![]() |
||||||
|
![]() | |
![]() | |
![]() | |
![]() | |
![]() | |
![]() |
Fusion gene ID: 34561 |
FusionGeneSummary for SLC4A4_AUNIP |
![]() |
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) |
![]() |
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 |
![]() (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 |
![]() * 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 | - |
Top |
FusionProtFeatures for SLC4A4_AUNIP |
![]() |
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}. |
![]() * 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 SLC4A4_AUNIP |
![]() (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 SLC4A4_AUNIP |
![]() |
![]() |
Hgene | Hgene's interactors | Tgene | Tgene's interactors |
SLC4A4 | SREBF2 | AUNIP | ELAVL1, PRMT6, AURKA, GRB2, PIK3R3, TRIM68 |
![]() |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
![]() |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
![]() |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
Top |
RelatedDrugs for SLC4A4_AUNIP |
![]() (DrugBank Version 5.1.0 2018-04-02) |
Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
Top |
RelatedDiseases for SLC4A4_AUNIP |
![]() (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 |