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Fusion gene ID: 33000 |
FusionGeneSummary for SEC11A_VPS33B |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: SEC11A_VPS33B | Fusion gene ID: 33000 | Hgene | Tgene | Gene symbol | SEC11A | VPS33B | Gene ID | 23478 | 26276 |
| Gene name | SEC11 homolog A, signal peptidase complex subunit | VPS33B, late endosome and lysosome associated | |
| Synonyms | 1810012E07Rik|SEC11L1|SPC18|SPCS4A|sid2895 | - | |
| Cytomap | 15q25.2-q25.3 | 15q26.1 | |
| Type of gene | protein-coding | protein-coding | |
| Description | signal peptidase complex catalytic subunit SEC11ASEC11-like protein 1SPase 18 kDa subunitendopeptidase SP18microsomal signal peptidase 18 kDa subunitsignal peptidase complex (18kD)signal peptidase complex 18 | vacuolar protein sorting-associated protein 33Bvacuolar protein sorting 33 homolog Bvacuolar protein sorting 33-like protein B | |
| Modification date | 20180523 | 20180519 | |
| UniProtAcc | P67812 | Q9H267 | |
| Ensembl transtripts involved in fusion gene | ENST00000558134, ENST00000560266, ENST00000268220, ENST00000455959, | ENST00000333371, ENST00000535843, ENST00000535906, ENST00000557358, | |
| Fusion gene scores | * DoF score | 3 X 3 X 3=27 | 4 X 4 X 4=64 |
| # samples | 3 | 5 | |
| ** MAII score | log2(3/27*10)=0.15200309344505 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | log2(5/64*10)=-0.356143810225275 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: SEC11A [Title/Abstract] AND VPS33B [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 | VPS33B | GO:0016192 | vesicle-mediated transport | 15790593 |
| Tgene | VPS33B | GO:0032400 | melanosome localization | 15790593 |
| Tgene | VPS33B | GO:0032418 | lysosome localization | 15790593 |
| 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 | SKCM | TCGA-DA-A1HW-06A | SEC11A | chr15 | 85259256 | - | VPS33B | chr15 | 91546361 | - |
| * 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 |
| Frame-shift | ENST00000558134 | ENST00000333371 | SEC11A | chr15 | 85259256 | - | VPS33B | chr15 | 91546361 | - |
| Frame-shift | ENST00000558134 | ENST00000535843 | SEC11A | chr15 | 85259256 | - | VPS33B | chr15 | 91546361 | - |
| Frame-shift | ENST00000558134 | ENST00000535906 | SEC11A | chr15 | 85259256 | - | VPS33B | chr15 | 91546361 | - |
| 5CDS-intron | ENST00000558134 | ENST00000557358 | SEC11A | chr15 | 85259256 | - | VPS33B | chr15 | 91546361 | - |
| Frame-shift | ENST00000560266 | ENST00000333371 | SEC11A | chr15 | 85259256 | - | VPS33B | chr15 | 91546361 | - |
| Frame-shift | ENST00000560266 | ENST00000535843 | SEC11A | chr15 | 85259256 | - | VPS33B | chr15 | 91546361 | - |
| Frame-shift | ENST00000560266 | ENST00000535906 | SEC11A | chr15 | 85259256 | - | VPS33B | chr15 | 91546361 | - |
| 5CDS-intron | ENST00000560266 | ENST00000557358 | SEC11A | chr15 | 85259256 | - | VPS33B | chr15 | 91546361 | - |
| Frame-shift | ENST00000268220 | ENST00000333371 | SEC11A | chr15 | 85259256 | - | VPS33B | chr15 | 91546361 | - |
| Frame-shift | ENST00000268220 | ENST00000535843 | SEC11A | chr15 | 85259256 | - | VPS33B | chr15 | 91546361 | - |
| Frame-shift | ENST00000268220 | ENST00000535906 | SEC11A | chr15 | 85259256 | - | VPS33B | chr15 | 91546361 | - |
| 5CDS-intron | ENST00000268220 | ENST00000557358 | SEC11A | chr15 | 85259256 | - | VPS33B | chr15 | 91546361 | - |
| 5UTR-3CDS | ENST00000455959 | ENST00000333371 | SEC11A | chr15 | 85259256 | - | VPS33B | chr15 | 91546361 | - |
| 5UTR-3CDS | ENST00000455959 | ENST00000535843 | SEC11A | chr15 | 85259256 | - | VPS33B | chr15 | 91546361 | - |
| 5UTR-3CDS | ENST00000455959 | ENST00000535906 | SEC11A | chr15 | 85259256 | - | VPS33B | chr15 | 91546361 | - |
| 5UTR-intron | ENST00000455959 | ENST00000557358 | SEC11A | chr15 | 85259256 | - | VPS33B | chr15 | 91546361 | - |
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FusionProtFeatures for SEC11A_VPS33B |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| SEC11A | VPS33B |
| Component of the microsomal signal peptidase complexwhich removes signal peptides from nascent proteins as they aretranslocated into the lumen of the endoplasmic reticulum.{ECO:0000250}. | May play a role in vesicle-mediated protein traffickingto lysosomal compartments and in membrane docking/fusion reactionsof late endosomes/lysosomes. Mediates phagolysosomal fusion inmacrophages (PubMed:18474358). Proposed to be involved inendosomal maturation implicating VIPAS39. In epithelial cells, theVPS33B:VIPAS39 complex may play a role in the apical recyclingpathway and in the maintenance of the apical-basolateral polarity(PubMed:20190753). Seems to be involved in the sorting of specificcargos from the trans-Golgi network to alpha-granule-destinedmultivesicular bodies (MVBs) promoting MVBs maturation inmegakaryocytes (By similarity). {ECO:0000250|UniProtKB:P59016,ECO:0000269|PubMed:18474358, ECO:0000305|PubMed:20190753,ECO:0000305|PubMed:23918659}. |
| 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 SEC11A_VPS33B |
| 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 SEC11A_VPS33B |
| 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 |
| SEC11A | TNFRSF14, SLC35F6, CSNK2B, FBXO6, NUPR1, RNF2, GABRE, TCTN2, TCTN3, EVC2, TCTN1, TMEM17, TMEM216, TMEM67, MCM2, GPC1 | VPS33B | VIPAS39, MAPK8IP2, ZAK, UVRAG, VPS41, APP, VPS35, UBE2N, ATP6V1B1, SF3B3, UFD1L, DDX39B, VPS29, UCHL3, SNX5, YWHAB, HECW2, TNIP1, SSFA2, NTRK1, SPICE1, SNW1, CDC5L, AP3D1, CLTB, HGS, MTMR7, CCDC22, MATN4, COLGALT2, KIF1B, LYG2, COMMD6, COMMD1 |
| - 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 SEC11A_VPS33B |
| 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 SEC11A_VPS33B |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Tgene | VPS33B | C1859722 | Arthrogryposis renal dysfunction cholestasis syndrome | 2 | CTD_human;ORPHANET;UNIPROT |
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