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Fusion gene ID: 16762 |
FusionGeneSummary for HPS6_STX16 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: HPS6_STX16 | Fusion gene ID: 16762 | Hgene | Tgene | Gene symbol | HPS6 | STX16 | Gene ID | 79803 | 8675 |
| Gene name | HPS6, biogenesis of lysosomal organelles complex 2 subunit 3 | syntaxin 16 | |
| Synonyms | BLOC2S3 | SYN16 | |
| Cytomap | 10q24.32 | 20q13.32 | |
| Type of gene | protein-coding | protein-coding | |
| Description | Hermansky-Pudlak syndrome 6 proteinHermansky-Pudlak syndrome-6 protein (HPS6)ruby-eye protein homolog | syntaxin-16 | |
| Modification date | 20180523 | 20180523 | |
| UniProtAcc | Q86YV9 | O14662 | |
| Ensembl transtripts involved in fusion gene | ENST00000299238, | ENST00000355957, ENST00000361770, ENST00000359617, ENST00000371141, ENST00000371132, ENST00000496003, ENST00000358029, ENST00000361830, | |
| Fusion gene scores | * DoF score | 1 X 1 X 1=1 | 4 X 4 X 2=32 |
| # samples | 2 | 5 | |
| ** MAII score | log2(2/1*10)=4.32192809488736 | log2(5/32*10)=0.643856189774725 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | |
| Context | PubMed: HPS6 [Title/Abstract] AND STX16 [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 | STX16 | GO:0042147 | retrograde transport, endosome to Golgi | 15215310|18195106 |
| 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 | AI655600 | HPS6 | chr10 | 103825750 | + | STX16 | chr20 | 57251520 | + | ||
| ChiTaRS3.1 | AW290881 | HPS6 | chr10 | 103825750 | + | STX16 | chr20 | 57251520 | + |
| * 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-3UTR | ENST00000299238 | ENST00000355957 | HPS6 | chr10 | 103825750 | + | STX16 | chr20 | 57251520 | + |
| 5CDS-3UTR | ENST00000299238 | ENST00000361770 | HPS6 | chr10 | 103825750 | + | STX16 | chr20 | 57251520 | + |
| 5CDS-3UTR | ENST00000299238 | ENST00000359617 | HPS6 | chr10 | 103825750 | + | STX16 | chr20 | 57251520 | + |
| 5CDS-3UTR | ENST00000299238 | ENST00000371141 | HPS6 | chr10 | 103825750 | + | STX16 | chr20 | 57251520 | + |
| 5CDS-3UTR | ENST00000299238 | ENST00000371132 | HPS6 | chr10 | 103825750 | + | STX16 | chr20 | 57251520 | + |
| 5CDS-intron | ENST00000299238 | ENST00000496003 | HPS6 | chr10 | 103825750 | + | STX16 | chr20 | 57251520 | + |
| 5CDS-3UTR | ENST00000299238 | ENST00000358029 | HPS6 | chr10 | 103825750 | + | STX16 | chr20 | 57251520 | + |
| 5CDS-3UTR | ENST00000299238 | ENST00000361830 | HPS6 | chr10 | 103825750 | + | STX16 | chr20 | 57251520 | + |
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FusionProtFeatures for HPS6_STX16 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| HPS6 | STX16 |
| May regulate the synthesis and function of lysosomes andof highly specialized organelles, such as melanosomes and plateletdense granules (PubMed:17041891). Acts as cargo adapter for thedynein-dynactin motor complex to mediate the transport oflysosomes from the cell periphery to the perinuclear region.Facilitates retrograde lysosomal trafficking by linking the motorcomplex to lysosomes, and perinuclear positioning of lysosomes iscrucial for the delivery of endocytic cargos to lysosomes, forlysosome maturation and functioning (PubMed:25189619).{ECO:0000269|PubMed:17041891, ECO:0000269|PubMed:25189619}. |
| 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 HPS6_STX16 |
| 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 HPS6_STX16 |
| 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 HPS6_STX16 |
| 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 HPS6_STX16 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
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