|
Fusion gene ID: 5714 |
FusionGeneSummary for CBX4_DBI |
Fusion gene summary |
Fusion gene information | Fusion gene name: CBX4_DBI | Fusion gene ID: 5714 | Hgene | Tgene | Gene symbol | CBX4 | DBI | Gene ID | 8535 | 1622 |
Gene name | chromobox 4 | diazepam binding inhibitor, acyl-CoA binding protein | |
Synonyms | NBP16|PC2 | ACBD1|ACBP|CCK-RP|EP | |
Cytomap | 17q25.3 | 2q14.2 | |
Type of gene | protein-coding | protein-coding | |
Description | E3 SUMO-protein ligase CBX4NS5ATP1-binding protein 16Pc class 2 homologchromobox homolog 4 (Pc class homolog, Drosophila)chromobox protein homolog 4chromobox-like protein 4polycomb 2 homolog | acyl-CoA-binding proteinGABA receptor modulatoracyl coenzyme A binding proteinacyl-Coenzyme A binding domain containing 1cholecystokinin-releasing peptide, trypsin-sensitivediazepam binding inhibitor (GABA receptor modulator, acyl-CoA binding protein | |
Modification date | 20180522 | 20180519 | |
UniProtAcc | O00257 | P07108 | |
Ensembl transtripts involved in fusion gene | ENST00000269397, ENST00000448310, | ENST00000355857, ENST00000535617, ENST00000535757, ENST00000409094, ENST00000311521, ENST00000460901, ENST00000542275, ENST00000393103, | |
Fusion gene scores | * DoF score | 3 X 2 X 3=18 | 4 X 4 X 1=16 |
# samples | 3 | 4 | |
** MAII score | log2(3/18*10)=0.736965594166206 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | log2(4/16*10)=1.32192809488736 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | |
Context | PubMed: CBX4 [Title/Abstract] AND DBI [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 | CBX4 | GO:0045892 | negative regulation of transcription, DNA-templated | 18567530 |
Tgene | DBI | GO:0018345 | protein palmitoylation | 21079819 |
Tgene | DBI | GO:0036151 | phosphatidylcholine acyl-chain remodeling | 21079819 |
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 | AV752007 | CBX4 | chr17 | 77812419 | - | DBI | chr2 | 120124581 | + |
* 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 | ENST00000269397 | ENST00000355857 | CBX4 | chr17 | 77812419 | - | DBI | chr2 | 120124581 | + |
intron-5UTR | ENST00000269397 | ENST00000535617 | CBX4 | chr17 | 77812419 | - | DBI | chr2 | 120124581 | + |
intron-5UTR | ENST00000269397 | ENST00000535757 | CBX4 | chr17 | 77812419 | - | DBI | chr2 | 120124581 | + |
intron-5UTR | ENST00000269397 | ENST00000409094 | CBX4 | chr17 | 77812419 | - | DBI | chr2 | 120124581 | + |
intron-intron | ENST00000269397 | ENST00000311521 | CBX4 | chr17 | 77812419 | - | DBI | chr2 | 120124581 | + |
intron-intron | ENST00000269397 | ENST00000460901 | CBX4 | chr17 | 77812419 | - | DBI | chr2 | 120124581 | + |
intron-intron | ENST00000269397 | ENST00000542275 | CBX4 | chr17 | 77812419 | - | DBI | chr2 | 120124581 | + |
intron-intron | ENST00000269397 | ENST00000393103 | CBX4 | chr17 | 77812419 | - | DBI | chr2 | 120124581 | + |
intron-5UTR | ENST00000448310 | ENST00000355857 | CBX4 | chr17 | 77812419 | - | DBI | chr2 | 120124581 | + |
intron-5UTR | ENST00000448310 | ENST00000535617 | CBX4 | chr17 | 77812419 | - | DBI | chr2 | 120124581 | + |
intron-5UTR | ENST00000448310 | ENST00000535757 | CBX4 | chr17 | 77812419 | - | DBI | chr2 | 120124581 | + |
intron-5UTR | ENST00000448310 | ENST00000409094 | CBX4 | chr17 | 77812419 | - | DBI | chr2 | 120124581 | + |
intron-intron | ENST00000448310 | ENST00000311521 | CBX4 | chr17 | 77812419 | - | DBI | chr2 | 120124581 | + |
intron-intron | ENST00000448310 | ENST00000460901 | CBX4 | chr17 | 77812419 | - | DBI | chr2 | 120124581 | + |
intron-intron | ENST00000448310 | ENST00000542275 | CBX4 | chr17 | 77812419 | - | DBI | chr2 | 120124581 | + |
intron-intron | ENST00000448310 | ENST00000393103 | CBX4 | chr17 | 77812419 | - | DBI | chr2 | 120124581 | + |
Top |
FusionProtFeatures for CBX4_DBI |
Main function of each fusion partner protein. (from UniProt) |
Hgene | Tgene |
CBX4 | DBI |
E3 SUMO-protein ligase which facilitates SUMO1conjugation by UBE2I (PubMed:12679040). Involved in thesumoylation of HNRNPK, a p53/TP53 transcriptional coactivator,hence indirectly regulates p53/TP53 transcriptional activationresulting in p21/CDKN1A expression. Monosumoylates ZNF131(PubMed:22825850). {ECO:0000269|PubMed:12679040,ECO:0000269|PubMed:22825850}. Component of a Polycomb group (PcG) multiprotein PRC1-like complex, a complex class required to maintain thetranscriptionally repressive state of many genes, including Hoxgenes, throughout development (PubMed:12167701, PubMed:19636380,PubMed:21282530). PcG PRC1 complex acts via chromatin remodelingand modification of histones; it mediates monoubiquitination ofhistone H2A 'Lys-119', rendering chromatin heritably changed inits expressibility (PubMed:12167701, PubMed:19636380,PubMed:21282530). Binds to histone H3 trimethylated at 'Lys-9'(H3K9me3) (By similarity). Plays a role in the lineagedifferentiation of the germ layers in embryonic development (Bysimilarity). {ECO:0000250|UniProtKB:O55187,ECO:0000269|PubMed:12167701, ECO:0000269|PubMed:19636380,ECO:0000269|PubMed:21282530}. |
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 CBX4_DBI |
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 CBX4_DBI |
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 CBX4_DBI |
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 CBX4_DBI |
Diseases associated with fusion partners. (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Tgene | DBI | C0024667 | Animal Mammary Neoplasms | 1 | CTD_human |
Tgene | DBI | C0024668 | Mammary Neoplasms, Experimental | 1 | CTD_human |
Tgene | DBI | C0033975 | Psychotic Disorders | 1 | PSYGENET |
Tgene | DBI | C0036341 | Schizophrenia | 1 | PSYGENET |