|
||||||
|
 | |
| |
| |
| |
| |
|
Fusion gene ID: 17765 |
FusionGeneSummary for ISPD_ANKMY2 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: ISPD_ANKMY2 | Fusion gene ID: 17765 | Hgene | Tgene | Gene symbol | ISPD | ANKMY2 | Gene ID | 729920 | 57037 |
| Gene name | isoprenoid synthase domain containing | ankyrin repeat and MYND domain containing 2 | |
| Synonyms | MDDGA7|MDDGC7|Nip|hCG_1745121|hISPD | ZMYND20 | |
| Cytomap | 7p21.2 | 7p21.1 | |
| Type of gene | protein-coding | protein-coding | |
| Description | D-ribitol-5-phosphate cytidylyltransferase2-C-methyl-D-erythritol 4-phosphate cytidylyltransferase-like protein4-diphosphocytidyl-2C-methyl-D-erythritol synthase homolognotch1-induced proteintesticular tissue protein Li 97 | ankyrin repeat and MYND domain-containing protein 2 | |
| Modification date | 20180523 | 20180523 | |
| UniProtAcc | A4D126 | Q8IV38 | |
| Ensembl transtripts involved in fusion gene | ENST00000407010, ENST00000399310, ENST00000479493, | ENST00000306999, ENST00000421746, | |
| Fusion gene scores | * DoF score | 2 X 1 X 2=4 | 2 X 2 X 2=8 |
| # samples | 2 | 2 | |
| ** MAII score | log2(2/4*10)=2.32192809488736 | log2(2/8*10)=1.32192809488736 | |
| Context | PubMed: ISPD [Title/Abstract] AND ANKMY2 [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 | SARC | TCGA-QQ-A5VA-01A | ISPD | chr7 | 16255691 | - | ANKMY2 | chr7 | 16676080 | - |
| * 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 | ENST00000407010 | ENST00000306999 | ISPD | chr7 | 16255691 | - | ANKMY2 | chr7 | 16676080 | - |
| 5CDS-5UTR | ENST00000407010 | ENST00000421746 | ISPD | chr7 | 16255691 | - | ANKMY2 | chr7 | 16676080 | - |
| Frame-shift | ENST00000399310 | ENST00000306999 | ISPD | chr7 | 16255691 | - | ANKMY2 | chr7 | 16676080 | - |
| 5CDS-5UTR | ENST00000399310 | ENST00000421746 | ISPD | chr7 | 16255691 | - | ANKMY2 | chr7 | 16676080 | - |
| intron-3CDS | ENST00000479493 | ENST00000306999 | ISPD | chr7 | 16255691 | - | ANKMY2 | chr7 | 16676080 | - |
| intron-5UTR | ENST00000479493 | ENST00000421746 | ISPD | chr7 | 16255691 | - | ANKMY2 | chr7 | 16676080 | - |
Top |
FusionProtFeatures for ISPD_ANKMY2 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| ISPD | ANKMY2 |
| Cytidylyltransferase required for protein O-linkedmannosylation (PubMed:26687144, PubMed:27130732, PubMed:27601598,PubMed:22522420, PubMed:22522421). Catalyzes the formation of CDP-ribitol nucleotide sugar from D-ribitol 5-phosphate(PubMed:26687144, PubMed:27130732). CDP-ribitol is a substrate ofFKTN during the biosynthesis of the phosphorylated O-mannosyltrisaccharide (N-acetylgalactosamine-beta-3-N-acetylglucosamine-beta-4-(phosphate-6-)mannose), a carbohydrate structure present inalpha-dystroglycan (DAG1), which is required for binding lamininG-like domain-containing extracellular proteins with high affinity(PubMed:26687144, PubMed:27130732). Shows activity toward otherpentose phosphate sugars and mediates formation of CDP-ribulose orCDP-ribose using CTP and ribulose-5-phosphate or ribose-5-phosphate, respectively (PubMed:26687144). Not Involved indolichol production (PubMed:26687144).{ECO:0000269|PubMed:22522420, ECO:0000269|PubMed:22522421,ECO:0000269|PubMed:26687144, ECO:0000269|PubMed:27130732,ECO:0000269|PubMed:27601598}. | May be involved in the trafficking of signaling proteinsto the cilia. {ECO:0000250}. |
| 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 |
Top |
FusionGeneSequence for ISPD_ANKMY2 |
| 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). |
Top |
FusionGenePPI for ISPD_ANKMY2 |
| 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 |
| ISPD | ANKMY2 | TINF2, ACD, POT1, AARS, CTSC, DHPS, DTD1, LRSAM1, PARP6, PLIN3, RPRD1A, STAT5B, SURF2, ARIH1, HSF1, FKBP5, AGO3, RPS6KB2, METTL13, SKIV2L2, SSB, ARFGEF2, HNRNPF, KIF5C, PBDC1, DUSP8, GUCY1B3, KANSL3, ADCY3, HSP90AB3P, SNX4, AGO4, PTGES3, ADCY6, FKBP8, KLHL26, GUCY1A3, HSP90AA1, DNAAF1 |
| - 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 |
Top |
RelatedDrugs for ISPD_ANKMY2 |
| 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 |
Top |
RelatedDiseases for ISPD_ANKMY2 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | ISPD | C0265221 | Walker-Warburg congenital muscular dystrophy | 2 | CTD_human;ORPHANET |
| Hgene | ISPD | C3553330 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 7 | 2 | UNIPROT |
| Hgene | ISPD | C0015393 | Eye Abnormalities | 1 | CTD_human |
| Hgene | ISPD | C0020255 | Hydrocephalus | 1 | CTD_human |
| Hgene | ISPD | C0026848 | Myopathy | 1 | CTD_human |
| Hgene | ISPD | C4015095 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 7 | 1 | ORPHANET;UNIPROT |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
|