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Fusion gene ID: 26694 |
FusionGeneSummary for PERP_SLC2A1 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: PERP_SLC2A1 | Fusion gene ID: 26694 | Hgene | Tgene | Gene symbol | PERP | SLC2A1 | Gene ID | 64065 | 6513 |
| Gene name | PERP, TP53 apoptosis effector | solute carrier family 2 member 1 | |
| Synonyms | KCP1|KRTCAP1|PIGPC1|THW|dJ496H19.1 | CSE|DYT17|DYT18|DYT9|EIG12|GLUT|GLUT-1|GLUT1|GLUT1DS|HTLVR|PED|SDCHCN | |
| Cytomap | 6q23.3 | 1p34.2 | |
| Type of gene | protein-coding | protein-coding | |
| Description | p53 apoptosis effector related to PMP-221110017A08RikKCP-1keratinocyte-associated protein 1keratinocytes associated protein 1p53 apoptosis effector related to PMP22p53-induced protein PIGPC1transmembrane protein THW | solute carrier family 2, facilitated glucose transporter member 1choreoathetosis/spasticity, episodic (paroxysmal choreoathetosis/spasticity)glucose transporter type 1, erythrocyte/brainhepG2 glucose transporterhuman T-cell leukemia virus (I and II) r | |
| Modification date | 20180523 | 20180527 | |
| UniProtAcc | Q96FX8 | P11166 | |
| Ensembl transtripts involved in fusion gene | ENST00000421351, | ENST00000426263, ENST00000475162, ENST00000415851, ENST00000372500, | |
| Fusion gene scores | * DoF score | 6 X 5 X 4=120 | 5 X 4 X 3=60 |
| # samples | 6 | 5 | |
| ** MAII score | log2(6/120*10)=-1 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(5/60*10)=-0.263034405833794 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: PERP [Title/Abstract] AND SLC2A1 [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 | PERP | GO:0045862 | positive regulation of proteolysis | 18387192 |
| Hgene | PERP | GO:0097202 | activation of cysteine-type endopeptidase activity | 18387192 |
| Tgene | SLC2A1 | GO:0065003 | protein-containing complex assembly | 18347014 |
| Tgene | SLC2A1 | GO:1904659 | glucose transmembrane transport | 18245775 |
| 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 | AW856224 | PERP | chr6 | 138413330 | - | SLC2A1 | chr1 | 43394674 | - |
| * 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 | ENST00000421351 | ENST00000426263 | PERP | chr6 | 138413330 | - | SLC2A1 | chr1 | 43394674 | - |
| intron-intron | ENST00000421351 | ENST00000475162 | PERP | chr6 | 138413330 | - | SLC2A1 | chr1 | 43394674 | - |
| intron-intron | ENST00000421351 | ENST00000415851 | PERP | chr6 | 138413330 | - | SLC2A1 | chr1 | 43394674 | - |
| intron-intron | ENST00000421351 | ENST00000372500 | PERP | chr6 | 138413330 | - | SLC2A1 | chr1 | 43394674 | - |
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FusionProtFeatures for PERP_SLC2A1 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| PERP | SLC2A1 |
| Component of intercellular desmosome junctions. Plays arole in stratified epithelial integrity and cell-cell adhesion bypromoting desmosome assembly. Plays a role as an effector in theTP53-dependent apoptotic pathway (By similarity). {ECO:0000250}. | Facilitative glucose transporter. This isoform may beresponsible for constitutive or basal glucose uptake. Has a verybroad substrate specificity; can transport a wide range of aldosesincluding both pentoses and hexoses. {ECO:0000269|PubMed:18245775,ECO:0000269|PubMed:19449892}. |
| 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 PERP_SLC2A1 |
| 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 PERP_SLC2A1 |
| 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 PERP_SLC2A1 |
| 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 PERP_SLC2A1 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Tgene | SLC2A1 | C1847501 | Glut1 Deficiency Syndrome | 14 | CTD_human;ORPHANET;UNIPROT |
| Tgene | SLC2A1 | C1842534 | DYSTONIA 18 (disorder) | 11 | CTD_human;ORPHANET;UNIPROT |
| Tgene | SLC2A1 | C3553859 | EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 12 | 4 | UNIPROT |
| Tgene | SLC2A1 | C0008073 | Developmental Disabilities | 3 | CTD_human |
| Tgene | SLC2A1 | C0036572 | Seizures | 3 | CTD_human;HPO |
| Tgene | SLC2A1 | C0025958 | Microcephaly | 2 | CTD_human |
| Tgene | SLC2A1 | C1837206 | Cryohydrocytosis, Stomatin-Deficient, with Mental Retardation, Seizures, Cataracts, and Massive Hepatosplenomegaly | 2 | ORPHANET;UNIPROT |
| Tgene | SLC2A1 | C0004134 | Ataxia | 1 | CTD_human |
| Tgene | SLC2A1 | C0007124 | Noninfiltrating Intraductal Carcinoma | 1 | CTD_human |
| Tgene | SLC2A1 | C0007134 | Renal Cell Carcinoma | 1 | CTD_human |
| Tgene | SLC2A1 | C0007621 | Neoplastic Cell Transformation | 1 | CTD_human |
| Tgene | SLC2A1 | C0009375 | Colonic Neoplasms | 1 | CTD_human |
| Tgene | SLC2A1 | C0011860 | Diabetes Mellitus, Non-Insulin-Dependent | 1 | CTD_human |
| Tgene | SLC2A1 | C0023903 | Liver neoplasms | 1 | CTD_human |
| Tgene | SLC2A1 | C0025521 | Inborn Errors of Metabolism | 1 | CTD_human |
| Tgene | SLC2A1 | C0027765 | nervous system disorder | 1 | CTD_human |
| Tgene | SLC2A1 | C0029408 | Degenerative polyarthritis | 1 | CTD_human |
| Tgene | SLC2A1 | C0031149 | Peritoneal Neoplasms | 1 | CTD_human |
| Tgene | SLC2A1 | C0345967 | Malignant mesothelioma | 1 | CTD_human |
| Tgene | SLC2A1 | C0919267 | ovarian neoplasm | 1 | CTD_human |
| Tgene | SLC2A1 | C1176475 | Ductal Carcinoma | 1 | CTD_human |
| Tgene | SLC2A1 | C1458155 | Mammary Neoplasms | 1 | CTD_human |
| Tgene | SLC2A1 | C2239176 | Liver carcinoma | 1 | CTD_human |
| Tgene | SLC2A1 | C3714756 | Intellectual Disability | 1 | CTD_human;HPO |
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