|
||||||
|
 | |
| |
| |
| |
| |
|
Fusion gene ID: 6107 |
FusionGeneSummary for CCT4_AGA |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: CCT4_AGA | Fusion gene ID: 6107 | Hgene | Tgene | Gene symbol | CCT4 | AGA | Gene ID | 10575 | 175 |
| Gene name | chaperonin containing TCP1 subunit 4 | aspartylglucosaminidase | |
| Synonyms | CCT-DELTA|Cctd|SRB | AGU|ASRG|GA | |
| Cytomap | 2p15 | 4q34.3 | |
| Type of gene | protein-coding | protein-coding | |
| Description | T-complex protein 1 subunit deltaTCP-1-deltachaperonin containing TCP1, subunit 4 (delta)chaperonin containing t-complex polypeptide 1, delta subunitstimulator of TAR RNA-binding | N(4)-(beta-N-acetylglucosaminyl)-L-asparaginaseN4-(N-acetyl-beta-glucosaminyl)-L-asparagine amidaseaspartylglucosylamine deaspartylaseglycosylasparaginase | |
| Modification date | 20180523 | 20180523 | |
| UniProtAcc | P50991 | P20933 | |
| Ensembl transtripts involved in fusion gene | ENST00000394440, ENST00000461540, ENST00000544079, ENST00000544185, ENST00000538252, | ENST00000264595, ENST00000506853, | |
| Fusion gene scores | * DoF score | 4 X 5 X 2=40 | 3 X 3 X 2=18 |
| # samples | 5 | 3 | |
| ** MAII score | log2(5/40*10)=0.321928094887362 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | log2(3/18*10)=0.736965594166206 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | |
| Context | PubMed: CCT4 [Title/Abstract] AND AGA [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 | AGA | GO:0006517 | protein deglycosylation | 1281977 |
| 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 |
| ChiTaRS3.1 | X55330 | CCT4 | chr2 | 62095580 | - | AGA | chr4 | 178363591 | - |
| * 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 | ENST00000394440 | ENST00000264595 | CCT4 | chr2 | 62095580 | - | AGA | chr4 | 178363591 | - |
| intron-intron | ENST00000394440 | ENST00000506853 | CCT4 | chr2 | 62095580 | - | AGA | chr4 | 178363591 | - |
| intron-5UTR | ENST00000461540 | ENST00000264595 | CCT4 | chr2 | 62095580 | - | AGA | chr4 | 178363591 | - |
| intron-intron | ENST00000461540 | ENST00000506853 | CCT4 | chr2 | 62095580 | - | AGA | chr4 | 178363591 | - |
| intron-5UTR | ENST00000544079 | ENST00000264595 | CCT4 | chr2 | 62095580 | - | AGA | chr4 | 178363591 | - |
| intron-intron | ENST00000544079 | ENST00000506853 | CCT4 | chr2 | 62095580 | - | AGA | chr4 | 178363591 | - |
| intron-5UTR | ENST00000544185 | ENST00000264595 | CCT4 | chr2 | 62095580 | - | AGA | chr4 | 178363591 | - |
| intron-intron | ENST00000544185 | ENST00000506853 | CCT4 | chr2 | 62095580 | - | AGA | chr4 | 178363591 | - |
| intron-5UTR | ENST00000538252 | ENST00000264595 | CCT4 | chr2 | 62095580 | - | AGA | chr4 | 178363591 | - |
| intron-intron | ENST00000538252 | ENST00000506853 | CCT4 | chr2 | 62095580 | - | AGA | chr4 | 178363591 | - |
Top |
FusionProtFeatures for CCT4_AGA |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| CCT4 | AGA |
| Molecular chaperone; assists the folding of proteinsupon ATP hydrolysis. As part of the BBS/CCT complex may play arole in the assembly of BBSome, a complex involved in ciliogenesisregulating transports vesicles to the cilia. Known to play a role,in vitro, in the folding of actin and tubulin.{ECO:0000269|PubMed:20080638}. | Cleaves the GlcNAc-Asn bond which joins oligosaccharidesto the peptide of asparagine-linked glycoproteins.{ECO:0000269|PubMed:1703489, ECO:0000269|PubMed:1904874,ECO:0000269|PubMed:2401370}. |
| 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 CCT4_AGA |
| 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 CCT4_AGA |
| 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 |
| - 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 CCT4_AGA |
| 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 CCT4_AGA |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Tgene | AGA | C0268225 | Aspartylglucosaminuria | 4 | CTD_human;HPO;ORPHANET;UNIPROT |
| Tgene | AGA | C0036341 | Schizophrenia | 1 | PSYGENET |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
|