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Fusion gene ID: 29246 |
FusionGeneSummary for PSPH_PHKG1 |
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Fusion gene information | Fusion gene name: PSPH_PHKG1 | Fusion gene ID: 29246 | Hgene | Tgene | Gene symbol | PSPH | PHKG1 | Gene ID | 5723 | 5260 |
Gene name | phosphoserine phosphatase | phosphorylase kinase catalytic subunit gamma 1 | |
Synonyms | PSP|PSPHD | PHKG | |
Cytomap | 7p11.2 | 7p11.2 | |
Type of gene | protein-coding | protein-coding | |
Description | phosphoserine phosphataseL-3-phosphoserine phosphataseO-phosphoserine phosphohydrolasePSPase | phosphorylase 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 date | 20180523 | 20180523 | |
UniProtAcc | P78330 | Q16816 | |
Ensembl transtripts involved in fusion gene | ENST00000275605, ENST00000395471, ENST00000459834, | ENST00000452681, ENST00000537360, ENST00000297373, ENST00000489604, | |
Fusion gene scores | * DoF score | 7 X 9 X 2=126 | 2 X 1 X 2=4 |
# samples | 11 | 2 | |
** MAII score | log2(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) |
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Partner | Gene | GO ID | GO term | PubMed ID |
Hgene | PSPH | GO:0006563 | L-serine metabolic process | 15291819 |
![]() (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 type | Source | Cancer type | Sample | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
TCGA | LD | BRCA | TCGA-EW-A1PB-01A | PSPH | chr7 | 56118831 | - | PHKG1 | chr7 | 56156668 | - |
* LD: Li Ding group's fusion gene list RV: Roel Verhaak group's fusion gene list ChiTaRs fusion database |
![]() * Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser. |
ORF | Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
5UTR-5UTR | ENST00000275605 | ENST00000452681 | PSPH | chr7 | 56118831 | - | PHKG1 | chr7 | 56156668 | - |
5UTR-5UTR | ENST00000275605 | ENST00000537360 | PSPH | chr7 | 56118831 | - | PHKG1 | chr7 | 56156668 | - |
5UTR-5UTR | ENST00000275605 | ENST00000297373 | PSPH | chr7 | 56118831 | - | PHKG1 | chr7 | 56156668 | - |
5UTR-5UTR | ENST00000275605 | ENST00000489604 | PSPH | chr7 | 56118831 | - | PHKG1 | chr7 | 56156668 | - |
5UTR-5UTR | ENST00000395471 | ENST00000452681 | PSPH | chr7 | 56118831 | - | PHKG1 | chr7 | 56156668 | - |
5UTR-5UTR | ENST00000395471 | ENST00000537360 | PSPH | chr7 | 56118831 | - | PHKG1 | chr7 | 56156668 | - |
5UTR-5UTR | ENST00000395471 | ENST00000297373 | PSPH | chr7 | 56118831 | - | PHKG1 | chr7 | 56156668 | - |
5UTR-5UTR | ENST00000395471 | ENST00000489604 | PSPH | chr7 | 56118831 | - | PHKG1 | chr7 | 56156668 | - |
intron-5UTR | ENST00000459834 | ENST00000452681 | PSPH | chr7 | 56118831 | - | PHKG1 | chr7 | 56156668 | - |
intron-5UTR | ENST00000459834 | ENST00000537360 | PSPH | chr7 | 56118831 | - | PHKG1 | chr7 | 56156668 | - |
intron-5UTR | ENST00000459834 | ENST00000297373 | PSPH | chr7 | 56118831 | - | PHKG1 | chr7 | 56156668 | - |
intron-5UTR | ENST00000459834 | ENST00000489604 | PSPH | chr7 | 56118831 | - | PHKG1 | chr7 | 56156668 | - |
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FusionProtFeatures for PSPH_PHKG1 |
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Hgene | Tgene |
PSPH | PHKG1 |
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}. |
![]() * 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. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
- In-frame and not-retained protein feature among the 13 regional features. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
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FusionGeneSequence for PSPH_PHKG1 |
![]() (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 |
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Hgene | Hgene's interactors | Tgene | Tgene's interactors |
PSPH | PRPSAP1, STYXL1, ASF1B, PSPH, ATXN1, FLAD1, OGT, PHGDH, SHC1, TIMM8B, TRIM25 | PHKG1 | UBE3A, PHKG2 |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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RelatedDrugs for PSPH_PHKG1 |
![]() (DrugBank Version 5.1.0 2018-04-02) |
Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
Hgene | PSPH | P78330 | DB01593 | Zinc | Phosphoserine phosphatase | small molecule | approved|investigational |
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RelatedDiseases for PSPH_PHKG1 |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Hgene | PSPH | C0002514 | Amino Acid Metabolism, Inborn Errors | 1 | CTD_human |
Hgene | PSPH | C1291463 | Deficiency of phosphoserine phosphatase | 1 | ORPHANET;UNIPROT |