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Fusion gene ID: 38634 |
FusionGeneSummary for TMEM50B_CD44 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: TMEM50B_CD44 | Fusion gene ID: 38634 | Hgene | Tgene | Gene symbol | TMEM50B | CD44 | Gene ID | 757 | 960 |
| Gene name | transmembrane protein 50B | CD44 molecule (Indian blood group) | |
| Synonyms | C21orf4|HCVP7TP3 | CDW44|CSPG8|ECMR-III|HCELL|HUTCH-I|IN|LHR|MC56|MDU2|MDU3|MIC4|Pgp1 | |
| Cytomap | 21q22.11 | 11p13 | |
| Type of gene | protein-coding | protein-coding | |
| Description | transmembrane protein 50BHCV p7-trans-regulated protein 3HCV p7-transregulated protein 3 | CD44 antigenGP90 lymphocyte homing/adhesion receptorHermes antigencell surface glycoprotein CD44chondroitin sulfate proteoglycan 8epicanextracellular matrix receptor IIIhematopoietic cell E- and L-selectin ligandheparan sulfate proteoglycanhoming | |
| Modification date | 20180523 | 20180527 | |
| UniProtAcc | P56557 | P16070 | |
| Ensembl transtripts involved in fusion gene | ENST00000468874, ENST00000542230, | ENST00000263398, ENST00000526025, ENST00000449691, ENST00000360158, ENST00000415148, ENST00000437706, ENST00000433354, ENST00000428726, ENST00000526669, ENST00000433892, ENST00000278386, ENST00000434472, ENST00000352818, ENST00000528922, | |
| Fusion gene scores | * DoF score | 5 X 2 X 4=40 | 6 X 7 X 3=126 |
| # samples | 5 | 9 | |
| ** MAII score | log2(5/40*10)=0.321928094887362 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | log2(9/126*10)=-0.485426827170242 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: TMEM50B [Title/Abstract] AND CD44 [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 |
| Tgene | CD44 | GO:0030214 | hyaluronan catabolic process | 17170110 |
| Tgene | CD44 | GO:0033138 | positive regulation of peptidyl-serine phosphorylation | 17045821 |
| Tgene | CD44 | GO:0043518 | negative regulation of DNA damage response, signal transduction by p53 class mediator | 17045821 |
| Tgene | CD44 | GO:0044344 | cellular response to fibroblast growth factor stimulus | 19577615 |
| Tgene | CD44 | GO:0050731 | positive regulation of peptidyl-tyrosine phosphorylation | 17045821 |
| Tgene | CD44 | GO:0070374 | positive regulation of ERK1 and ERK2 cascade | 17045821 |
| Tgene | CD44 | GO:1902166 | negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator | 17045821 |
| 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 | AW935153 | TMEM50B | chr21 | 34821880 | + | CD44 | chr11 | 35233263 | + |
| * 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 |
| intron-intron | ENST00000468874 | ENST00000263398 | TMEM50B | chr21 | 34821880 | + | CD44 | chr11 | 35233263 | + |
| intron-intron | ENST00000468874 | ENST00000526025 | TMEM50B | chr21 | 34821880 | + | CD44 | chr11 | 35233263 | + |
| intron-intron | ENST00000468874 | ENST00000449691 | TMEM50B | chr21 | 34821880 | + | CD44 | chr11 | 35233263 | + |
| intron-intron | ENST00000468874 | ENST00000360158 | TMEM50B | chr21 | 34821880 | + | CD44 | chr11 | 35233263 | + |
| intron-intron | ENST00000468874 | ENST00000415148 | TMEM50B | chr21 | 34821880 | + | CD44 | chr11 | 35233263 | + |
| intron-intron | ENST00000468874 | ENST00000437706 | TMEM50B | chr21 | 34821880 | + | CD44 | chr11 | 35233263 | + |
| intron-intron | ENST00000468874 | ENST00000433354 | TMEM50B | chr21 | 34821880 | + | CD44 | chr11 | 35233263 | + |
| intron-intron | ENST00000468874 | ENST00000428726 | TMEM50B | chr21 | 34821880 | + | CD44 | chr11 | 35233263 | + |
| intron-intron | ENST00000468874 | ENST00000526669 | TMEM50B | chr21 | 34821880 | + | CD44 | chr11 | 35233263 | + |
| intron-intron | ENST00000468874 | ENST00000433892 | TMEM50B | chr21 | 34821880 | + | CD44 | chr11 | 35233263 | + |
| intron-intron | ENST00000468874 | ENST00000278386 | TMEM50B | chr21 | 34821880 | + | CD44 | chr11 | 35233263 | + |
| intron-intron | ENST00000468874 | ENST00000434472 | TMEM50B | chr21 | 34821880 | + | CD44 | chr11 | 35233263 | + |
| intron-intron | ENST00000468874 | ENST00000352818 | TMEM50B | chr21 | 34821880 | + | CD44 | chr11 | 35233263 | + |
| intron-intron | ENST00000468874 | ENST00000528922 | TMEM50B | chr21 | 34821880 | + | CD44 | chr11 | 35233263 | + |
| intron-intron | ENST00000542230 | ENST00000263398 | TMEM50B | chr21 | 34821880 | + | CD44 | chr11 | 35233263 | + |
| intron-intron | ENST00000542230 | ENST00000526025 | TMEM50B | chr21 | 34821880 | + | CD44 | chr11 | 35233263 | + |
| intron-intron | ENST00000542230 | ENST00000449691 | TMEM50B | chr21 | 34821880 | + | CD44 | chr11 | 35233263 | + |
| intron-intron | ENST00000542230 | ENST00000360158 | TMEM50B | chr21 | 34821880 | + | CD44 | chr11 | 35233263 | + |
| intron-intron | ENST00000542230 | ENST00000415148 | TMEM50B | chr21 | 34821880 | + | CD44 | chr11 | 35233263 | + |
| intron-intron | ENST00000542230 | ENST00000437706 | TMEM50B | chr21 | 34821880 | + | CD44 | chr11 | 35233263 | + |
| intron-intron | ENST00000542230 | ENST00000433354 | TMEM50B | chr21 | 34821880 | + | CD44 | chr11 | 35233263 | + |
| intron-intron | ENST00000542230 | ENST00000428726 | TMEM50B | chr21 | 34821880 | + | CD44 | chr11 | 35233263 | + |
| intron-intron | ENST00000542230 | ENST00000526669 | TMEM50B | chr21 | 34821880 | + | CD44 | chr11 | 35233263 | + |
| intron-intron | ENST00000542230 | ENST00000433892 | TMEM50B | chr21 | 34821880 | + | CD44 | chr11 | 35233263 | + |
| intron-intron | ENST00000542230 | ENST00000278386 | TMEM50B | chr21 | 34821880 | + | CD44 | chr11 | 35233263 | + |
| intron-intron | ENST00000542230 | ENST00000434472 | TMEM50B | chr21 | 34821880 | + | CD44 | chr11 | 35233263 | + |
| intron-intron | ENST00000542230 | ENST00000352818 | TMEM50B | chr21 | 34821880 | + | CD44 | chr11 | 35233263 | + |
| intron-intron | ENST00000542230 | ENST00000528922 | TMEM50B | chr21 | 34821880 | + | CD44 | chr11 | 35233263 | + |
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FusionProtFeatures for TMEM50B_CD44 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| TMEM50B | CD44 |
| 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 TMEM50B_CD44 |
| 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 TMEM50B_CD44 |
| 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 TMEM50B_CD44 |
| 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 | CD44 | P16070 | DB08818 | Hyaluronic acid | CD44 antigen | small molecule | approved|vet_approved |
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RelatedDiseases for TMEM50B_CD44 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Tgene | CD44 | C0023487 | Acute Promyelocytic Leukemia | 2 | CTD_human |
| Tgene | CD44 | C0011616 | Contact Dermatitis | 1 | CTD_human |
| Tgene | CD44 | C0017661 | IGA Glomerulonephritis | 1 | CTD_human |
| Tgene | CD44 | C0023467 | Leukemia, Myelocytic, Acute | 1 | CTD_human |
| Tgene | CD44 | C0024668 | Mammary Neoplasms, Experimental | 1 | CTD_human |
| Tgene | CD44 | C0027627 | Neoplasm Metastasis | 1 | CTD_human |
| Tgene | CD44 | C0027746 | Nerve Degeneration | 1 | CTD_human |
| Tgene | CD44 | C0030297 | Pancreatic Neoplasm | 1 | CTD_human |
| Tgene | CD44 | C0037274 | Dermatologic disorders | 1 | CTD_human |
| Tgene | CD44 | C0038356 | Stomach Neoplasms | 1 | CTD_human |
| Tgene | CD44 | C0042900 | Vitiligo | 1 | CTD_human |
| Tgene | CD44 | C0311375 | Arsenic Poisoning | 1 | CTD_human |
| Tgene | CD44 | C2609414 | Acute kidney injury | 1 | CTD_human |
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