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Fusion gene ID: 1831 |
FusionGeneSummary for ANKRD28_EYS |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: ANKRD28_EYS | Fusion gene ID: 1831 | Hgene | Tgene | Gene symbol | ANKRD28 | EYS | Gene ID | 23243 | 346007 |
| Gene name | ankyrin repeat domain 28 | eyes shut homolog (Drosophila) | |
| Synonyms | PITK|PPP1R65 | C6orf178|C6orf179|C6orf180|EGFL10|EGFL11|RP25|SPAM|bA166P24.2|bA307F22.3|bA74E24.1|dJ1018A4.2|dJ22I17.2|dJ303F19.1 | |
| Cytomap | 3p25.1 | 6q12 | |
| Type of gene | protein-coding | protein-coding | |
| Description | serine/threonine-protein phosphatase 6 regulatory ankyrin repeat subunit APP6-ARS-Aankyrin repeat domain-containing protein 28phosphatase interactor targeting K proteinphosphatase interactor targeting protein hnRNP Kprotein phosphatase 1, regulatory | protein eyes shut homologEGF-like-domain, multiple 10EGF-like-domain, multiple 11epidermal growth factor-like protein 10epidermal growth factor-like protein 11protein spacemaker homolog | |
| Modification date | 20180519 | 20180519 | |
| UniProtAcc | O15084 | Q5T1H1 | |
| Ensembl transtripts involved in fusion gene | ENST00000383777, ENST00000399451, ENST00000497037, | ENST00000503581, ENST00000370621, ENST00000370616, ENST00000393380, ENST00000342421, ENST00000370618, ENST00000486069, | |
| Fusion gene scores | * DoF score | 11 X 10 X 10=1100 | 26 X 15 X 12=4680 |
| # samples | 12 | 27 | |
| ** MAII score | log2(12/1100*10)=-3.1963972128035 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(27/4680*10)=-4.11547721741994 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: ANKRD28 [Title/Abstract] AND EYS [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 | LD | BRCA | TCGA-A8-A06Q-01A | ANKRD28 | chr3 | 15855747 | - | EYS | chr6 | 66205886 | - |
| * 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-5UTR | ENST00000383777 | ENST00000503581 | ANKRD28 | chr3 | 15855747 | - | EYS | chr6 | 66205886 | - |
| intron-5UTR | ENST00000383777 | ENST00000370621 | ANKRD28 | chr3 | 15855747 | - | EYS | chr6 | 66205886 | - |
| intron-intron | ENST00000383777 | ENST00000370616 | ANKRD28 | chr3 | 15855747 | - | EYS | chr6 | 66205886 | - |
| intron-5UTR | ENST00000383777 | ENST00000393380 | ANKRD28 | chr3 | 15855747 | - | EYS | chr6 | 66205886 | - |
| intron-5UTR | ENST00000383777 | ENST00000342421 | ANKRD28 | chr3 | 15855747 | - | EYS | chr6 | 66205886 | - |
| intron-5UTR | ENST00000383777 | ENST00000370618 | ANKRD28 | chr3 | 15855747 | - | EYS | chr6 | 66205886 | - |
| intron-intron | ENST00000383777 | ENST00000486069 | ANKRD28 | chr3 | 15855747 | - | EYS | chr6 | 66205886 | - |
| intron-5UTR | ENST00000399451 | ENST00000503581 | ANKRD28 | chr3 | 15855747 | - | EYS | chr6 | 66205886 | - |
| intron-5UTR | ENST00000399451 | ENST00000370621 | ANKRD28 | chr3 | 15855747 | - | EYS | chr6 | 66205886 | - |
| intron-intron | ENST00000399451 | ENST00000370616 | ANKRD28 | chr3 | 15855747 | - | EYS | chr6 | 66205886 | - |
| intron-5UTR | ENST00000399451 | ENST00000393380 | ANKRD28 | chr3 | 15855747 | - | EYS | chr6 | 66205886 | - |
| intron-5UTR | ENST00000399451 | ENST00000342421 | ANKRD28 | chr3 | 15855747 | - | EYS | chr6 | 66205886 | - |
| intron-5UTR | ENST00000399451 | ENST00000370618 | ANKRD28 | chr3 | 15855747 | - | EYS | chr6 | 66205886 | - |
| intron-intron | ENST00000399451 | ENST00000486069 | ANKRD28 | chr3 | 15855747 | - | EYS | chr6 | 66205886 | - |
| intron-5UTR | ENST00000497037 | ENST00000503581 | ANKRD28 | chr3 | 15855747 | - | EYS | chr6 | 66205886 | - |
| intron-5UTR | ENST00000497037 | ENST00000370621 | ANKRD28 | chr3 | 15855747 | - | EYS | chr6 | 66205886 | - |
| intron-intron | ENST00000497037 | ENST00000370616 | ANKRD28 | chr3 | 15855747 | - | EYS | chr6 | 66205886 | - |
| intron-5UTR | ENST00000497037 | ENST00000393380 | ANKRD28 | chr3 | 15855747 | - | EYS | chr6 | 66205886 | - |
| intron-5UTR | ENST00000497037 | ENST00000342421 | ANKRD28 | chr3 | 15855747 | - | EYS | chr6 | 66205886 | - |
| intron-5UTR | ENST00000497037 | ENST00000370618 | ANKRD28 | chr3 | 15855747 | - | EYS | chr6 | 66205886 | - |
| intron-intron | ENST00000497037 | ENST00000486069 | ANKRD28 | chr3 | 15855747 | - | EYS | chr6 | 66205886 | - |
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FusionProtFeatures for ANKRD28_EYS |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| ANKRD28 | EYS |
| Putative regulatory subunit of protein phosphatase 6(PP6) that may be involved in the recognition of phosphoproteinsubstrates. Involved in the PP6-mediated dephosphorylation ofNFKBIE opposing its degradation in response to TNF-alpha.Selectively inhibits the phosphatase activity of PPP1C. TargetsPPP1C to modulate HNRPK phosphorylation.{ECO:0000269|PubMed:16564677, ECO:0000269|PubMed:18186651}. |
| 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 ANKRD28_EYS |
| 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 ANKRD28_EYS |
| 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 |
| ANKRD28 | TBK1, USP21, USP49, PLK1, PPP6C, SIRT7, AP2M1, BRCA1, ZNF512B, TGM2, CSNK2B, AGPAT2, FBXO6, USP10, ACACB, AKAP8L, ANKRD44, APC, ARHGEF2, CEP192, DNAJB1, EPS8, FAM175B, FAM193A, FBF1, HECTD1, CEP162, KRI1, MAGED1, MTMR3, NEK4, NFATC4, NOTCH2, PLEKHG1, PPP1R9A, PPP1R9B, PPP6R1, PPP6R2, PPP6R3, RAD21, RASSF8, RCN2, SDCCAG3, SEC16A, SHKBP1, SMC1A, SMC3, SNX18, TBKBP1, TRIM41, UBR5, MOB1A, MOB1B, CTTNBP2NL, FLNC, LEO1, HOXC4, NECAP2, SDCBP, FOXD4L6, DCLRE1C, PLK2, NTRK1, CEP128, CEP44, CNTRL, ODF2, RPGRIP1L, CEP19, LCA5, XRCC6, FOXK1, FOXK2, ZNRF2, ZNF574, TRMT2A, ZNF785, CIRH1A, CAMK4, CDKL1, MRPS7, DFNB31, TRIM25 | EYS | EGFR |
| - 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 ANKRD28_EYS |
| 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 ANKRD28_EYS |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Tgene | EYS | C1864446 | Retinitis Pigmentosa 25 | 2 | CTD_human;UNIPROT |
| Tgene | EYS | C0035334 | Retinitis Pigmentosa | 1 | CTD_human;ORPHANET |
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