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Fusion gene ID: 28023 |
FusionGeneSummary for POMK_NKAIN3 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: POMK_NKAIN3 | Fusion gene ID: 28023 | Hgene | Tgene | Gene symbol | POMK | NKAIN3 | Gene ID | 84197 | 286183 |
| Gene name | protein-O-mannose kinase | sodium/potassium transporting ATPase interacting 3 | |
| Synonyms | MDDGA12|MDDGC12|SGK196 | FAM77D | |
| Cytomap | 8p11.21 | 8q12.3 | |
| Type of gene | protein-coding | protein-coding | |
| Description | protein O-mannose kinaseSugen kinase 196probable inactive protein kinase-like protein SgK196protein kinase-like protein SgK196 | sodium/potassium-transporting ATPase subunit beta-1-interacting protein 3Na(+)/K(+)-transporting ATPase subunit beta-1-interacting protein 3Na+/K+ transporting ATPase interacting 3family with sequence similarity 77, member D | |
| Modification date | 20180523 | 20180523 | |
| UniProtAcc | Q9H5K3 | Q8N8D7 | |
| Ensembl transtripts involved in fusion gene | ENST00000331373, | ENST00000519049, ENST00000523211, ENST00000328472, | |
| Fusion gene scores | * DoF score | 6 X 2 X 6=72 | 8 X 4 X 4=128 |
| # samples | 6 | 8 | |
| ** MAII score | log2(6/72*10)=-0.263034405833794 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(8/128*10)=-0.678071905112638 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: POMK [Title/Abstract] AND NKAIN3 [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 | POMK | GO:0006493 | protein O-linked glycosylation | 23929950 |
| Hgene | POMK | GO:0046835 | carbohydrate phosphorylation | 23929950 |
| 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 | LD | BRCA | TCGA-BH-A18T-01A | POMK | chr8 | 42958973 | + | NKAIN3 | chr8 | 63492098 | + |
| * 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-3UTR | ENST00000331373 | ENST00000519049 | POMK | chr8 | 42958973 | + | NKAIN3 | chr8 | 63492098 | + |
| 5CDS-3UTR | ENST00000331373 | ENST00000523211 | POMK | chr8 | 42958973 | + | NKAIN3 | chr8 | 63492098 | + |
| 5CDS-3UTR | ENST00000331373 | ENST00000328472 | POMK | chr8 | 42958973 | + | NKAIN3 | chr8 | 63492098 | + |
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FusionProtFeatures for POMK_NKAIN3 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| POMK | NKAIN3 |
| Protein O-mannose kinase that specifically mediatesphosphorylation at the 6-position of an O-mannose of thetrisaccharide (N-acetylgalactosamine (GalNAc)-beta-1,3-N-acetylglucosamine (GlcNAc)-beta-1,4-mannose) to generatephosphorylated O-mannosyl trisaccharide (N-acetylgalactosamine-beta-1,3-N-acetylglucosamine-beta-1,4-(phosphate-6-)mannose).Phosphorylated O-mannosyl trisaccharide is a carbohydratestructure present in alpha-dystroglycan (DAG1), which is requiredfor binding laminin G-like domain-containing extracellularproteins with high affinity. Only shows kinase activity when theGalNAc-beta-3-GlcNAc-beta-terminus is linked to the 4-position ofO-mannose, suggesting that this disaccharide serves as thesubstrate recognition motif. {ECO:0000269|PubMed:23519211,ECO:0000269|PubMed:23929950}. |
| 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 POMK_NKAIN3 |
| 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 POMK_NKAIN3 |
| 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 |
| POMK | CERS2, MBOAT7, GOLGA5, CANX, LRP5, LRP6, GOLIM4, GHITM, BRIP1, XYLT2, TMEM246, POMGNT1, POMT1, TYW1B, MOCS3, RDH11, FITM2, PKDCC, USP30, ALG5, KDSR, LETMD1, ATP5G1, TMBIM6, PIGM, SLC19A2, MTX1, B4GALT3, TMPPE, FAM69A, GNB2, SLC35F2, YIF1A, HBD, LPCAT3, CERS6, ZDHHC6, ALG10, TMEM39B, B4GALT1, RER1, ARV1, FAM134C, RBM14-RBM4, NAT14, DGAT1, TMEM120A, CYB5D2, TMEM120B, TNFSF9, S1PR2, PIGB, REEP4, TMEM56, SLC47A1, TCTN3, VIPR2, ND4, LPAR1, GPR21, C3AR1, CD79B, SLC22A18, GPR114, HCCS, GBA | NKAIN3 |
| - 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 POMK_NKAIN3 |
| 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 POMK_NKAIN3 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | POMK | C3808964 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 12 | 2 | UNIPROT |
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