|
Fusion gene ID: 13747 |
FusionGeneSummary for FOS_SPTBN1 |
Fusion gene summary |
Fusion gene information | Fusion gene name: FOS_SPTBN1 | Fusion gene ID: 13747 | Hgene | Tgene | Gene symbol | FOS | SPTBN1 | Gene ID | 2353 | 6711 |
Gene name | Fos proto-oncogene, AP-1 transcription factor subunit | spectrin beta, non-erythrocytic 1 | |
Synonyms | AP-1|C-FOS|p55 | ELF|HEL102|SPTB2|betaSpII | |
Cytomap | 14q24.3 | 2p16.2 | |
Type of gene | protein-coding | protein-coding | |
Description | proto-oncogene c-FosFBJ murine osteosarcoma viral (v-fos) oncogene homolog (oncogene FOS)FBJ murine osteosarcoma viral oncogene homologFos proto-oncogene, AP-1 trancription factor subunitG0/G1 switch regulatory protein 7activator protein 1cellular o | spectrin beta chain, non-erythrocytic 1beta-G spectrinbeta-II spectrinbeta-fodrinbeta-spectrin 2beta-spectrin IIbeta-spectrin non-erythrocytic 1embryonic liver beta-fodrinepididymis luminal protein 102fodrin beta chainspectrin beta chain, brain | |
Modification date | 20180523 | 20180522 | |
UniProtAcc | P01100 | Q01082 | |
Ensembl transtripts involved in fusion gene | ENST00000303562, ENST00000554617, ENST00000556324, ENST00000535987, ENST00000555242, ENST00000555686, ENST00000555347, | ENST00000356805, ENST00000333896, | |
Fusion gene scores | * DoF score | 4 X 7 X 1=28 | 13 X 13 X 6=1014 |
# samples | 7 | 15 | |
** MAII score | log2(7/28*10)=1.32192809488736 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | log2(15/1014*10)=-2.75702324650746 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
Context | PubMed: FOS [Title/Abstract] AND SPTBN1 [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 | FOS | GO:0007179 | transforming growth factor beta receptor signaling pathway | 9732876 |
Hgene | FOS | GO:0034614 | cellular response to reactive oxygen species | 17217916 |
Hgene | FOS | GO:0045893 | positive regulation of transcription, DNA-templated | 9732876 |
Hgene | FOS | GO:0045944 | positive regulation of transcription by RNA polymerase II | 10508860 |
Hgene | FOS | GO:0060395 | SMAD protein signal transduction | 9732876 |
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 | BI045531 | FOS | chr14 | 75746437 | + | SPTBN1 | chr2 | 54891170 | + |
* 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 | ENST00000303562 | ENST00000356805 | FOS | chr14 | 75746437 | + | SPTBN1 | chr2 | 54891170 | + |
intron-intron | ENST00000303562 | ENST00000333896 | FOS | chr14 | 75746437 | + | SPTBN1 | chr2 | 54891170 | + |
intron-intron | ENST00000554617 | ENST00000356805 | FOS | chr14 | 75746437 | + | SPTBN1 | chr2 | 54891170 | + |
intron-intron | ENST00000554617 | ENST00000333896 | FOS | chr14 | 75746437 | + | SPTBN1 | chr2 | 54891170 | + |
intron-intron | ENST00000556324 | ENST00000356805 | FOS | chr14 | 75746437 | + | SPTBN1 | chr2 | 54891170 | + |
intron-intron | ENST00000556324 | ENST00000333896 | FOS | chr14 | 75746437 | + | SPTBN1 | chr2 | 54891170 | + |
intron-intron | ENST00000535987 | ENST00000356805 | FOS | chr14 | 75746437 | + | SPTBN1 | chr2 | 54891170 | + |
intron-intron | ENST00000535987 | ENST00000333896 | FOS | chr14 | 75746437 | + | SPTBN1 | chr2 | 54891170 | + |
intron-intron | ENST00000555242 | ENST00000356805 | FOS | chr14 | 75746437 | + | SPTBN1 | chr2 | 54891170 | + |
intron-intron | ENST00000555242 | ENST00000333896 | FOS | chr14 | 75746437 | + | SPTBN1 | chr2 | 54891170 | + |
5UTR-intron | ENST00000555686 | ENST00000356805 | FOS | chr14 | 75746437 | + | SPTBN1 | chr2 | 54891170 | + |
5UTR-intron | ENST00000555686 | ENST00000333896 | FOS | chr14 | 75746437 | + | SPTBN1 | chr2 | 54891170 | + |
intron-intron | ENST00000555347 | ENST00000356805 | FOS | chr14 | 75746437 | + | SPTBN1 | chr2 | 54891170 | + |
intron-intron | ENST00000555347 | ENST00000333896 | FOS | chr14 | 75746437 | + | SPTBN1 | chr2 | 54891170 | + |
Top |
FusionProtFeatures for FOS_SPTBN1 |
Main function of each fusion partner protein. (from UniProt) |
Hgene | Tgene |
FOS | SPTBN1 |
Nuclear phosphoprotein which forms a tight but non-covalently linked complex with the JUN/AP-1 transcription factor.In the heterodimer, FOS and JUN/AP-1 basic regions each seems tointeract with symmetrical DNA half sites. On TGF-beta activation,forms a multimeric SMAD3/SMAD4/JUN/FOS complex at the AP1/SMAD-binding site to regulate TGF-beta-mediated signaling. Has acritical function in regulating the development of cells destinedto form and maintain the skeleton. It is thought to have animportant role in signal transduction, cell proliferation anddifferentiation. In growing cells, activates phospholipidsynthesis, possibly by activating CDS1 and PI4K2A. This activityrequires Tyr-dephosphorylation and association with theendoplasmic reticulum. {ECO:0000269|PubMed:16055710,ECO:0000269|PubMed:17160021, ECO:0000269|PubMed:22105363,ECO:0000269|PubMed:7588633, ECO:0000269|PubMed:9732876}. | Fodrin, which seems to be involved in secretion,interacts with calmodulin in a calcium-dependent manner and isthus candidate for the calcium-dependent movement of thecytoskeleton at the membrane. |
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 |
Top |
FusionGeneSequence for FOS_SPTBN1 |
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). |
Top |
FusionGenePPI for FOS_SPTBN1 |
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 |
Top |
RelatedDrugs for FOS_SPTBN1 |
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 |
Hgene | FOS | P01100 | DB08813 | Nadroparin | Proto-oncogene c-Fos | small molecule | approved|investigational |
Tgene | SPTBN1 | Q01082 | DB01373 | Calcium | Spectrin beta chain, non-erythrocytic 1 | small molecule | approved|nutraceutical |
Top |
RelatedDiseases for FOS_SPTBN1 |
Diseases associated with fusion partners. (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Hgene | FOS | C0036572 | Seizures | 4 | CTD_human |
Hgene | FOS | C0038220 | Status Epilepticus | 4 | CTD_human |
Hgene | FOS | C0038587 | Substance Withdrawal Syndrome | 3 | CTD_human |
Hgene | FOS | C0236736 | Cocaine-Related Disorders | 3 | CTD_human |
Hgene | FOS | C0020538 | Hypertensive disease | 2 | CTD_human |
Hgene | FOS | C0003469 | Anxiety Disorders | 1 | CTD_human |
Hgene | FOS | C0011570 | Mental Depression | 1 | PSYGENET |
Hgene | FOS | C0011581 | Depressive disorder | 1 | PSYGENET |
Hgene | FOS | C0014175 | Endometriosis | 1 | CTD_human |
Hgene | FOS | C0014544 | Epilepsy | 1 | CTD_human |
Hgene | FOS | C0016063 | Osteitis Fibrosa Disseminata | 1 | CTD_human |
Hgene | FOS | C0018843 | Heat Stroke | 1 | CTD_human |
Hgene | FOS | C0019080 | Hemorrhage | 1 | CTD_human |
Hgene | FOS | C0020429 | Hyperalgesia | 1 | CTD_human |
Hgene | FOS | C0023893 | Liver Cirrhosis, Experimental | 1 | CTD_human |
Hgene | FOS | C0024121 | Lung Neoplasms | 1 | CTD_human |
Hgene | FOS | C0027765 | nervous system disorder | 1 | CTD_human |
Hgene | FOS | C0035126 | Reperfusion Injury | 1 | CTD_human |
Hgene | FOS | C0040997 | Trigeminal Neuralgia | 1 | CTD_human |
Hgene | FOS | C0041696 | Unipolar Depression | 1 | PSYGENET |
Hgene | FOS | C0235032 | Neurotoxicity Syndromes | 1 | CTD_human |
Hgene | FOS | C0236733 | Amphetamine-Related Disorders | 1 | CTD_human |
Hgene | FOS | C0270458 | Severe major depression with psychotic features | 1 | PSYGENET |
Hgene | FOS | C0424295 | Hyperactive behavior | 1 | CTD_human |
Hgene | FOS | C0740392 | Infarction, Middle Cerebral Artery | 1 | CTD_human |
Hgene | FOS | C0743072 | Depression, psychotic | 1 | PSYGENET |
Hgene | FOS | C1269683 | Major Depressive Disorder | 1 | PSYGENET |
Hgene | FOS | C1458155 | Mammary Neoplasms | 1 | CTD_human |
Hgene | FOS | C1862939 | AMYOTROPHIC LATERAL SCLEROSIS 1 | 1 | CTD_human |
Hgene | FOS | C2239176 | Liver carcinoma | 1 | CTD_human |
Hgene | FOS | C3495559 | Juvenile arthritis | 1 | CTD_human |
Tgene | SPTBN1 | C0043094 | Weight Gain | 1 | CTD_human |