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Fusion gene ID: 34561 |
FusionGeneSummary for SLC4A4_AUNIP |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: SLC4A4_AUNIP | Fusion gene ID: 34561 | Hgene | Tgene | Gene symbol | SLC4A4 | AUNIP | Gene ID | 8671 | 79000 |
| Gene name | solute carrier family 4 member 4 | aurora kinase A and ninein interacting protein | |
| Synonyms | HNBC1|KNBC|NBC1|NBC2|NBCe1-A|SLC4A5|hhNMC|kNBC1|pNBC | AIBP|C1orf135 | |
| Cytomap | 4q13.3 | 1p36.11 | |
| Type of gene | protein-coding | protein-coding | |
| Description | electrogenic sodium bicarbonate cotransporter 1Na(+)/HCO3(-) cotransportersodium bicarbonate cotransporter 1 (sodium bicarbonate cotransporter, kidney; sodium bicarbonate cotransporter, pancreas)solute carrier family 4 (sodium bicarbonate cotransporter | aurora kinase A and ninein-interacting proteinaurora A-binding protein | |
| Modification date | 20180523 | 20180523 | |
| UniProtAcc | Q9Y6R1 | Q9H7T9 | |
| Ensembl transtripts involved in fusion gene | ENST00000264485, ENST00000425175, ENST00000351898, ENST00000340595, ENST00000514331, ENST00000512686, | ENST00000538789, ENST00000481602, ENST00000374298, | |
| Fusion gene scores | * DoF score | 7 X 7 X 4=196 | 3 X 2 X 3=18 |
| # samples | 9 | 3 | |
| ** MAII score | log2(9/196*10)=-1.12285674778553 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: SLC4A4 [Title/Abstract] AND AUNIP [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 | SLC4A4 | GO:0006814 | sodium ion transport | 16769890 |
| Tgene | AUNIP | GO:0000724 | double-strand break repair via homologous recombination | 29042561 |
| Tgene | AUNIP | GO:2001033 | negative regulation of double-strand break repair via nonhomologous end joining | 29042561 |
| 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-KK-A7AZ-01A | SLC4A4 | chr4 | 72263370 | + | AUNIP | chr1 | 26162337 | - |
| * 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 | ENST00000264485 | ENST00000538789 | SLC4A4 | chr4 | 72263370 | + | AUNIP | chr1 | 26162337 | - |
| 5CDS-intron | ENST00000264485 | ENST00000481602 | SLC4A4 | chr4 | 72263370 | + | AUNIP | chr1 | 26162337 | - |
| 5CDS-intron | ENST00000264485 | ENST00000374298 | SLC4A4 | chr4 | 72263370 | + | AUNIP | chr1 | 26162337 | - |
| Frame-shift | ENST00000425175 | ENST00000538789 | SLC4A4 | chr4 | 72263370 | + | AUNIP | chr1 | 26162337 | - |
| 5CDS-intron | ENST00000425175 | ENST00000481602 | SLC4A4 | chr4 | 72263370 | + | AUNIP | chr1 | 26162337 | - |
| 5CDS-intron | ENST00000425175 | ENST00000374298 | SLC4A4 | chr4 | 72263370 | + | AUNIP | chr1 | 26162337 | - |
| Frame-shift | ENST00000351898 | ENST00000538789 | SLC4A4 | chr4 | 72263370 | + | AUNIP | chr1 | 26162337 | - |
| 5CDS-intron | ENST00000351898 | ENST00000481602 | SLC4A4 | chr4 | 72263370 | + | AUNIP | chr1 | 26162337 | - |
| 5CDS-intron | ENST00000351898 | ENST00000374298 | SLC4A4 | chr4 | 72263370 | + | AUNIP | chr1 | 26162337 | - |
| Frame-shift | ENST00000340595 | ENST00000538789 | SLC4A4 | chr4 | 72263370 | + | AUNIP | chr1 | 26162337 | - |
| 5CDS-intron | ENST00000340595 | ENST00000481602 | SLC4A4 | chr4 | 72263370 | + | AUNIP | chr1 | 26162337 | - |
| 5CDS-intron | ENST00000340595 | ENST00000374298 | SLC4A4 | chr4 | 72263370 | + | AUNIP | chr1 | 26162337 | - |
| 3UTR-3CDS | ENST00000514331 | ENST00000538789 | SLC4A4 | chr4 | 72263370 | + | AUNIP | chr1 | 26162337 | - |
| 3UTR-intron | ENST00000514331 | ENST00000481602 | SLC4A4 | chr4 | 72263370 | + | AUNIP | chr1 | 26162337 | - |
| 3UTR-intron | ENST00000514331 | ENST00000374298 | SLC4A4 | chr4 | 72263370 | + | AUNIP | chr1 | 26162337 | - |
| Frame-shift | ENST00000512686 | ENST00000538789 | SLC4A4 | chr4 | 72263370 | + | AUNIP | chr1 | 26162337 | - |
| 5CDS-intron | ENST00000512686 | ENST00000481602 | SLC4A4 | chr4 | 72263370 | + | AUNIP | chr1 | 26162337 | - |
| 5CDS-intron | ENST00000512686 | ENST00000374298 | SLC4A4 | chr4 | 72263370 | + | AUNIP | chr1 | 26162337 | - |
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FusionProtFeatures for SLC4A4_AUNIP |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| SLC4A4 | AUNIP |
| DNA-binding protein that accumulates at DNA double-strand breaks (DSBs) following DNA damage and promotes DNAresection and homologous recombination (PubMed:29042561). Servesas a sensor of DNA damage: binds DNA with a strong preference forDNA substrates that mimic structures generated at stalledreplication forks, and anchors RBBP8/CtIP to DSB sites to promoteDNA end resection and ensuing homologous recombination repair(PubMed:29042561). Inhibits non-homologous end joining (NHEJ)(PubMed:29042561). Required for the dynamic movement of AURKA atthe centrosomes and spindle apparatus during the cell cycle(PubMed:20596670). {ECO:0000269|PubMed:20596670,ECO:0000269|PubMed:29042561}. |
| 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 SLC4A4_AUNIP |
| 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 SLC4A4_AUNIP |
| 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 |
| SLC4A4 | SREBF2 | AUNIP | ELAVL1, PRMT6, AURKA, GRB2, PIK3R3, TRIM68 |
| - 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 SLC4A4_AUNIP |
| 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 |
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RelatedDiseases for SLC4A4_AUNIP |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | SLC4A4 | C1970309 | Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Mental Retardation | 3 | CTD_human;ORPHANET;UNIPROT |
| Hgene | SLC4A4 | C0001126 | Renal tubular acidosis | 1 | CTD_human |
| Hgene | SLC4A4 | C0008073 | Developmental Disabilities | 1 | CTD_human |
| Hgene | SLC4A4 | C0010038 | Corneal Opacity | 1 | CTD_human |
| Hgene | SLC4A4 | C0017601 | Glaucoma | 1 | CTD_human;HPO |
| Hgene | SLC4A4 | C0023893 | Liver Cirrhosis, Experimental | 1 | CTD_human |
| Hgene | SLC4A4 | C0086543 | Cataract | 1 | CTD_human;HPO |
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