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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: 27230

FusionGeneSummary for PIKFYVE_ZNF124

check button Fusion gene summary
Fusion gene informationFusion gene name: PIKFYVE_ZNF124
Fusion gene ID: 27230
HgeneTgene
Gene symbol

PIKFYVE

ZNF124

Gene ID

200576

7678

Gene namephosphoinositide kinase, FYVE-type zinc finger containingzinc finger protein 124
SynonymsCFD|FAB1|HEL37|PIP5K|PIP5K3|ZFYVE29HZF-16|HZF16|ZK7
Cytomap

2q34

1q44

Type of geneprotein-codingprotein-coding
Description1-phosphatidylinositol 3-phosphate 5-kinasePIPkin-IIIepididymis luminal protein 37phosphatidylinositol 3-phosphate 5-kinase type IIIphosphatidylinositol-3-phosphate/phosphatidylinositol 5-kinase, type IIIphosphoinositide kinase, FYVE finger containinzinc finger protein 124zinc finger protein HZF-16
Modification date2018052220180523
UniProtAcc

Q9Y2I7

Q15973

Ensembl transtripts involved in fusion geneENST00000264380, ENST00000392202, 
ENST00000308862, ENST00000407449, 
ENST00000474721, 		ENST00000472531, 
ENST00000491356, ENST00000340684, 
ENST00000543802, ENST00000491848, 
Fusion gene scores* DoF score6 X 5 X 4=1203 X 2 X 2=12
# samples 52
** MAII scorelog2(5/120*10)=-1.26303440583379
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(2/12*10)=0.736965594166206
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: PIKFYVE [Title/Abstract] AND ZNF124 [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
TCGARVLUSCTCGA-22-5474-01APIKFYVEchr2

209142432

+ZNF124chr1

247323115

-
* 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-shiftENST00000264380ENST00000472531PIKFYVEchr2

209142432

+ZNF124chr1

247323115

-
Frame-shiftENST00000264380ENST00000491356PIKFYVEchr2

209142432

+ZNF124chr1

247323115

-
Frame-shiftENST00000264380ENST00000340684PIKFYVEchr2

209142432

+ZNF124chr1

247323115

-
Frame-shiftENST00000264380ENST00000543802PIKFYVEchr2

209142432

+ZNF124chr1

247323115

-
5CDS-5UTRENST00000264380ENST00000491848PIKFYVEchr2

209142432

+ZNF124chr1

247323115

-
intron-3CDSENST00000392202ENST00000472531PIKFYVEchr2

209142432

+ZNF124chr1

247323115

-
intron-3CDSENST00000392202ENST00000491356PIKFYVEchr2

209142432

+ZNF124chr1

247323115

-
intron-3CDSENST00000392202ENST00000340684PIKFYVEchr2

209142432

+ZNF124chr1

247323115

-
intron-3CDSENST00000392202ENST00000543802PIKFYVEchr2

209142432

+ZNF124chr1

247323115

-
intron-5UTRENST00000392202ENST00000491848PIKFYVEchr2

209142432

+ZNF124chr1

247323115

-
intron-3CDSENST00000308862ENST00000472531PIKFYVEchr2

209142432

+ZNF124chr1

247323115

-
intron-3CDSENST00000308862ENST00000491356PIKFYVEchr2

209142432

+ZNF124chr1

247323115

-
intron-3CDSENST00000308862ENST00000340684PIKFYVEchr2

209142432

+ZNF124chr1

247323115

-
intron-3CDSENST00000308862ENST00000543802PIKFYVEchr2

209142432

+ZNF124chr1

247323115

-
intron-5UTRENST00000308862ENST00000491848PIKFYVEchr2

209142432

+ZNF124chr1

247323115

-
Frame-shiftENST00000407449ENST00000472531PIKFYVEchr2

209142432

+ZNF124chr1

247323115

-
Frame-shiftENST00000407449ENST00000491356PIKFYVEchr2

209142432

+ZNF124chr1

247323115

-
Frame-shiftENST00000407449ENST00000340684PIKFYVEchr2

209142432

+ZNF124chr1

247323115

-
Frame-shiftENST00000407449ENST00000543802PIKFYVEchr2

209142432

+ZNF124chr1

247323115

-
5CDS-5UTRENST00000407449ENST00000491848PIKFYVEchr2

209142432

+ZNF124chr1

247323115

-
intron-3CDSENST00000474721ENST00000472531PIKFYVEchr2

209142432

+ZNF124chr1

247323115

-
intron-3CDSENST00000474721ENST00000491356PIKFYVEchr2

209142432

+ZNF124chr1

247323115

-
intron-3CDSENST00000474721ENST00000340684PIKFYVEchr2

209142432

+ZNF124chr1

247323115

-
intron-3CDSENST00000474721ENST00000543802PIKFYVEchr2

209142432

+ZNF124chr1

247323115

-
intron-5UTRENST00000474721ENST00000491848PIKFYVEchr2

209142432

+ZNF124chr1

247323115

-

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FusionProtFeatures for PIKFYVE_ZNF124


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

Q9Y2I7

ZNF124

Q15973

The PI(3,5)P2 regulatory complex regulates both thesynthesis and turnover of phosphatidylinositol 3,5-bisphosphate(PtdIns(3,5)P2). Catalyzes the phosphorylation ofphosphatidylinositol 3-phosphate on the fifth hydroxyl of the myo-inositol ring, to form phosphatidylinositol 3,5-bisphosphate.Required for endocytic-vacuolar pathway and nuclear migration.Plays a role in the biogenesis of endosome carrier vesicles (ECV)/multivesicular bodies (MVB) transport intermediates from earlyendosomes. {ECO:0000269|PubMed:17556371}. May be involved in transcriptional regulation.

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 PIKFYVE_ZNF124


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 PIKFYVE_ZNF124


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
PIKFYVERABEPK, VAC14, BCL6, APP, WDR83, FIG4, NTRK1, PTAR1, LCAT, ANK1, TIMM23, CDK5, TRIM25ZNF124GOLGA2, KRTAP5-9, KRT31, MDFI, MEOX2, TCF4, TRAF1, CCNDBP1, TSGA10, KRTAP4-2, SYCE1, SSX2IP, FSD2, KRT40, KRTAP10-7, KRTAP10-9, KRTAP10-1, KRTAP10-8, KRTAP10-3, NOTCH2NL, TRIM25


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 PIKFYVE_ZNF124


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 PIKFYVE_ZNF124


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgenePIKFYVEC1562113Fleck corneal dystrophy1CTD_human;ORPHANET;UNIPROT