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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 SSB

check button Gene summary
Gene informationGene symbol

SSB

Gene ID

6741

Gene nameSjogren syndrome antigen B
SynonymsLARP3|La|La/SSB
Cytomap

2q31.1

Type of geneprotein-coding
Descriptionlupus La proteinLa ribonucleoprotein domain family, member 3SS-BSS-B/La proteinautoantigen Lala autoantigenlupus La antigensjoegren syndrome type B antigen
Modification date20180522
UniProtAcc

P05455

ContextPubMed: SSB [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
SSB

GO:0075522

IRES-dependent viral translational initiation

12384597

SSB

GO:1903608

protein localization to cytoplasmic stress granule

24965446


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Exon skipping events across known transcript of Ensembl for SSB 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 SSB

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 SSB

check button Information of exkip skipping event in TCGA.
Exon skip IDchrExons involved in exon skippingSkipped exonENSGENSTs
exon_skip_3309232170655389:170655486:170657461:170657536:170661983:170662087170657461:170657536ENSG00000138385.11ENST00000461708.1,ENST00000413002.1,ENST00000260956.4
exon_skip_3309272170655389:170655486:170661983:170662087:170662174:170662349170661983:170662087ENSG00000138385.11ENST00000417292.1
exon_skip_3309292170657461:170657536:170661983:170662087:170662174:170662325170661983:170662087ENSG00000138385.11ENST00000422006.1,ENST00000461708.1,ENST00000413002.1,ENST00000260956.4,ENST00000409333.1
exon_skip_3309332170662174:170662349:170662507:170662623:170663294:170663400170662507:170662623ENSG00000138385.11ENST00000413002.1
exon_skip_3309352170663480:170663581:170664991:170665063:170665369:170665412170664991:170665063ENSG00000138385.11ENST00000474273.1,ENST00000260956.4,ENST00000409333.1
exon_skip_3309372170665369:170665412:170666792:170666933:170667367:170667398170666792:170666933ENSG00000138385.11ENST00000490914.1,ENST00000260956.4,ENST00000409333.1
exon_skip_3309382170666792:170666933:170667367:170667554:170667692:170667833170667367:170667554ENSG00000138385.11ENST00000260956.4,ENST00000409333.1
exon_skip_3309402170667367:170667554:170667692:170667833:170668177:170668574170667692:170667833ENSG00000138385.11ENST00000260956.4,ENST00000409333.1

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

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Exon skipping events with PSIs in GTEx for SSB

check button Information of exkip skipping event in GTEx
Exon skip IDchrExons involved in exon skippingSkipped exonENSGENSTs
exon_skip_3309232170655389:170655486:170657461:170657536:170661983:170662087170657461:170657536ENSG00000138385.11ENST00000260956.4,ENST00000413002.1,ENST00000461708.1
exon_skip_3309272170655389:170655486:170661983:170662087:170662174:170662349170661983:170662087ENSG00000138385.11ENST00000417292.1
exon_skip_3309292170657461:170657536:170661983:170662087:170662174:170662325170661983:170662087ENSG00000138385.11ENST00000422006.1,ENST00000260956.4,ENST00000413002.1,ENST00000461708.1,ENST00000409333.1
exon_skip_3309332170662174:170662349:170662507:170662623:170663294:170663400170662507:170662623ENSG00000138385.11ENST00000413002.1
exon_skip_3309352170663480:170663581:170664991:170665063:170665369:170665412170664991:170665063ENSG00000138385.11ENST00000260956.4,ENST00000409333.1,ENST00000474273.1
exon_skip_3309372170665369:170665412:170666792:170666933:170667367:170667398170666792:170666933ENSG00000138385.11ENST00000260956.4,ENST00000409333.1,ENST00000490914.1
exon_skip_3309382170666792:170666933:170667367:170667554:170667692:170667833170667367:170667554ENSG00000138385.11ENST00000260956.4,ENST00000409333.1
exon_skip_3309402170667367:170667554:170667692:170667833:170668177:170668574170667692:170667833ENSG00000138385.11ENST00000260956.4,ENST00000409333.1

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 SSB

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
ENST000002609561706574611706575365CDS-5UTR
ENST00000260956170661983170662087Frame-shift
ENST00000409333170661983170662087Frame-shift
ENST00000260956170667367170667554Frame-shift
ENST00000409333170667367170667554Frame-shift
ENST00000260956170664991170665063In-frame
ENST00000409333170664991170665063In-frame
ENST00000260956170666792170666933In-frame
ENST00000409333170666792170666933In-frame
ENST00000260956170667692170667833In-frame
ENST00000409333170667692170667833In-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
ENST000002609561706574611706575365CDS-5UTR
ENST00000260956170661983170662087Frame-shift
ENST00000409333170661983170662087Frame-shift
ENST00000260956170667367170667554Frame-shift
ENST00000409333170667367170667554Frame-shift
ENST00000260956170664991170665063In-frame
ENST00000409333170664991170665063In-frame
ENST00000260956170666792170666933In-frame
ENST00000409333170666792170666933In-frame
ENST00000260956170667692170667833In-frame
ENST00000409333170667692170667833In-frame

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

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
ENST000002609561726408170666792170666933844984223270
ENST0000040933317994081706667921706669339171057223270
ENST00000260956172640817066769217066783311721312332379
ENST00000409333179940817066769217066783312451385332379

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
ENST000002609561726408170666792170666933844984223270
ENST0000040933317994081706667921706669339171057223270
ENST00000260956172640817066769217066783311721312332379
ENST00000409333179940817066769217066783312451385332379

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
P05455223270233239Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:1OWX
P05455223270233239Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:1OWX
P05455223270259263Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:1OWX
P05455223270259263Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:1OWX
P05455223270269277Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:1OWX
P05455223270269277Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:1OWX
P054552232701408ChainID=PRO_0000207599;Note=Lupus La protein
P054552232701408ChainID=PRO_0000207599;Note=Lupus La protein
P05455223270246252HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:1OWX
P05455223270246252HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:1OWX
P05455223270225225Modified residueNote=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163
P05455223270225225Modified residueNote=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163
P054553323791408ChainID=PRO_0000207599;Note=Lupus La protein
P054553323791408ChainID=PRO_0000207599;Note=Lupus La protein
P05455332379341341Modified residueNote=N6-acetyllysine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P32067
P05455332379341341Modified residueNote=N6-acetyllysine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P32067
P05455332379360360Modified residueNote=N6-acetyllysine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:19608861;Dbxref=PMID:19608861
P05455332379360360Modified residueNote=N6-acetyllysine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:19608861;Dbxref=PMID:19608861
P05455332379362362Modified residueNote=Phosphothreonine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:24275569;Dbxref=PMID:24275569
P05455332379362362Modified residueNote=Phosphothreonine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:24275569;Dbxref=PMID:24275569
P05455332379366366Modified residueNote=Phosphoserine%3B by CK2;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000269;evidence=ECO:0000244|PubMed:17081983,ECO:0000244|PubMed:18318008,ECO:0000244|PubMed:18669648,ECO:0000244
P05455332379366366Modified residueNote=Phosphoserine%3B by CK2;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000269;evidence=ECO:0000244|PubMed:17081983,ECO:0000244|PubMed:18318008,ECO:0000244|PubMed:18669648,ECO:0000244


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
P05455223270233239Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:1OWX
P05455223270233239Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:1OWX
P05455223270259263Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:1OWX
P05455223270259263Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:1OWX
P05455223270269277Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:1OWX
P05455223270269277Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:1OWX
P054552232701408ChainID=PRO_0000207599;Note=Lupus La protein
P054552232701408ChainID=PRO_0000207599;Note=Lupus La protein
P05455223270246252HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:1OWX
P05455223270246252HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:1OWX
P05455223270225225Modified residueNote=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163
P05455223270225225Modified residueNote=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163
P054553323791408ChainID=PRO_0000207599;Note=Lupus La protein
P054553323791408ChainID=PRO_0000207599;Note=Lupus La protein
P05455332379341341Modified residueNote=N6-acetyllysine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P32067
P05455332379341341Modified residueNote=N6-acetyllysine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P32067
P05455332379360360Modified residueNote=N6-acetyllysine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:19608861;Dbxref=PMID:19608861
P05455332379360360Modified residueNote=N6-acetyllysine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:19608861;Dbxref=PMID:19608861
P05455332379362362Modified residueNote=Phosphothreonine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:24275569;Dbxref=PMID:24275569
P05455332379362362Modified residueNote=Phosphothreonine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:24275569;Dbxref=PMID:24275569
P05455332379366366Modified residueNote=Phosphoserine%3B by CK2;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000269;evidence=ECO:0000244|PubMed:17081983,ECO:0000244|PubMed:18318008,ECO:0000244|PubMed:18669648,ECO:0000244
P05455332379366366Modified residueNote=Phosphoserine%3B by CK2;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000269;evidence=ECO:0000244|PubMed:17081983,ECO:0000244|PubMed:18318008,ECO:0000244|PubMed:18669648,ECO:0000244


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SNVs in the skipped exons for SSB

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
HNSCTCGA-CR-6493-01exon_skip_330935
170664992170665063170665008170665008Frame_Shift_DelA-p.K191fs
HNSCTCGA-CR-6493-01exon_skip_330935
170664992170665063170665008170665008Frame_Shift_DelA-p.K192fs
PCPGTCGA-RW-A686-06exon_skip_330935
170664992170665063170665008170665008Frame_Shift_DelA-p.K192fs
STADTCGA-B7-A5TI-01exon_skip_330935
170664992170665063170665008170665008Frame_Shift_DelA-p.K192fs
LIHCTCGA-DD-A3A0-01exon_skip_330938
170667368170667554170667387170667387Frame_Shift_DelA-p.E277fs
LIHCTCGA-DD-A1EG-01exon_skip_330938
170667368170667554170667489170667489Frame_Shift_DelA-p.E311fs
LIHCTCGA-DD-A39Y-01exon_skip_330938
170667368170667554170667489170667489Frame_Shift_DelA-p.E311fs
PRADTCGA-HC-7080-01exon_skip_330938
170667368170667554170667531170667531Frame_Shift_DelC-p.S325fs
LIHCTCGA-DD-A39Y-01exon_skip_330940
170667693170667833170667776170667776Frame_Shift_DelA-p.K361fs
LUADTCGA-95-7567-01exon_skip_330935
170664992170665063170665007170665008Frame_Shift_Ins-Ap.A190fs
LUADTCGA-95-7567-01exon_skip_330935
170664992170665063170665007170665008Frame_Shift_Ins-Ap.AK190fs
BLCATCGA-DK-A6AW-01exon_skip_330937
170666793170666933170666805170666805Nonsense_MutationGTp.E228*

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
TGBC11TKB_STOMACH170664992170665063170665007170665008Frame_Shift_Ins-Ap.K191fs
HPBALL_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE170666793170666933170666838170666838Missense_MutationGAp.D239N
SKMEL2_SKIN170666793170666933170666907170666907Missense_MutationATp.I262L
SNU1040_LARGE_INTESTINE170666793170666933170666916170666916Missense_MutationGAp.V265I
OC316_OVARY170667368170667554170667397170667397Missense_MutationGTp.K280N
OC314_OVARY170667368170667554170667397170667397Missense_MutationGTp.K280N
EN_ENDOMETRIUM170667368170667554170667534170667534Missense_MutationTCp.L326P
SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE170667693170667833170667731170667731Missense_MutationGAp.A346T
BC3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE170667693170667833170667744170667744Missense_MutationCTp.S350F
KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE170667693170667833170667788170667788Missense_MutationGAp.A365T
HS939T_SKIN170667693170667833170667807170667807Missense_MutationAGp.D371G

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

check button sQTL information located at the skipped exons.
Exon skip IDChromosomeThree exonsSkippped exonENSTCancer typeSNP idLocationDNA change (ref/var)P-value

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


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


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RelatedDrugs for SSB

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 SSB

check button Diseases associated with this gene.
(DisGeNet 4.0)
GeneDisease IDDisease name# pubmedsSource