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Fusion gene ID: 33780 |
FusionGeneSummary for SHH_KNG1 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: SHH_KNG1 | Fusion gene ID: 33780 | Hgene | Tgene | Gene symbol | SHH | KNG1 | Gene ID | 6469 | 3827 |
| Gene name | sonic hedgehog | kininogen 1 | |
| Synonyms | HHG1|HLP3|HPE3|MCOPCB5|SMMCI|ShhNC|TPT|TPTPS | BDK|BK|HMWK|KNG | |
| Cytomap | 7q36.3 | 3q27.3 | |
| Type of gene | protein-coding | protein-coding | |
| Description | sonic hedgehog proteinshh unprocessed N-terminal signaling and C-terminal autoprocessing domainssonic hedgehog homolog | kininogen-1alpha-2-thiol proteinase inhibitorbradykininfitzgerald factorhigh molecular weight kininogenwilliams-Fitzgerald-Flaujeac factor | |
| Modification date | 20180520 | 20180523 | |
| UniProtAcc | Q15465 | P01042 | |
| Ensembl transtripts involved in fusion gene | ENST00000297261, ENST00000472308, | ENST00000287611, ENST00000265023, ENST00000447445, | |
| Fusion gene scores | * DoF score | 3 X 3 X 3=27 | 4 X 4 X 4=64 |
| # 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(5/64*10)=-0.356143810225275 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: SHH [Title/Abstract] AND KNG1 [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 | 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 | KNG1 | GO:0007162 | negative regulation of cell adhesion | 11970955 |
| Tgene | KNG1 | GO:0007204 | positive regulation of cytosolic calcium ion concentration | 16014619 |
| Tgene | KNG1 | GO:0030195 | negative regulation of blood coagulation | 11970955 |
| Tgene | KNG1 | GO:0045861 | negative regulation of proteolysis | 3488317 |
| 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 |
| TCGA | LD | LIHC | TCGA-FV-A495-01A | SHH | chr7 | 155595728 | - | KNG1 | chr3 | 186459311 | + |
| * 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-3CDS | ENST00000297261 | ENST00000287611 | SHH | chr7 | 155595728 | - | KNG1 | chr3 | 186459311 | + |
| intron-3CDS | ENST00000297261 | ENST00000265023 | SHH | chr7 | 155595728 | - | KNG1 | chr3 | 186459311 | + |
| intron-3CDS | ENST00000297261 | ENST00000447445 | SHH | chr7 | 155595728 | - | KNG1 | chr3 | 186459311 | + |
| intron-3CDS | ENST00000472308 | ENST00000287611 | SHH | chr7 | 155595728 | - | KNG1 | chr3 | 186459311 | + |
| intron-3CDS | ENST00000472308 | ENST00000265023 | SHH | chr7 | 155595728 | - | KNG1 | chr3 | 186459311 | + |
| intron-3CDS | ENST00000472308 | ENST00000447445 | SHH | chr7 | 155595728 | - | KNG1 | chr3 | 186459311 | + |
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FusionProtFeatures for SHH_KNG1 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| SHH | KNG1 |
| 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}. | (1) Kininogens are inhibitors of thiol proteases; (2)HMW-kininogen plays an important role in blood coagulation byhelping to position optimally prekallikrein and factor XI next tofactor XII; (3) HMW-kininogen inhibits the thrombin- and plasmin-induced aggregation of thrombocytes; (4) the active peptidebradykinin that is released from HMW-kininogen shows a variety ofphysiological effects: (4A) influence in smooth musclecontraction, (4B) induction of hypotension, (4C) natriuresis anddiuresis, (4D) decrease in blood glucose level, (4E) it is amediator of inflammation and causes (4E1) increase in vascularpermeability, (4E2) stimulation of nociceptors (4E3) release ofother mediators of inflammation (e.g. prostaglandins), (4F) it hasa cardioprotective effect (directly via bradykinin action,indirectly via endothelium-derived relaxing factor action); (5)LMW-kininogen inhibits the aggregation of thrombocytes; (6) LMW-kininogen is in contrast to HMW-kininogen not involved in bloodclotting. |
| 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 SHH_KNG1 |
| 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_KNG1 |
| 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 |
| SHH | SHH, SYVN1, DERL1, DERL2, SEL1L, EDEM1, EDEM2, EDEM3 | KNG1 | PLAUR, KLKB1, F11, KRT1, VTN, FTL, PLG, ELANE, ITGB2, CD93, COPS6, ECE1, GDPD1, TUBB8, ANAPC1, CAPN1, CTSO, P3H4, CTSV, ANAPC5, PPP2CA, LEPREL2, TCTN1, CAPNS1, HLA-DPB1, VHL, ZNF562, MEP1A, PPP2R2C, SNX27, MRC2 |
| - 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 SHH_KNG1 |
| 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 | KNG1 | P01042 | DB01593 | Zinc | Kininogen-1 | small molecule | approved|investigational |
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RelatedDiseases for SHH_KNG1 |
| Diseases associated with fusion partners. (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 | KNG1 | C0020429 | Hyperalgesia | 17 | CTD_human |
| Tgene | KNG1 | C0020649 | Hypotension | 9 | CTD_human |
| Tgene | KNG1 | C0030193 | Pain | 6 | CTD_human |
| Tgene | KNG1 | C0011609 | Drug Eruptions | 2 | CTD_human |
| Tgene | KNG1 | C0027055 | Myocardial Reperfusion Injury | 2 | CTD_human |
| Tgene | KNG1 | C2609414 | Acute kidney injury | 2 | CTD_human |
| Tgene | KNG1 | C0002792 | anaphylaxis | 1 | CTD_human |
| Tgene | KNG1 | C0003811 | Cardiac Arrhythmia | 1 | CTD_human |
| Tgene | KNG1 | C0010200 | Coughing | 1 | CTD_human |
| Tgene | KNG1 | C0013604 | Edema | 1 | CTD_human |
| Tgene | KNG1 | C0015379 | Extravasation of Diagnostic and Therapeutic Materials | 1 | CTD_human |
| Tgene | KNG1 | C0019243 | Angioedemas, Hereditary | 1 | CTD_human |
| Tgene | KNG1 | C0020452 | Hyperemia | 1 | CTD_human |
| Tgene | KNG1 | C0020453 | Hyperesthesia | 1 | CTD_human |
| Tgene | KNG1 | C0020517 | Hypersensitivity | 1 | CTD_human |
| Tgene | KNG1 | C0020538 | Hypertensive disease | 1 | CTD_human |
| Tgene | KNG1 | C0023893 | Liver Cirrhosis, Experimental | 1 | CTD_human |
| Tgene | KNG1 | C0024667 | Animal Mammary Neoplasms | 1 | CTD_human |
| Tgene | KNG1 | C0039231 | Tachycardia | 1 | CTD_human |
| Tgene | KNG1 | C0428977 | Bradycardia | 1 | CTD_human |
| Tgene | KNG1 | C2931758 | Acquired angioedema | 1 | CTD_human |
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