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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 RPSMAP, MSBB, and Mayo

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

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SNVs in the skipped exons with depth of coverage

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AD stage-associated exon skipping events

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Splicing Quantitative Trait Loci (sQTLs) in the skipped exons

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Correlation with RNA binding proteins (RBPs)

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Related drugs with this gene

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Related diseases with this gene

Gene summary for HSPBP1

check button Gene summary
Gene informationGene symbol

HSPBP1

Gene ID

23640

Gene nameHSPA (Hsp70) binding protein 1
SynonymsFES1
Cytomap

19q13.42

Type of geneprotein-coding
Descriptionhsp70-binding protein 1HSPA (heat shock 70kDa) binding protein, cytoplasmic cochaperone 1heat shock protein-binding protein 1hsp70 interacting protein
Modification date20200313
UniProtAcc

A0A024R4R7,

K7EKM6,

K7EL16,

K7EMM7,

K7EN20,

K7EQQ0,

K7ERT9,

Q9NZL4,

Context

check button Gene ontology of each this gene with evidence of Inferred from Direct Assay (IDA) from Entrez
GeneGO IDGO termPubMed ID
HSPBP1

GO:0031398

positive regulation of protein ubiquitination

16831871

HSPBP1

GO:0032436

positive regulation of proteasomal ubiquitin-dependent protein catabolic process

16831871


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Gene structures and expression levels for HSPBP1

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

ENSG00000133265
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.
Tissue typeDEG directionENSTTranscript info.Base mean exp.log2FC(AD/control)P-valueAdjc. p-value

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

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Exon skipping events with PSIs in ROSMAP, MSBB, and Mayo for HSPBP1

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_101243chr1955266236:55266286:55274398:55274622:55277642:5527770555274398:55274622
exon_skip_105849chr1955274472:55274622:55277642:55277780:55279399:5527970255277642:55277780
exon_skip_162360chr1955274472:55274622:55277642:55277780:55279399:5527970455277642:55277780
exon_skip_166936chr1955265278:55265389:55265886:55265982:55266131:5526616155265886:55265982
exon_skip_173527chr1955265886:55265982:55266131:55266286:55274398:5527462255266131:55266286
exon_skip_180793chr1955274472:55274622:55277642:55277846:55279399:5527970255277642:55277846
exon_skip_260644chr1955279514:55279702:55280035:55280108:55280218:5528033255280035:55280108
exon_skip_44118chr1955265278:55265389:55265886:55265982:55266131:5526628655265886:55265982

check button Differentially expressed PSI values of individual exon skipping events in multiple brain tissues between AD and control.
Exon skipping informationTissue typeAvg(PSIs) in ADAvg(PSIs) in controlDifference (PSI)Adj. p-value


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Open reading frame (ORF) annotation in the exon skipping event for HSPBP1

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
ENST0000025563155280035552801083UTR-3UTR
ENST000002556315526588655265982Frame-shift
ENST000004333865526588655265982Frame-shift
ENST000005879225526588655265982Frame-shift
ENST000002556315527764255277846Frame-shift
ENST000004333865527764255277846Frame-shift
ENST000005879225527764255277846Frame-shift
ENST000002556315526613155266286In-frame
ENST000004333865526613155266286In-frame
ENST000005879225526613155266286In-frame
ENST000002556315527439855274622In-frame
ENST000004333865527439855274622In-frame
ENST000005879225527439855274622In-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
ENST000002556315526588655265982Frame-shift
ENST000004333865526588655265982Frame-shift
ENST000005879225526588655265982Frame-shift

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
ENST0000025563155280035552801083UTR-3UTR
ENST000002556315526588655265982Frame-shift
ENST000004333865526588655265982Frame-shift
ENST000005879225526588655265982Frame-shift
ENST000002556315527764255277846Frame-shift
ENST000004333865527764255277846Frame-shift
ENST000005879225527764255277846Frame-shift
ENST000002556315526613155266286In-frame
ENST000004333865526613155266286In-frame
ENST000005879225526613155266286In-frame

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Infer the effects of exon skipping event on protein functional features for HSPBP1

p-ENSG00000133265_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
ENST0000025563117853595527439855274622727950138213
ENST0000043338615893595527439855274622653876138213
ENST0000058792214663595527439855274622664887138213
ENST00000255631178535955266131552662869521106213265
ENST00000433386158935955266131552662868781032213265
ENST00000587922146635955266131552662868891043213265

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

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
ENST00000255631178535955266131552662869521106213265
ENST00000433386158935955266131552662868781032213265
ENST00000587922146635955266131552662868891043213265

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
Q9NZL4138213204306Alternative sequenceID=VSP_015945;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039
Q9NZL4138213204306Alternative sequenceID=VSP_015945;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039
Q9NZL4138213204306Alternative sequenceID=VSP_015945;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039
Q9NZL41382131359ChainID=PRO_0000084035;Note=Hsp70-binding protein 1
Q9NZL41382131359ChainID=PRO_0000084035;Note=Hsp70-binding protein 1
Q9NZL41382131359ChainID=PRO_0000084035;Note=Hsp70-binding protein 1
Q9NZL4138213134142HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:1XQR
Q9NZL4138213134142HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:1XQR
Q9NZL4138213134142HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:1XQR
Q9NZL4138213145151HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:1XQR
Q9NZL4138213145151HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:1XQR
Q9NZL4138213145151HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:1XQR
Q9NZL4138213159173HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:1XQR
Q9NZL4138213159173HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:1XQR
Q9NZL4138213159173HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:1XQR
Q9NZL4138213177185HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:1XQR
Q9NZL4138213177185HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:1XQR
Q9NZL4138213177185HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:1XQR
Q9NZL4138213188198HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:1XQR
Q9NZL4138213188198HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:1XQR
Q9NZL4138213188198HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:1XQR
Q9NZL4138213202216HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:1XQR
Q9NZL4138213202216HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:1XQR
Q9NZL4138213202216HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:1XQR
Q9NZL4138213132174RepeatNote=ARM 1
Q9NZL4138213132174RepeatNote=ARM 1
Q9NZL4138213132174RepeatNote=ARM 1
Q9NZL4138213177217RepeatNote=ARM 2
Q9NZL4138213177217RepeatNote=ARM 2
Q9NZL4138213177217RepeatNote=ARM 2
Q9NZL4138213152155TurnOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:1XQR
Q9NZL4138213152155TurnOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:1XQR
Q9NZL4138213152155TurnOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:1XQR
Q9NZL4213265204306Alternative sequenceID=VSP_015945;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039
Q9NZL4213265204306Alternative sequenceID=VSP_015945;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039
Q9NZL4213265204306Alternative sequenceID=VSP_015945;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039
Q9NZL42132651359ChainID=PRO_0000084035;Note=Hsp70-binding protein 1
Q9NZL42132651359ChainID=PRO_0000084035;Note=Hsp70-binding protein 1
Q9NZL42132651359ChainID=PRO_0000084035;Note=Hsp70-binding protein 1
Q9NZL4213265202216HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:1XQR
Q9NZL4213265202216HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:1XQR
Q9NZL4213265202216HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:1XQR
Q9NZL4213265220228HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:1XQR
Q9NZL4213265220228HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:1XQR
Q9NZL4213265220228HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:1XQR
Q9NZL4213265231240HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:1XQR
Q9NZL4213265231240HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:1XQR
Q9NZL4213265231240HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:1XQR
Q9NZL4213265244260HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:1XQR
Q9NZL4213265244260HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:1XQR
Q9NZL4213265244260HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:1XQR
Q9NZL4213265262264HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:1XQR
Q9NZL4213265262264HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:1XQR
Q9NZL4213265262264HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:1XQR
Q9NZL4213265265270HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:1XQR
Q9NZL4213265265270HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:1XQR
Q9NZL4213265265270HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:1XQR
Q9NZL4213265177217RepeatNote=ARM 2
Q9NZL4213265177217RepeatNote=ARM 2
Q9NZL4213265177217RepeatNote=ARM 2
Q9NZL4213265220259RepeatNote=ARM 3
Q9NZL4213265220259RepeatNote=ARM 3
Q9NZL4213265220259RepeatNote=ARM 3
Q9NZL4213265262301RepeatNote=ARM 4
Q9NZL4213265262301RepeatNote=ARM 4
Q9NZL4213265262301RepeatNote=ARM 4

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

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
Q9NZL4213265204306Alternative sequenceID=VSP_015945;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039
Q9NZL4213265204306Alternative sequenceID=VSP_015945;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039
Q9NZL4213265204306Alternative sequenceID=VSP_015945;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039
Q9NZL42132651359ChainID=PRO_0000084035;Note=Hsp70-binding protein 1
Q9NZL42132651359ChainID=PRO_0000084035;Note=Hsp70-binding protein 1
Q9NZL42132651359ChainID=PRO_0000084035;Note=Hsp70-binding protein 1
Q9NZL4213265202216HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:1XQR
Q9NZL4213265202216HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:1XQR
Q9NZL4213265202216HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:1XQR
Q9NZL4213265220228HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:1XQR
Q9NZL4213265220228HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:1XQR
Q9NZL4213265220228HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:1XQR
Q9NZL4213265231240HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:1XQR
Q9NZL4213265231240HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:1XQR
Q9NZL4213265231240HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:1XQR
Q9NZL4213265244260HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:1XQR
Q9NZL4213265244260HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:1XQR
Q9NZL4213265244260HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:1XQR
Q9NZL4213265262264HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:1XQR
Q9NZL4213265262264HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:1XQR
Q9NZL4213265262264HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:1XQR
Q9NZL4213265265270HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:1XQR
Q9NZL4213265265270HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:1XQR
Q9NZL4213265265270HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:1XQR
Q9NZL4213265177217RepeatNote=ARM 2
Q9NZL4213265177217RepeatNote=ARM 2
Q9NZL4213265177217RepeatNote=ARM 2
Q9NZL4213265220259RepeatNote=ARM 3
Q9NZL4213265220259RepeatNote=ARM 3
Q9NZL4213265220259RepeatNote=ARM 3
Q9NZL4213265262301RepeatNote=ARM 4
Q9NZL4213265262301RepeatNote=ARM 4
Q9NZL4213265262301RepeatNote=ARM 4


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3'-UTR located exon skipping events that lost miRNA binding sites in HSPBP1

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
MayoENST000002556315528003555280108hsa-miR-4467chr19:55280100-552801078mer-1achr19:55280086-55280107144.00-24.81
MayoENST000002556315528003555280108hsa-miR-10400-5pchr19:55280100-552801078mer-1achr19:55280086-55280107144.00-24.81
MayoENST000002556315528003555280108hsa-miR-764chr19:55280082-552800898mer-1achr19:55280081-55280099151.00-29.23
ROSMAPENST000002556315528003555280108hsa-miR-4467chr19:55280100-552801078mer-1achr19:55280086-55280107144.00-24.81
ROSMAPENST000002556315528003555280108hsa-miR-10400-5pchr19:55280100-552801078mer-1achr19:55280086-55280107144.00-24.81
ROSMAPENST000002556315528003555280108hsa-miR-764chr19:55280082-552800898mer-1achr19:55280081-55280099151.00-29.23

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SNVs in the skipped exons for HSPBP1

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

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AD stage-associated exon skippint events for HSPBP1

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

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for HSPBP1

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

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Correlation with RNA binding proteins (RBPs) for HSPBP1

check button Correlated RBP and related information.
Tissue typeRBP nameExon skip IDCorrelation coeifficientP-value

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RelatedDrugs for HSPBP1

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

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RelatedDiseases for HSPBP1

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