|
||||||
|
 | |
| |
| |
| |
| |
|
Fusion gene ID: 26318 |
FusionGeneSummary for PCYT1B_SIAH1 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: PCYT1B_SIAH1 | Fusion gene ID: 26318 | Hgene | Tgene | Gene symbol | PCYT1B | SIAH1 | Gene ID | 9468 | 6477 |
| Gene name | phosphate cytidylyltransferase 1, choline, beta | siah E3 ubiquitin protein ligase 1 | |
| Synonyms | CCTB|CTB | SIAH1A | |
| Cytomap | Xp22.11 | 16q12.1 | |
| Type of gene | protein-coding | protein-coding | |
| Description | choline-phosphate cytidylyltransferase BCCT BCCT-betaCT BCTP:phosphocholine cytidylyltransferase bphosphorylcholine transferase B | E3 ubiquitin-protein ligase SIAH1RING-type E3 ubiquitin transferase SIAH1seven in absentia homolog 1siah-1a | |
| Modification date | 20180523 | 20180523 | |
| UniProtAcc | Q9Y5K3 | Q8IUQ4 | |
| Ensembl transtripts involved in fusion gene | ENST00000379145, ENST00000356768, ENST00000379144, | ENST00000380006, ENST00000356721, ENST00000394725, ENST00000573005, | |
| Fusion gene scores | * DoF score | 2 X 2 X 2=8 | 2 X 2 X 2=8 |
| # samples | 3 | 2 | |
| ** MAII score | log2(3/8*10)=1.90689059560852 | log2(2/8*10)=1.32192809488736 | |
| Context | PubMed: PCYT1B [Title/Abstract] AND SIAH1 [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 |
| Tgene | SIAH1 | GO:0006511 | ubiquitin-dependent protein catabolic process | 23001567 |
| Tgene | SIAH1 | GO:0030163 | protein catabolic process | 11389840 |
| Tgene | SIAH1 | GO:0043065 | positive regulation of apoptotic process | 21185211 |
| 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 | LGG | TCGA-E1-5304-01A | PCYT1B | chrX | 24593247 | - | SIAH1 | chr16 | 48396341 | - |
| * 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-5UTR | ENST00000379145 | ENST00000380006 | PCYT1B | chrX | 24593247 | - | SIAH1 | chr16 | 48396341 | - |
| 5CDS-5UTR | ENST00000379145 | ENST00000356721 | PCYT1B | chrX | 24593247 | - | SIAH1 | chr16 | 48396341 | - |
| 5CDS-5UTR | ENST00000379145 | ENST00000394725 | PCYT1B | chrX | 24593247 | - | SIAH1 | chr16 | 48396341 | - |
| 5CDS-intron | ENST00000379145 | ENST00000573005 | PCYT1B | chrX | 24593247 | - | SIAH1 | chr16 | 48396341 | - |
| 5CDS-5UTR | ENST00000356768 | ENST00000380006 | PCYT1B | chrX | 24593247 | - | SIAH1 | chr16 | 48396341 | - |
| 5CDS-5UTR | ENST00000356768 | ENST00000356721 | PCYT1B | chrX | 24593247 | - | SIAH1 | chr16 | 48396341 | - |
| 5CDS-5UTR | ENST00000356768 | ENST00000394725 | PCYT1B | chrX | 24593247 | - | SIAH1 | chr16 | 48396341 | - |
| 5CDS-intron | ENST00000356768 | ENST00000573005 | PCYT1B | chrX | 24593247 | - | SIAH1 | chr16 | 48396341 | - |
| 5CDS-5UTR | ENST00000379144 | ENST00000380006 | PCYT1B | chrX | 24593247 | - | SIAH1 | chr16 | 48396341 | - |
| 5CDS-5UTR | ENST00000379144 | ENST00000356721 | PCYT1B | chrX | 24593247 | - | SIAH1 | chr16 | 48396341 | - |
| 5CDS-5UTR | ENST00000379144 | ENST00000394725 | PCYT1B | chrX | 24593247 | - | SIAH1 | chr16 | 48396341 | - |
| 5CDS-intron | ENST00000379144 | ENST00000573005 | PCYT1B | chrX | 24593247 | - | SIAH1 | chr16 | 48396341 | - |
Top |
FusionProtFeatures for PCYT1B_SIAH1 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| PCYT1B | SIAH1 |
| Controls phosphatidylcholine synthesis. | E3 ubiquitin-protein ligase that mediates ubiquitinationand subsequent proteasomal degradation of target proteins. E3ubiquitin ligases accept ubiquitin from an E2 ubiquitin-conjugating enzyme in the form of a thioester and then directlytransfers the ubiquitin to targeted substrates. Mediates E3ubiquitin ligase activity either through direct binding tosubstrates or by functioning as the essential RING domain subunitof larger E3 complexes. Triggers the ubiquitin-mediateddegradation of many substrates, including proteins involved intranscription regulation (ELL2, MYB, POU2AF1, PML and RBBP8), acell surface receptor (DCC), the cell-surface receptor-typetyrosine kinase FLT3, the cytoplasmic signal transductionmolecules (KLF10/TIEG1 and NUMB), an antiapoptotic protein (BAG1),a microtubule motor protein (KIF22), a protein involved insynaptic vesicle function in neurons (SYP), a structural protein(CTNNB1) and SNCAIP. Confers constitutive instability to HIPK2through proteasomal degradation. It is thereby involved in manycellular processes such as apoptosis, tumor suppression, cellcycle, axon guidance, transcription regulation, spermatogenesisand TNF-alpha signaling. Has some overlapping function with SIAH2.Induces apoptosis in cooperation with PEG3. Upon nitric oxid (NO)generation that follows apoptotic stimulation, interacts with S-nitrosylated GAPDH, mediating the translocation of GAPDH to thenucleus. GAPDH acts as a stabilizer of SIAH1, facilitating thedegradation of nuclear proteins. {ECO:0000269|PubMed:10747903,ECO:0000269|PubMed:11146551, ECO:0000269|PubMed:11389839,ECO:0000269|PubMed:11389840, ECO:0000269|PubMed:11483517,ECO:0000269|PubMed:11483518, ECO:0000269|PubMed:11752454,ECO:0000269|PubMed:12072443, ECO:0000269|PubMed:14506261,ECO:0000269|PubMed:14645235, ECO:0000269|PubMed:14654780,ECO:0000269|PubMed:15064394, ECO:0000269|PubMed:16085652,ECO:0000269|PubMed:18536714, ECO:0000269|PubMed:19224863,ECO:0000269|PubMed:20508617, ECO:0000269|PubMed:22483617,ECO:0000269|PubMed:9334332, ECO:0000269|PubMed:9858595}. |
| 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 PCYT1B_SIAH1 |
| 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 PCYT1B_SIAH1 |
| 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 |
| PCYT1B | ACTB, ACTA2, ACTA1, KIAA0368, APP, PAXIP1 | SIAH1 | KIF22, PEG10, CACYBP, AFF4, KHDRBS3, RBBP8, DAB1, APC, PEG3, UBE2E3, UBE2D1, TBL1X, VAV1, BAG1, SIAH1, POU2AF1, NUMB, DCC, HIF1AN, TRIB3, PIAS1, PIAS2, UBE2I, PIAS3, UBE2D2, UBE2D3, UBE2D4, UBE2N, UBE2K, UBE2V2, PKD1, SNCAIP, RUNX1, RLIM, UBE2L6, PML, RARA, PHC2, UBE2E2, PLCE1, EEF1D, HIPK2, HERPUD1, CTNNB1, XIAP, SEPT4, ATXN7, SNCA, PSMC5, PSMC6, TERF2, FLT3, PARD3, ELL2, USP19, AFF1, SH3RF1, HTT, KLF10, GAPDH, HIPK1, RNF2, ATN1, NPM1, PUF60, TNK2, HIPK3, GRM5, TRIM8, MYD88, TXN, TFDP1, STAT3, TP53BP2, NUMBL, RAPH1, MAPRE3, COPS5, AQP1, TRIM23, BCL6, CAPG, CDC34, PHC1, FLI1, INHA, KCNJ10, KIFC3, MAB21L1, MX1, PFKM, PVRL2, PYGB, TRIM27, RPL27A, MAPK12, SDCBP, NELFA, ZNF148, DNALI1, FZD9, UXT, CDC23, CDK5R1, SYT7, RAB33A, RAD51AP1, MAPKBP1, KIF1B, RAD54L2, PRPF31, DNAJC15, LACTB2, DDX41, TOLLIP, ZCCHC10, QRICH1, WDYHV1, FAM90A1, C14orf105, TBC1D22B, KIAA1217, ZNF512B, AASDHPPT, ZMAT3, NOL6, OTUB2, ZFYVE21, TMEM43, ZNF671, KIAA0319L, ARMC9, KIAA1683, ZBP1, GDPD5, TRIM7, KATNAL1, SPATC1L, RPS19BP1, PTPMT1, EXOC3-AS1, HIST4H4, PRR20A, SPATA4, MOB3C, UPP2, MTIF3, ZCCHC13, OPRM1, OPRD1, OPRK1, SYP, MAP3K5, DLD, SIAH2, JSRP1, LATS2, MCM2, PRR20E, EXOC3L2, LMNA |
| - 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 PCYT1B_SIAH1 |
| 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 |
| Hgene | PCYT1B | Q9Y5K3 | DB00122 | Choline | Choline-phosphate cytidylyltransferase B | small molecule | approved|nutraceutical |
Top |
RelatedDiseases for PCYT1B_SIAH1 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | PCYT1B | C3495559 | Juvenile arthritis | 1 | CTD_human |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
|