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Fusion gene ID: 14677 |
FusionGeneSummary for GJC1_SKAP1 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: GJC1_SKAP1 | Fusion gene ID: 14677 | Hgene | Tgene | Gene symbol | GJC1 | SKAP1 | Gene ID | 10052 | 8631 |
| Gene name | gap junction protein gamma 1 | src kinase associated phosphoprotein 1 | |
| Synonyms | CX45|GJA7 | HEL-S-81p|SCAP1|SKAP55 | |
| Cytomap | 17q21.31 | 17q21.32 | |
| Type of gene | protein-coding | protein-coding | |
| Description | gap junction gamma-1 proteinCTC-296K1.4connexin-45gap junction alpha-7 proteingap junction protein, gamma 1, 45kDa | src kinase-associated phosphoprotein 1SKAP-55epididymis secretory sperm binding protein Li 81ppp55src family-associated phosphoprotein 1src kinase-associated phosphoprotein of 55 kDa | |
| Modification date | 20180520 | 20180523 | |
| UniProtAcc | P36383 | Q86WV1 | |
| Ensembl transtripts involved in fusion gene | ENST00000426548, ENST00000330514, ENST00000590758, ENST00000592524, | ENST00000336915, ENST00000584924, | |
| Fusion gene scores | * DoF score | 2 X 2 X 2=8 | 22 X 8 X 9=1584 |
| # samples | 2 | 22 | |
| ** MAII score | log2(2/8*10)=1.32192809488736 | log2(22/1584*10)=-2.84799690655495 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: GJC1 [Title/Abstract] AND SKAP1 [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 | SKAP1 | GO:0045944 | positive regulation of transcription by RNA polymerase II | 11909961 |
| 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-A5JS-01A | GJC1 | chr17 | 42884762 | - | SKAP1 | chr17 | 46266862 | - |
| * 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 |
| 5UTR-3CDS | ENST00000426548 | ENST00000336915 | GJC1 | chr17 | 42884762 | - | SKAP1 | chr17 | 46266862 | - |
| 5UTR-3CDS | ENST00000426548 | ENST00000584924 | GJC1 | chr17 | 42884762 | - | SKAP1 | chr17 | 46266862 | - |
| 5UTR-3CDS | ENST00000330514 | ENST00000336915 | GJC1 | chr17 | 42884762 | - | SKAP1 | chr17 | 46266862 | - |
| 5UTR-3CDS | ENST00000330514 | ENST00000584924 | GJC1 | chr17 | 42884762 | - | SKAP1 | chr17 | 46266862 | - |
| intron-3CDS | ENST00000590758 | ENST00000336915 | GJC1 | chr17 | 42884762 | - | SKAP1 | chr17 | 46266862 | - |
| intron-3CDS | ENST00000590758 | ENST00000584924 | GJC1 | chr17 | 42884762 | - | SKAP1 | chr17 | 46266862 | - |
| 5UTR-3CDS | ENST00000592524 | ENST00000336915 | GJC1 | chr17 | 42884762 | - | SKAP1 | chr17 | 46266862 | - |
| 5UTR-3CDS | ENST00000592524 | ENST00000584924 | GJC1 | chr17 | 42884762 | - | SKAP1 | chr17 | 46266862 | - |
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FusionProtFeatures for GJC1_SKAP1 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| GJC1 | SKAP1 |
| One 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. | Positively regulates T-cell receptor signaling byenhancing the MAP kinase pathway. Required for optimal conjugationbetween T-cells and antigen-presenting cells by promoting theclustering of integrin ITGAL on the surface of T-cells. May beinvolved in high affinity immunoglobulin epsilon receptorsignaling in mast cells. {ECO:0000269|PubMed:10856234,ECO:0000269|PubMed:11909961, ECO:0000269|PubMed:12652296,ECO:0000269|PubMed:15939789, ECO:0000269|PubMed:16980616}. |
| 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 GJC1_SKAP1 |
| 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 GJC1_SKAP1 |
| 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 |
| GJC1 | CNST, FAM189A2, EXTL2, ZACN, LPAR1, UBQLN4, PSMD2, GPR114, SLC39A12, UPK1A, GRPR, PTGIR, HTR3A, SLC22A16, SLC18A1 | SKAP1 | PTPRC, FYB, SRC, LYN, FYN, LCK, SKAP1, GRB2, APP, BLCAP, SH2D4A, PRAM1, FAM102A, AP3M1, MYO9B, MYO9A, POLR1B, LOC81691, EML3, WRN, ASPM, JPH1, POLR1A, POLR3A, RECQL4, HPS3, ZNF324, FAM208A, UXT, NCAPD3, MYCBP2, CUL2, PIP5K1A, NEK1, PLEKHH3, PHLDB3, PIK3C3, SEC63, SKAP2, GTF3C1, URI1, PIK3R2, PIK3R3, POLRMT, PLD2, UCKL1, PRR14L, KSR1, ZNHIT6, PDRG1, SETX, NEFL, ALMS1, APPBP2, DDX11L8, UTP15, SENP5, NCAPH2, PAX3, TBL2, ZNHIT2, ZNF644, SUGCT, PKN3, TTF2, PPHLN1, NPHP4, MTMR1, PKN2, C21orf2, POLA1, POLR3B, POLR2L, CCP110, SETD5, ELP3, DOCK7, USP54, POLR1E, TRMT44, POLR1D, EXPH5, NEK4, ATXN2, SBF1, GTPBP6, TRMT1, CD3EAP, PER1, SUPT6H, MCM8, RTEL1, TIGD5, PUSL1, KLHDC3, DYNLL2, MAP7D1 |
| - 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 GJC1_SKAP1 |
| 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 GJC1_SKAP1 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | GJC1 | C0020538 | Hypertensive disease | 1 | CTD_human |
| Tgene | SKAP1 | C0919267 | ovarian neoplasm | 1 | CTD_human |
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