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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: 26986

FusionGeneSummary for PHKB_FAR1

check button Fusion gene summary
Fusion gene informationFusion gene name: PHKB_FAR1
Fusion gene ID: 26986
HgeneTgene
Gene symbol

PHKB

FAR1

Gene ID

5257

84188

Gene namephosphorylase kinase regulatory subunit betafatty acyl-CoA reductase 1
Synonyms-MLSTD2|PFCRD|SDR10E1
Cytomap

16q12.1

11p15.3

Type of geneprotein-codingprotein-coding
Descriptionphosphorylase b kinase regulatory subunit betaphosphorylase kinase beta-subunitphosphorylase kinase subunit betaphosphorylase kinase, betafatty acyl-CoA reductase 1male sterility domain-containing protein 2short chain dehydrogenase/reductase family 10E, member 1
Modification date2018052320180523
UniProtAcc

Q93100

Q8WVX9

Ensembl transtripts involved in fusion geneENST00000566044, ENST00000455779, 
ENST00000299167, ENST00000323584, 
ENST00000567402, 
ENST00000354817, 
ENST00000527202, ENST00000532502, 
Fusion gene scores* DoF score4 X 4 X 3=4828 X 8 X 12=2688
# samples 431
** MAII scorelog2(4/48*10)=-0.263034405833794
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(31/2688*10)=-3.11619301750452
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: PHKB [Title/Abstract] AND FAR1 [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
TgeneFAR1

GO:0008611

ether lipid biosynthetic process

24108123

TgeneFAR1

GO:0035336

long-chain fatty-acyl-CoA metabolic process

15220348

TgeneFAR1

GO:0046474

glycerophospholipid biosynthetic process

20071337


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
ChiTaRS3.1BE707585PHKBchr16

47733387

+FAR1chr11

13749157

+
* 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
3UTR-3CDSENST00000566044ENST00000354817PHKBchr16

47733387

+FAR1chr11

13749157

+
3UTR-intronENST00000566044ENST00000527202PHKBchr16

47733387

+FAR1chr11

13749157

+
3UTR-intronENST00000566044ENST00000532502PHKBchr16

47733387

+FAR1chr11

13749157

+
3UTR-3CDSENST00000455779ENST00000354817PHKBchr16

47733387

+FAR1chr11

13749157

+
3UTR-intronENST00000455779ENST00000527202PHKBchr16

47733387

+FAR1chr11

13749157

+
3UTR-intronENST00000455779ENST00000532502PHKBchr16

47733387

+FAR1chr11

13749157

+
3UTR-3CDSENST00000299167ENST00000354817PHKBchr16

47733387

+FAR1chr11

13749157

+
3UTR-intronENST00000299167ENST00000527202PHKBchr16

47733387

+FAR1chr11

13749157

+
3UTR-intronENST00000299167ENST00000532502PHKBchr16

47733387

+FAR1chr11

13749157

+
3UTR-3CDSENST00000323584ENST00000354817PHKBchr16

47733387

+FAR1chr11

13749157

+
3UTR-intronENST00000323584ENST00000527202PHKBchr16

47733387

+FAR1chr11

13749157

+
3UTR-intronENST00000323584ENST00000532502PHKBchr16

47733387

+FAR1chr11

13749157

+
intron-3CDSENST00000567402ENST00000354817PHKBchr16

47733387

+FAR1chr11

13749157

+
intron-intronENST00000567402ENST00000527202PHKBchr16

47733387

+FAR1chr11

13749157

+
intron-intronENST00000567402ENST00000532502PHKBchr16

47733387

+FAR1chr11

13749157

+

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FusionProtFeatures for PHKB_FAR1


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

Q93100

FAR1

Q8WVX9

Phosphorylase b kinase catalyzes the phosphorylation ofserine in certain substrates, including troponin I. The beta chainacts as a regulatory unit and modulates the activity of theholoenzyme in response to phosphorylation. Catalyzes the reduction of saturated and unsaturated C16or C18 fatty acyl-CoA to fatty alcohols (PubMed:15220348,PubMed:24108123). It plays an essential role in the production ofether lipids/plasmalogens which synthesis requires fatty alcohols(PubMed:20071337, PubMed:24108123). In parallel, it is alsorequired for wax monoesters production since fatty alcohols alsoconstitute a substrate for their synthesis (By similarity).{ECO:0000250|UniProtKB:Q922J9, ECO:0000269|PubMed:15220348,ECO:0000269|PubMed:20071337, ECO:0000269|PubMed:24108123}.

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 PHKB_FAR1


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 PHKB_FAR1


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 PHKB_FAR1


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 PHKB_FAR1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgenePHKBC0543514Glycogen Storage Disease IXB1CTD_human;ORPHANET;UNIPROT
TgeneFAR1C4015344PEROXISOMAL FATTY ACYL-CoA REDUCTASE 1 DISORDER1ORPHANET;UNIPROT