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![]() | Fusion Gene Summary |
![]() | Fusion Gene ORF analysis |
![]() | Fusion Genomic Features |
![]() | Fusion Protein Features |
![]() | Fusion Gene Sequence |
![]() | Fusion Gene PPI analysis |
![]() | Related Drugs |
![]() | Related Diseases |
Fusion gene:KL-KL (FusionGDB2 ID:HG9365TG9365) |
Fusion Gene Summary for KL-KL |
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Fusion gene information | Fusion gene name: KL-KL | Fusion gene ID: hg9365tg9365 | Hgene | Tgene | Gene symbol | KL | KL | Gene ID | 9365 | 9365 |
Gene name | klotho | klotho | |
Synonyms | HFTC3 | HFTC3 | |
Cytomap | ('KL')('KL') 13q13.1 | 13q13.1 | |
Type of gene | protein-coding | protein-coding | |
Description | klotho | klotho | |
Modification date | 20200329 | 20200329 | |
UniProtAcc | Q9UEF7 | Q9UEF7 | |
Ensembl transtripts involved in fusion gene | ENST00000380099, ENST00000426690, ENST00000487852, | ENST00000380099, ENST00000426690, ENST00000487852, | |
Fusion gene scores | * DoF score | 2 X 2 X 1=4 | 4 X 4 X 2=32 |
# samples | 2 | 4 | |
** MAII score | log2(2/4*10)=2.32192809488736 | log2(4/32*10)=0.321928094887362 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | |
Context | PubMed: KL [Title/Abstract] AND KL [Title/Abstract] AND fusion [Title/Abstract] | ||
Most frequent breakpoint | KL(33640246)-KL(33640021), # samples:1 | ||
Anticipated loss of major functional domain due to fusion event. |
* 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 |
![]() * 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. |
Source | Disease | Sample | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
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Fusion Gene ORF analysis for KL-KL |
![]() * 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 |
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Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | Seq length (transcript) | BP loci (transcript) | Predicted start (transcript) | Predicted stop (transcript) | Seq length (amino acids) |
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Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | No-coding score | Coding score |
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Fusion Genomic Features for KL-KL |
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Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | 1-p | p (fusion gene breakpoint) |
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Fusion Protein Features for KL-KL |
![]() Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/:33640246/:33640021) - FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels. - How to search 1. Put your fusion gene symbol. 2. Press the tab key until there will be shown the breakpoint information filled. 4. Go down and press 'Search' tab twice. 4. Go down to have the hyperlink of the search result. 5. Click the hyperlink. 6. See the FGviewer result for your fusion gene. |
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Hgene | Tgene |
KL | KL |
FUNCTION: May have weak glycosidase activity towards glucuronylated steroids. However, it lacks essential active site Glu residues at positions 239 and 872, suggesting it may be inactive as a glycosidase in vivo. May be involved in the regulation of calcium and phosphorus homeostasis by inhibiting the synthesis of active vitamin D (By similarity). Essential factor for the specific interaction between FGF23 and FGFR1 (By similarity). {ECO:0000250}.; FUNCTION: The Klotho peptide generated by cleavage of the membrane-bound isoform may be an anti-aging circulating hormone which would extend life span by inhibiting insulin/IGF1 signaling. {ECO:0000250}. | FUNCTION: May have weak glycosidase activity towards glucuronylated steroids. However, it lacks essential active site Glu residues at positions 239 and 872, suggesting it may be inactive as a glycosidase in vivo. May be involved in the regulation of calcium and phosphorus homeostasis by inhibiting the synthesis of active vitamin D (By similarity). Essential factor for the specific interaction between FGF23 and FGFR1 (By similarity). {ECO:0000250}.; FUNCTION: The Klotho peptide generated by cleavage of the membrane-bound isoform may be an anti-aging circulating hormone which would extend life span by inhibiting insulin/IGF1 signaling. {ECO:0000250}. |
![]() * 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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Fusion Gene Sequence for KL-KL |
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Fusion Gene PPI Analysis for KL-KL |
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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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Related Drugs for KL-KL |
![]() (DrugBank Version 5.1.8 2021-05-08) |
Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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Related Diseases for KL-KL |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Hgene | KL | C0025261 | Memory Disorders | 2 | CTD_human |
Hgene | KL | C0231341 | Premature aging syndrome | 2 | CTD_human |
Hgene | KL | C0233794 | Memory impairment | 2 | CTD_human |
Hgene | KL | C0751292 | Age-Related Memory Disorders | 2 | CTD_human |
Hgene | KL | C0751293 | Memory Disorder, Semantic | 2 | CTD_human |
Hgene | KL | C0751294 | Memory Disorder, Spatial | 2 | CTD_human |
Hgene | KL | C0751295 | Memory Loss | 2 | CTD_human |
Hgene | KL | C1876187 | TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL | 2 | ORPHANET |
Hgene | KL | C4692564 | TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, 1 | 2 | ORPHANET |
Hgene | KL | C0001787 | Osteoporosis, Age-Related | 1 | CTD_human |
Hgene | KL | C0003850 | Arteriosclerosis | 1 | CTD_human |
Hgene | KL | C0006663 | Calcinosis | 1 | CTD_human |
Hgene | KL | C0010054 | Coronary Arteriosclerosis | 1 | CTD_human |
Hgene | KL | C0011860 | Diabetes Mellitus, Non-Insulin-Dependent | 1 | CTD_human |
Hgene | KL | C0013990 | Pathological accumulation of air in tissues | 1 | CTD_human |
Hgene | KL | C0020437 | Hypercalcemia | 1 | CTD_human |
Hgene | KL | C0021359 | Infertility | 1 | CTD_human |
Hgene | KL | C0022658 | Kidney Diseases | 1 | CTD_human |
Hgene | KL | C0023186 | Learning Disorders | 1 | CTD_human |
Hgene | KL | C0026141 | Milk-Alkali Syndrome | 1 | CTD_human |
Hgene | KL | C0029456 | Osteoporosis | 1 | CTD_human |
Hgene | KL | C0029459 | Osteoporosis, Senile | 1 | CTD_human |
Hgene | KL | C0037274 | Dermatologic disorders | 1 | CTD_human |
Hgene | KL | C0085681 | Hyperphosphatemia (disorder) | 1 | CTD_human |
Hgene | KL | C0263628 | Tumoral calcinosis | 1 | CTD_human |
Hgene | KL | C0268080 | Hypercalcemia, Idiopathic, of Infancy | 1 | CTD_human |
Hgene | KL | C0521174 | Microcalcification | 1 | CTD_human |
Hgene | KL | C0729353 | Subfertility | 1 | CTD_human |
Hgene | KL | C0751262 | Adult Learning Disorders | 1 | CTD_human |
Hgene | KL | C0751263 | Learning Disturbance | 1 | CTD_human |
Hgene | KL | C0751265 | Learning Disabilities | 1 | CTD_human |
Hgene | KL | C0751406 | Post-Traumatic Osteoporosis | 1 | CTD_human |
Hgene | KL | C1330966 | Developmental Academic Disorder | 1 | CTD_human |
Hgene | KL | C1956346 | Coronary Artery Disease | 1 | CTD_human |
Hgene | KL | C2931105 | Hypercalciuria, childhood idiopathic | 1 | CTD_human |
Hgene | KL | C4074771 | Sterility, Reproductive | 1 | CTD_human |
Hgene | KL | C4693864 | TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, 3 | 1 | GENOMICS_ENGLAND;UNIPROT |
Tgene | C0025261 | Memory Disorders | 2 | CTD_human | |
Tgene | C0231341 | Premature aging syndrome | 2 | CTD_human | |
Tgene | C0233794 | Memory impairment | 2 | CTD_human | |
Tgene | C0751292 | Age-Related Memory Disorders | 2 | CTD_human | |
Tgene | C0751293 | Memory Disorder, Semantic | 2 | CTD_human | |
Tgene | C0751294 | Memory Disorder, Spatial | 2 | CTD_human | |
Tgene | C0751295 | Memory Loss | 2 | CTD_human | |
Tgene | C1876187 | TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL | 2 | ORPHANET | |
Tgene | C4692564 | TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, 1 | 2 | ORPHANET | |
Tgene | C0001787 | Osteoporosis, Age-Related | 1 | CTD_human | |
Tgene | C0003850 | Arteriosclerosis | 1 | CTD_human | |
Tgene | C0006663 | Calcinosis | 1 | CTD_human | |
Tgene | C0010054 | Coronary Arteriosclerosis | 1 | CTD_human | |
Tgene | C0011860 | Diabetes Mellitus, Non-Insulin-Dependent | 1 | CTD_human | |
Tgene | C0013990 | Pathological accumulation of air in tissues | 1 | CTD_human | |
Tgene | C0020437 | Hypercalcemia | 1 | CTD_human | |
Tgene | C0021359 | Infertility | 1 | CTD_human | |
Tgene | C0022658 | Kidney Diseases | 1 | CTD_human | |
Tgene | C0023186 | Learning Disorders | 1 | CTD_human | |
Tgene | C0026141 | Milk-Alkali Syndrome | 1 | CTD_human | |
Tgene | C0029456 | Osteoporosis | 1 | CTD_human | |
Tgene | C0029459 | Osteoporosis, Senile | 1 | CTD_human | |
Tgene | C0037274 | Dermatologic disorders | 1 | CTD_human | |
Tgene | C0085681 | Hyperphosphatemia (disorder) | 1 | CTD_human | |
Tgene | C0263628 | Tumoral calcinosis | 1 | CTD_human | |
Tgene | C0268080 | Hypercalcemia, Idiopathic, of Infancy | 1 | CTD_human | |
Tgene | C0521174 | Microcalcification | 1 | CTD_human | |
Tgene | C0729353 | Subfertility | 1 | CTD_human | |
Tgene | C0751262 | Adult Learning Disorders | 1 | CTD_human | |
Tgene | C0751263 | Learning Disturbance | 1 | CTD_human | |
Tgene | C0751265 | Learning Disabilities | 1 | CTD_human | |
Tgene | C0751406 | Post-Traumatic Osteoporosis | 1 | CTD_human | |
Tgene | C1330966 | Developmental Academic Disorder | 1 | CTD_human | |
Tgene | C1956346 | Coronary Artery Disease | 1 | CTD_human | |
Tgene | C2931105 | Hypercalciuria, childhood idiopathic | 1 | CTD_human | |
Tgene | C4074771 | Sterility, Reproductive | 1 | CTD_human | |
Tgene | C4693864 | TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, 3 | 1 | GENOMICS_ENGLAND;UNIPROT |