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Fusion gene ID: 38401 |
FusionGeneSummary for TMEM127_ZAP70 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: TMEM127_ZAP70 | Fusion gene ID: 38401 | Hgene | Tgene | Gene symbol | TMEM127 | ZAP70 | Gene ID | 55654 | 7535 |
| Gene name | transmembrane protein 127 | zeta chain of T cell receptor associated protein kinase 70 | |
| Synonyms | - | ADMIO2|IMD48|SRK|STCD|STD|TZK|ZAP-70 | |
| Cytomap | 2q11.2 | 2q11.2 | |
| Type of gene | protein-coding | protein-coding | |
| Description | transmembrane protein 127 | tyrosine-protein kinase ZAP-7070 kDa zeta-associated protein70 kDa zeta-chain associated proteinsyk-related tyrosine kinasezeta chain of T cell receptor associated protein kinase 70kDazeta-chain (TCR) associated protein kinase 70kDazeta-chain associ | |
| Modification date | 20180519 | 20180522 | |
| UniProtAcc | O75204 | P43403 | |
| Ensembl transtripts involved in fusion gene | ENST00000258439, ENST00000432959, ENST00000435268, | ENST00000264972, ENST00000463643, ENST00000442208, ENST00000451498, | |
| Fusion gene scores | * DoF score | 3 X 3 X 3=27 | 1 X 1 X 1=1 |
| # samples | 3 | 1 | |
| ** MAII score | log2(3/27*10)=0.15200309344505 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | log2(1/1*10)=3.32192809488736 | |
| Context | PubMed: TMEM127 [Title/Abstract] AND ZAP70 [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 | ZAP70 | GO:0006468 | protein phosphorylation | 12447358 |
| Tgene | ZAP70 | GO:0006955 | immune response | 1423621 |
| Tgene | ZAP70 | GO:0018108 | peptidyl-tyrosine phosphorylation | 22732588 |
| Tgene | ZAP70 | GO:0045059 | positive thymic T cell selection | 7630421 |
| Tgene | ZAP70 | GO:0045582 | positive regulation of T cell differentiation | 7630421 |
| 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 | LD | LUSC | TCGA-21-5786-01A | TMEM127 | chr2 | 96919588 | - | ZAP70 | chr2 | 98349346 | + |
| * 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-3CDS | ENST00000258439 | ENST00000264972 | TMEM127 | chr2 | 96919588 | - | ZAP70 | chr2 | 98349346 | + |
| intron-3UTR | ENST00000258439 | ENST00000463643 | TMEM127 | chr2 | 96919588 | - | ZAP70 | chr2 | 98349346 | + |
| intron-3UTR | ENST00000258439 | ENST00000442208 | TMEM127 | chr2 | 96919588 | - | ZAP70 | chr2 | 98349346 | + |
| intron-intron | ENST00000258439 | ENST00000451498 | TMEM127 | chr2 | 96919588 | - | ZAP70 | chr2 | 98349346 | + |
| intron-3CDS | ENST00000432959 | ENST00000264972 | TMEM127 | chr2 | 96919588 | - | ZAP70 | chr2 | 98349346 | + |
| intron-3UTR | ENST00000432959 | ENST00000463643 | TMEM127 | chr2 | 96919588 | - | ZAP70 | chr2 | 98349346 | + |
| intron-3UTR | ENST00000432959 | ENST00000442208 | TMEM127 | chr2 | 96919588 | - | ZAP70 | chr2 | 98349346 | + |
| intron-intron | ENST00000432959 | ENST00000451498 | TMEM127 | chr2 | 96919588 | - | ZAP70 | chr2 | 98349346 | + |
| intron-3CDS | ENST00000435268 | ENST00000264972 | TMEM127 | chr2 | 96919588 | - | ZAP70 | chr2 | 98349346 | + |
| intron-3UTR | ENST00000435268 | ENST00000463643 | TMEM127 | chr2 | 96919588 | - | ZAP70 | chr2 | 98349346 | + |
| intron-3UTR | ENST00000435268 | ENST00000442208 | TMEM127 | chr2 | 96919588 | - | ZAP70 | chr2 | 98349346 | + |
| intron-intron | ENST00000435268 | ENST00000451498 | TMEM127 | chr2 | 96919588 | - | ZAP70 | chr2 | 98349346 | + |
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FusionProtFeatures for TMEM127_ZAP70 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| TMEM127 | ZAP70 |
| Controls cell proliferation acting as a negativeregulator of TOR signaling pathway mediated by mTORC1. May act asa tumor suppressor. {ECO:0000269|PubMed:20154675}. | Tyrosine kinase that plays an essential role inregulation of the adaptive immune response. Regulates motility,adhesion and cytokine expression of mature T-cells, as well asthymocyte development. Contributes also to the development andactivation of primary B-lymphocytes. When antigen presenting cells(APC) activate T-cell receptor (TCR), a serie of phosphorylationslead to the recruitment of ZAP70 to the doubly phosphorylated TCRcomponent CD247/CD3Z through ITAM motif at the plasma membrane.This recruitment serves to localization to the stimulated TCR andto relieve its autoinhibited conformation. Release of ZAP70 activeconformation is further stabilized by phosphorylation mediated byLCK. Subsequently, ZAP70 phosphorylates at least 2 essentialadapter proteins: LAT and LCP2. In turn, a large number ofsignaling molecules are recruited and ultimately lead tolymphokine production, T-cell proliferation and differentiation.Furthermore, ZAP70 controls cytoskeleton modifications, adhesionand mobility of T-lymphocytes, thus ensuring correct delivery ofeffectors to the APC. ZAP70 is also required for TCR-CD247/CD3Zinternalization and degradation through interaction with the E3ubiquitin-protein ligase CBL and adapter proteins SLA and SLA2.Thus, ZAP70 regulates both T-cell activation switch on and switchoff by modulating TCR expression at the T-cell surface. Duringthymocyte development, ZAP70 promotes survival and cell-cycleprogression of developing thymocytes before positive selection(when cells are still CD4/CD8 double negative). Additionally,ZAP70-dependent signaling pathway may also contribute to primaryB-cells formation and activation through B-cell receptor (BCR).{ECO:0000269|PubMed:11353765, ECO:0000269|PubMed:12051764,ECO:0000269|PubMed:1423621, ECO:0000269|PubMed:20135127,ECO:0000269|PubMed:26903241, ECO:0000269|PubMed:8124727,ECO:0000269|PubMed:8702662, ECO:0000269|PubMed:9489702}. |
| 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 TMEM127_ZAP70 |
| 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 TMEM127_ZAP70 |
| 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 |
| TMEM127 | ELAVL1 | ZAP70 | CBL, DBNL, CBLB, SLA, SH3BP2, FYN, ABL1, RASA1, SHB, ACP1, LAT, SHC1, GAB2, PAG1, PLCG1, GRB2, LCK, CRK, LCP2, VAV1, SLA2, CD3E, PTPN6, FCRL3, SIT1, CD4, CD5, CD247, TYROBP, TUBA1B, TUBA1A, TUBB, HSPA4, PIK3R1, CD38, CBLC, APP, PTPN22, EGFR, ERBB3, ZAP70, NDUFB8, ANAPC11, NR0B2, ASB3, CSK, PEAR1, USP12, RNF41, USP2 |
| - 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 TMEM127_ZAP70 |
| 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 TMEM127_ZAP70 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | TMEM127 | C0031511 | Pheochromocytoma | 2 | CTD_human;UNIPROT |
| Tgene | ZAP70 | C2931299 | ZAP70 deficiency | 4 | ORPHANET;UNIPROT |
| Tgene | ZAP70 | C0021051 | Immunologic Deficiency Syndromes | 1 | CTD_human |
| Tgene | ZAP70 | C0085110 | Severe Combined Immunodeficiency | 1 | CTD_human |
| Tgene | ZAP70 | C2931320 | T cell immunodeficiency primary | 1 | CTD_human |
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