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| Open reading frame (ORF) annotation in the exon skipping event |
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| 3'-UTR located exon skipping events lost miRNA binding sites |
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| Splicing Quantitative Trait Loci (sQTLs) in the skipped exons |
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Gene summary for FUS |
 Gene summary |
| Gene information | Gene symbol | FUS | Gene ID | 2521 |
| Gene name | FUS RNA binding protein | |
| Synonyms | ALS6|ETM4|FUS1|HNRNPP2|POMP75|TLS | |
| Cytomap | 16p11.2 | |
| Type of gene | protein-coding | |
| Description | RNA-binding protein FUS75 kDa DNA-pairing proteinfus-like proteinfused in sarcomafusion gene in myxoid liposarcomaheterogeneous nuclear ribonucleoprotein P2oncogene FUSoncogene TLStranslocated in liposarcoma protein | |
| Modification date | 20200329 | |
| UniProtAcc | ||
| Context |
| Gene ontology of each this gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
| Gene | GO ID | GO term | PubMed ID |
| FUS | GO:0006355 | regulation of transcription, DNA-templated | 26124092 |
| FUS | GO:0006357 | regulation of transcription by RNA polymerase II | 25453086 |
| FUS | GO:0008380 | RNA splicing | 26124092 |
| FUS | GO:0043484 | regulation of RNA splicing | 25453086|27731383 |
| FUS | GO:0048255 | mRNA stabilization | 27378374 |
| FUS | GO:0051260 | protein homooligomerization | 25453086 |
| FUS | GO:1905168 | positive regulation of double-strand break repair via homologous recombination | 10567410 |
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Gene structures and expression levels for FUS |
| Skipped exons in the ROSMAP, MSBB, and Mayo based on Ensembl gene isoform structure. * Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
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ENSG00000089280
| Differentially expressed gene analysis across multiple brain tissues between AD and control. |
| Tissue type | DEG direction | Base mean exp. | log2FC(AD/control) | P-value | Adj. p-value |
| Differentially expressed isoform analysis across multiple brain tissues between AD and control. |
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| Tissue type | DEG direction | ENST | Transcript info. | Base mean exp. | log2FC(AD/control) | P-value | Adjc. p-value |
| CB | DOWN | ENST00000568901.2 | FUS-211:retained_intron:FUS | 1.087659e+02 | -2.187019e+00 | 1.924670e-06 | 2.614845e-05 |
| CB | DOWN | ENST00000569760.5 | FUS-212:retained_intron:FUS | 6.604308e+02 | -1.319345e+00 | 2.975794e-05 | 2.647907e-04 |
| TC | DOWN | ENST00000569760.5 | FUS-212:retained_intron:FUS | 3.753132e+02 | -1.211465e+00 | 3.302747e-05 | 6.658548e-04 |
| Landscape of isoform expressions across multiple brain tissues between AD and control. |
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Exon skipping events with PSIs in ROSMAP, MSBB, and Mayo for FUS |
| Landscape of individual exon skipping event across AD tissues and controls (PSI heatmap). |
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| All exon skipping events in AD cohorts. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon |
| exon_skip_126864 | chr16 | 31189665:31189794:31190040:31190141:31190275:31190398 | 31190040:31190141 |
| exon_skip_13960 | chr16 | 31188325:31188357:31189123:31189226:31189665:31189695 | 31189123:31189226 |
| exon_skip_16383 | chr16 | 31185094:31185179:31186802:31186836:31188325:31188357 | 31186802:31186836 |
| exon_skip_169000 | chr16 | 31185164:31185179:31186802:31186836:31188325:31188357 | 31186802:31186836 |
| exon_skip_190784 | chr16 | 31185080:31185179:31186802:31186836:31188325:31188357 | 31186802:31186836 |
| exon_skip_197748 | chr16 | 31182398:31182422:31182513:31182664:31183858:31184002 | 31182513:31182664 |
| exon_skip_235899 | chr16 | 31185170:31185179:31186802:31186836:31188325:31188357 | 31186802:31186836 |
| exon_skip_278925 | chr16 | 31185095:31185179:31186802:31186836:31188325:31188357 | 31186802:31186836 |
| exon_skip_282541 | chr16 | 31182398:31182422:31182513:31182664:31183861:31184002 | 31182513:31182664 |
| exon_skip_49230 | chr16 | 31188325:31188357:31189120:31189226:31189665:31189695 | 31189120:31189226 |
| exon_skip_52456 | chr16 | 31190275:31190398:31190742:31190842:31190963:31191102 | 31190742:31190842 |
| exon_skip_75089 | chr16 | 31189123:31189226:31189665:31189794:31190040:31190120 | 31189665:31189794 |
| Differentially expressed PSI values of individual exon skipping events in multiple brain tissues between AD and control. |
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| Exon skipping information | Tissue type | Avg(PSIs) in AD | Avg(PSIs) in control | Difference (PSI) | Adj. p-value |
| exon_skip_49230 | Mayo_CB | 5.590000e-01 | 7.550000e-01 | -1.960000e-01 | 7.684476e-05 |
| exon_skip_56818 | Mayo_CB | 7.446774e-01 | 9.364912e-01 | -1.918138e-01 | 3.762346e-03 |
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Open reading frame (ORF) annotation in the exon skipping event for FUS |
| Open reading frame (ORF) of individual exon skipping events in ROSMAP based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
| ENST00000254108 | 31186802 | 31186836 | Frame-shift |
| ENST00000254108 | 31189123 | 31189226 | Frame-shift |
| ENST00000254108 | 31190742 | 31190842 | Frame-shift |
| Open reading frame (ORF) of individual exon skipping events in MSBB based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
| ENST00000254108 | 31186802 | 31186836 | Frame-shift |
| Open reading frame (ORF) of individual exon skipping events in Mayo based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
| ENST00000254108 | 31182513 | 31182664 | Frame-shift |
| ENST00000254108 | 31186802 | 31186836 | Frame-shift |
| ENST00000254108 | 31189123 | 31189226 | Frame-shift |
| ENST00000254108 | 31189665 | 31189794 | Frame-shift |
| ENST00000254108 | 31190742 | 31190842 | Frame-shift |
| ENST00000254108 | 31190040 | 31190141 | In-frame |
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Infer the effects of exon skipping event on protein functional features for FUS |
p-ENSG00000089280_img4.png |
| Loci of skipped exons in ROSMAP across genomic, transcript, and protein sequence levels of In-frame cases. |
| ENST | Length of mRNA | Length of AA seq. | Genomic start | Genomic end | mRNA start | mRNA end | AA start | AA end |
| Loci of skipped exons in MSBB across genomic, transcript, and protein sequence levels of In-frame cases. |
| ENST | Length of mRNA | Length of AA seq. | Genomic start | Genomic end | mRNA start | mRNA end | AA start | AA end |
| Loci of skipped exons in Mayo across genomic, transcript, and protein sequence levels of In-frame cases. |
| ENST | Length of mRNA | Length of AA seq. | Genomic start | Genomic end | mRNA start | mRNA end | AA start | AA end |
| ENST00000254108 | 5136 | 526 | 31190040 | 31190141 | 1173 | 1273 | 356 | 389 |
| Lost protein functional features of individual exon skipping events in ROSMAP. |
| UniProt acc. | Start of exon skipping (AA) | End of exon skipping (AA) | Protein feature start (AA) | Protein feature end (AA) | Category of protein feature | Description of feature |
| Lost protein functional features of individual exon skipping events in MSBB. |
| UniProt acc. | Start of exon skipping (AA) | End of exon skipping (AA) | Protein feature start (AA) | Protein feature end (AA) | Category of protein feature | Description of feature |
| Lost protein functional features of individual exon skipping events in Mayo. |
| UniProt acc. | Start of exon skipping (AA) | End of exon skipping (AA) | Protein feature start (AA) | Protein feature end (AA) | Category of protein feature | Description of feature |
| P35637 | 356 | 389 | 358 | 363 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2LA6 |
| P35637 | 356 | 389 | 365 | 368 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2LA6 |
| P35637 | 356 | 389 | 379 | 381 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2LCW |
| P35637 | 356 | 389 | 1 | 526 | Chain | ID=PRO_0000081591;Note=RNA-binding protein FUS |
| P35637 | 356 | 389 | 371 | 526 | Compositional bias | Note=Arg/Gly-rich |
| P35637 | 356 | 389 | 285 | 371 | Domain | Note=RRM;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00176 |
| P35637 | 356 | 389 | 377 | 377 | Modified residue | Note=Asymmetric dimethylarginine;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:12964758;Dbxref=PMID:12964758 |
| P35637 | 356 | 389 | 383 | 383 | Modified residue | Note=Asymmetric dimethylarginine;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:12964758;Dbxref=PMID:12964758 |
| P35637 | 356 | 389 | 386 | 386 | Modified residue | Note=Asymmetric dimethylarginine;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:12964758;Dbxref=PMID:12964758 |
| P35637 | 356 | 389 | 388 | 388 | Modified residue | Note=Asymmetric dimethylarginine;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:12964758;Dbxref=PMID:12964758 |
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3'-UTR located exon skipping events that lost miRNA binding sites in FUS |
| 3'-UTR exon skipping evnets lost miRNA binding. |
| Tissue type | ENST | Exon skip start | Exon skip end | microRNA | Binding site by TargetScan | Binding type by TargetScan | Bdinding site by miRanda | Score of miRanda | Energy by miRanda |
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SNVs in the skipped exons for FUS |
| - Differential PSIs between mutated versus non-mutated samples. |
| - Depth of Coverage in the skipped exon of the mutated samples. |
| - Sashimi plot in the skipped exon of the mutated samples. |
| - Non-synonymous mutations located in the skipped exons. |
| Cancer type | Sample | ESID | Skipped exon start | Skipped exon end | Mutation start | Mutation end | Mutation type | Reference seq | Mutation seq | AAchange |
| - Non-synonymous mutations located in the skipped exons in CCLE. |
| Sample | Skipped exon start | Skipped exon end | Mutation start | Mutation end | Mutation type | Reference seq | Mutation seq | AAchange |
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AD stage-associated exon skippint events for FUS |
| Associated exon skipping events with Braak staging or Clinical Dementia Rating (CDR). |
| AD stage info | Cohort | Tissue | SE id | Coefficient | P-value | Chromosome | Strand | E1 start | E1 end | Skipped start | Skipped end | E2 start | E2 end |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for FUS |
| sQTL information located at the skipped exons. |
| Tissue type | Exon skip ID | SNP id | Location | P-value | FDR |
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Correlation with RNA binding proteins (RBPs) for FUS |
| Correlated RBP and related information. |
| Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
| CB | NUP42 | exon_skip_169000 | 5.775806e-01 | 1.583511e-15 |
| CB | FUBP1 | exon_skip_49230 | -4.220074e-01 | 3.802253e-07 |
| CB | NUP42 | exon_skip_49230 | 4.929701e-01 | 1.438880e-09 |
| CB | CNOT4 | exon_skip_56818 | -4.183971e-01 | 2.189672e-06 |
| CB | FUBP1 | exon_skip_56818 | -4.135315e-01 | 2.947123e-06 |
| CB | NUP42 | exon_skip_56818 | 4.273283e-01 | 1.253839e-06 |
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RelatedDrugs for FUS |
| Approved drugs targeting this gene. (DrugBank Version 5.1.0 2018-04-02) |
| UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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RelatedDiseases for FUS |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
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