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Fusion gene ID: 27630 |
FusionGeneSummary for PLEKHG1_GJA1 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: PLEKHG1_GJA1 | Fusion gene ID: 27630 | Hgene | Tgene | Gene symbol | PLEKHG1 | GJA1 | Gene ID | 57480 | 2697 |
| Gene name | pleckstrin homology and RhoGEF domain containing G1 | gap junction protein alpha 1 | |
| Synonyms | ARHGEF41 | AVSD3|CMDR|CX43|EKVP|EKVP3|GJAL|HLHS1|HSS|ODDD|PPKCA | |
| Cytomap | 6q25.1 | 6q22.31 | |
| Type of gene | protein-coding | protein-coding | |
| Description | pleckstrin homology domain-containing family G member 1pleckstrin homology domain containing, family G (with RhoGef domain) member 1 | gap junction alpha-1 proteinconnexin-43gap junction 43 kDa heart proteingap junction protein, alpha 1, 43kDa | |
| Modification date | 20180519 | 20180527 | |
| UniProtAcc | Q9ULL1 | P17302 | |
| Ensembl transtripts involved in fusion gene | ENST00000367328, ENST00000358517, | ENST00000282561, | |
| Fusion gene scores | * DoF score | 6 X 7 X 5=210 | 3 X 3 X 2=18 |
| # samples | 7 | 3 | |
| ** MAII score | log2(7/210*10)=-1.58496250072116 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(3/18*10)=0.736965594166206 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | |
| Context | PubMed: PLEKHG1 [Title/Abstract] AND GJA1 [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 | GJA1 | GO:0007165 | signal transduction | 1696265 |
| Tgene | GJA1 | GO:0007267 | cell-cell signaling | 1696265 |
| Tgene | GJA1 | GO:0010644 | cell communication by electrical coupling | 1696265|16790700|23348765 |
| Tgene | GJA1 | GO:0034220 | ion transmembrane transport | 1696265 |
| 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 | MESO | TCGA-SC-A6LM-01A | PLEKHG1 | chr6 | 151089874 | + | GJA1 | chr6 | 121767978 | + |
| * 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-5UTR | ENST00000367328 | ENST00000282561 | PLEKHG1 | chr6 | 151089874 | + | GJA1 | chr6 | 121767978 | + |
| 5CDS-5UTR | ENST00000358517 | ENST00000282561 | PLEKHG1 | chr6 | 151089874 | + | GJA1 | chr6 | 121767978 | + |
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FusionProtFeatures for PLEKHG1_GJA1 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| PLEKHG1 | GJA1 |
| Gap junction protein that acts as a regulator of bladdercapacity. A gap junction consists of a cluster of closely packedpairs of transmembrane channels, the connexons, through whichmaterials of low MW diffuse from one cell to a neighboring cell.May play a critical role in the physiology of hearing byparticipating in the recycling of potassium to the cochlearendolymph. Negative regulator of bladder functional capacity: actsby enhancing intercellular electrical and chemical transmission,thus sensitizing bladder muscles to cholinergic neural stimuli andcausing them to contract (By similarity). May play a role in cellgrowth inhibition through the regulation of NOV expression andlocalization. Plays an essential role in gap junctioncommunication in the ventricles (By similarity).{ECO:0000250|UniProtKB:P08050, ECO:0000250|UniProtKB:P23242}. |
| 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 PLEKHG1_GJA1 |
| 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 PLEKHG1_GJA1 |
| 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 |
| PLEKHG1 | ANKRD28, LATS2, SSX2IP, OFD1, CEP162, CEP128, CEP135, CEP89, NINL, ODF2, RPGRIP1L, LLGL2, MYH13, CHST15, TUBGCP5 | GJA1 | S100A1, MAPK7, GJA1, GJA3, GJA5, CSNK1D, TJP1, PRKCA, PRKCE, CAV1, NEDD4, HGS, TSG101, EPS15, UBQLN4, CNST, PSMD2, PSMD4, STAMBP, KCNK16, TSPAN17, GPR52, NT5E, SLC39A4, STXBP2, NDUFA7, STXBP1, EEF1A2, FAM189A2, ZACN, HTR3C, DPEP1, GPR114, SLC39A12, UPK1A, HTR3A, STS, B4GAT1, GPR21, FSHR, TMPRSS3, YWHAQ, YWHAZ, UBE2A |
| - 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 PLEKHG1_GJA1 |
| 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 |
| Tgene | GJA1 | P17302 | DB01136 | Carvedilol | Gap junction alpha-1 protein | small molecule | approved|investigational |
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RelatedDiseases for PLEKHG1_GJA1 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | PLEKHG1 | C0040336 | Tobacco Use Disorder | 1 | CTD_human |
| Tgene | GJA1 | C0812437 | Oculo-dento-digital syndrome | 15 | CTD_human;ORPHANET;UNIPROT |
| Tgene | GJA1 | C0003811 | Cardiac Arrhythmia | 2 | CTD_human |
| Tgene | GJA1 | C0019284 | Diaphragmatic Hernia | 2 | CTD_human |
| Tgene | GJA1 | C0024121 | Lung Neoplasms | 2 | CTD_human |
| Tgene | GJA1 | C0001430 | Adenoma | 1 | CTD_human |
| Tgene | GJA1 | C0004352 | Autistic Disorder | 1 | CTD_human |
| Tgene | GJA1 | C0010051 | Coronary Aneurysm | 1 | CTD_human |
| Tgene | GJA1 | C0018522 | Hallermann's Syndrome | 1 | CTD_human;UNIPROT |
| Tgene | GJA1 | C0020538 | Hypertensive disease | 1 | CTD_human |
| Tgene | GJA1 | C0023893 | Liver Cirrhosis, Experimental | 1 | CTD_human |
| Tgene | GJA1 | C0027055 | Myocardial Reperfusion Injury | 1 | CTD_human |
| Tgene | GJA1 | C0033578 | Prostatic Neoplasms | 1 | CTD_human |
| Tgene | GJA1 | C0037286 | Skin Neoplasms | 1 | CTD_human |
| Tgene | GJA1 | C0041696 | Unipolar Depression | 1 | PSYGENET |
| Tgene | GJA1 | C0152101 | Hypoplastic Left Heart Syndrome | 1 | CTD_human;HPO;ORPHANET;UNIPROT |
| Tgene | GJA1 | C0178417 | Anhedonia | 1 | PSYGENET |
| Tgene | GJA1 | C0265961 | Erythrokeratodermia variabilis | 1 | ORPHANET;UNIPROT |
| Tgene | GJA1 | C1269683 | Major Depressive Disorder | 1 | PSYGENET |
| Tgene | GJA1 | C1861366 | SYNDACTYLY, TYPE III | 1 | CTD_human;ORPHANET;UNIPROT |
| Tgene | GJA1 | C2931244 | Craniometaphyseal dysplasia, autosomal recessive type | 1 | UNIPROT |
| Tgene | GJA1 | C3151468 | PALMOPLANTAR KERATODERMA AND CONGENITAL ALOPECIA 1 | 1 | ORPHANET;UNIPROT |
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