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Fusion gene ID: 12395 |
FusionGeneSummary for F11_ANKH |
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Fusion gene information | Fusion gene name: F11_ANKH | Fusion gene ID: 12395 | Hgene | Tgene | Gene symbol | F11 | ANKH | Gene ID | 90338 | 56172 |
Gene name | zinc finger protein 160 | ANKH inorganic pyrophosphate transport regulator | |
Synonyms | F11|HKr18|HZF5|KR18 | ANK|CCAL2|CMDJ|CPPDD|HANK|MANK|SLC62A1 | |
Cytomap | 19q13.41-q13.42 | 5p15.2 | |
Type of gene | protein-coding | protein-coding | |
Description | zinc finger protein 160KRAB zinc finger protein KR18zinc finger protein 5zinc finger protein HZF5zinc finger protein Kr18 | progressive ankylosis protein homologankylosis, progressive homolog | |
Modification date | 20180523 | 20180519 | |
UniProtAcc | P03951 | Q9HCJ1 | |
Ensembl transtripts involved in fusion gene | ENST00000403665, ENST00000264692, ENST00000492972, | ENST00000284268, ENST00000535119, ENST00000503939, | |
Fusion gene scores | * DoF score | 1 X 1 X 1=1 | 9 X 7 X 5=315 |
# samples | 1 | 9 | |
** MAII score | log2(1/1*10)=3.32192809488736 | log2(9/315*10)=-1.8073549220576 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
Context | PubMed: F11 [Title/Abstract] AND ANKH [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 |
ChiTaRS3.1 | AW951415 | F11 | chr4 | 187208898 | + | ANKH | chr5 | 14711375 | - |
* 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 | ENST00000403665 | ENST00000284268 | F11 | chr4 | 187208898 | + | ANKH | chr5 | 14711375 | - |
Frame-shift | ENST00000403665 | ENST00000535119 | F11 | chr4 | 187208898 | + | ANKH | chr5 | 14711375 | - |
5CDS-intron | ENST00000403665 | ENST00000503939 | F11 | chr4 | 187208898 | + | ANKH | chr5 | 14711375 | - |
Frame-shift | ENST00000264692 | ENST00000284268 | F11 | chr4 | 187208898 | + | ANKH | chr5 | 14711375 | - |
Frame-shift | ENST00000264692 | ENST00000535119 | F11 | chr4 | 187208898 | + | ANKH | chr5 | 14711375 | - |
5CDS-intron | ENST00000264692 | ENST00000503939 | F11 | chr4 | 187208898 | + | ANKH | chr5 | 14711375 | - |
intron-3CDS | ENST00000492972 | ENST00000284268 | F11 | chr4 | 187208898 | + | ANKH | chr5 | 14711375 | - |
intron-3CDS | ENST00000492972 | ENST00000535119 | F11 | chr4 | 187208898 | + | ANKH | chr5 | 14711375 | - |
intron-intron | ENST00000492972 | ENST00000503939 | F11 | chr4 | 187208898 | + | ANKH | chr5 | 14711375 | - |
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FusionProtFeatures for F11_ANKH |
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Hgene | Tgene |
F11 | ANKH |
Factor XI triggers the middle phase of the intrinsicpathway of blood coagulation by activating factor IX. | Regulates intra- and extracellular levels of inorganicpyrophosphate (PPi), probably functioning as PPi transporter. |
![]() * 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 F11_ANKH |
![]() (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 F11_ANKH |
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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 F11_ANKH |
![]() (DrugBank Version 5.1.0 2018-04-02) |
Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
Hgene | F11 | P03951 | DB06404 | Human C1-esterase inhibitor | Coagulation factor XI | biotech | approved |
Hgene | F11 | P03951 | DB00100 | Coagulation Factor IX (Recombinant) | Coagulation factor XI | biotech | approved|investigational |
Hgene | F11 | P03951 | DB09228 | Conestat alfa | Coagulation factor XI | biotech | approved|investigational |
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RelatedDiseases for F11_ANKH |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Hgene | F11 | C0015523 | Factor XI Deficiency | 20 | CTD_human;HPO;ORPHANET;UNIPROT |
Hgene | F11 | C0020538 | Hypertensive disease | 1 | CTD_human |
Tgene | ANKH | C0856830 | Calcium pyrophosphate arthropathy | 3 | CTD_human;ORPHANET;UNIPROT |
Tgene | ANKH | C0014175 | Endometriosis | 1 | CTD_human |
Tgene | ANKH | C0040427 | Tooth Abnormalities | 1 | CTD_human |
Tgene | ANKH | C0376634 | Craniofacial Abnormalities | 1 | CTD_human |
Tgene | ANKH | C1852502 | CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT | 1 | CTD_human;UNIPROT |