FusionGDB Logo

Home

Download

Statistics

Examples

Help

Contact

Center for Computational Systems Medicine
leaf

FusionGeneSummary

leaf

FusionProtFeature

leaf

FusionGeneSequence

leaf

FusionGenePPI

leaf

RelatedDrugs

leaf

RelatedDiseases

Fusion gene ID: 21433

FusionGeneSummary for MECP2_F8

check button Fusion gene summary
Fusion gene informationFusion gene name: MECP2_F8
Fusion gene ID: 21433
HgeneTgene
Gene symbol

MECP2

F8

Gene ID

4204

2157

Gene namemethyl-CpG binding protein 2coagulation factor VIII
SynonymsAUTSX3|MRX16|MRX79|MRXS13|MRXSL|PPMX|RS|RTS|RTTAHF|DXS1253E|F8B|F8C|FVIII|HEMA
Cytomap

Xq28

Xq28

Type of geneprotein-codingprotein-coding
Descriptionmethyl-CpG-binding protein 2meCp-2 proteintestis tissue sperm-binding protein Li 41acoagulation factor VIIIantihemophilic factorcoagulation factor VIII A1 domaincoagulation factor VIII C2 domaincoagulation factor VIII, procoagulant componentcoagulation factor VIIIcfactor VIII F8B
Modification date2018052720180527
UniProtAcc

P51608

P00451

Ensembl transtripts involved in fusion geneENST00000303391, ENST00000453960, 
ENST00000407218, ENST00000460227, 
ENST00000360256, ENST00000330287, 
ENST00000483822, 
Fusion gene scores* DoF score3 X 3 X 2=184 X 4 X 4=64
# samples 34
** MAII scorelog2(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)

check button Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez
PartnerGeneGO IDGO termPubMed ID
HgeneMECP2

GO:0010629

negative regulation of gene expression

23960241

HgeneMECP2

GO:0043537

negative regulation of blood vessel endothelial cell migration

23960241

HgeneMECP2

GO:0045892

negative regulation of transcription, DNA-templated

11441023

HgeneMECP2

GO:1905643

positive regulation of DNA methylation

23960241


check button 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 typeSourceCancer typeSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
TCGARVLIHCTCGA-K7-AAU7-01AMECP2chrX

153357642

-F8chrX

154185446

-
* LD: Li Ding group's fusion gene list
  RV: Roel Verhaak group's fusion gene list
  ChiTaRs fusion database

check button 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.
ORFHenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrand
Frame-shitENST00000303391ENST00000360256MECP2chrX

153357642

-F8chrX

154185446

-
5CDS-intronENST00000303391ENST00000330287MECP2chrX

153357642

-F8chrX

154185446

-
5CDS-intronENST00000303391ENST00000483822MECP2chrX

153357642

-F8chrX

154185446

-
intron-3CDSENST00000453960ENST00000360256MECP2chrX

153357642

-F8chrX

154185446

-
intron-intronENST00000453960ENST00000330287MECP2chrX

153357642

-F8chrX

154185446

-
intron-intronENST00000453960ENST00000483822MECP2chrX

153357642

-F8chrX

154185446

-
Frame-shitENST00000407218ENST00000360256MECP2chrX

153357642

-F8chrX

154185446

-
5CDS-intronENST00000407218ENST00000330287MECP2chrX

153357642

-F8chrX

154185446

-
5CDS-intronENST00000407218ENST00000483822MECP2chrX

153357642

-F8chrX

154185446

-
intron-3CDSENST00000460227ENST00000360256MECP2chrX

153357642

-F8chrX

154185446

-
intron-intronENST00000460227ENST00000330287MECP2chrX

153357642

-F8chrX

154185446

-
intron-intronENST00000460227ENST00000483822MECP2chrX

153357642

-F8chrX

154185446

-

Top

FusionProtFeatures for MECP2_F8


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
MECP2

P51608

F8

P00451

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.

check buttonRetention 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

download page

.

* 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.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note


Top

FusionGeneSequence for MECP2_F8


check button 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 MECP2_F8


check button Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in

ChiPPI page

.

check button Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160)
HgeneHgene's interactorsTgeneTgene's interactors
MECP2PRPF40A, 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, RPL17F8PHYH, LMAN1, VWF, LRP1, F10, CANX, PROS1, GGA1, UBQLN1, CALR, TSC22D2


check button - Retained PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenStill interaction with


check button - Lost PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


check button - Retained PPIs, but lost function due to frame-shift fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


Top

RelatedDrugs for MECP2_F8


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
TgeneF8P00451DB00100Coagulation Factor IX (Recombinant)Coagulation factor VIIIbiotechapproved|investigational
TgeneF8P00451DB13133Von Willebrand Factor HumanCoagulation factor VIIIbiotechapproved|investigational
TgeneF8P00451DB13151Anti-inhibitor coagulant complexCoagulation factor VIIIbiotechapproved|investigational
TgeneF8P00451DB00055Drotrecogin alfaCoagulation factor VIIIbiotechapproved|investigational|withdrawn

Top

RelatedDiseases for MECP2_F8


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneMECP2C0035372Rett Syndrome35CTD_human;ORPHANET;UNIPROT
HgeneMECP2C1968550Mental Retardation, X-Linked, Syndromic 139CTD_human;ORPHANET;UNIPROT
HgeneMECP2C0004352Autistic Disorder3CTD_human;HPO
HgeneMECP2C3714756Intellectual Disability2CTD_human;HPO
HgeneMECP2C0003469Anxiety Disorders1CTD_human
HgeneMECP2C0008073Developmental Disabilities1CTD_human
HgeneMECP2C0008074Child Development Disorders, Pervasive1CTD_human
HgeneMECP2C0023186Learning Disorders1CTD_human
HgeneMECP2C0026827Muscle hypotonia1CTD_human
HgeneMECP2C0027066Myoclonus1CTD_human;HPO
HgeneMECP2C0033922Psychomotor Disorders1CTD_human
HgeneMECP2C0034069Pulmonary Fibrosis1CTD_human
HgeneMECP2C0035229Respiratory Insufficiency1CTD_human;HPO
HgeneMECP2C0036572Seizures1CTD_human;HPO
HgeneMECP2C0236736Cocaine-Related Disorders1CTD_human
HgeneMECP2C0376634Craniofacial Abnormalities1CTD_human
HgeneMECP2C2239176Liver carcinoma1CTD_human
TgeneF8C0019069Hemophilia A62CTD_human;UNIPROT
TgeneF8C0004364Autoimmune Diseases1CTD_human
TgeneF8C0042487Venous Thrombosis1CTD_human
TgeneF8C0272325Factor 8 deficiency, acquired1CTD_human
TgeneF8C0398623Thrombophilia1CTD_human