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Fusion gene ID: 16952 |
FusionGeneSummary for HTT_TMED4 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: HTT_TMED4 | Fusion gene ID: 16952 | Hgene | Tgene | Gene symbol | HTT | TMED4 | Gene ID | 6532 | 222068 |
| Gene name | solute carrier family 6 member 4 | transmembrane p24 trafficking protein 4 | |
| Synonyms | 5-HTT|5-HTTLPR|5HTT|HTT|OCD1|SERT|SERT1|hSERT | ERS25|GMP25iso|HNLF|p24a3|p24alpha3 | |
| Cytomap | 17q11.2 | 7p13 | |
| Type of gene | protein-coding | protein-coding | |
| Description | sodium-dependent serotonin transporter5-hydroxytryptamine (serotonin) transporter5HT transporterNa+/Cl- dependent serotonin transporterserotonin transporter 1solute carrier family 6 (neurotransmitter transporter), member 4solute carrier family 6 (ne | transmembrane emp24 domain-containing protein 4endoplasmic reticulum stress-response protein 25 kDap24 family protein alpha-3putative NF-kappa-B-activating protein 156putative NFkB activating protein HNLFtransmembrane emp24 protein transport domain c | |
| Modification date | 20180527 | 20180523 | |
| UniProtAcc | P42858 | Q7Z7H5 | |
| Ensembl transtripts involved in fusion gene | ENST00000355072, ENST00000513806, | ENST00000457408, ENST00000289577, ENST00000481238, ENST00000444131, | |
| Fusion gene scores | * DoF score | 8 X 12 X 8=768 | 2 X 2 X 1=4 |
| # samples | 12 | 2 | |
| ** MAII score | log2(12/768*10)=-2.67807190511264 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(2/4*10)=2.32192809488736 | |
| Context | PubMed: HTT [Title/Abstract] AND TMED4 [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 | HTT | GO:0006837 | serotonin transport | 19270731 |
| Hgene | HTT | GO:0009636 | response to toxic substance | 17575980 |
| Hgene | HTT | GO:0015844 | monoamine transport | 16024787 |
| Hgene | HTT | GO:0051610 | serotonin uptake | 8987735|16870614|17506858|18227069|19270731 |
| 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 | BE766597 | HTT | chr4 | 3231263 | - | TMED4 | chr7 | 44620802 | + |
| * 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 | ENST00000355072 | ENST00000457408 | HTT | chr4 | 3231263 | - | TMED4 | chr7 | 44620802 | + |
| intron-intron | ENST00000355072 | ENST00000289577 | HTT | chr4 | 3231263 | - | TMED4 | chr7 | 44620802 | + |
| intron-intron | ENST00000355072 | ENST00000481238 | HTT | chr4 | 3231263 | - | TMED4 | chr7 | 44620802 | + |
| intron-5UTR | ENST00000355072 | ENST00000444131 | HTT | chr4 | 3231263 | - | TMED4 | chr7 | 44620802 | + |
| intron-3CDS | ENST00000513806 | ENST00000457408 | HTT | chr4 | 3231263 | - | TMED4 | chr7 | 44620802 | + |
| intron-intron | ENST00000513806 | ENST00000289577 | HTT | chr4 | 3231263 | - | TMED4 | chr7 | 44620802 | + |
| intron-intron | ENST00000513806 | ENST00000481238 | HTT | chr4 | 3231263 | - | TMED4 | chr7 | 44620802 | + |
| intron-5UTR | ENST00000513806 | ENST00000444131 | HTT | chr4 | 3231263 | - | TMED4 | chr7 | 44620802 | + |
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FusionProtFeatures for HTT_TMED4 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| HTT | TMED4 |
| May play a role in microtubule-mediated transport orvesicle function. | Involved in vesicular protein trafficking, mainly in theearly secretory pathway. targeting. Involved in the maintenance ofthe Golgi apparatus. Appears to play a role in the biosynthesis ofsecreted cargo including processing. Involved in endoplasmicreticulum stress response. May play a role in the regulation ofheat-shock response and apoptosis (By similarity). {ECO:0000250}. |
| 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 HTT_TMED4 |
| 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 HTT_TMED4 |
| 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 HTT_TMED4 |
| 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 HTT_TMED4 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | HTT | C0020179 | Huntington Disease | 9 | CTD_human;ORPHANET |
| Hgene | HTT | C0011570 | Mental Depression | 4 | PSYGENET |
| Hgene | HTT | C0011581 | Depressive disorder | 4 | HPO;PSYGENET |
| Hgene | HTT | C0525045 | Mood Disorders | 2 | PSYGENET |
| Hgene | HTT | C0006635 | Cadmium poisoning | 1 | CTD_human |
| Hgene | HTT | C0026650 | Movement Disorders | 1 | CTD_human;HPO |
| Hgene | HTT | C0677050 | Manganese Poisoning | 1 | CTD_human |
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