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Fusion gene ID: 18228 |
FusionGeneSummary for KCMF1_GGCX |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: KCMF1_GGCX | Fusion gene ID: 18228 | Hgene | Tgene | Gene symbol | KCMF1 | GGCX | Gene ID | 56888 | 2677 |
| Gene name | potassium channel modulatory factor 1 | gamma-glutamyl carboxylase | |
| Synonyms | DEBT91|FIGC|PCMF|ZZZ1 | VKCFD1 | |
| Cytomap | 2p11.2 | 2p11.2 | |
| Type of gene | protein-coding | protein-coding | |
| Description | E3 ubiquitin-protein ligase KCMF1FGF-induced in gastric cancerFGF-induced ubiquitin-protein ligase in gastric cancersRING-type E3 ubiquitin transferase KCMF1ZZ-type zinc finger-containing protein 1differentially expressed in branching tubulogenesis 9 | vitamin K-dependent gamma-carboxylasepeptidyl-glutamate 4-carboxylase | |
| Modification date | 20180519 | 20180519 | |
| UniProtAcc | Q9P0J7 | P38435 | |
| Ensembl transtripts involved in fusion gene | ENST00000409785, | ENST00000233838, ENST00000430215, ENST00000473665, | |
| Fusion gene scores | * DoF score | 6 X 6 X 5=180 | 5 X 5 X 4=100 |
| # samples | 8 | 5 | |
| ** MAII score | log2(8/180*10)=-1.16992500144231 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(5/100*10)=-1 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: KCMF1 [Title/Abstract] AND GGCX [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 |
| TCGA | RV | PRAD | TCGA-HC-A76X-01A | KCMF1 | chr2 | 85198590 | + | GGCX | chr2 | 85783383 | - |
| * 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 |
| Frame-shift | ENST00000409785 | ENST00000233838 | KCMF1 | chr2 | 85198590 | + | GGCX | chr2 | 85783383 | - |
| Frame-shift | ENST00000409785 | ENST00000430215 | KCMF1 | chr2 | 85198590 | + | GGCX | chr2 | 85783383 | - |
| 5CDS-intron | ENST00000409785 | ENST00000473665 | KCMF1 | chr2 | 85198590 | + | GGCX | chr2 | 85783383 | - |
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FusionProtFeatures for KCMF1_GGCX |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| KCMF1 | GGCX |
| Has intrinsic E3 ubiquitin ligase activity and promotesubiquitination. {ECO:0000269|PubMed:15581609}. | Mediates the vitamin K-dependent carboxylation ofglutamate residues to calcium-binding gamma-carboxyglutamate (Gla)residues with the concomitant conversion of the reducedhydroquinone form of vitamin K to vitamin K epoxide.{ECO:0000269|PubMed:17073445}. |
| 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 KCMF1_GGCX |
| 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 KCMF1_GGCX |
| 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 |
| KCMF1 | GRK5, VCP, SOX2, BYSL, EIF3L, FLNC, HDLBP, HERC1, IKBKG, PNO1, PSMC1, PSMC5, PSMD11, PSMD12, PSMD13, PSMD3, PSMD7, PSMD8, RPS13, TJP2, TXNL1, UBR4, UCHL5, WDR26, WIBG, KCMF1, UBE2D2, UBC, FIGF, TFDP3, ABHD10, SARS2, IDH2, CEP85, NIPSNAP3A, MRS2, TESPA1, POGLUT1, EDA, CHIA, CD96, CST9, RASSF9, RASSF10, UBE2A, UBE2B, NIPSNAP1, SSBP1, ACOT9, NUP188, OGT, NUP93, NUP214, PRCP, QARS, HSPB1, KRAS, MED20, XPO1, POU5F1, A1BG, FSTL4, C15orf27, VWA5A, TRIM25 | GGCX | FBXO6, DCP2, SRPK2, FGD1, AP1S2, TERF2IP, FAM46A, TMCO3, TRIM25 |
| - 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 KCMF1_GGCX |
| 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 | GGCX | P38435 | DB00036 | Coagulation factor VIIa Recombinant Human | Vitamin K-dependent gamma-carboxylase | biotech | approved |
| Tgene | GGCX | P38435 | DB00100 | Coagulation Factor IX (Recombinant) | Vitamin K-dependent gamma-carboxylase | biotech | approved|investigational |
| Tgene | GGCX | P38435 | DB01022 | Phylloquinone | Vitamin K-dependent gamma-carboxylase | small molecule | approved|investigational |
| Tgene | GGCX | P38435 | DB00055 | Drotrecogin alfa | Vitamin K-dependent gamma-carboxylase | biotech | approved|investigational|withdrawn |
| Tgene | GGCX | P38435 | DB00142 | Glutamic Acid | Vitamin K-dependent gamma-carboxylase | small molecule | approved|nutraceutical |
| Tgene | GGCX | P38435 | DB00170 | Menadione | Vitamin K-dependent gamma-carboxylase | small molecule | approved|nutraceutical |
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RelatedDiseases for KCMF1_GGCX |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Tgene | GGCX | C1848534 | VITAMIN K-DEPENDENT CLOTTING FACTORS, COMBINED DEFICIENCY OF, 1 | 4 | CTD_human;ORPHANET;UNIPROT |
| Tgene | GGCX | C0005779 | Blood Coagulation Disorders | 1 | CTD_human |
| Tgene | GGCX | C1835813 | Pseudoxanthoma Elasticum-Like Disorder with Multiple Coagulation Factor Deficiency | 1 | CTD_human;ORPHANET;UNIPROT |
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