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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: 29246

FusionGeneSummary for PSPH_PHKG1

check button Fusion gene summary
Fusion gene informationFusion gene name: PSPH_PHKG1
Fusion gene ID: 29246
HgeneTgene
Gene symbol

PSPH

PHKG1

Gene ID

5723

5260

Gene namephosphoserine phosphatasephosphorylase kinase catalytic subunit gamma 1
SynonymsPSP|PSPHDPHKG
Cytomap

7p11.2

7p11.2

Type of geneprotein-codingprotein-coding
Descriptionphosphoserine phosphataseL-3-phosphoserine phosphataseO-phosphoserine phosphohydrolasePSPasephosphorylase b kinase gamma catalytic chain, skeletal muscle/heart isoformPHK-gamma-Mphosphorylase b kinase gamma catalytic chain, skeletal muscle isoformphosphorylase kinase gamma subunit 1phosphorylase kinase subunit gamma-1phosphorylase kinase, g
Modification date2018052320180523
UniProtAcc

P78330

Q16816

Ensembl transtripts involved in fusion geneENST00000275605, ENST00000395471, 
ENST00000459834, 
ENST00000452681, 
ENST00000537360, ENST00000297373, 
ENST00000489604, 
Fusion gene scores* DoF score7 X 9 X 2=1262 X 1 X 2=4
# samples 112
** MAII scorelog2(11/126*10)=-0.195920209975257
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(2/4*10)=2.32192809488736
Context

PubMed: PSPH [Title/Abstract] AND PHKG1 [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
HgenePSPH

GO:0006563

L-serine metabolic process

15291819


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
TCGALDBRCATCGA-EW-A1PB-01APSPHchr7

56118831

-PHKG1chr7

56156668

-
* 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
5UTR-5UTRENST00000275605ENST00000452681PSPHchr7

56118831

-PHKG1chr7

56156668

-
5UTR-5UTRENST00000275605ENST00000537360PSPHchr7

56118831

-PHKG1chr7

56156668

-
5UTR-5UTRENST00000275605ENST00000297373PSPHchr7

56118831

-PHKG1chr7

56156668

-
5UTR-5UTRENST00000275605ENST00000489604PSPHchr7

56118831

-PHKG1chr7

56156668

-
5UTR-5UTRENST00000395471ENST00000452681PSPHchr7

56118831

-PHKG1chr7

56156668

-
5UTR-5UTRENST00000395471ENST00000537360PSPHchr7

56118831

-PHKG1chr7

56156668

-
5UTR-5UTRENST00000395471ENST00000297373PSPHchr7

56118831

-PHKG1chr7

56156668

-
5UTR-5UTRENST00000395471ENST00000489604PSPHchr7

56118831

-PHKG1chr7

56156668

-
intron-5UTRENST00000459834ENST00000452681PSPHchr7

56118831

-PHKG1chr7

56156668

-
intron-5UTRENST00000459834ENST00000537360PSPHchr7

56118831

-PHKG1chr7

56156668

-
intron-5UTRENST00000459834ENST00000297373PSPHchr7

56118831

-PHKG1chr7

56156668

-
intron-5UTRENST00000459834ENST00000489604PSPHchr7

56118831

-PHKG1chr7

56156668

-

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FusionProtFeatures for PSPH_PHKG1


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

P78330

PHKG1

Q16816

Catalyzes the last step in the biosynthesis of serinefrom carbohydrates. The reaction mechanism proceeds via theformation of a phosphoryl-enzyme intermediates.{ECO:0000269|PubMed:12777757}. Catalytic subunit of the phosphorylase b kinase (PHK),which mediates the neural and hormonal regulation of glycogenbreakdown (glycogenolysis) by phosphorylating and therebyactivating glycogen phosphorylase. In vitro, phosphorylates PYGM,TNNI3, MAPT/TAU, GAP43 and NRGN/RC3 (By similarity).{ECO:0000250}.

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 PSPH_PHKG1


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 PSPH_PHKG1


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
PSPHPRPSAP1, STYXL1, ASF1B, PSPH, ATXN1, FLAD1, OGT, PHGDH, SHC1, TIMM8B, TRIM25PHKG1UBE3A, PHKG2


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 PSPH_PHKG1


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
HgenePSPHP78330DB01593ZincPhosphoserine phosphatasesmall moleculeapproved|investigational

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RelatedDiseases for PSPH_PHKG1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgenePSPHC0002514Amino Acid Metabolism, Inborn Errors1CTD_human
HgenePSPHC1291463Deficiency of phosphoserine phosphatase1ORPHANET;UNIPROT