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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: 1700

FusionGeneSummary for ANKFY1_ANKFY1

check button Fusion gene summary
Fusion gene informationFusion gene name: ANKFY1_ANKFY1
Fusion gene ID: 1700
HgeneTgene
Gene symbol

ANKFY1

ANKFY1

Gene ID

51479

51479

Gene nameankyrin repeat and FYVE domain containing 1ankyrin repeat and FYVE domain containing 1
SynonymsANKHZN|BTBD23|ZFYVE14ANKHZN|BTBD23|ZFYVE14
Cytomap

17p13.2

17p13.2

Type of geneprotein-codingprotein-coding
Descriptionrabankyrin-5Rabankyrin-5ankyrin repeat and FYVE domain-containing protein 1ankyrin repeat hooked to zinc finger motifankyrin repeats hooked to a zinc finger motifrank-5rabankyrin-5Rabankyrin-5ankyrin repeat and FYVE domain-containing protein 1ankyrin repeat hooked to zinc finger motifankyrin repeats hooked to a zinc finger motifrank-5
Modification date2018051920180519
UniProtAcc

Q9P2R3

Q9P2R3

Ensembl transtripts involved in fusion geneENST00000341657, ENST00000570535, 
ENST00000574367, ENST00000573722, 
ENST00000433651, 		ENST00000341657, 
ENST00000570535, ENST00000574367, 
ENST00000573722, ENST00000433651, 
Fusion gene scores* DoF score4 X 4 X 3=484 X 4 X 3=48
# samples 44
** MAII scorelog2(4/48*10)=-0.263034405833794
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(4/48*10)=-0.263034405833794
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: ANKFY1 [Title/Abstract] AND ANKFY1 [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
HgeneANKFY1

GO:0034058

endosomal vesicle fusion

15328530

HgeneANKFY1

GO:0048549

positive regulation of pinocytosis

15328530

TgeneANKFY1

GO:0034058

endosomal vesicle fusion

15328530

TgeneANKFY1

GO:0048549

positive regulation of pinocytosis

15328530


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
ChiTaRS3.1BE144976ANKFY1chr17

4145124

+ANKFY1chr17

4143652

+
* 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
intron-intronENST00000341657ENST00000341657ANKFY1chr17

4145124

+ANKFY1chr17

4143652

+
intron-intronENST00000341657ENST00000570535ANKFY1chr17

4145124

+ANKFY1chr17

4143652

+
intron-intronENST00000341657ENST00000574367ANKFY1chr17

4145124

+ANKFY1chr17

4143652

+
intron-intronENST00000341657ENST00000573722ANKFY1chr17

4145124

+ANKFY1chr17

4143652

+
intron-intronENST00000341657ENST00000433651ANKFY1chr17

4145124

+ANKFY1chr17

4143652

+
intron-intronENST00000570535ENST00000341657ANKFY1chr17

4145124

+ANKFY1chr17

4143652

+
intron-intronENST00000570535ENST00000570535ANKFY1chr17

4145124

+ANKFY1chr17

4143652

+
intron-intronENST00000570535ENST00000574367ANKFY1chr17

4145124

+ANKFY1chr17

4143652

+
intron-intronENST00000570535ENST00000573722ANKFY1chr17

4145124

+ANKFY1chr17

4143652

+
intron-intronENST00000570535ENST00000433651ANKFY1chr17

4145124

+ANKFY1chr17

4143652

+
intron-intronENST00000574367ENST00000341657ANKFY1chr17

4145124

+ANKFY1chr17

4143652

+
intron-intronENST00000574367ENST00000570535ANKFY1chr17

4145124

+ANKFY1chr17

4143652

+
intron-intronENST00000574367ENST00000574367ANKFY1chr17

4145124

+ANKFY1chr17

4143652

+
intron-intronENST00000574367ENST00000573722ANKFY1chr17

4145124

+ANKFY1chr17

4143652

+
intron-intronENST00000574367ENST00000433651ANKFY1chr17

4145124

+ANKFY1chr17

4143652

+
intron-intronENST00000573722ENST00000341657ANKFY1chr17

4145124

+ANKFY1chr17

4143652

+
intron-intronENST00000573722ENST00000570535ANKFY1chr17

4145124

+ANKFY1chr17

4143652

+
intron-intronENST00000573722ENST00000574367ANKFY1chr17

4145124

+ANKFY1chr17

4143652

+
intron-intronENST00000573722ENST00000573722ANKFY1chr17

4145124

+ANKFY1chr17

4143652

+
intron-intronENST00000573722ENST00000433651ANKFY1chr17

4145124

+ANKFY1chr17

4143652

+
intron-intronENST00000433651ENST00000341657ANKFY1chr17

4145124

+ANKFY1chr17

4143652

+
intron-intronENST00000433651ENST00000570535ANKFY1chr17

4145124

+ANKFY1chr17

4143652

+
intron-intronENST00000433651ENST00000574367ANKFY1chr17

4145124

+ANKFY1chr17

4143652

+
intron-intronENST00000433651ENST00000573722ANKFY1chr17

4145124

+ANKFY1chr17

4143652

+
intron-intronENST00000433651ENST00000433651ANKFY1chr17

4145124

+ANKFY1chr17

4143652

+

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FusionProtFeatures for ANKFY1_ANKFY1


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
ANKFY1

Q9P2R3

ANKFY1

Q9P2R3

Proposed effector of Rab5. Binds to phosphatidylinositol3-phosphate (PI(3)P). Involved in homotypic early endosome fusionand to a lesser extent in heterotypic fusion of chlathrin-coatedvesicles with early endosomes. Involved in macropinocytosis; thefunction is dependent on Rab5-GTP. Required for correct endosomallocalization. Involved in the internalization and trafficking ofactivated tyrosine kinase receptors such as PDGFRB. Regulates thesubcellular localization of the retromer complex in a EHD1-dependent manner. Involved in endosome-to-Golgi transport andbiosynthetic transport to late endosomes and lysosomes indicativefor a regulation of retromer complex-mediated retrogradetransport. {ECO:0000269|PubMed:15328530,ECO:0000269|PubMed:22284051, ECO:0000269|PubMed:24102721}. Proposed effector of Rab5. Binds to phosphatidylinositol3-phosphate (PI(3)P). Involved in homotypic early endosome fusionand to a lesser extent in heterotypic fusion of chlathrin-coatedvesicles with early endosomes. Involved in macropinocytosis; thefunction is dependent on Rab5-GTP. Required for correct endosomallocalization. Involved in the internalization and trafficking ofactivated tyrosine kinase receptors such as PDGFRB. Regulates thesubcellular localization of the retromer complex in a EHD1-dependent manner. Involved in endosome-to-Golgi transport andbiosynthetic transport to late endosomes and lysosomes indicativefor a regulation of retromer complex-mediated retrogradetransport. {ECO:0000269|PubMed:15328530,ECO:0000269|PubMed:22284051, ECO:0000269|PubMed:24102721}.

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 ANKFY1_ANKFY1


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 ANKFY1_ANKFY1


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 ANKFY1_ANKFY1


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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RelatedDiseases for ANKFY1_ANKFY1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneANKFY1C0005695Bladder Neoplasm1CTD_human
TgeneANKFY1C0005695Bladder Neoplasm1CTD_human