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Center for Computational Systems Medicine
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FusionGeneSummary

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FusionProtFeature

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FusionGeneSequence

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FusionGenePPI

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RelatedDrugs

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RelatedDiseases

Fusion gene ID: 12395

FusionGeneSummary for F11_ANKH

check button Fusion gene summary
Fusion gene informationFusion gene name: F11_ANKH
Fusion gene ID: 12395
HgeneTgene
Gene symbol

F11

ANKH

Gene ID

90338

56172

Gene namezinc finger protein 160ANKH inorganic pyrophosphate transport regulator
SynonymsF11|HKr18|HZF5|KR18ANK|CCAL2|CMDJ|CPPDD|HANK|MANK|SLC62A1
Cytomap

19q13.41-q13.42

5p15.2

Type of geneprotein-codingprotein-coding
Descriptionzinc finger protein 160KRAB zinc finger protein KR18zinc finger protein 5zinc finger protein HZF5zinc finger protein Kr18progressive ankylosis protein homologankylosis, progressive homolog
Modification date2018052320180519
UniProtAcc

P03951

Q9HCJ1

Ensembl transtripts involved in fusion geneENST00000403665, ENST00000264692, 
ENST00000492972, 
ENST00000284268, 
ENST00000535119, ENST00000503939, 
Fusion gene scores* DoF score1 X 1 X 1=19 X 7 X 5=315
# samples 19
** MAII scorelog2(1/1*10)=3.32192809488736log2(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)

check button Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez
PartnerGeneGO IDGO termPubMed ID

check button Fusion gene information from three resources
(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 typeSourceCancer typeSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
ChiTaRS3.1AW951415F11chr4

187208898

+ANKHchr5

14711375

-
* LD: Li Ding group's fusion gene list
  RV: Roel Verhaak group's fusion gene list
  ChiTaRs fusion database

check button Open reading frame (ORF) analsis of fusion genes based on Ensembl gene isoform structure.
* Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser.
ORFHenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrand
Frame-shiftENST00000403665ENST00000284268F11chr4

187208898

+ANKHchr5

14711375

-
Frame-shiftENST00000403665ENST00000535119F11chr4

187208898

+ANKHchr5

14711375

-
5CDS-intronENST00000403665ENST00000503939F11chr4

187208898

+ANKHchr5

14711375

-
Frame-shiftENST00000264692ENST00000284268F11chr4

187208898

+ANKHchr5

14711375

-
Frame-shiftENST00000264692ENST00000535119F11chr4

187208898

+ANKHchr5

14711375

-
5CDS-intronENST00000264692ENST00000503939F11chr4

187208898

+ANKHchr5

14711375

-
intron-3CDSENST00000492972ENST00000284268F11chr4

187208898

+ANKHchr5

14711375

-
intron-3CDSENST00000492972ENST00000535119F11chr4

187208898

+ANKHchr5

14711375

-
intron-intronENST00000492972ENST00000503939F11chr4

187208898

+ANKHchr5

14711375

-

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FusionProtFeatures for F11_ANKH


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
F11

P03951

ANKH

Q9HCJ1

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.

check buttonRetention analysis result of each fusion partner protein across 39 protein features of UniProt such as six molecule processing features, 13 region features, four site features, six amino acid modification features, two natural variation features, five experimental info features, and 3 secondary structure features. Here, because of limited space for viewing, we only show the protein feature retention information belong to the 13 regional features. All retention annotation result can be downloaded at

download page

.

* 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.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note


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FusionGeneSequence for F11_ANKH


check button For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences.
(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


check button Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in

ChiPPI page

.

check button Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160)
HgeneHgene's interactorsTgeneTgene's interactors


check button - Retained PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenStill interaction with


check button - Lost PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


check button - Retained PPIs, but lost function due to frame-shift fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


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RelatedDrugs for F11_ANKH


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
HgeneF11P03951DB06404Human C1-esterase inhibitorCoagulation factor XIbiotechapproved
HgeneF11P03951DB00100Coagulation Factor IX (Recombinant)Coagulation factor XIbiotechapproved|investigational
HgeneF11P03951DB09228Conestat alfaCoagulation factor XIbiotechapproved|investigational

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RelatedDiseases for F11_ANKH


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneF11C0015523Factor XI Deficiency20CTD_human;HPO;ORPHANET;UNIPROT
HgeneF11C0020538Hypertensive disease1CTD_human
TgeneANKHC0856830Calcium pyrophosphate arthropathy3CTD_human;ORPHANET;UNIPROT
TgeneANKHC0014175Endometriosis1CTD_human
TgeneANKHC0040427Tooth Abnormalities1CTD_human
TgeneANKHC0376634Craniofacial Abnormalities1CTD_human
TgeneANKHC1852502CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT1CTD_human;UNIPROT