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Fusion gene ID: 33781 |
FusionGeneSummary for SHH_PLCB1 |
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Fusion gene information | Fusion gene name: SHH_PLCB1 | Fusion gene ID: 33781 | Hgene | Tgene | Gene symbol | SHH | PLCB1 | Gene ID | 6469 | 23236 |
Gene name | sonic hedgehog | phospholipase C beta 1 | |
Synonyms | HHG1|HLP3|HPE3|MCOPCB5|SMMCI|ShhNC|TPT|TPTPS | EIEE12|PI-PLC|PLC-154|PLC-I|PLC-beta-1|PLC154|PLCB1A|PLCB1B | |
Cytomap | 7q36.3 | 20p12.3 | |
Type of gene | protein-coding | protein-coding | |
Description | sonic hedgehog proteinshh unprocessed N-terminal signaling and C-terminal autoprocessing domainssonic hedgehog homolog | 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase beta-11-phosphatidyl-D-myo-inositol-4,5-bisphosphateinositoltrisphosphohydrolasemonophosphatidylinositol phosphodiesterasephosphoinositidase Cphospholipase C, beta 1 (phosphoinositide-specific | |
Modification date | 20180520 | 20180519 | |
UniProtAcc | Q15465 | Q9NQ66 | |
Ensembl transtripts involved in fusion gene | ENST00000297261, ENST00000472308, | ENST00000378641, ENST00000338037, ENST00000378637, ENST00000494924, | |
Fusion gene scores | * DoF score | 3 X 3 X 3=27 | 6 X 5 X 4=120 |
# samples | 3 | 5 | |
** MAII score | log2(3/27*10)=0.15200309344505 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | log2(5/120*10)=-1.26303440583379 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
Context | PubMed: SHH [Title/Abstract] AND PLCB1 [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 | SHH | GO:0008284 | positive regulation of cell proliferation | 11331587 |
Hgene | SHH | GO:0043369 | CD4-positive or CD8-positive, alpha-beta T cell lineage commitment | 17227833 |
Hgene | SHH | GO:0045880 | positive regulation of smoothened signaling pathway | 19561609 |
Hgene | SHH | GO:0045893 | positive regulation of transcription, DNA-templated | 10654605 |
Hgene | SHH | GO:0051781 | positive regulation of cell division | 11331587 |
Hgene | SHH | GO:0060738 | epithelial-mesenchymal signaling involved in prostate gland development | 12221011 |
Hgene | SHH | GO:0061189 | positive regulation of sclerotome development | 10654605 |
Hgene | SHH | GO:1900180 | regulation of protein localization to nucleus | 11331587 |
Tgene | PLCB1 | GO:0035722 | interleukin-12-mediated signaling pathway | 11743656 |
Tgene | PLCB1 | GO:0035723 | interleukin-15-mediated signaling pathway | 11743656 |
Tgene | PLCB1 | GO:0046330 | positive regulation of JNK cascade | 9500449 |
Tgene | PLCB1 | GO:0070498 | interleukin-1-mediated signaling pathway | 8872139 |
![]() (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 | RV | LUSC | TCGA-77-A5G3-01A | SHH | chr7 | 155604517 | - | PLCB1 | chr20 | 8696911 | + |
* 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 |
Frame-shift | ENST00000297261 | ENST00000378641 | SHH | chr7 | 155604517 | - | PLCB1 | chr20 | 8696911 | + |
Frame-shift | ENST00000297261 | ENST00000338037 | SHH | chr7 | 155604517 | - | PLCB1 | chr20 | 8696911 | + |
Frame-shift | ENST00000297261 | ENST00000378637 | SHH | chr7 | 155604517 | - | PLCB1 | chr20 | 8696911 | + |
5CDS-3UTR | ENST00000297261 | ENST00000494924 | SHH | chr7 | 155604517 | - | PLCB1 | chr20 | 8696911 | + |
intron-3CDS | ENST00000472308 | ENST00000378641 | SHH | chr7 | 155604517 | - | PLCB1 | chr20 | 8696911 | + |
intron-3CDS | ENST00000472308 | ENST00000338037 | SHH | chr7 | 155604517 | - | PLCB1 | chr20 | 8696911 | + |
intron-3CDS | ENST00000472308 | ENST00000378637 | SHH | chr7 | 155604517 | - | PLCB1 | chr20 | 8696911 | + |
intron-3UTR | ENST00000472308 | ENST00000494924 | SHH | chr7 | 155604517 | - | PLCB1 | chr20 | 8696911 | + |
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FusionProtFeatures for SHH_PLCB1 |
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Hgene | Tgene |
SHH | PLCB1 |
Sonic hedgehog protein: The C-terminal part of the sonichedgehog protein precursor displays an autoproteolysis and acholesterol transferase activity (By similarity). Both activitiesresult in the cleavage of the full-length protein into two parts(ShhN and ShhC) followed by the covalent attachment of acholesterol moiety to the C-terminal of the newly generated ShhN(By similarity). Both activities occur in the reticulumendoplasmic (By similarity). Once cleaved, ShhC is degraded in theendoplasmic reticulum (By similarity).{ECO:0000250|UniProtKB:Q62226}. Sonic hedgehog protein N-product: The dually lipidatedsonic hedgehog protein N-product (ShhNp) is a morphogen which isessential for a variety of patterning events during development.Induces ventral cell fate in the neural tube and somites(PubMed:24863049). Involved in the patterning of the anterior-posterior axis of the developing limb bud (By similarity).Essential for axon guidance (By similarity). Binds to the patched(PTCH1) receptor, which functions in association with smoothened(SMO), to activate the transcription of target genes(PubMed:10753901). In the absence of SHH, PTCH1 represses theconstitutive signaling activity of SMO (PubMed:10753901).{ECO:0000250|UniProtKB:Q62226, ECO:0000269|PubMed:10753901,ECO:0000269|PubMed:24863049, ECO:0000303|PubMed:24522195}. |
![]() * 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 SHH_PLCB1 |
![]() (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 SHH_PLCB1 |
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Hgene | Hgene's interactors | Tgene | Tgene's interactors |
SHH | SHH, SYVN1, DERL1, DERL2, SEL1L, EDEM1, EDEM2, EDEM3 | PLCB1 | TRPM7, SLC9A3R1, SPTBN1, KRIT1, PCF11, GNA11, GNAQ, PLCB1, CTBP1, CTBP2, TFCP2, CEP76, BTN2A1, PTGER3, GAN, DEF8 |
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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 SHH_PLCB1 |
![]() (DrugBank Version 5.1.0 2018-04-02) |
Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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RelatedDiseases for SHH_PLCB1 |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Hgene | SHH | C1840529 | HOLOPROSENCEPHALY 3 | 13 | CTD_human;UNIPROT |
Hgene | SHH | C0079541 | Holoprosencephaly | 3 | CTD_human;HPO |
Hgene | SHH | C1840235 | SOLITARY MEDIAN MAXILLARY CENTRAL INCISOR | 2 | CTD_human;HPO;ORPHANET;UNIPROT |
Hgene | SHH | C0015393 | Eye Abnormalities | 1 | CTD_human |
Hgene | SHH | C0015923 | Fetal Alcohol Syndrome | 1 | PSYGENET |
Hgene | SHH | C0030569 | Secondary Parkinson Disease | 1 | CTD_human |
Hgene | SHH | C2239176 | Liver carcinoma | 1 | CTD_human |
Hgene | SHH | C2985290 | Fetal Alcohol Spectrum Disorders | 1 | PSYGENET |
Tgene | PLCB1 | C0005586 | Bipolar Disorder | 1 | PSYGENET |
Tgene | PLCB1 | C0009375 | Colonic Neoplasms | 1 | CTD_human |
Tgene | PLCB1 | C0030193 | Pain | 1 | CTD_human |
Tgene | PLCB1 | C0036341 | Schizophrenia | 1 | CTD_human |
Tgene | PLCB1 | C0041696 | Unipolar Depression | 1 | PSYGENET |
Tgene | PLCB1 | C1269683 | Major Depressive Disorder | 1 | PSYGENET |
Tgene | PLCB1 | C3463824 | MYELODYSPLASTIC SYNDROME | 1 | CTD_human |