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Fusion gene ID: 6377 |
FusionGeneSummary for CDC42SE1_KRAS |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: CDC42SE1_KRAS | Fusion gene ID: 6377 | Hgene | Tgene | Gene symbol | CDC42SE1 | KRAS | Gene ID | 56882 | 3845 |
| Gene name | CDC42 small effector 1 | KRAS proto-oncogene, GTPase | |
| Synonyms | SCIP1|SPEC1 | C-K-RAS|CFC2|K-RAS2A|K-RAS2B|K-RAS4A|K-RAS4B|K-Ras|KI-RAS|KRAS1|KRAS2|NS|NS3|RALD|RASK2|c-Ki-ras2 | |
| Cytomap | 1q21.3 | 12p12.1 | |
| Type of gene | protein-coding | protein-coding | |
| Description | CDC42 small effector protein 11300002M12RikCDC42-binding protein SCIP1signaling molecule SPEC1 betasmall effector of CDC42 protein 1small protein effector 1 of Cdc42 | GTPase KRasK-Ras 2K-ras p21 proteinKirsten rat sarcoma viral oncogene homologKirsten rat sarcoma viral proto-oncogenePR310 c-K-ras oncogenec-Ki-rasc-Kirsten-ras proteincellular c-Ki-ras2 proto-oncogenecellular transforming proto-oncogeneoncogene | |
| Modification date | 20180523 | 20180527 | |
| UniProtAcc | Q9NRR8 | P01116 | |
| Ensembl transtripts involved in fusion gene | ENST00000439374, ENST00000540998, ENST00000357235, ENST00000492796, | ENST00000311936, ENST00000557334, ENST00000256078, ENST00000556131, | |
| Fusion gene scores | * DoF score | 4 X 4 X 2=32 | 1 X 1 X 1=1 |
| # samples | 4 | 1 | |
| ** MAII score | log2(4/32*10)=0.321928094887362 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | log2(1/1*10)=3.32192809488736 | |
| Context | PubMed: CDC42SE1 [Title/Abstract] AND KRAS [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 |
| 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 | BE150903 | CDC42SE1 | chr1 | 151024290 | - | KRAS | chr12 | 25361596 | - |
| * 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-3UTR | ENST00000439374 | ENST00000311936 | CDC42SE1 | chr1 | 151024290 | - | KRAS | chr12 | 25361596 | - |
| intron-intron | ENST00000439374 | ENST00000557334 | CDC42SE1 | chr1 | 151024290 | - | KRAS | chr12 | 25361596 | - |
| intron-intron | ENST00000439374 | ENST00000256078 | CDC42SE1 | chr1 | 151024290 | - | KRAS | chr12 | 25361596 | - |
| intron-intron | ENST00000439374 | ENST00000556131 | CDC42SE1 | chr1 | 151024290 | - | KRAS | chr12 | 25361596 | - |
| intron-3UTR | ENST00000540998 | ENST00000311936 | CDC42SE1 | chr1 | 151024290 | - | KRAS | chr12 | 25361596 | - |
| intron-intron | ENST00000540998 | ENST00000557334 | CDC42SE1 | chr1 | 151024290 | - | KRAS | chr12 | 25361596 | - |
| intron-intron | ENST00000540998 | ENST00000256078 | CDC42SE1 | chr1 | 151024290 | - | KRAS | chr12 | 25361596 | - |
| intron-intron | ENST00000540998 | ENST00000556131 | CDC42SE1 | chr1 | 151024290 | - | KRAS | chr12 | 25361596 | - |
| intron-3UTR | ENST00000357235 | ENST00000311936 | CDC42SE1 | chr1 | 151024290 | - | KRAS | chr12 | 25361596 | - |
| intron-intron | ENST00000357235 | ENST00000557334 | CDC42SE1 | chr1 | 151024290 | - | KRAS | chr12 | 25361596 | - |
| intron-intron | ENST00000357235 | ENST00000256078 | CDC42SE1 | chr1 | 151024290 | - | KRAS | chr12 | 25361596 | - |
| intron-intron | ENST00000357235 | ENST00000556131 | CDC42SE1 | chr1 | 151024290 | - | KRAS | chr12 | 25361596 | - |
| intron-3UTR | ENST00000492796 | ENST00000311936 | CDC42SE1 | chr1 | 151024290 | - | KRAS | chr12 | 25361596 | - |
| intron-intron | ENST00000492796 | ENST00000557334 | CDC42SE1 | chr1 | 151024290 | - | KRAS | chr12 | 25361596 | - |
| intron-intron | ENST00000492796 | ENST00000256078 | CDC42SE1 | chr1 | 151024290 | - | KRAS | chr12 | 25361596 | - |
| intron-intron | ENST00000492796 | ENST00000556131 | CDC42SE1 | chr1 | 151024290 | - | KRAS | chr12 | 25361596 | - |
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FusionProtFeatures for CDC42SE1_KRAS |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| CDC42SE1 | KRAS |
| Probably involved in the organization of the actincytoskeleton by acting downstream of CDC42, inducing actinfilament assembly. Alters CDC42-induced cell shape changes. Inactivated T-cells, may play a role in CDC42-mediated F-actinaccumulation at the immunological synapse. May play a role inearly contractile events in phagocytosis in macrophages.{ECO:0000269|PubMed:10816584, ECO:0000269|PubMed:15840583,ECO:0000269|PubMed:17045588}. | Ras proteins bind GDP/GTP and possess intrinsic GTPaseactivity. Plays an important role in the regulation of cellproliferation (PubMed:23698361, PubMed:22711838). Plays a role inpromoting oncogenic events by inducing transcriptional silencingof tumor suppressor genes (TSGs) in colorectal cancer (CRC) cellsin a ZNF304-dependent manner (PubMed:24623306).{ECO:0000269|PubMed:22711838, ECO:0000269|PubMed:23698361,ECO:0000269|PubMed:24623306, ECO:0000305}. |
| 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 CDC42SE1_KRAS |
| 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 CDC42SE1_KRAS |
| 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 CDC42SE1_KRAS |
| 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 CDC42SE1_KRAS |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | CDC42SE1 | C0023893 | Liver Cirrhosis, Experimental | 1 | CTD_human |
| Tgene | KRAS | C0024121 | Lung Neoplasms | 31 | CTD_human |
| Tgene | KRAS | C0699791 | Stomach Carcinoma | 9 | HPO;UNIPROT |
| Tgene | KRAS | C0007131 | Non-Small Cell Lung Carcinoma | 6 | CTD_human |
| Tgene | KRAS | C0009375 | Colonic Neoplasms | 6 | CTD_human |
| Tgene | KRAS | C0030297 | Pancreatic Neoplasm | 6 | CTD_human;HPO |
| Tgene | KRAS | C0027659 | Neoplasms, Experimental | 5 | CTD_human |
| Tgene | KRAS | C0152013 | Adenocarcinoma of lung (disorder) | 5 | CTD_human |
| Tgene | KRAS | C3809005 | CARDIOFACIOCUTANEOUS SYNDROME 2 | 5 | UNIPROT |
| Tgene | KRAS | C0001430 | Adenoma | 4 | CTD_human |
| Tgene | KRAS | C0018923 | Hemangiosarcoma | 4 | CTD_human |
| Tgene | KRAS | C0028326 | Noonan Syndrome | 4 | CTD_human;ORPHANET |
| Tgene | KRAS | C0001418 | Adenocarcinoma | 3 | CTD_human |
| Tgene | KRAS | C0009404 | Colorectal Neoplasms | 3 | CTD_human |
| Tgene | KRAS | C1860991 | NOONAN SYNDROME 3 | 3 | CTD_human;UNIPROT |
| Tgene | KRAS | C0007137 | Squamous cell carcinoma | 2 | CTD_human |
| Tgene | KRAS | C0023903 | Liver neoplasms | 2 | CTD_human |
| Tgene | KRAS | C0038356 | Stomach Neoplasms | 2 | CTD_human |
| Tgene | KRAS | C0206698 | Cholangiocarcinoma | 2 | CTD_human |
| Tgene | KRAS | C0587248 | Costello syndrome (disorder) | 2 | CTD_human |
| Tgene | KRAS | C2239176 | Liver carcinoma | 2 | CTD_human |
| Tgene | KRAS | C0004114 | Astrocytoma | 1 | CTD_human |
| Tgene | KRAS | C0007528 | Cecal Neoplasms | 1 | CTD_human |
| Tgene | KRAS | C0007621 | Neoplastic Cell Transformation | 1 | CTD_human |
| Tgene | KRAS | C0014175 | Endometriosis | 1 | CTD_human |
| Tgene | KRAS | C0016978 | gallbladder neoplasm | 1 | CTD_human |
| Tgene | KRAS | C0023897 | Liver Diseases, Parasitic | 1 | CTD_human |
| Tgene | KRAS | C0023904 | Liver Neoplasms, Experimental | 1 | CTD_human |
| Tgene | KRAS | C0024299 | Lymphoma | 1 | CTD_human |
| Tgene | KRAS | C0026640 | Mouth Neoplasms | 1 | CTD_human |
| Tgene | KRAS | C0027627 | Neoplasm Metastasis | 1 | CTD_human |
| Tgene | KRAS | C0027819 | Neuroblastoma | 1 | CTD_human |
| Tgene | KRAS | C0030849 | Penile Neoplasms | 1 | CTD_human |
| Tgene | KRAS | C0040136 | Thyroid Neoplasm | 1 | CTD_human |
| Tgene | KRAS | C0042138 | Uterine Neoplasms | 1 | CTD_human |
| Tgene | KRAS | C0206682 | Follicular thyroid carcinoma | 1 | CTD_human |
| Tgene | KRAS | C0349639 | Juvenile Myelomonocytic Leukemia | 1 | CTD_human;HPO;ORPHANET |
| Tgene | KRAS | C0596263 | Carcinogenesis | 1 | CTD_human |
| Tgene | KRAS | C0887833 | Carcinoma, Pancreatic Ductal | 1 | CTD_human |
| Tgene | KRAS | C0919267 | ovarian neoplasm | 1 | CTD_human |
| Tgene | KRAS | C1275081 | Cardio-facio-cutaneous syndrome | 1 | CTD_human;ORPHANET |
| Tgene | KRAS | C2931822 | Nasopharyngeal carcinoma | 1 | CTD_human |
| Tgene | KRAS | C3495559 | Juvenile arthritis | 1 | CTD_human |
| Tgene | KRAS | C3854181 | Nevus sebaceous | 1 | CTD_human;HPO;ORPHANET |
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