ExonSkipAD Logo

Home

Download

Statistics

Landscape

Help

Contact

Center for Computational Systems Medicine
leaf

Gene summary

leaf

Gene structures and expression levels

leaf

Exon skipping events with PSIs in RPSMAP, MSBB, and Mayo

leaf

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

leaf

Exon skipping events in the canonical protein sequence

leaf

3'-UTR located exon skipping events lost miRNA binding sites

leaf

SNVs in the skipped exons with depth of coverage

leaf

AD stage-associated exon skipping events

leaf

Splicing Quantitative Trait Loci (sQTLs) in the skipped exons

leaf

Correlation with RNA binding proteins (RBPs)

leaf

Related drugs with this gene

leaf

Related diseases with this gene

Gene summary for SH3GLB2

check button Gene summary
Gene informationGene symbol

SH3GLB2

Gene ID

56904

Gene nameSH3 domain containing GRB2 like, endophilin B2
SynonymsPP6569|PP9455|RRIG1
Cytomap

9q34.11

Type of geneprotein-coding
Descriptionendophilin-B2SH3 domain-containing GRB2-like protein B2SH3-containing protein SH3GLB2SH3-domain GRB2-like endophilin B2retinoid receptor-induced gene 1
Modification date20200313
UniProtAcc

A0A024R896,

B7ZC38,

B7ZC39,

F8WFB9,

G5E9J1,

H7C1Z6,

Q9NR46,

Context- 29067327(Zfra restores memory deficits in Alzheimer's disease triple-transgenic mice by blocking aggregation of TRAPPC6ADelta, SH3GLB2, tau, and amyloid beta, and inflammatory NF-kappaB activation)

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

Top

Gene structures and expression levels for SH3GLB2

check buttonSkipped 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.
all structure

ENSG00000148341
check button Differentially expressed gene analysis across multiple brain tissues between AD and control.
Tissue typeDEG directionBase mean exp.log2FC(AD/control)P-valueAdj. p-value

check button Differentially expressed isoform analysis across multiple brain tissues between AD and control.
gencode gene structure
Tissue typeDEG directionENSTTranscript info.Base mean exp.log2FC(AD/control)P-valueAdjc. p-value
CBDOWNENST00000372559.5SH3GLB2-202:protein_coding:SH3GLB22.628266e+01-8.563335e-013.286571e-064.130050e-05
TCDOWNENST00000372559.5SH3GLB2-202:protein_coding:SH3GLB21.627481e+02-8.143457e-017.211328e-073.093113e-05

check button Landscape of isoform expressions across multiple brain tissues between AD and control.
gencode gene structure

Top

Exon skipping events with PSIs in ROSMAP, MSBB, and Mayo for SH3GLB2

check button Landscape of individual exon skipping event across AD tissues and controls (PSI heatmap).
boxplot

check button All exon skipping events in AD cohorts.
Exon skip IDchrExons involved in exon skippingSkipped exon
exon_skip_101733chr9129010670:129010693:129012236:129012298:129014411:129014458129012236:129012298
exon_skip_108504chr9129010120:129010209:129010670:129010693:129012236:129012298129010670:129010693
exon_skip_128016chr9129021091:129021219:129022282:129022423:129028092:129028185129022282:129022423
exon_skip_134270chr9129008684:129008791:129009106:129009346:129009453:129009467129009106:129009346
exon_skip_144639chr9129008722:129008791:129009106:129009346:129009453:129009467129009106:129009346
exon_skip_180968chr9129012236:129012298:129013008:129013019:129014411:129014458129013008:129013019
exon_skip_188753chr9129014892:129014904:129015740:129015860:129021091:129021211129015740:129015860
exon_skip_190689chr9129012236:129012298:129014411:129014503:129014771:129014904129014411:129014503
exon_skip_192014chr9129009283:129009346:129009453:129009467:129009771:129009871129009453:129009467
exon_skip_197127chr9129010120:129010209:129010670:129010693:129014411:129014458129010670:129010693
exon_skip_200518chr9129009227:129009346:129009453:129009467:129009771:129009871129009453:129009467
exon_skip_210710chr9129008717:129008791:129009106:129009346:129009771:129009871129009106:129009346
exon_skip_230715chr9129008717:129008791:129009106:129009346:129009453:129009467129009106:129009346
exon_skip_234357chr9129014771:129014904:129021091:129021219:129022282:129022347129021091:129021219
exon_skip_240727chr9129014892:129014904:129015740:129015864:129021091:129021211129015740:129015864
exon_skip_252319chr9129014771:129014904:129021091:129021219:129022282:129022423129021091:129021219
exon_skip_25316chr9129014771:129014904:129015740:129015864:129021091:129021211129015740:129015864
exon_skip_270724chr9129009249:129009346:129009453:129009467:129009771:129009871129009453:129009467
exon_skip_277765chr9129014771:129014904:129015740:129015860:129021091:129021211129015740:129015860
exon_skip_278068chr9129008722:129008791:129009106:129009346:129009771:129009871129009106:129009346
exon_skip_36235chr9129010670:129010693:129012236:129012298:129013008:129013019129012236:129012298
exon_skip_41235chr9129008684:129008791:129009106:129009346:129009771:129009871129009106:129009346

check button Differentially expressed PSI values of individual exon skipping events in multiple brain tissues between AD and control.
psi tcga
Exon skipping informationTissue typeAvg(PSIs) in ADAvg(PSIs) in controlDifference (PSI)Adj. p-value
exon_skip_200518MSBB_STG5.954545e-017.020833e-01-1.066288e-012.935508e-02
exon_skip_200518MSBB_PG5.242963e-016.900000e-01-1.657037e-018.614187e-05
exon_skip_101733MSBB_PG5.351538e-014.096364e-011.255175e-012.516310e-06
exon_skip_180968MSBB_PG4.663077e-016.423636e-01-1.760559e-011.189072e-04


Top

Open reading frame (ORF) annotation in the exon skipping event for SH3GLB2

check button Open reading frame (ORF) of individual exon skipping events in ROSMAP based on the Ensembl gene structure combined from isoforms.
ENSTStart of skipped exonEnd of skipped exonORF
ENST00000372559129009106129009346Frame-shift
ENST00000372564129009106129009346Frame-shift
ENST00000372559129022282129022423Frame-shift
ENST00000372559129010670129010693In-frame
ENST00000372564129010670129010693In-frame
ENST00000372559129012236129012298In-frame
ENST00000372564129012236129012298In-frame
ENST00000372559129021091129021219In-frame
ENST00000372564129021091129021219In-frame

check button Open reading frame (ORF) of individual exon skipping events in MSBB based on the Ensembl gene structure combined from isoforms.
ENSTStart of skipped exonEnd of skipped exonORF
ENST00000372559129009106129009346Frame-shift
ENST00000372564129009106129009346Frame-shift
ENST00000372559129022282129022423Frame-shift
ENST00000372559129010670129010693In-frame
ENST00000372564129010670129010693In-frame
ENST00000372559129012236129012298In-frame
ENST00000372564129012236129012298In-frame

check button Open reading frame (ORF) of individual exon skipping events in Mayo based on the Ensembl gene structure combined from isoforms.
ENSTStart of skipped exonEnd of skipped exonORF
ENST00000372559129009106129009346Frame-shift
ENST00000372564129009106129009346Frame-shift
ENST00000372559129022282129022423Frame-shift
ENST00000372559129010670129010693In-frame
ENST00000372564129010670129010693In-frame
ENST00000372559129012236129012298In-frame
ENST00000372564129012236129012298In-frame
ENST00000372559129014411129014503In-frame
ENST00000372564129014411129014503In-frame
ENST00000372559129021091129021219In-frame
ENST00000372564129021091129021219In-frame

Top

Infer the effects of exon skipping event on protein functional features for SH3GLB2

p-ENSG00000148341_img4.png
boxplot

check button Loci of skipped exons in ROSMAP across genomic, transcript, and protein sequence levels of In-frame cases.
ENSTLength of mRNALength of AA seq.Genomic startGenomic endmRNA startmRNA endAA startAA end
ENST00000372559138239512902109112902121926639368111
ENST00000372564299939512902109112902121935247968111
ENST000003725591382395129012236129012298622683187207
ENST000003725642999395129012236129012298708769187207

check button Loci of skipped exons in MSBB across genomic, transcript, and protein sequence levels of In-frame cases.
ENSTLength of mRNALength of AA seq.Genomic startGenomic endmRNA startmRNA endAA startAA end
ENST000003725591382395129012236129012298622683187207
ENST000003725642999395129012236129012298708769187207

check button Loci of skipped exons in Mayo across genomic, transcript, and protein sequence levels of In-frame cases.
ENSTLength of mRNALength of AA seq.Genomic startGenomic endmRNA startmRNA endAA startAA end
ENST00000372559138239512902109112902121926639368111
ENST00000372564299939512902109112902121935247968111
ENST000003725591382395129014411129014503529620156186
ENST000003725642999395129014411129014503615706156186
ENST000003725591382395129012236129012298622683187207
ENST000003725642999395129012236129012298708769187207

check button 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 featureDescription of feature
Q9NR46681111395ChainID=PRO_0000146755;Note=Endophilin-B2
Q9NR46681111395ChainID=PRO_0000146755;Note=Endophilin-B2
Q9NR466811124287DomainNote=BAR;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00361
Q9NR466811124287DomainNote=BAR;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00361
Q9NR46187207187187Alternative sequenceID=VSP_009278;Note=In isoform 2. T->TCEGD;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:11347906;Dbxref=PMID:11347906
Q9NR46187207187187Alternative sequenceID=VSP_009278;Note=In isoform 2. T->TCEGD;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:11347906;Dbxref=PMID:11347906
Q9NR461872071395ChainID=PRO_0000146755;Note=Endophilin-B2
Q9NR461872071395ChainID=PRO_0000146755;Note=Endophilin-B2
Q9NR46187207206240Coiled coilOntology_term=ECO:0000255;evidence=ECO:0000255
Q9NR46187207206240Coiled coilOntology_term=ECO:0000255;evidence=ECO:0000255
Q9NR4618720724287DomainNote=BAR;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00361
Q9NR4618720724287DomainNote=BAR;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00361

check button 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 featureDescription of feature
Q9NR46187207187187Alternative sequenceID=VSP_009278;Note=In isoform 2. T->TCEGD;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:11347906;Dbxref=PMID:11347906
Q9NR46187207187187Alternative sequenceID=VSP_009278;Note=In isoform 2. T->TCEGD;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:11347906;Dbxref=PMID:11347906
Q9NR461872071395ChainID=PRO_0000146755;Note=Endophilin-B2
Q9NR461872071395ChainID=PRO_0000146755;Note=Endophilin-B2
Q9NR46187207206240Coiled coilOntology_term=ECO:0000255;evidence=ECO:0000255
Q9NR46187207206240Coiled coilOntology_term=ECO:0000255;evidence=ECO:0000255
Q9NR4618720724287DomainNote=BAR;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00361
Q9NR4618720724287DomainNote=BAR;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00361

check button 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 featureDescription of feature
Q9NR46681111395ChainID=PRO_0000146755;Note=Endophilin-B2
Q9NR46681111395ChainID=PRO_0000146755;Note=Endophilin-B2
Q9NR466811124287DomainNote=BAR;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00361
Q9NR466811124287DomainNote=BAR;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00361
Q9NR461561861395ChainID=PRO_0000146755;Note=Endophilin-B2
Q9NR461561861395ChainID=PRO_0000146755;Note=Endophilin-B2
Q9NR4615618624287DomainNote=BAR;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00361
Q9NR4615618624287DomainNote=BAR;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00361
Q9NR46187207187187Alternative sequenceID=VSP_009278;Note=In isoform 2. T->TCEGD;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:11347906;Dbxref=PMID:11347906
Q9NR46187207187187Alternative sequenceID=VSP_009278;Note=In isoform 2. T->TCEGD;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:11347906;Dbxref=PMID:11347906
Q9NR461872071395ChainID=PRO_0000146755;Note=Endophilin-B2
Q9NR461872071395ChainID=PRO_0000146755;Note=Endophilin-B2
Q9NR46187207206240Coiled coilOntology_term=ECO:0000255;evidence=ECO:0000255
Q9NR46187207206240Coiled coilOntology_term=ECO:0000255;evidence=ECO:0000255
Q9NR4618720724287DomainNote=BAR;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00361
Q9NR4618720724287DomainNote=BAR;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00361


Top

3'-UTR located exon skipping events that lost miRNA binding sites in SH3GLB2

check button 3'-UTR exon skipping evnets lost miRNA binding.
Tissue typeENSTExon skip startExon skip endmicroRNABinding site by TargetScanBinding type by TargetScanBdinding site by miRandaScore of miRandaEnergy by miRanda

Top

SNVs in the skipped exons for SH3GLB2

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

check button - Depth of Coverage in the skipped exon of the mutated samples.

check button - Sashimi plot in the skipped exon of the mutated samples.

check button - Non-synonymous mutations located in the skipped exons.
Cancer typeSampleESIDSkipped exon startSkipped exon endMutation startMutation endMutation typeReference seqMutation seqAAchange

check button - Non-synonymous mutations located in the skipped exons in CCLE.
SampleSkipped exon startSkipped exon endMutation startMutation endMutation typeReference seqMutation seqAAchange

Top

AD stage-associated exon skippint events for SH3GLB2

check button Associated exon skipping events with Braak staging or Clinical Dementia Rating (CDR).
AD stage infoCohortTissueSE idCoefficient P-valueChromosomeStrandE1 startE1 endSkipped startSkipped endE2 startE2 end
CDRMSBBSTGexon_skip_180968-3.103546e-012.464985e-03chr9-129012236129012298129013008129013019129014411129014458

Top

Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for SH3GLB2

check button sQTL information located at the skipped exons.
Tissue typeExon skip IDSNP idLocationP-valueFDR

Top

Correlation with RNA binding proteins (RBPs) for SH3GLB2

check button Correlated RBP and related information.
Tissue typeRBP nameExon skip IDCorrelation coeifficientP-value
CBRALYLexon_skip_2005185.631472e-011.102240e-14
CBHNRNPDLexon_skip_101733-4.038633e-011.299183e-07
CBHNRNPDexon_skip_101733-4.226725e-012.857011e-08
CBSRSF9exon_skip_101733-4.368277e-018.584098e-09
CBSAMD4Aexon_skip_146804-4.496055e-013.102153e-09
CBRBM3exon_skip_1468045.636998e-011.244932e-14
CBPCBP4exon_skip_1468044.762218e-012.542608e-10
CBHNRNPA2B1exon_skip_146804-4.004901e-011.847905e-07
CBNUP42exon_skip_1468044.868094e-018.841594e-11
CBFUSexon_skip_1468045.682483e-016.841833e-15
CBRBM4Bexon_skip_146804-4.044518e-011.360781e-07
CBRBM3exon_skip_1809685.952791e-011.282723e-16
CBSRSF9exon_skip_1809684.694991e-014.296703e-10
CBHNRNPH2exon_skip_1809684.160165e-014.935105e-08
DLPFCCNOT4exon_skip_1920145.745101e-017.887597e-23
DLPFCRC3H1exon_skip_1920145.066022e-012.597761e-17
DLPFCRALYLexon_skip_1920147.005706e-012.488179e-37
FLRALYLexon_skip_2005184.822862e-016.268023e-13
FLILF2exon_skip_1809684.170829e-019.803431e-10
FLHNRNPH2exon_skip_1809684.979369e-018.401307e-14
HCCRBM6exon_skip_200518-6.424397e-013.569739e-33
HCCRALYLexon_skip_2005184.095513e-011.823164e-12
HCCMSI1exon_skip_1017334.780469e-015.397474e-17
HCCRBM6exon_skip_1017335.172529e-014.410331e-20
HCCTRNAU1APexon_skip_1017334.131446e-011.116311e-12
HCCZC3H10exon_skip_1017334.522050e-013.641377e-15
HCCRBM4Bexon_skip_1017334.331242e-016.544537e-14
HCCRBM5exon_skip_180968-5.594287e-016.996954e-24
HCCHNRNPFexon_skip_180968-4.999694e-011.134123e-18
IFGIGF2BP2exon_skip_412354.423434e-011.842292e-02
IFGRALYLexon_skip_41235-4.140367e-012.849847e-02
IFGRALYLexon_skip_2005187.087675e-012.429397e-05
IFGEIF4G2exon_skip_101733-4.892427e-018.237611e-03
IFGSRSF9exon_skip_101733-4.244006e-012.438955e-02
IFGRBM41exon_skip_101733-4.516177e-011.584553e-02
PCCRALYLexon_skip_210710-4.095081e-014.221337e-10
PCCRBM6exon_skip_200518-4.692816e-013.578039e-13
PCCRALYLexon_skip_2005185.566546e-016.819994e-19
PCCRBM6exon_skip_1017334.336646e-012.856119e-11
PCCRBM3exon_skip_824014.118874e-013.594799e-10
PCCHNRNPFexon_skip_180968-5.460343e-014.170401e-18
PGRALYLexon_skip_2005186.664550e-015.075733e-26
PGILF2exon_skip_1809685.012130e-013.690334e-13
PGRBM24exon_skip_1809686.138291e-011.540159e-20
PGHNRNPH2exon_skip_1809686.012035e-011.454292e-19
STGCNOT4exon_skip_41235-4.488877e-011.846285e-05
STGHNRNPKexon_skip_41235-4.435240e-012.384655e-05
STGHNRNPLexon_skip_41235-4.035374e-011.410824e-04
STGSRSF1exon_skip_41235-4.388400e-012.971349e-05
STGSRSF9exon_skip_41235-4.170608e-017.927759e-05
STGRALYLexon_skip_2005185.924042e-017.722962e-10
STGMSI1exon_skip_1017334.281503e-012.300058e-05
STGRBM24exon_skip_1809684.473941e-016.920294e-06
STGHNRNPH2exon_skip_1809685.689128e-012.687616e-09
TCRALYLexon_skip_278068-5.513643e-014.173305e-14
TCRALYLexon_skip_2707248.018917e-013.582498e-37
TCRBM24exon_skip_1809688.029824e-012.426427e-37
TCHNRNPH2exon_skip_1809685.974766e-017.424470e-17

Top

RelatedDrugs for SH3GLB2

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

Top

RelatedDiseases for SH3GLB2

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