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Fusion gene ID: 19448 |
FusionGeneSummary for LAPTM4B_ARMC9 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: LAPTM4B_ARMC9 | Fusion gene ID: 19448 | Hgene | Tgene | Gene symbol | LAPTM4B | ARMC9 | Gene ID | 55353 | 80210 |
| Gene name | lysosomal protein transmembrane 4 beta | armadillo repeat containing 9 | |
| Synonyms | LAPTM4beta|LC27 | ARM|JBTS30|KU-MEL-1|NS21 | |
| Cytomap | 8q22.1 | 2q37.1 | |
| Type of gene | protein-coding | protein-coding | |
| Description | lysosomal-associated transmembrane protein 4Blysosomal associated protein transmembrane 4 betalysosome-associated transmembrane protein 4-beta | lisH domain-containing protein ARMC9armadillo repeat-containing protein 9armadillo/beta-catenin-like repeatsmelanoma/melanocyte specific protein KU-MEL-1melanoma/melanocyte-specific tumor antigen KU-MEL-1 | |
| Modification date | 20180523 | 20180519 | |
| UniProtAcc | Q86VI4 | Q7Z3E5 | |
| Ensembl transtripts involved in fusion gene | ENST00000445593, ENST00000521545, | ENST00000349938, ENST00000483477, | |
| Fusion gene scores | * DoF score | 3 X 1 X 3=9 | 6 X 6 X 7=252 |
| # samples | 3 | 8 | |
| ** MAII score | log2(3/9*10)=1.73696559416621 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | log2(8/252*10)=-1.65535182861255 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: LAPTM4B [Title/Abstract] AND ARMC9 [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 | LAPTM4B | GO:0032509 | endosome transport via multivesicular body sorting pathway | 25588945 |
| Hgene | LAPTM4B | GO:0032911 | negative regulation of transforming growth factor beta1 production | 26126825 |
| 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 | ACC | TCGA-OR-A5JP-01A | LAPTM4B | chr8 | 98788336 | + | ARMC9 | chr2 | 232220510 | + |
| * 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-intron | ENST00000445593 | ENST00000349938 | LAPTM4B | chr8 | 98788336 | + | ARMC9 | chr2 | 232220510 | + |
| 5CDS-3UTR | ENST00000445593 | ENST00000483477 | LAPTM4B | chr8 | 98788336 | + | ARMC9 | chr2 | 232220510 | + |
| 5CDS-intron | ENST00000521545 | ENST00000349938 | LAPTM4B | chr8 | 98788336 | + | ARMC9 | chr2 | 232220510 | + |
| 5CDS-3UTR | ENST00000521545 | ENST00000483477 | LAPTM4B | chr8 | 98788336 | + | ARMC9 | chr2 | 232220510 | + |
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FusionProtFeatures for LAPTM4B_ARMC9 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| LAPTM4B | ARMC9 |
| Required for optimal lysosomal function(PubMed:21224396). Blocks EGF-stimulated EGFR intraluminal sortingand degradation. Conversely by binding with thephosphatidylinositol 4,5-bisphosphate, regulates its PIP5K1Cinteraction, inhibits HGS ubiquitination and relieves LAPTM4Binhibition of EGFR degradation (PubMed:25588945). Recruits SLC3A2and SLC7A5 (the Leu transporter) to the lysosome, promoting entryof leucine and other essential amino acid (EAA) into the lysosome,stimulating activation of proton-transporting vacuolar (V)-ATPaseprotein pump (V-ATPase) and hence mTORC1 activation(PubMed:25998567). Plays a role as negative regulator of TGFB1production in regulatory T cells (PubMed:26126825). Binds ceramideand facilitates its exit from late endosome in order to controlcell death pathways (PubMed:26280656).{ECO:0000269|PubMed:21224396, ECO:0000269|PubMed:25588945,ECO:0000269|PubMed:25998567, ECO:0000269|PubMed:26126825,ECO:0000269|PubMed:26280656}. | Required for ciliogenesis.{ECO:0000250|UniProtKB:E7F187}. |
| 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 LAPTM4B_ARMC9 |
| 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 LAPTM4B_ARMC9 |
| 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 |
| LAPTM4B | NEDD4, TFRC, NAALADL2, PIP5K1C, HGS, SNX5, TMEM231, FAM134B, LYPD3, DLK1, TNFRSF10B, SLCO6A1, IL20RA, TNFRSF10A, ENTPD7, PCDHAC2 | ARMC9 | APP, CRTAP, CTSC, DPP8, NPLOC4, PRPS2, SIAH1, CMTM5, EPHA1 |
| - 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 LAPTM4B_ARMC9 |
| 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 LAPTM4B_ARMC9 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
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