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Fusion gene ID: 15916 |
FusionGeneSummary for HCST_IMMT |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: HCST_IMMT | Fusion gene ID: 15916 | Hgene | Tgene | Gene symbol | HCST | IMMT | Gene ID | 10870 | 10989 |
| Gene name | hematopoietic cell signal transducer | inner membrane mitochondrial protein | |
| Synonyms | DAP10|KAP10|PIK3AP | HMP|MINOS2|Mic60|P87|P87/89|P89|PIG4|PIG52 | |
| Cytomap | 19q13.12 | 2p11.2|2 | |
| Type of gene | protein-coding | protein-coding | |
| Description | hematopoietic cell signal transducerDNAX-activation protein 10kinase assoc pro of ~10kDakinase assoc proteinmembrane protein DAP10phosphoinositide-3-kinase adaptor proteintransmembrane adapter protein KAP10 | MICOS complex subunit MIC60cell proliferation-inducing gene 4/52 proteincell proliferation-inducing protein 52heart muscle proteinmitochondrial inner membrane organizing system 2mitochondrial inner membrane proteinmitofilinmotor proteinproliferati | |
| Modification date | 20180523 | 20180527 | |
| UniProtAcc | Q9UBK5 | Q16891 | |
| Ensembl transtripts involved in fusion gene | ENST00000246551, ENST00000437550, | ENST00000254636, ENST00000449247, ENST00000410111, ENST00000442664, ENST00000409051, ENST00000490238, | |
| Fusion gene scores | * DoF score | 2 X 2 X 1=4 | 9 X 9 X 6=486 |
| # samples | 2 | 11 | |
| ** MAII score | log2(2/4*10)=2.32192809488736 | log2(11/486*10)=-2.14345279008112 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: HCST [Title/Abstract] AND IMMT [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 | HCST | GO:0014068 | positive regulation of phosphatidylinositol 3-kinase signaling | 10426994 |
| 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 | BM925115 | HCST | chr19 | 36394762 | + | IMMT | chr2 | 86406640 | - |
| * 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 | ENST00000246551 | ENST00000254636 | HCST | chr19 | 36394762 | + | IMMT | chr2 | 86406640 | - |
| 5CDS-5UTR | ENST00000246551 | ENST00000449247 | HCST | chr19 | 36394762 | + | IMMT | chr2 | 86406640 | - |
| 5CDS-5UTR | ENST00000246551 | ENST00000410111 | HCST | chr19 | 36394762 | + | IMMT | chr2 | 86406640 | - |
| 5CDS-5UTR | ENST00000246551 | ENST00000442664 | HCST | chr19 | 36394762 | + | IMMT | chr2 | 86406640 | - |
| 5CDS-5UTR | ENST00000246551 | ENST00000409051 | HCST | chr19 | 36394762 | + | IMMT | chr2 | 86406640 | - |
| 5CDS-intron | ENST00000246551 | ENST00000490238 | HCST | chr19 | 36394762 | + | IMMT | chr2 | 86406640 | - |
| 5CDS-5UTR | ENST00000437550 | ENST00000254636 | HCST | chr19 | 36394762 | + | IMMT | chr2 | 86406640 | - |
| 5CDS-5UTR | ENST00000437550 | ENST00000449247 | HCST | chr19 | 36394762 | + | IMMT | chr2 | 86406640 | - |
| 5CDS-5UTR | ENST00000437550 | ENST00000410111 | HCST | chr19 | 36394762 | + | IMMT | chr2 | 86406640 | - |
| 5CDS-5UTR | ENST00000437550 | ENST00000442664 | HCST | chr19 | 36394762 | + | IMMT | chr2 | 86406640 | - |
| 5CDS-5UTR | ENST00000437550 | ENST00000409051 | HCST | chr19 | 36394762 | + | IMMT | chr2 | 86406640 | - |
| 5CDS-intron | ENST00000437550 | ENST00000490238 | HCST | chr19 | 36394762 | + | IMMT | chr2 | 86406640 | - |
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FusionProtFeatures for HCST_IMMT |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| HCST | IMMT |
| Transmembrane adapter protein which associates withKLRK1 to form an activation receptor KLRK1-HCST in lymphoid andmyeloid cells; this receptor plays a major role in triggeringcytotoxicity against target cells expressing cell surface ligandssuch as MHC class I chain-related MICA and MICB, and UL16-bindingproteins (ULBPs); these ligands are up-regulated by stressconditions and pathological state such as viral infection andtumor transformation. Functions as docking site for PI3-kinasePIK3R1 and GRB2. Interaction of ULBPs with KLRK1-HCST triggerscalcium mobilization and activation of the PIK3R1, MAP2K/ERK, andJAK2/STAT5 signaling pathways. Both PIK3R1 and GRB2 are requiredfor full KLRK1-HCST-mediated activation and ultimate killing oftarget cells. In NK cells, KLRK1-HCST signaling directly inducescytotoxicity and enhances cytokine production initiated viaDAP12/TYROBP-associated receptors. In T-cells, it providesprimarily costimulation for TCR-induced signals. KLRK1-HCSTreceptor plays a role in immune surveillance against tumors and isrequired for cytolysis of tumors cells; indeed, melanoma cellsthat do not express KLRK1 ligands escape from immune surveillancemediated by NK cells. {ECO:0000269|PubMed:10426994,ECO:0000269|PubMed:10528161, ECO:0000269|PubMed:11015446,ECO:0000269|PubMed:11777960, ECO:0000269|PubMed:12740575,ECO:0000269|PubMed:12740576, ECO:0000269|PubMed:16002667,ECO:0000269|PubMed:16339517, ECO:0000269|PubMed:16582911,ECO:0000269|PubMed:18097042}. |
| 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 HCST_IMMT |
| 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 HCST_IMMT |
| 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 HCST_IMMT |
| 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 HCST_IMMT |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Tgene | IMMT | C0029408 | Degenerative polyarthritis | 1 | CTD_human |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
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