|
||||||
|
 | |
| |
| |
| |
| |
|
Fusion gene ID: 43241 |
FusionGeneSummary for ZNF350_SLC12A5 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: ZNF350_SLC12A5 | Fusion gene ID: 43241 | Hgene | Tgene | Gene symbol | ZNF350 | SLC12A5 | Gene ID | 59348 | 57468 |
| Gene name | zinc finger protein 350 | solute carrier family 12 member 5 | |
| Synonyms | ZBRK1|ZFQR | EIEE34|EIG14|KCC2|hKCC2 | |
| Cytomap | 19q13.41 | 20q13.12 | |
| Type of gene | protein-coding | protein-coding | |
| Description | zinc finger protein 350KRAB zinc finger protein ZFQRzinc finger and BRCA1-interacting protein with a KRAB domain 1zinc finger protein ZBRK1 | solute carrier family 12 member 5K-Cl cotransporter 2electroneutral potassium-chloride cotransporter 2erythroid K-Cl cotransporter 2neuronal K-Cl cotransportersolute carrier family 12 (potassium/chloride transporter), member 5 | |
| Modification date | 20180523 | 20180523 | |
| UniProtAcc | Q9GZX5 | Q9H2X9 | |
| Ensembl transtripts involved in fusion gene | ENST00000243644, ENST00000600703, | ENST00000454036, ENST00000413737, ENST00000608944, ENST00000372315, ENST00000243964, | |
| Fusion gene scores | * DoF score | 1 X 1 X 1=1 | 1 X 1 X 1=1 |
| # samples | 1 | 1 | |
| ** MAII score | log2(1/1*10)=3.32192809488736 | log2(1/1*10)=3.32192809488736 | |
| Context | PubMed: ZNF350 [Title/Abstract] AND SLC12A5 [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 | ZNF350 | GO:0000122 | negative regulation of transcription by RNA polymerase II | 11090615 |
| Hgene | ZNF350 | GO:0006355 | regulation of transcription, DNA-templated | 11090615 |
| Hgene | ZNF350 | GO:0045892 | negative regulation of transcription, DNA-templated | 11090615 |
| Tgene | SLC12A5 | GO:0006811 | ion transport | 12106695 |
| Tgene | SLC12A5 | GO:0006873 | cellular ion homeostasis | 12106695 |
| Tgene | SLC12A5 | GO:0006971 | hypotonic response | 12106695 |
| Tgene | SLC12A5 | GO:0030644 | cellular chloride ion homeostasis | 26333769 |
| Tgene | SLC12A5 | GO:0060996 | dendritic spine development | 24668262 |
| 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 | OV | TCGA-23-1024-01A | ZNF350 | chr19 | 52477599 | - | SLC12A5 | chr20 | 44669012 | + |
| * 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 | ENST00000243644 | ENST00000454036 | ZNF350 | chr19 | 52477599 | - | SLC12A5 | chr20 | 44669012 | + |
| 5CDS-intron | ENST00000243644 | ENST00000413737 | ZNF350 | chr19 | 52477599 | - | SLC12A5 | chr20 | 44669012 | + |
| 5CDS-intron | ENST00000243644 | ENST00000608944 | ZNF350 | chr19 | 52477599 | - | SLC12A5 | chr20 | 44669012 | + |
| 5CDS-intron | ENST00000243644 | ENST00000372315 | ZNF350 | chr19 | 52477599 | - | SLC12A5 | chr20 | 44669012 | + |
| 5CDS-intron | ENST00000243644 | ENST00000243964 | ZNF350 | chr19 | 52477599 | - | SLC12A5 | chr20 | 44669012 | + |
| 5UTR-3CDS | ENST00000600703 | ENST00000454036 | ZNF350 | chr19 | 52477599 | - | SLC12A5 | chr20 | 44669012 | + |
| 5UTR-intron | ENST00000600703 | ENST00000413737 | ZNF350 | chr19 | 52477599 | - | SLC12A5 | chr20 | 44669012 | + |
| 5UTR-intron | ENST00000600703 | ENST00000608944 | ZNF350 | chr19 | 52477599 | - | SLC12A5 | chr20 | 44669012 | + |
| 5UTR-intron | ENST00000600703 | ENST00000372315 | ZNF350 | chr19 | 52477599 | - | SLC12A5 | chr20 | 44669012 | + |
| 5UTR-intron | ENST00000600703 | ENST00000243964 | ZNF350 | chr19 | 52477599 | - | SLC12A5 | chr20 | 44669012 | + |
Top |
FusionProtFeatures for ZNF350_SLC12A5 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| ZNF350 | SLC12A5 |
| Transcriptional repressor. Binds to a specific sequence,5'-GGGxxxCAGxxxTTT-3', within GADD45 intron 3.{ECO:0000269|PubMed:11090615}. | Mediates electroneutral potassium-chloride cotransportin mature neurons and is required for neuronal Cl(-) homeostasis.As major extruder of intracellular chloride, it establishes thelow neuronal Cl(-) levels required for chloride influx afterbinding of GABA-A and glycine to their receptors, with subsequenthyperpolarization and neuronal inhibition (By similarity).Involved in the regulation of dendritic spine formation andmaturation (PubMed:24668262). {ECO:0000250|UniProtKB:Q63633,ECO:0000269|PubMed:24668262}. |
| 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 ZNF350_SLC12A5 |
| 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 ZNF350_SLC12A5 |
| 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 |
| ZNF350 | RNF11, BRCA1, TRIM28, RBBP8, NEK1, VHL, EP300, USP21 | SLC12A5 | NUFIP1, DGUOK |
| - 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 ZNF350_SLC12A5 |
| 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 | SLC12A5 | Q9H2X9 | DB00887 | Bumetanide | Solute carrier family 12 member 5 | small molecule | approved |
| Tgene | SLC12A5 | Q9H2X9 | DB00761 | Potassium Chloride | Solute carrier family 12 member 5 | small molecule | approved|withdrawn |
Top |
RelatedDiseases for ZNF350_SLC12A5 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Tgene | SLC12A5 | C0036341 | Schizophrenia | 3 | PSYGENET |
| Tgene | SLC12A5 | C4225245 | EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 14 | 3 | UNIPROT |
| Tgene | SLC12A5 | C0014544 | Epilepsy | 2 | CTD_human |
| Tgene | SLC12A5 | C0014556 | Epilepsy, Temporal Lobe | 1 | CTD_human |
| Tgene | SLC12A5 | C0020429 | Hyperalgesia | 1 | CTD_human |
| Tgene | SLC12A5 | C0036572 | Seizures | 1 | CTD_human |
| Tgene | SLC12A5 | C0038220 | Status Epilepticus | 1 | CTD_human |
| Tgene | SLC12A5 | C0525045 | Mood Disorders | 1 | PSYGENET |
| Tgene | SLC12A5 | C4225257 | EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 34 | 1 | UNIPROT |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
|