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Fusion gene ID: 34564 |
FusionGeneSummary for SLC4A4_PIGU |
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Fusion gene information | Fusion gene name: SLC4A4_PIGU | Fusion gene ID: 34564 | Hgene | Tgene | Gene symbol | SLC4A4 | PIGU | Gene ID | 8671 | 128869 |
Gene name | solute carrier family 4 member 4 | phosphatidylinositol glycan anchor biosynthesis class U | |
Synonyms | HNBC1|KNBC|NBC1|NBC2|NBCe1-A|SLC4A5|hhNMC|kNBC1|pNBC | CDC91L1|GAB1 | |
Cytomap | 4q13.3 | 20q11.22 | |
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 | phosphatidylinositol glycan anchor biosynthesis class U proteinCDC91 (cell division cycle 91, S. cerevisiae, homolog)-like 1GPI transamidase component PIG-UGPI transamidase subunitcell division cycle 91-like 1 proteincell division cycle protein 91-li | |
Modification date | 20180523 | 20180523 | |
UniProtAcc | Q9Y6R1 | Q9H490 | |
Ensembl transtripts involved in fusion gene | ENST00000264485, ENST00000425175, ENST00000351898, ENST00000340595, ENST00000514331, ENST00000512686, | ENST00000374820, ENST00000452740, ENST00000480175, | |
Fusion gene scores | * DoF score | 7 X 7 X 4=196 | 10 X 7 X 7=490 |
# samples | 9 | 12 | |
** MAII score | log2(9/196*10)=-1.12285674778553 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(12/490*10)=-2.02974734339405 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
Context | PubMed: SLC4A4 [Title/Abstract] AND PIGU [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) |
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Partner | Gene | GO ID | GO term | PubMed ID |
Hgene | SLC4A4 | GO:0006814 | sodium ion transport | 16769890 |
Tgene | PIGU | GO:0006506 | GPI anchor biosynthetic process | 15034568 |
Tgene | PIGU | GO:0046425 | regulation of JAK-STAT cascade | 15034568 |
![]() (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 | CK823810 | SLC4A4 | chr4 | 72437632 | - | PIGU | chr20 | 33185686 | - | ||
ChiTaRS3.1 | BM511213 | SLC4A4 | chr4 | 72437632 | - | PIGU | chr20 | 33185686 | - |
* 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 |
intron-intron | ENST00000264485 | ENST00000374820 | SLC4A4 | chr4 | 72437632 | - | PIGU | chr20 | 33185686 | - |
intron-intron | ENST00000264485 | ENST00000452740 | SLC4A4 | chr4 | 72437632 | - | PIGU | chr20 | 33185686 | - |
intron-intron | ENST00000264485 | ENST00000480175 | SLC4A4 | chr4 | 72437632 | - | PIGU | chr20 | 33185686 | - |
3UTR-intron | ENST00000425175 | ENST00000374820 | SLC4A4 | chr4 | 72437632 | - | PIGU | chr20 | 33185686 | - |
3UTR-intron | ENST00000425175 | ENST00000452740 | SLC4A4 | chr4 | 72437632 | - | PIGU | chr20 | 33185686 | - |
3UTR-intron | ENST00000425175 | ENST00000480175 | SLC4A4 | chr4 | 72437632 | - | PIGU | chr20 | 33185686 | - |
intron-intron | ENST00000351898 | ENST00000374820 | SLC4A4 | chr4 | 72437632 | - | PIGU | chr20 | 33185686 | - |
intron-intron | ENST00000351898 | ENST00000452740 | SLC4A4 | chr4 | 72437632 | - | PIGU | chr20 | 33185686 | - |
intron-intron | ENST00000351898 | ENST00000480175 | SLC4A4 | chr4 | 72437632 | - | PIGU | chr20 | 33185686 | - |
3UTR-intron | ENST00000340595 | ENST00000374820 | SLC4A4 | chr4 | 72437632 | - | PIGU | chr20 | 33185686 | - |
3UTR-intron | ENST00000340595 | ENST00000452740 | SLC4A4 | chr4 | 72437632 | - | PIGU | chr20 | 33185686 | - |
3UTR-intron | ENST00000340595 | ENST00000480175 | SLC4A4 | chr4 | 72437632 | - | PIGU | chr20 | 33185686 | - |
intron-intron | ENST00000514331 | ENST00000374820 | SLC4A4 | chr4 | 72437632 | - | PIGU | chr20 | 33185686 | - |
intron-intron | ENST00000514331 | ENST00000452740 | SLC4A4 | chr4 | 72437632 | - | PIGU | chr20 | 33185686 | - |
intron-intron | ENST00000514331 | ENST00000480175 | SLC4A4 | chr4 | 72437632 | - | PIGU | chr20 | 33185686 | - |
intron-intron | ENST00000512686 | ENST00000374820 | SLC4A4 | chr4 | 72437632 | - | PIGU | chr20 | 33185686 | - |
intron-intron | ENST00000512686 | ENST00000452740 | SLC4A4 | chr4 | 72437632 | - | PIGU | chr20 | 33185686 | - |
intron-intron | ENST00000512686 | ENST00000480175 | SLC4A4 | chr4 | 72437632 | - | PIGU | chr20 | 33185686 | - |
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FusionProtFeatures for SLC4A4_PIGU |
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Hgene | Tgene |
SLC4A4 | PIGU |
Component of the GPI transamidase complex. May beinvolved in the recognition of either the GPI attachment signal orthe lipid portion of GPI. {ECO:0000269|PubMed:12802054}. |
![]() * 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_PIGU |
![]() (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_PIGU |
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Hgene | Hgene's interactors | Tgene | Tgene's interactors |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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RelatedDrugs for SLC4A4_PIGU |
![]() (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_PIGU |
![]() (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 |