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Fusion gene ID: 34023 |
FusionGeneSummary for SLC12A2_ATF5 |
Fusion gene summary |
Fusion gene information | Fusion gene name: SLC12A2_ATF5 | Fusion gene ID: 34023 | Hgene | Tgene | Gene symbol | SLC12A2 | ATF5 | Gene ID | 6558 | 22809 |
Gene name | solute carrier family 12 member 2 | activating transcription factor 5 | |
Synonyms | BSC|BSC2|NKCC1|PPP1R141 | ATFX|HMFN0395 | |
Cytomap | 5q23.3 | 19q13.33 | |
Type of gene | protein-coding | protein-coding | |
Description | solute carrier family 12 member 2basolateral Na-K-Cl symporterbumetanide-sensitive sodium-(potassium)-chloride cotransporter 1protein phosphatase 1, regulatory subunit 141solute carrier family 12 (sodium/potassium/chloride transporter), member 2solut | cyclic AMP-dependent transcription factor ATF-5cAMP-dependent transcription factor ATF-5transcription factor ATFx | |
Modification date | 20180523 | 20180523 | |
UniProtAcc | P55011 | Q9Y2D1 | |
Ensembl transtripts involved in fusion gene | ENST00000262461, ENST00000343225, ENST00000507791, | ENST00000595125, ENST00000423777, ENST00000600336, | |
Fusion gene scores | * DoF score | 9 X 6 X 4=216 | 5 X 5 X 2=50 |
# samples | 9 | 5 | |
** MAII score | log2(9/216*10)=-1.26303440583379 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(5/50*10)=0 | |
Context | PubMed: SLC12A2 [Title/Abstract] AND ATF5 [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 | SLC12A2 | GO:0015696 | ammonium transport | 12946942|18032481 |
Hgene | SLC12A2 | GO:0030321 | transepithelial chloride transport | 12946942 |
Hgene | SLC12A2 | GO:0070634 | transepithelial ammonium transport | 18032481 |
Tgene | ATF5 | GO:0006355 | regulation of transcription, DNA-templated | 20654631 |
Tgene | ATF5 | GO:0008285 | negative regulation of cell proliferation | 22528486 |
Tgene | ATF5 | GO:0045892 | negative regulation of transcription, DNA-templated | 22528486 |
Tgene | ATF5 | GO:0045893 | positive regulation of transcription, DNA-templated | 21212266|25512613 |
Tgene | ATF5 | GO:0045944 | positive regulation of transcription by RNA polymerase II | 16300731 |
Tgene | ATF5 | GO:0046605 | regulation of centrosome cycle | 26213385 |
Tgene | ATF5 | GO:1902750 | negative regulation of cell cycle G2/M phase transition | 22528486 |
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 | BQ322269 | SLC12A2 | chr5 | 127524250 | - | ATF5 | chr19 | 50436438 | - |
* 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 |
3UTR-3UTR | ENST00000262461 | ENST00000595125 | SLC12A2 | chr5 | 127524250 | - | ATF5 | chr19 | 50436438 | - |
3UTR-3UTR | ENST00000262461 | ENST00000423777 | SLC12A2 | chr5 | 127524250 | - | ATF5 | chr19 | 50436438 | - |
3UTR-intron | ENST00000262461 | ENST00000600336 | SLC12A2 | chr5 | 127524250 | - | ATF5 | chr19 | 50436438 | - |
intron-3UTR | ENST00000343225 | ENST00000595125 | SLC12A2 | chr5 | 127524250 | - | ATF5 | chr19 | 50436438 | - |
intron-3UTR | ENST00000343225 | ENST00000423777 | SLC12A2 | chr5 | 127524250 | - | ATF5 | chr19 | 50436438 | - |
intron-intron | ENST00000343225 | ENST00000600336 | SLC12A2 | chr5 | 127524250 | - | ATF5 | chr19 | 50436438 | - |
intron-3UTR | ENST00000507791 | ENST00000595125 | SLC12A2 | chr5 | 127524250 | - | ATF5 | chr19 | 50436438 | - |
intron-3UTR | ENST00000507791 | ENST00000423777 | SLC12A2 | chr5 | 127524250 | - | ATF5 | chr19 | 50436438 | - |
intron-intron | ENST00000507791 | ENST00000600336 | SLC12A2 | chr5 | 127524250 | - | ATF5 | chr19 | 50436438 | - |
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FusionProtFeatures for SLC12A2_ATF5 |
Main function of each fusion partner protein. (from UniProt) |
Hgene | Tgene |
SLC12A2 | ATF5 |
Electrically silent transporter system. Mediates sodiumand chloride reabsorption. Plays a vital role in the regulation ofionic balance and cell volume. | Transcription factor that either stimulates or repressesgene transcription through binding of different DNA regulatoryelements such as cAMP response element (CRE) (consensus: 5'-GTGACGT[AC][AG]-3'), ATF5-specific response element (ARE)(consensus: 5'-C[CT]TCT[CT]CCTT[AT]-3') but also the amino acidresponse element (AARE), present in many viral and cellularpromoters. Critically involved, often in a cell type-dependentmanner, in cell survival, proliferation, and differentiation(PubMed:10373550, PubMed:15358120, PubMed:21212266,PubMed:20654631). Its transcriptional activity is enhanced byCCND3 and slightly inhibited by CDK4 (PubMed:15358120). Importantregulator of the cerebral cortex formation, functions in cerebralcortical neuroprogenitor cells to maintain proliferation and toblock differentiation into neurons. Must be down-regulated inorder for such cells to exit the cycle and differentiate (Bysimilarity). Participates in the pathways by which SHH promotescerebellar granule neuron progenitor cells proliferation (Bysimilarity). Critical for survival of mature olfactory sensoryneurons (OSN), directs expression of OSN-specific genes (Bysimilarity). May be involved in osteogenic differentiation(PubMed:22442021). Promotes cell proliferation and survival byinducing the expression of EGR1 sinergistically with ELK1. Onceacetylated by EP300, binds to ARE sequences on target genespromoters, such as BCL2 and EGR1 (PubMed:21791614). Plays an anti-apoptotic role through the transcriptional regulation of BCL2,this function seems to be cell type-dependent (By similarity).Cooperates with NR1I3/CAR in the transcriptional activation ofCYP2B6 in liver (PubMed:18332083). In hepatic cells, repressesCRE-dependent transcription and inhibits proliferation by blockingat G2/M phase (PubMed:22528486, PubMed:18701499). May act as anegative regulator of IL1B transduction pathway in liver(PubMed:24379400). Upon IL1B stimulus, cooperates with NLK toactivate the transactivation activity of C/EBP subfamily members(PubMed:25512613). Besides its function of transcription factor,acts as a cofactor of CEBPB to activate CEBPA and promoteadipocyte differentiation (PubMed:24216764). Regulates centrosomedynamics in a cell-cycle- and centriole-age-dependent manner.Forms 9-foci symmetrical ring scaffold around the mother centrioleto control centrosome function and the interaction betweencentrioles and pericentriolar material (PubMed:26213385).{ECO:0000250|UniProtKB:O70191, ECO:0000250|UniProtKB:Q6P788,ECO:0000269|PubMed:10373550, ECO:0000269|PubMed:15358120,ECO:0000269|PubMed:18332083, ECO:0000269|PubMed:18701499,ECO:0000269|PubMed:20654631, ECO:0000269|PubMed:21212266,ECO:0000269|PubMed:21791614, ECO:0000269|PubMed:22442021,ECO:0000269|PubMed:22528486, ECO:0000269|PubMed:24216764,ECO:0000269|PubMed:24379400, ECO:0000269|PubMed:25512613,ECO:0000269|PubMed:26213385}. |
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 SLC12A2_ATF5 |
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 SLC12A2_ATF5 |
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 |
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RelatedDrugs for SLC12A2_ATF5 |
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 | SLC12A2 | P55011 | DB00887 | Bumetanide | Solute carrier family 12 member 2 | small molecule | approved |
Hgene | SLC12A2 | P55011 | DB01325 | Quinethazone | Solute carrier family 12 member 2 | small molecule | approved |
Hgene | SLC12A2 | P55011 | DB00761 | Potassium Chloride | Solute carrier family 12 member 2 | small molecule | approved|withdrawn |
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RelatedDiseases for SLC12A2_ATF5 |
Diseases associated with fusion partners. (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Hgene | SLC12A2 | C0036341 | Schizophrenia | 4 | PSYGENET |
Hgene | SLC12A2 | C0007222 | Cardiovascular Diseases | 1 | CTD_human |
Hgene | SLC12A2 | C0014544 | Epilepsy | 1 | CTD_human |
Hgene | SLC12A2 | C0014556 | Epilepsy, Temporal Lobe | 1 | CTD_human |
Hgene | SLC12A2 | C0020538 | Hypertensive disease | 1 | CTD_human |
Hgene | SLC12A2 | C0024667 | Animal Mammary Neoplasms | 1 | CTD_human |
Hgene | SLC12A2 | C0024668 | Mammary Neoplasms, Experimental | 1 | CTD_human |
Hgene | SLC12A2 | C0026650 | Movement Disorders | 1 | CTD_human |
Hgene | SLC12A2 | C0033578 | Prostatic Neoplasms | 1 | CTD_human |
Hgene | SLC12A2 | C0033975 | Psychotic Disorders | 1 | PSYGENET |
Hgene | SLC12A2 | C0271650 | Impaired glucose tolerance | 1 | CTD_human |
Tgene | ATF5 | C0005586 | Bipolar Disorder | 1 | PSYGENET |