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Fusion gene ID: 31431 |
FusionGeneSummary for RNF13_CLDN16 |
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Fusion gene information | Fusion gene name: RNF13_CLDN16 | Fusion gene ID: 31431 | Hgene | Tgene | Gene symbol | RNF13 | CLDN16 | Gene ID | 11342 | 10686 |
Gene name | ring finger protein 13 | claudin 16 | |
Synonyms | RZF | HOMG3|PCLN1 | |
Cytomap | 3q25.1 | 3q28 | |
Type of gene | protein-coding | protein-coding | |
Description | E3 ubiquitin-protein ligase RNF13RING zinc finger proteinRING-type E3 ubiquitin transferase RNF13 | claudin-16PCLN-1hypomagnesemia 3, with hypercalciuria and nephrocalcinosisparacellin-1 | |
Modification date | 20180523 | 20180519 | |
UniProtAcc | O43567 | Q9Y5I7 | |
Ensembl transtripts involved in fusion gene | ENST00000392894, ENST00000344229, ENST00000361785, | ENST00000468220, ENST00000264734, ENST00000456423, | |
Fusion gene scores | * DoF score | 3 X 5 X 5=75 | 1 X 1 X 1=1 |
# samples | 6 | 1 | |
** MAII score | log2(6/75*10)=-0.321928094887362 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(1/1*10)=3.32192809488736 | |
Context | PubMed: RNF13 [Title/Abstract] AND CLDN16 [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 |
![]() (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 | BRCA | TCGA-A8-A09X-01A | RNF13 | chr3 | 149639014 | + | CLDN16 | chr3 | 190088682 | + |
* 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 |
5CDS-3UTR | ENST00000392894 | ENST00000468220 | RNF13 | chr3 | 149639014 | + | CLDN16 | chr3 | 190088682 | + |
5CDS-intron | ENST00000392894 | ENST00000264734 | RNF13 | chr3 | 149639014 | + | CLDN16 | chr3 | 190088682 | + |
5CDS-intron | ENST00000392894 | ENST00000456423 | RNF13 | chr3 | 149639014 | + | CLDN16 | chr3 | 190088682 | + |
5CDS-3UTR | ENST00000344229 | ENST00000468220 | RNF13 | chr3 | 149639014 | + | CLDN16 | chr3 | 190088682 | + |
5CDS-intron | ENST00000344229 | ENST00000264734 | RNF13 | chr3 | 149639014 | + | CLDN16 | chr3 | 190088682 | + |
5CDS-intron | ENST00000344229 | ENST00000456423 | RNF13 | chr3 | 149639014 | + | CLDN16 | chr3 | 190088682 | + |
5CDS-3UTR | ENST00000361785 | ENST00000468220 | RNF13 | chr3 | 149639014 | + | CLDN16 | chr3 | 190088682 | + |
5CDS-intron | ENST00000361785 | ENST00000264734 | RNF13 | chr3 | 149639014 | + | CLDN16 | chr3 | 190088682 | + |
5CDS-intron | ENST00000361785 | ENST00000456423 | RNF13 | chr3 | 149639014 | + | CLDN16 | chr3 | 190088682 | + |
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FusionProtFeatures for RNF13_CLDN16 |
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Hgene | Tgene |
RNF13 | CLDN16 |
E3 ubiquitin-protein ligase that may play a role incontrolling cell proliferation. {ECO:0000269|PubMed:18794910}. | Plays a major role in tight junction-specificobliteration of the intercellular space, through calcium-independent cell-adhesion activity. Involved in paracellularmagnesium reabsorption. Required for a selective paracellularconductance. May form, alone or in partnership with otherconstituents, an intercellular pore permitting paracellularpassage of magnesium and calcium ions down their electrochemicalgradients. Alternatively, it could be a sensor of magnesiumconcentration that could alter paracellular permeability mediatedby other factors. |
![]() * 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 RNF13_CLDN16 |
![]() (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 RNF13_CLDN16 |
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Hgene | Hgene's interactors | Tgene | Tgene's interactors |
RNF13 | UBE2D1, UBE2D2, UBE2D3, UBE2D4, UBE2E1, UBE2E3, UBE2N, LAMP2, CD63, PGRMC1, LMNB1, SNAPIN, ERN1, NXF1, VTI1B, STX12, LGALS8, LGALS9, AP3S2, AP3D1, HDGFRP3, AP3S1, TYK2, NR2F2, NR2F1, TSPAN3, CLCN7, CLEC11A, STAT5A, NES, MANSC1, RNF167, SPINT2, VIPR1, DCX, AP1S2 | CLDN16 | APP |
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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 RNF13_CLDN16 |
![]() (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 RNF13_CLDN16 |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Tgene | CLDN16 | C0268448 | Primary hypomagnesemia (disorder) | 3 | CTD_human;ORPHANET;UNIPROT |