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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: 33781

FusionGeneSummary for SHH_PLCB1

check button Fusion gene summary
Fusion gene informationFusion gene name: SHH_PLCB1
Fusion gene ID: 33781
HgeneTgene
Gene symbol

SHH

PLCB1

Gene ID

6469

23236

Gene namesonic hedgehogphospholipase C beta 1
SynonymsHHG1|HLP3|HPE3|MCOPCB5|SMMCI|ShhNC|TPT|TPTPSEIEE12|PI-PLC|PLC-154|PLC-I|PLC-beta-1|PLC154|PLCB1A|PLCB1B
Cytomap

7q36.3

20p12.3

Type of geneprotein-codingprotein-coding
Descriptionsonic hedgehog proteinshh unprocessed N-terminal signaling and C-terminal autoprocessing domainssonic hedgehog homolog1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase beta-11-phosphatidyl-D-myo-inositol-4,5-bisphosphateinositoltrisphosphohydrolasemonophosphatidylinositol phosphodiesterasephosphoinositidase Cphospholipase C, beta 1 (phosphoinositide-specific
Modification date2018052020180519
UniProtAcc

Q15465

Q9NQ66

Ensembl transtripts involved in fusion geneENST00000297261, ENST00000472308, 
ENST00000378641, ENST00000338037, 
ENST00000378637, ENST00000494924, 
Fusion gene scores* DoF score3 X 3 X 3=276 X 5 X 4=120
# samples 35
** MAII scorelog2(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)

check button Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez
PartnerGeneGO IDGO termPubMed ID
HgeneSHH

GO:0008284

positive regulation of cell proliferation

11331587

HgeneSHH

GO:0043369

CD4-positive or CD8-positive, alpha-beta T cell lineage commitment

17227833

HgeneSHH

GO:0045880

positive regulation of smoothened signaling pathway

19561609

HgeneSHH

GO:0045893

positive regulation of transcription, DNA-templated

10654605

HgeneSHH

GO:0051781

positive regulation of cell division

11331587

HgeneSHH

GO:0060738

epithelial-mesenchymal signaling involved in prostate gland development

12221011

HgeneSHH

GO:0061189

positive regulation of sclerotome development

10654605

HgeneSHH

GO:1900180

regulation of protein localization to nucleus

11331587

TgenePLCB1

GO:0035722

interleukin-12-mediated signaling pathway

11743656

TgenePLCB1

GO:0035723

interleukin-15-mediated signaling pathway

11743656

TgenePLCB1

GO:0046330

positive regulation of JNK cascade

9500449

TgenePLCB1

GO:0070498

interleukin-1-mediated signaling pathway

8872139


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
TCGARVLUSCTCGA-77-A5G3-01ASHHchr7

155604517

-PLCB1chr20

8696911

+
* 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
Frame-shitENST00000297261ENST00000378641SHHchr7

155604517

-PLCB1chr20

8696911

+
Frame-shitENST00000297261ENST00000338037SHHchr7

155604517

-PLCB1chr20

8696911

+
Frame-shitENST00000297261ENST00000378637SHHchr7

155604517

-PLCB1chr20

8696911

+
5CDS-3UTRENST00000297261ENST00000494924SHHchr7

155604517

-PLCB1chr20

8696911

+
intron-3CDSENST00000472308ENST00000378641SHHchr7

155604517

-PLCB1chr20

8696911

+
intron-3CDSENST00000472308ENST00000338037SHHchr7

155604517

-PLCB1chr20

8696911

+
intron-3CDSENST00000472308ENST00000378637SHHchr7

155604517

-PLCB1chr20

8696911

+
intron-3UTRENST00000472308ENST00000494924SHHchr7

155604517

-PLCB1chr20

8696911

+

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FusionProtFeatures for SHH_PLCB1


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

Q15465

PLCB1

Q9NQ66

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}.

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 SHH_PLCB1


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 SHH_PLCB1


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
SHHSHH, SYVN1, DERL1, DERL2, SEL1L, EDEM1, EDEM2, EDEM3PLCB1TRPM7, SLC9A3R1, SPTBN1, KRIT1, PCF11, GNA11, GNAQ, PLCB1, CTBP1, CTBP2, TFCP2, CEP76, BTN2A1, PTGER3, GAN, DEF8


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 SHH_PLCB1


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 SHH_PLCB1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneSHHC1840529HOLOPROSENCEPHALY 313CTD_human;UNIPROT
HgeneSHHC0079541Holoprosencephaly3CTD_human;HPO
HgeneSHHC1840235SOLITARY MEDIAN MAXILLARY CENTRAL INCISOR2CTD_human;HPO;ORPHANET;UNIPROT
HgeneSHHC0015393Eye Abnormalities1CTD_human
HgeneSHHC0015923Fetal Alcohol Syndrome1PSYGENET
HgeneSHHC0030569Secondary Parkinson Disease1CTD_human
HgeneSHHC2239176Liver carcinoma1CTD_human
HgeneSHHC2985290Fetal Alcohol Spectrum Disorders1PSYGENET
TgenePLCB1C0005586Bipolar Disorder1PSYGENET
TgenePLCB1C0009375Colonic Neoplasms1CTD_human
TgenePLCB1C0030193Pain1CTD_human
TgenePLCB1C0036341Schizophrenia1CTD_human
TgenePLCB1C0041696Unipolar Depression1PSYGENET
TgenePLCB1C1269683Major Depressive Disorder1PSYGENET
TgenePLCB1C3463824MYELODYSPLASTIC SYNDROME1CTD_human