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Fusion gene ID: 42526 |
FusionGeneSummary for ZBTB4_SLC22A4 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: ZBTB4_SLC22A4 | Fusion gene ID: 42526 | Hgene | Tgene | Gene symbol | ZBTB4 | SLC22A4 | Gene ID | 57659 | 6583 |
| Gene name | zinc finger and BTB domain containing 4 | solute carrier family 22 member 4 | |
| Synonyms | KAISO-L1|ZNF903 | DFNB60|OCTN1 | |
| Cytomap | 17p13.1 | 5q31.1 | |
| Type of gene | protein-coding | protein-coding | |
| Description | zinc finger and BTB domain-containing protein 4KAISO-like zinc finger protein 1 | solute carrier family 22 member 4ET transporterdeafness, autosomal recessive 60ergothioneine transporterintegral membrane transport proteinorganic cation/carnitine transporter 1solute carrier family 22 (organic cation/ergothioneine transporter), mem | |
| Modification date | 20180523 | 20180522 | |
| UniProtAcc | Q9P1Z0 | Q9H015 | |
| Ensembl transtripts involved in fusion gene | ENST00000380599, ENST00000311403, | ENST00000200652, ENST00000491257, | |
| Fusion gene scores | * DoF score | 4 X 3 X 4=48 | 3 X 2 X 3=18 |
| # samples | 4 | 3 | |
| ** MAII score | log2(4/48*10)=-0.263034405833794 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). 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: ZBTB4 [Title/Abstract] AND SLC22A4 [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 | ZBTB4 | GO:0000122 | negative regulation of transcription by RNA polymerase II | 16354688 |
| Hgene | ZBTB4 | GO:0006974 | cellular response to DNA damage stimulus | 19448668 |
| Hgene | ZBTB4 | GO:0045892 | negative regulation of transcription, DNA-templated | 16354688 |
| Tgene | SLC22A4 | GO:0015697 | quaternary ammonium group transport | 9426230 |
| Tgene | SLC22A4 | GO:0015879 | carnitine transport | 16729965 |
| 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 | PRAD | TCGA-HC-8260-01A | ZBTB4 | chr17 | 7365738 | - | SLC22A4 | chr5 | 131670411 | + |
| * 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-3CDS | ENST00000380599 | ENST00000200652 | ZBTB4 | chr17 | 7365738 | - | SLC22A4 | chr5 | 131670411 | + |
| intron-intron | ENST00000380599 | ENST00000491257 | ZBTB4 | chr17 | 7365738 | - | SLC22A4 | chr5 | 131670411 | + |
| intron-3CDS | ENST00000311403 | ENST00000200652 | ZBTB4 | chr17 | 7365738 | - | SLC22A4 | chr5 | 131670411 | + |
| intron-intron | ENST00000311403 | ENST00000491257 | ZBTB4 | chr17 | 7365738 | - | SLC22A4 | chr5 | 131670411 | + |
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FusionProtFeatures for ZBTB4_SLC22A4 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| ZBTB4 | SLC22A4 |
| Transcriptional repressor with bimodal DNA-bindingspecificity. Represses transcription in a methyl-CpG-dependentmanner. Binds with a higher affinity to methylated CpGdinucleotides in the consensus sequence 5'-CGCG-3' but can alsobind to the non-methylated consensus sequence 5'-CTGCNA-3' alsoknown as the consensus kaiso binding site (KBS). Can also bindspecifically to a single methyl-CpG pair and can bindhemimethylated DNA but with a lower affinity compared tomethylated DNA (PubMed:16354688). Plays a role in postnatalmyogenesis, may be involved in the regulation of satellite cellsself-renewal (By similarity). {ECO:0000250|UniProtKB:Q5F293,ECO:0000269|PubMed:16354688}. | Sodium-ion dependent, low affinity carnitinetransporter. Probably transports one sodium ion with one moleculeof carnitine. Also transports organic cations such astetraethylammonium (TEA) without the involvement of sodium.Relative uptake activity ratio of carnitine to TEA is 1.78. A keysubstrate of this transporter seems to be ergothioneine (ET).{ECO:0000269|PubMed:10215651, ECO:0000269|PubMed:15795384}. |
| 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 ZBTB4_SLC22A4 |
| 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 ZBTB4_SLC22A4 |
| 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 |
| ZBTB4 | SIN3A, SIN3B, HIPK2, TP63, CBFA2T3, ZBTB17, PRDM5 | SLC22A4 | PDZK1 |
| - 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 ZBTB4_SLC22A4 |
| 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 |
| Tgene | SLC22A4 | Q9H015 | DB00583 | L-Carnitine | Solute carrier family 22 member 4 | small molecule | approved|investigational |
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RelatedDiseases for ZBTB4_SLC22A4 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | ZBTB4 | C0023893 | Liver Cirrhosis, Experimental | 1 | CTD_human |
| Tgene | SLC22A4 | C0010246 | Coxsackievirus Infections | 1 | CTD_human |
| Tgene | SLC22A4 | C0014378 | Enterovirus Infections | 1 | CTD_human |
| Tgene | SLC22A4 | C0027059 | Myocarditis | 1 | CTD_human |
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