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Center for Computational Systems Medicine
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Gene summary

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Gene structures and expression levels

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Exon skipping events with PSIs in TCGA

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Exon skipping events with PSIs in GTEx

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Open reading frame (ORF) annotation in the exon skipping event

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Exon skipping events in the canonical protein sequence

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SNVs in the skipped exons with depth of coverage

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Splicing Quantitative Trait Loci (sQTLs) in the skipped exons

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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon

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Related drugs with this gene

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Related diseases with this gene

Gene summary for FUS

check button Gene summary
Gene informationGene symbol

FUS

Gene ID

2521

Gene nameFUS RNA binding protein
SynonymsALS6|ETM4|FUS1|HNRNPP2|POMP75|TLS
Cytomap

16p11.2

Type of geneprotein-coding
DescriptionRNA-binding protein FUS75 kDa DNA-pairing proteinFUS/ERG chimeric proteinFUS/ERG fusion proteinfus-like proteinfused in sarcomafusion gene in myxoid liposarcomaheterogeneous nuclear ribonucleoprotein P2oncogene FUSoncogene TLStranslocated in lip
Modification date20180527
UniProtAcc

P35637

ContextPubMed: FUS [Title/Abstract] AND exon [Title/Abstract] AND skip [Title/Abstract]
- Title (PMID)

check button Gene ontology of each this gene with evidence of Inferred from Direct Assay (IDA) from Entrez
GeneGO IDGO termPubMed ID

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Exon skipping events across known transcript of Ensembl for FUS from UCSC genome browser

check buttonSkipped exons in TCGA and GTEx 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.
all structure

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Gene isoform structures and expression levels for FUS

check button Expression levels of gene isoforms across TCGA.
gencode gene structure

check button Expression levels of gene isoforms across GTEx.
gencode gene structure


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Exon skipping events with PSIs in TCGA for FUS

check button Information of exkip skipping event in TCGA.
Exon skip IDchrExons involved in exon skippingSkipped exonENSGENSTs
exon_skip_1359921631193718:31193743:31193833:31193985:31195178:3119532331193833:31193985ENSG00000089280.14ENST00000487509.2,ENST00000568685.1,ENST00000254108.7,ENST00000566605.1
exon_skip_1359931631193718:31193743:31193833:31193985:31195181:3119532331193833:31193985ENSG00000089280.14ENST00000380244.3
exon_skip_1360021631195181:31195323:31195529:31195717:31196259:3119650031195529:31195717ENSG00000089280.14ENST00000487509.2,ENST00000380244.3,ENST00000568685.1,ENST00000254108.7,ENST00000566605.1
exon_skip_1360111631195529:31195717:31196259:31196500:31198122:3119815731196259:31196500ENSG00000089280.14ENST00000380244.3,ENST00000568685.1,ENST00000254108.7
exon_skip_1360121631195529:31195717:31196259:31196500:31199645:3119967831196259:31196500ENSG00000089280.14ENST00000566605.1
exon_skip_1360201631196484:31196500:31198122:31198157:31199645:3119967831198122:31198157ENSG00000089280.14ENST00000380244.3,ENST00000568685.1,ENST00000254108.7
exon_skip_1360231631196400:31196500:31199645:31199678:31200443:3120054731199645:31199678ENSG00000089280.14ENST00000566605.1
exon_skip_1360251631199645:31199678:31200440:31200547:31200985:3120101631200440:31200547ENSG00000089280.14ENST00000568685.1
exon_skip_1360291631199645:31199678:31200443:31200547:31200985:3120101631200443:31200547ENSG00000089280.14ENST00000487509.2,ENST00000474990.1,ENST00000380244.3,ENST00000254108.7,ENST00000568901.2,ENST00000566605.1
exon_skip_1360341631200443:31200547:31200985:31201115:31201360:3120144131200985:31201115ENSG00000089280.14ENST00000487509.2,ENST00000474990.1,ENST00000380244.3,ENST00000568685.1,ENST00000254108.7,ENST00000568901.2,ENST00000566605.1
exon_skip_1360371631200985:31201115:31201360:31201462:31201595:3120171931201360:31201462ENSG00000089280.14ENST00000487509.2,ENST00000474990.1,ENST00000380244.3,ENST00000568685.1,ENST00000254108.7,ENST00000566605.1
exon_skip_1360381631201360:31201462:31201595:31201719:31202062:3120216331201595:31201719ENSG00000089280.14ENST00000487509.2,ENST00000474990.1,ENST00000380244.3,ENST00000568685.1,ENST00000254108.7,ENST00000566605.1
exon_skip_1360401631201595:31201719:31202062:31202163:31202283:3120242331202062:31202163ENSG00000089280.14ENST00000487509.2,ENST00000474990.1,ENST00000569760.1,ENST00000380244.3,ENST00000568685.1,ENST00000254108.7,ENST00000566605.1

check button PSI values of skipped exons in TCGA.
psi tcga

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Exon skipping events with PSIs in GTEx for FUS

check button Information of exkip skipping event in GTEx
Exon skip IDchrExons involved in exon skippingSkipped exonENSGENSTs
exon_skip_1359921631193718:31193743:31193833:31193985:31195178:3119532331193833:31193985ENSG00000089280.14ENST00000254108.7,ENST00000566605.1,ENST00000487509.2,ENST00000568685.1
exon_skip_1359931631193718:31193743:31193833:31193985:31195181:3119532331193833:31193985ENSG00000089280.14ENST00000380244.3
exon_skip_1360021631195181:31195323:31195529:31195717:31196259:3119650031195529:31195717ENSG00000089280.14ENST00000254108.7,ENST00000566605.1,ENST00000380244.3,ENST00000487509.2,ENST00000568685.1
exon_skip_1360111631195529:31195717:31196259:31196500:31198122:3119815731196259:31196500ENSG00000089280.14ENST00000254108.7,ENST00000380244.3,ENST00000568685.1
exon_skip_1360121631195529:31195717:31196259:31196500:31199645:3119967831196259:31196500ENSG00000089280.14ENST00000566605.1
exon_skip_1360201631196484:31196500:31198122:31198157:31199645:3119967831198122:31198157ENSG00000089280.14ENST00000254108.7,ENST00000380244.3,ENST00000568685.1
exon_skip_1360231631196400:31196500:31199645:31199678:31200443:3120054731199645:31199678ENSG00000089280.14ENST00000566605.1
exon_skip_1360251631199645:31199678:31200440:31200547:31200985:3120101631200440:31200547ENSG00000089280.14ENST00000568685.1
exon_skip_1360291631199645:31199678:31200443:31200547:31200985:3120101631200443:31200547ENSG00000089280.14ENST00000254108.7,ENST00000566605.1,ENST00000380244.3,ENST00000487509.2,ENST00000474990.1,ENST00000568901.2
exon_skip_1360341631200443:31200547:31200985:31201115:31201360:3120144131200985:31201115ENSG00000089280.14ENST00000254108.7,ENST00000566605.1,ENST00000380244.3,ENST00000487509.2,ENST00000568685.1,ENST00000474990.1,ENST00000568901.2
exon_skip_1360371631200985:31201115:31201360:31201462:31201595:3120171931201360:31201462ENSG00000089280.14ENST00000254108.7,ENST00000566605.1,ENST00000380244.3,ENST00000487509.2,ENST00000568685.1,ENST00000474990.1
exon_skip_1360381631201360:31201462:31201595:31201719:31202062:3120216331201595:31201719ENSG00000089280.14ENST00000254108.7,ENST00000566605.1,ENST00000380244.3,ENST00000487509.2,ENST00000568685.1,ENST00000474990.1
exon_skip_1360401631201595:31201719:31202062:31202163:31202283:3120242331202062:31202163ENSG00000089280.14ENST00000254108.7,ENST00000566605.1,ENST00000380244.3,ENST00000487509.2,ENST00000568685.1,ENST00000474990.1,ENST00000569760.1

check button PSI values of skipped exons in GTEx.
psi gtex

* Skipped exon sequences.

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Open reading frame (ORF) annotation in the exon skipping event for FUS

check button Open reading frame (ORF) of individual exon skipping events in TCGA based on the Ensembl gene structure combined from isoforms.
ENSTStart of skipped exonEnd of skipped exonORF
ENST000002541083119383331193985Frame-shift
ENST000002541083119552931195717Frame-shift
ENST000002541083119625931196500Frame-shift
ENST000002541083119812231198157Frame-shift
ENST000002541083120044331200547Frame-shift
ENST000002541083120098531201115Frame-shift
ENST000002541083120159531201719Frame-shift
ENST000002541083120206231202163Frame-shift
ENST000002541083120136031201462In-frame

check button Open reading frame (ORF) of individual exon skipping events in GTEx based on the Ensembl gene structure combined from isoforms.
ENSTStart of skipped exonEnd of skipped exonORF
ENST000002541083119383331193985Frame-shift
ENST000002541083119552931195717Frame-shift
ENST000002541083119625931196500Frame-shift
ENST000002541083119812231198157Frame-shift
ENST000002541083120044331200547Frame-shift
ENST000002541083120098531201115Frame-shift
ENST000002541083120159531201719Frame-shift
ENST000002541083120206231202163Frame-shift
ENST000002541083120136031201462In-frame

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Infer the effects of exon skipping event on protein functional features for FUS

check button Exon skipping at the protein sequence level and followed lost functional features.
* Click on the image to enlarge it in a new window.
prot feature distribution

check button Loci of skipped exons in TCGA across genomic, transcript, and protein sequence levels of In-frame cases.
ENSTLength of mRNALength of AA seq.Genomic startGenomic endmRNA startmRNA endAA startAA end
ENST000002541082071526312013603120146211721273355389

check button Loci of skipped exons in GTEx across genomic, transcript, and protein sequence levels of In-frame cases.
ENSTLength of mRNALength of AA seq.Genomic startGenomic endmRNA startmRNA endAA startAA end
ENST000002541082071526312013603120146211721273355389

check button Lost protein functional features of individual exon skipping events in TCGA.
UniProt acc.Start of exon skipping (AA)End of exon skipping (AA)Protein feature start (AA)Protein feature end (AA)Category of protein featureDescription of feature
P35637355389358363Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:2LA6
P35637355389365368Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:2LA6
P35637355389379381Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:2LCW
P356373553891526ChainID=PRO_0000081591;Note=RNA-binding protein FUS
P35637355389371526Compositional biasNote=Arg/Gly-rich
P35637355389285371DomainNote=RRM;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00176
P35637355389377377Modified residueNote=Asymmetric dimethylarginine;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:12964758;Dbxref=PMID:12964758
P35637355389383383Modified residueNote=Asymmetric dimethylarginine;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:12964758;Dbxref=PMID:12964758
P35637355389386386Modified residueNote=Asymmetric dimethylarginine;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:12964758;Dbxref=PMID:12964758
P35637355389388388Modified residueNote=Asymmetric dimethylarginine;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:12964758;Dbxref=PMID:12964758


check button Lost protein functional features of individual exon skipping events in GTEx.
UniProt acc.Start of exon skipping (AA)End of exon skipping (AA)Protein feature start (AA)Protein feature end (AA)Category of protein featureDescription of feature
P35637355389358363Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:2LA6
P35637355389365368Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:2LA6
P35637355389379381Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:2LCW
P356373553891526ChainID=PRO_0000081591;Note=RNA-binding protein FUS
P35637355389371526Compositional biasNote=Arg/Gly-rich
P35637355389285371DomainNote=RRM;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00176
P35637355389377377Modified residueNote=Asymmetric dimethylarginine;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:12964758;Dbxref=PMID:12964758
P35637355389383383Modified residueNote=Asymmetric dimethylarginine;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:12964758;Dbxref=PMID:12964758
P35637355389386386Modified residueNote=Asymmetric dimethylarginine;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:12964758;Dbxref=PMID:12964758
P35637355389388388Modified residueNote=Asymmetric dimethylarginine;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:12964758;Dbxref=PMID:12964758


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SNVs in the skipped exons for FUS

check button - Lollipop plot for presenting exon skipping associated SNVs.
* Click on the image to enlarge it in a new window.
lollipop

check button - Differential PSIs between mutated versus non-mutated samples.

check button - Non-synonymous mutations located in the skipped exons in TCGA.
Cancer typeSampleESIDSkipped exon startSkipped exon endMutation startMutation endMutation typeReference seqMutation seqAAchange
LIHCTCGA-DD-A1EG-01exon_skip_135992
exon_skip_135993
31193834311939853119384631193846Frame_Shift_DelC-p.Y17fs
LIHCTCGA-DD-A3A0-01exon_skip_135992
exon_skip_135993
31193834311939853119385631193856Frame_Shift_DelC-p.P21fs
HNSCTCGA-CN-4723-01exon_skip_135992
exon_skip_135993
31193834311939853119396231193962Frame_Shift_DelC-p.S56fs
LIHCTCGA-DD-A39Y-01exon_skip_136002
31195530311957173119557631195576Frame_Shift_DelG-p.G128fs
LIHCTCGA-G3-A3CJ-01exon_skip_136002
31195530311957173119557631195576Frame_Shift_DelG-p.G128fs
COADTCGA-G4-6628-01exon_skip_136002
31195530311957173119564531195645Frame_Shift_DelC-p.N149fs
LIHCTCGA-DD-A3A0-01exon_skip_136002
31195530311957173119564531195645Frame_Shift_DelC-p.P152fs
LIHCTCGA-DD-A39Y-01exon_skip_136025
exon_skip_136029
31200441312005473120048731200487Frame_Shift_DelG-p.L292fs
LIHCTCGA-DD-A39Y-01exon_skip_136025
exon_skip_136029
31200444312005473120048731200487Frame_Shift_DelG-p.L292fs
LIHCTCGA-DD-A39Y-01exon_skip_136037
31201361312014623120139631201396Frame_Shift_DelT-p.F368fs
KIRCTCGA-B8-5553-01exon_skip_136040
31202063312021633120211631202116Frame_Shift_DelC-p.A449fs
COADTCGA-CK-4948-01exon_skip_135992
exon_skip_135993
31193834311939853119386231193862Nonsense_MutationCTp.Q23X
BLCATCGA-DK-A6B6-01exon_skip_136002
31195530311957173119554631195546Nonsense_MutationCTp.Q118*
BLCATCGA-BT-A0YX-01exon_skip_136002
31195530311957173119565131195651Nonsense_MutationCTp.Q153*
BLCATCGA-E7-A7XN-01exon_skip_136002
31195530311957173119565131195651Nonsense_MutationCTp.Q153*
HNSCTCGA-CQ-A4CA-01exon_skip_136002
31195530311957173119565131195651Nonsense_MutationCTp.Q153*
ESCATCGA-R6-A6DN-01exon_skip_136023
31199646311996783119966031199660Nonsense_MutationGTp.G272*
BLCATCGA-DK-A3IU-01exon_skip_136037
31201361312014623120139431201394Nonsense_MutationCAp.S367*
KIRCTCGA-B8-5553-01exon_skip_136040
31202063312021633120211231202112Nonsense_MutationATp.K448X

check button - Depth of coverage in the three exons composing exon skipping event
Depth of coverage in three exonsMutation description

check button - Non-synonymous mutations located in the skipped exons in CCLE.
SampleSkipped exon startSkipped exon endMutation startMutation endMutation typeReference seqMutation seqAAchange
HEC108_ENDOMETRIUM31202063312021633120211531202116Frame_Shift_Ins-Cp.A449fs
HEC108_ENDOMETRIUM31193834311939853119383631193836Missense_MutationAGp.Y14C
REH_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE31195530311957173119556831195568Missense_MutationCAp.P125H
UACC893_BREAST31195530311957173119568831195688Missense_MutationGCp.S165T
CCK81_LARGE_INTESTINE31196260311965003119631331196313Missense_MutationGAp.G193S
HPAC_PANCREAS31196260311965003119641231196412Missense_MutationGAp.G226S
HCC1599_BREAST31200441312005473120054531200545Missense_MutationACp.K312Q
HCC1599_BREAST31200444312005473120054531200545Missense_MutationACp.K312Q
SKPNDW_BONE31200986312011153120102831201028Missense_MutationGCp.D327H
PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE31200986312011153120108831201088Missense_MutationGAp.A347T
CL11_LARGE_INTESTINE31201361312014623120137331201373Missense_MutationCTp.S360F
SARC9371_BONE31201361312014623120140831201408Missense_MutationCTp.R372W
A549_LUNG31201361312014623120144231201442Missense_MutationGAp.R383H
JHUEM1_ENDOMETRIUM31201361312014623120144231201442Missense_MutationGAp.R383H
LU99_LUNG31201361312014623120144231201442Missense_MutationGAp.R383H
SKMEL1_SKIN31201361312014623120144231201442Missense_MutationGAp.R383H
JHU028_LUNG31201361312014623120144231201442Missense_MutationGAp.R383H
HEC59_ENDOMETRIUM31201596312017193120165931201659Missense_MutationCTp.P411L
KYSE220_OESOPHAGUS31201596312017193120171231201712Missense_MutationCTp.P429S
L1236_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE31202063312021633120215831202158Missense_MutationATp.H463L
CCK81_LARGE_INTESTINE31198123311981573119812431198124Splice_SiteGAp.G256R
RH28_SOFT_TISSUE31201596312017193120159731201597Splice_SiteAGp.G390G

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for FUS

check button sQTL information located at the skipped exons.
Exon skip IDChromosomeThree exonsSkippped exonENSTCancer typeSNP idLocationDNA change (ref/var)P-value
exon_skip_1359921631193718:31193743:31193833:31193985:31195178:3119532331193833:31193985ENST00000487509.2,ENST00000568685.1,ENST00000254108.7,ENST00000566605.1LGGrs741810chr16:31193942C/A5.89e-04
exon_skip_1359921631193718:31193743:31193833:31193985:31195178:3119532331193833:31193985ENST00000487509.2,ENST00000568685.1,ENST00000254108.7,ENST00000566605.1OVrs741810chr16:31193942C/A1.28e-03
exon_skip_1359921631193718:31193743:31193833:31193985:31195178:3119532331193833:31193985ENST00000487509.2,ENST00000568685.1,ENST00000254108.7,ENST00000566605.1PRADrs741810chr16:31193942C/A1.62e-03
exon_skip_1359931631193718:31193743:31193833:31193985:31195181:3119532331193833:31193985ENST00000380244.3LGGrs741810chr16:31193942C/A5.89e-04
exon_skip_1359931631193718:31193743:31193833:31193985:31195181:3119532331193833:31193985ENST00000380244.3OVrs741810chr16:31193942C/A1.28e-03
exon_skip_1359931631193718:31193743:31193833:31193985:31195181:3119532331193833:31193985ENST00000380244.3PRADrs741810chr16:31193942C/A1.62e-03

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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for FUS


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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for FUS


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RelatedDrugs for FUS

check button Approved drugs targeting this gene.
(DrugBank Version 5.1.0 2018-04-02)
GeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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RelatedDiseases for FUS

check button Diseases associated with this gene.
(DisGeNet 4.0)
GeneDisease IDDisease name# pubmedsSource
FUSC1842675AMYOTROPHIC LATERAL SCLEROSIS 6 (disorder)6UNIPROT
FUSC0206634Liposarcoma, Myxoid2CTD_human;ORPHANET
FUSC3539195TREMOR, HEREDITARY ESSENTIAL, 41UNIPROT