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Fusion gene ID: 27516 |
FusionGeneSummary for PLCH1_SERPINA5 |
Fusion gene summary |
Fusion gene information | Fusion gene name: PLCH1_SERPINA5 | Fusion gene ID: 27516 | Hgene | Tgene | Gene symbol | PLCH1 | SERPINA5 | Gene ID | 23007 | 5104 |
Gene name | phospholipase C eta 1 | serpin family A member 5 | |
Synonyms | PLCL3 | PAI-3|PAI3|PCI|PCI-B|PLANH3|PROCI | |
Cytomap | 3q25.31 | 14q32.13 | |
Type of gene | protein-coding | protein-coding | |
Description | 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase eta-1PLC eta 1PLC-L3phosphoinositide phospholipase C-eta-1phospholipase C-eta1aphospholipase C-eta1bphospholipase C-like 3phospholipase C-like protein 3 | plasma serine protease inhibitoracrosomal serine protease inhibitorplasminogen activator inhibitor IIIplasminogen activator inhibitor-3protein C inhibitorserine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member | |
Modification date | 20180519 | 20180523 | |
UniProtAcc | Q4KWH8 | P05154 | |
Ensembl transtripts involved in fusion gene | ENST00000494598, ENST00000460012, ENST00000447496, ENST00000340059, ENST00000414191, ENST00000334686, | ENST00000553780, ENST00000554866, ENST00000329597, ENST00000554276, | |
Fusion gene scores | * DoF score | 4 X 4 X 4=64 | 4 X 4 X 1=16 |
# samples | 4 | 4 | |
** MAII score | log2(4/64*10)=-0.678071905112638 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(4/16*10)=1.32192809488736 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | |
Context | PubMed: PLCH1 [Title/Abstract] AND SERPINA5 [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) |
Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
Partner | Gene | GO ID | GO term | PubMed ID |
Hgene | PLCH1 | GO:0048015 | phosphatidylinositol-mediated signaling | 15702972 |
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 type | Source | Cancer type | Sample | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
ChiTaRS3.1 | DB035358 | PLCH1 | chr3 | 155393829 | - | SERPINA5 | chr14 | 95047806 | + |
* LD: Li Ding group's fusion gene list RV: Roel Verhaak group's fusion gene list ChiTaRs fusion database |
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. |
ORF | Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
intron-intron | ENST00000494598 | ENST00000553780 | PLCH1 | chr3 | 155393829 | - | SERPINA5 | chr14 | 95047806 | + |
intron-5UTR | ENST00000494598 | ENST00000554866 | PLCH1 | chr3 | 155393829 | - | SERPINA5 | chr14 | 95047806 | + |
intron-5UTR | ENST00000494598 | ENST00000329597 | PLCH1 | chr3 | 155393829 | - | SERPINA5 | chr14 | 95047806 | + |
intron-intron | ENST00000494598 | ENST00000554276 | PLCH1 | chr3 | 155393829 | - | SERPINA5 | chr14 | 95047806 | + |
intron-intron | ENST00000460012 | ENST00000553780 | PLCH1 | chr3 | 155393829 | - | SERPINA5 | chr14 | 95047806 | + |
intron-5UTR | ENST00000460012 | ENST00000554866 | PLCH1 | chr3 | 155393829 | - | SERPINA5 | chr14 | 95047806 | + |
intron-5UTR | ENST00000460012 | ENST00000329597 | PLCH1 | chr3 | 155393829 | - | SERPINA5 | chr14 | 95047806 | + |
intron-intron | ENST00000460012 | ENST00000554276 | PLCH1 | chr3 | 155393829 | - | SERPINA5 | chr14 | 95047806 | + |
intron-intron | ENST00000447496 | ENST00000553780 | PLCH1 | chr3 | 155393829 | - | SERPINA5 | chr14 | 95047806 | + |
intron-5UTR | ENST00000447496 | ENST00000554866 | PLCH1 | chr3 | 155393829 | - | SERPINA5 | chr14 | 95047806 | + |
intron-5UTR | ENST00000447496 | ENST00000329597 | PLCH1 | chr3 | 155393829 | - | SERPINA5 | chr14 | 95047806 | + |
intron-intron | ENST00000447496 | ENST00000554276 | PLCH1 | chr3 | 155393829 | - | SERPINA5 | chr14 | 95047806 | + |
intron-intron | ENST00000340059 | ENST00000553780 | PLCH1 | chr3 | 155393829 | - | SERPINA5 | chr14 | 95047806 | + |
intron-5UTR | ENST00000340059 | ENST00000554866 | PLCH1 | chr3 | 155393829 | - | SERPINA5 | chr14 | 95047806 | + |
intron-5UTR | ENST00000340059 | ENST00000329597 | PLCH1 | chr3 | 155393829 | - | SERPINA5 | chr14 | 95047806 | + |
intron-intron | ENST00000340059 | ENST00000554276 | PLCH1 | chr3 | 155393829 | - | SERPINA5 | chr14 | 95047806 | + |
intron-intron | ENST00000414191 | ENST00000553780 | PLCH1 | chr3 | 155393829 | - | SERPINA5 | chr14 | 95047806 | + |
intron-5UTR | ENST00000414191 | ENST00000554866 | PLCH1 | chr3 | 155393829 | - | SERPINA5 | chr14 | 95047806 | + |
intron-5UTR | ENST00000414191 | ENST00000329597 | PLCH1 | chr3 | 155393829 | - | SERPINA5 | chr14 | 95047806 | + |
intron-intron | ENST00000414191 | ENST00000554276 | PLCH1 | chr3 | 155393829 | - | SERPINA5 | chr14 | 95047806 | + |
intron-intron | ENST00000334686 | ENST00000553780 | PLCH1 | chr3 | 155393829 | - | SERPINA5 | chr14 | 95047806 | + |
intron-5UTR | ENST00000334686 | ENST00000554866 | PLCH1 | chr3 | 155393829 | - | SERPINA5 | chr14 | 95047806 | + |
intron-5UTR | ENST00000334686 | ENST00000329597 | PLCH1 | chr3 | 155393829 | - | SERPINA5 | chr14 | 95047806 | + |
intron-intron | ENST00000334686 | ENST00000554276 | PLCH1 | chr3 | 155393829 | - | SERPINA5 | chr14 | 95047806 | + |
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FusionProtFeatures for PLCH1_SERPINA5 |
Main function of each fusion partner protein. (from UniProt) |
Hgene | Tgene |
PLCH1 | SERPINA5 |
The production of the second messenger moleculesdiacylglycerol (DAG) and inositol 1,4,5-trisphosphate (IP3) ismediated by calcium-activated phosphatidylinositol-specificphospholipase C enzymes. {ECO:0000269|PubMed:15702972}. | Heparin-dependent serine protease inhibitor acting inbody fluids and secretions. Inactivates serine proteases bybinding irreversibly to their serine activation site. Involved inthe regulation of intravascular and extravascular proteolyticactivities. Plays hemostatic roles in the blood plasma. Acts as aprocoagulant and proinflammatory factor by inhibiting theanticoagulant activated protein C factor as well as the generationof activated protein C factor by the thrombin/thrombomodulincomplex. Acts as an anticoagulant factor by inhibiting bloodcoagulation factors like prothrombin, factor XI, factor Xa, plasmakallikrein and fibrinolytic enzymes such as tissue- and urinary-type plasminogen activators. In seminal plasma, inactivatesseveral serine proteases implicated in the reproductive system.Inhibits the serpin acrosin; indirectly protects component of themale genital tract from being degraded by excessive releasedacrosin. Inhibits tissue-and urinary-type plasminogen activator,prostate-specific antigen and kallikrein activities; has a controlon the sperm motility and fertilization. Inhibits the activatedprotein C-catalyzed degradation of SEMG1 and SEMG2; regulates thedegradation of semenogelin during the process of transfer ofspermatozoa from the male reproductive tract into the femaletract. In urine, inhibits urinary-type plasminogen activator andkallikrein activities. Inactivates membrane-anchored serineproteases activities such as MPRSS7 and TMPRSS11E. Inhibitsurinary-type plasminogen activator-dependent tumor cell invasionand metastasis. May also play a non-inhibitory role in seminalplasma and urine as a hydrophobic hormone carrier by its bindingto retinoic acid. {ECO:0000269|PubMed:10340997,ECO:0000269|PubMed:11722589, ECO:0000269|PubMed:14696115,ECO:0000269|PubMed:15140131, ECO:0000269|PubMed:15328353,ECO:0000269|PubMed:15853774, ECO:0000269|PubMed:1725227,ECO:0000269|PubMed:18467335, ECO:0000269|PubMed:2844223,ECO:0000269|PubMed:3501295, ECO:0000269|PubMed:6323392,ECO:0000269|PubMed:7521127, ECO:0000269|PubMed:7548057,ECO:0000269|PubMed:8536714, ECO:0000269|PubMed:8665956,ECO:0000269|PubMed:9473218, ECO:0000269|PubMed:9510955,ECO:0000269|PubMed:9556620}. |
Retention 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 . * 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 PLCH1_SERPINA5 |
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 PLCH1_SERPINA5 |
Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in . |
Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160) |
Hgene | Hgene's interactors | Tgene | Tgene's interactors |
- Retained PPIs in in-frame fusion. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
- Lost PPIs in in-frame fusion. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
- Retained PPIs, but lost function due to frame-shift fusion. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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RelatedDrugs for PLCH1_SERPINA5 |
Drugs targeting genes involved in this fusion gene. (DrugBank Version 5.1.0 2018-04-02) |
Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
Tgene | SERPINA5 | P05154 | DB00013 | Urokinase | Plasma serine protease inhibitor | biotech | approved|investigational|withdrawn |
Tgene | SERPINA5 | P05154 | DB00055 | Drotrecogin alfa | Plasma serine protease inhibitor | biotech | approved|investigational|withdrawn |
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RelatedDiseases for PLCH1_SERPINA5 |
Diseases associated with fusion partners. (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Tgene | SERPINA5 | C0236733 | Amphetamine-Related Disorders | 1 | CTD_human |