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Fusion gene ID: 37410 |
FusionGeneSummary for TBC1D5_HTT |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: TBC1D5_HTT | Fusion gene ID: 37410 | Hgene | Tgene | Gene symbol | TBC1D5 | HTT | Gene ID | 9779 | 6532 |
| Gene name | TBC1 domain family member 5 | solute carrier family 6 member 4 | |
| Synonyms | - | 5-HTT|5-HTTLPR|5HTT|HTT|OCD1|SERT|SERT1|hSERT | |
| Cytomap | 3p24.3 | 17q11.2 | |
| Type of gene | protein-coding | protein-coding | |
| Description | TBC1 domain family member 5 | 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 | |
| Modification date | 20180523 | 20180527 | |
| UniProtAcc | Q92609 | P42858 | |
| Ensembl transtripts involved in fusion gene | ENST00000414318, ENST00000253692, ENST00000429383, ENST00000446818, ENST00000429924, | ENST00000355072, ENST00000513806, | |
| Fusion gene scores | * DoF score | 6 X 4 X 5=120 | 7 X 8 X 4=224 |
| # samples | 6 | 8 | |
| ** MAII score | log2(6/120*10)=-1 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(8/224*10)=-1.48542682717024 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: TBC1D5 [Title/Abstract] AND HTT [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 | TBC1D5 | GO:0006914 | autophagy | 22354992 |
| Hgene | TBC1D5 | GO:0042594 | response to starvation | 22354992 |
| Tgene | HTT | GO:0006837 | serotonin transport | 19270731 |
| Tgene | HTT | GO:0009636 | response to toxic substance | 17575980 |
| Tgene | HTT | GO:0015844 | monoamine transport | 16024787 |
| Tgene | 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 |
| TCGA | RV | KIRC | TCGA-B0-4696-01A | TBC1D5 | chr3 | 17783973 | - | HTT | chr4 | 3225133 | + |
| * 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 | ENST00000414318 | ENST00000355072 | TBC1D5 | chr3 | 17783973 | - | HTT | chr4 | 3225133 | + |
| intron-intron | ENST00000414318 | ENST00000513806 | TBC1D5 | chr3 | 17783973 | - | HTT | chr4 | 3225133 | + |
| intron-3CDS | ENST00000253692 | ENST00000355072 | TBC1D5 | chr3 | 17783973 | - | HTT | chr4 | 3225133 | + |
| intron-intron | ENST00000253692 | ENST00000513806 | TBC1D5 | chr3 | 17783973 | - | HTT | chr4 | 3225133 | + |
| 5UTR-3CDS | ENST00000429383 | ENST00000355072 | TBC1D5 | chr3 | 17783973 | - | HTT | chr4 | 3225133 | + |
| 5UTR-intron | ENST00000429383 | ENST00000513806 | TBC1D5 | chr3 | 17783973 | - | HTT | chr4 | 3225133 | + |
| intron-3CDS | ENST00000446818 | ENST00000355072 | TBC1D5 | chr3 | 17783973 | - | HTT | chr4 | 3225133 | + |
| intron-intron | ENST00000446818 | ENST00000513806 | TBC1D5 | chr3 | 17783973 | - | HTT | chr4 | 3225133 | + |
| intron-3CDS | ENST00000429924 | ENST00000355072 | TBC1D5 | chr3 | 17783973 | - | HTT | chr4 | 3225133 | + |
| intron-intron | ENST00000429924 | ENST00000513806 | TBC1D5 | chr3 | 17783973 | - | HTT | chr4 | 3225133 | + |
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FusionProtFeatures for TBC1D5_HTT |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| TBC1D5 | HTT |
| May act as a GTPase-activating protein (GAP) for Rabfamily protein(s). May act as a GAP for RAB7A. Can displace RAB7Aand retromer CSC subcomplex from the endosomal membrane to thecytosol; at least retromer displacement seems to require itscatalytic activity (PubMed:19531583, PubMed:20923837). Requiredfor retrograde transport of cargo proteins from endosomes to thetrans-Golgi network (TGN); the function seems to require itscatalytic activity. Involved in regulation of autophagy(PubMed:22354992). May act as a molecular switch between endosomaland autophagosomal transport and is involved in reprogrammingvesicle trafficking upon autophagy induction. Involved in thetrafficking of ATG9A upon activation of autophagy. May regulatethe recruitment of ATG9A-AP2-containing vesicles to autophagicmembranes (PubMed:24603492). {ECO:0000269|PubMed:19531583,ECO:0000269|PubMed:20923837, ECO:0000269|PubMed:22354992,ECO:0000269|PubMed:24603492, ECO:0000305|PubMed:19531583,ECO:0000305|PubMed:22354992, ECO:0000305|PubMed:24603492}. | May play a role in microtubule-mediated transport orvesicle function. |
| 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 TBC1D5_HTT |
| 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 TBC1D5_HTT |
| 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 |
| TBC1D5 | GABARAPL2, AP2M1, VPS29, MAP1LC3A, GABARAPL1, MAP1LC3B, VPS35, VPS26A, VPS26B, FAM21A, ATXN1, YWHAB, EIF1AD, NTRK1, TMEM17, XPO1, PTPRR, UBC | HTT | SETD2, HAP1, ZDHHC17, HYPK, TRIP10, NEUROD1, PRPF40A, PRPF40B, MAGEA3, FICD, UBE2K, AP2A2, OPTN, HYPM, CREBBP, SH3GL3, SP1, MAP3K10, HIP1, EGFR, GRB2, RASA1, TCERG1, TP53, PACSIN1, F8A1, NCOR1, CTBP1, AGO2, KAT2B, SYVN1, AMFR, VCP, CHUK, IKBKB, HSPA8, TRAF6, UBQLN1, IKBKG, AXIN1, CTNNB1, GAPDH, SIAH1, MED31, CRMP1, FEZ1, GIT1, CHD3, ECH1, IKBKAP, XRCC6, PFN2, PIAS4, GPRASP2, UTP14A, DNALI1, GRM1, HSP90AB1, DNAJB1, DNAJA1, HBS1L, TUBA1A, TUBB, PSMC5, ATG5, SQSTM1, NBR1, MAP1LC3A, HTT, TAF4, PIAS1, ZNF451, HOXC4, EVL, UBAC1, HMG20A, ERCC6L, FTL, TTC23, RNF20, HEY2, ZNF655, PIK3R1, ZFYVE19, GOLPH3L, MAGEB18, MRFAP1, UBE2E3, ZMAT2, DUSP10, MRFAP1L1, GGA2, ING5, IFT20, HEYL, TACC1, MBD4, DPPA4, ETV4, MAGEB6, MED21, HIST1H3H, PEX11B, MBD1, TRAFD1, HOXC11, OSTF1, NUPL1, XAGE3, PTGES2, MIPEP, PSMB7, NME4, RPL4, ZFC3H1, UPF3A, CCDC126, HMGA1, FAM71F1, RCN2, USP8, MGRN1, PML, ITCH, USP14, MID1, RPS6KB1, PPP2CA, CREB1, HLA-B, PRMT2, ULK1, RFXANK, LLGL1, MAPK3, KIF23, BAG3, RAPGEF2, HUWE1, MORC3, UBQLN2, RAB30, SNX21, SYT12, MPP1, NPY2R, OPRM1, CRYL1, IL17RA, C5AR2, TKT, RHEB, MTOR |
| - 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 TBC1D5_HTT |
| 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 TBC1D5_HTT |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Tgene | HTT | C0020179 | Huntington Disease | 9 | CTD_human;ORPHANET |
| Tgene | HTT | C0011570 | Mental Depression | 4 | PSYGENET |
| Tgene | HTT | C0011581 | Depressive disorder | 4 | HPO;PSYGENET |
| Tgene | HTT | C0525045 | Mood Disorders | 2 | PSYGENET |
| Tgene | HTT | C0006635 | Cadmium poisoning | 1 | CTD_human |
| Tgene | HTT | C0026650 | Movement Disorders | 1 | CTD_human;HPO |
| Tgene | HTT | C0677050 | Manganese Poisoning | 1 | CTD_human |
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