZNF483, NVL, LENG8, TAF1C, NAT10, SRSF8, RPL3, RPLP2, ESF1, RPL36, BBX, C11orf57, BRIX1, RPL32, RPL29, RPL12, RRP1B, ZNF593, DDX56, ZNF354A, RBM28, RPL26L1, RPL15, RRP8, NLE1, RPL27, RPL5, TOP3A, FXR2, C9orf114, NOP16, SDAD1, DDX21, RPL17 | F8 | PHYH, LMAN1, VWF, LRP1, F10, CANX, PROS1, GGA1, UBQLN1, CALR, TSC22D2 |
| - 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 MECP2_F8 |
| 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 |
| Tgene | F8 | P00451 | DB00100 | Coagulation Factor IX (Recombinant) | Coagulation factor VIII | biotech | approved|investigational |
| Tgene | F8 | P00451 | DB13133 | Von Willebrand Factor Human | Coagulation factor VIII | biotech | approved|investigational |
| Tgene | F8 | P00451 | DB13151 | Anti-inhibitor coagulant complex | Coagulation factor VIII | biotech | approved|investigational |
| Tgene | F8 | P00451 | DB00055 | Drotrecogin alfa | Coagulation factor VIII | biotech | approved|investigational|withdrawn |
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RelatedDiseases for MECP2_F8 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | MECP2 | C0035372 | Rett Syndrome | 35 | CTD_human;ORPHANET;UNIPROT |
| Hgene | MECP2 | C1968550 | Mental Retardation, X-Linked, Syndromic 13 | 9 | CTD_human;ORPHANET;UNIPROT |
| Hgene | MECP2 | C0004352 | Autistic Disorder | 3 | CTD_human;HPO |
| Hgene | MECP2 | C3714756 | Intellectual Disability | 2 | CTD_human;HPO |
| Hgene | MECP2 | C0003469 | Anxiety Disorders | 1 | CTD_human |
| Hgene | MECP2 | C0008073 | Developmental Disabilities | 1 | CTD_human |
| Hgene | MECP2 | C0008074 | Child Development Disorders, Pervasive | 1 | CTD_human |
| Hgene | MECP2 | C0023186 | Learning Disorders | 1 | CTD_human |
| Hgene | MECP2 | C0026827 | Muscle hypotonia | 1 | CTD_human |
| Hgene | MECP2 | C0027066 | Myoclonus | 1 | CTD_human;HPO |
| Hgene | MECP2 | C0033922 | Psychomotor Disorders | 1 | CTD_human |
| Hgene | MECP2 | C0034069 | Pulmonary Fibrosis | 1 | CTD_human |
| Hgene | MECP2 | C0035229 | Respiratory Insufficiency | 1 | CTD_human;HPO |
| Hgene | MECP2 | C0036572 | Seizures | 1 | CTD_human;HPO |
| Hgene | MECP2 | C0236736 | Cocaine-Related Disorders | 1 | CTD_human |
| Hgene | MECP2 | C0376634 | Craniofacial Abnormalities | 1 | CTD_human |
| Hgene | MECP2 | C2239176 | Liver carcinoma | 1 | CTD_human |
| Tgene | F8 | C0019069 | Hemophilia A | 62 | CTD_human;UNIPROT |
| Tgene | F8 | C0004364 | Autoimmune Diseases | 1 | CTD_human |
| Tgene | F8 | C0042487 | Venous Thrombosis | 1 | CTD_human |
| Tgene | F8 | C0272325 | Factor 8 deficiency, acquired | 1 | CTD_human |
| Tgene | F8 | C0398623 | Thrombophilia | 1 | CTD_human |
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