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Fusion gene ID: 38786 |
FusionGeneSummary for TMSB4X_SC5D |
Fusion gene summary |
Fusion gene information | Fusion gene name: TMSB4X_SC5D | Fusion gene ID: 38786 | Hgene | Tgene | Gene symbol | TMSB4X | SC5D | Gene ID | 7114 | 6309 |
Gene name | thymosin beta 4 X-linked | sterol-C5-desaturase | |
Synonyms | FX|PTMB4|TB4X|TMSB4 | ERG3|S5DES|SC5DL | |
Cytomap | Xp22.2 | 11q23.3-q24.1 | |
Type of gene | protein-coding | protein-coding | |
Description | thymosin beta-4prothymosin beta-4t beta-4thymosin, beta 4, X chromosome | lathosterol oxidase3beta-hydroxysteroid-delta5-desaturaseC-5 sterol desaturasedelta(7)-sterol 5-desaturasedelta(7)-sterol C5(6)-desaturasefungal ERG3, delta-5-desaturase-likelathosterol 5-desaturaselathosterol dehydrogenasesterol-C5-desaturase (ER | |
Modification date | 20180523 | 20180523 | |
UniProtAcc | P62328 | O75845 | |
Ensembl transtripts involved in fusion gene | ENST00000451311, ENST00000380636, ENST00000380635, ENST00000380633, | ENST00000264027, ENST00000534230, ENST00000392789, ENST00000528991, | |
Fusion gene scores | * DoF score | 4 X 4 X 2=32 | 3 X 3 X 3=27 |
# samples | 4 | 3 | |
** MAII score | log2(4/32*10)=0.321928094887362 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | log2(3/27*10)=0.15200309344505 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | |
Context | PubMed: TMSB4X [Title/Abstract] AND SC5D [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 | TMSB4X | GO:0042989 | sequestering of actin monomers | 1447300|1999398 |
Hgene | TMSB4X | GO:0043536 | positive regulation of blood vessel endothelial cell migration | 21106936 |
Hgene | TMSB4X | GO:1903026 | negative regulation of RNA polymerase II regulatory region sequence-specific DNA binding | 21343177 |
Hgene | TMSB4X | GO:1905273 | positive regulation of proton-transporting ATP synthase activity, rotational mechanism | 21106936 |
Hgene | TMSB4X | GO:2000483 | negative regulation of interleukin-8 secretion | 21343177 |
Hgene | TMSB4X | GO:2001028 | positive regulation of endothelial cell chemotaxis | 21106936 |
Hgene | TMSB4X | GO:2001171 | positive regulation of ATP biosynthetic process | 21106936 |
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 |
ChiTaRS3.1 | D85181 | TMSB4X | chrX | 12994384 | - | SC5D | chr11 | 121163480 | + |
* 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 | ENST00000451311 | ENST00000264027 | TMSB4X | chrX | 12994384 | - | SC5D | chr11 | 121163480 | + |
5CDS-5UTR | ENST00000451311 | ENST00000534230 | TMSB4X | chrX | 12994384 | - | SC5D | chr11 | 121163480 | + |
5CDS-intron | ENST00000451311 | ENST00000392789 | TMSB4X | chrX | 12994384 | - | SC5D | chr11 | 121163480 | + |
5CDS-intron | ENST00000451311 | ENST00000528991 | TMSB4X | chrX | 12994384 | - | SC5D | chr11 | 121163480 | + |
5CDS-5UTR | ENST00000380636 | ENST00000264027 | TMSB4X | chrX | 12994384 | - | SC5D | chr11 | 121163480 | + |
5CDS-5UTR | ENST00000380636 | ENST00000534230 | TMSB4X | chrX | 12994384 | - | SC5D | chr11 | 121163480 | + |
5CDS-intron | ENST00000380636 | ENST00000392789 | TMSB4X | chrX | 12994384 | - | SC5D | chr11 | 121163480 | + |
5CDS-intron | ENST00000380636 | ENST00000528991 | TMSB4X | chrX | 12994384 | - | SC5D | chr11 | 121163480 | + |
5CDS-5UTR | ENST00000380635 | ENST00000264027 | TMSB4X | chrX | 12994384 | - | SC5D | chr11 | 121163480 | + |
5CDS-5UTR | ENST00000380635 | ENST00000534230 | TMSB4X | chrX | 12994384 | - | SC5D | chr11 | 121163480 | + |
5CDS-intron | ENST00000380635 | ENST00000392789 | TMSB4X | chrX | 12994384 | - | SC5D | chr11 | 121163480 | + |
5CDS-intron | ENST00000380635 | ENST00000528991 | TMSB4X | chrX | 12994384 | - | SC5D | chr11 | 121163480 | + |
5CDS-5UTR | ENST00000380633 | ENST00000264027 | TMSB4X | chrX | 12994384 | - | SC5D | chr11 | 121163480 | + |
5CDS-5UTR | ENST00000380633 | ENST00000534230 | TMSB4X | chrX | 12994384 | - | SC5D | chr11 | 121163480 | + |
5CDS-intron | ENST00000380633 | ENST00000392789 | TMSB4X | chrX | 12994384 | - | SC5D | chr11 | 121163480 | + |
5CDS-intron | ENST00000380633 | ENST00000528991 | TMSB4X | chrX | 12994384 | - | SC5D | chr11 | 121163480 | + |
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FusionProtFeatures for TMSB4X_SC5D |
Main function of each fusion partner protein. (from UniProt) |
Hgene | Tgene |
TMSB4X | SC5D |
Plays an important role in the organization of thecytoskeleton (By similarity). Binds to and sequesters actinmonomers (G actin) and therefore inhibits actin polymerization.{ECO:0000250}. Seraspenide inhibits the entry of hematopoieticpluripotent stem cells into the S-phase. {ECO:0000250}. | Catalyzes a dehydrogenation to introduce C5-6 doublebond into lathosterol. |
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 TMSB4X_SC5D |
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 TMSB4X_SC5D |
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 |
- 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 TMSB4X_SC5D |
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 TMSB4X_SC5D |
Diseases associated with fusion partners. (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Hgene | TMSB4X | C0033578 | Prostatic Neoplasms | 1 | CTD_human |
Hgene | TMSB4X | C1862939 | AMYOTROPHIC LATERAL SCLEROSIS 1 | 1 | CTD_human |
Tgene | SC5D | C1846421 | Lathosterolosis | 2 | CTD_human;ORPHANET;UNIPROT |
Tgene | SC5D | C0023895 | Liver diseases | 1 | CTD_human |
Tgene | SC5D | C3714756 | Intellectual Disability | 1 | CTD_human |