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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 HSPD1

check button Gene summary
Gene informationGene symbol

HSPD1

Gene ID

3329

Gene nameheat shock protein family D (Hsp60) member 1
SynonymsCPN60|GROEL|HLD4|HSP-60|HSP60|HSP65|HuCHA60|SPG13
Cytomap

2q33.1

Type of geneprotein-coding
Description60 kDa heat shock protein, mitochondrial60 kDa chaperoninP60 lymphocyte proteinchaperonin 60heat shock 60kDa protein 1 (chaperonin)heat shock protein 65mitochondrial matrix protein P1short heat shock protein 60 Hsp60s1
Modification date20180523
UniProtAcc

P10809

ContextPubMed: HSPD1 [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
HSPD1

GO:0002368

B cell cytokine production

16148103

HSPD1

GO:0002755

MyD88-dependent toll-like receptor signaling pathway

16148103

HSPD1

GO:0002842

positive regulation of T cell mediated immune response to tumor cell

10663613

HSPD1

GO:0006919

activation of cysteine-type endopeptidase activity involved in apoptotic process

17823127

HSPD1

GO:0006986

response to unfolded protein

11050098

HSPD1

GO:0032727

positive regulation of interferon-alpha production

17164250

HSPD1

GO:0032729

positive regulation of interferon-gamma production

17164250

HSPD1

GO:0032733

positive regulation of interleukin-10 production

16148103

HSPD1

GO:0032735

positive regulation of interleukin-12 production

17164250

HSPD1

GO:0032755

positive regulation of interleukin-6 production

16148103

HSPD1

GO:0042026

protein refolding

11050098

HSPD1

GO:0042100

B cell proliferation

16148103

HSPD1

GO:0042110

T cell activation

15371451|17164250|18256040

HSPD1

GO:0042113

B cell activation

16148103

HSPD1

GO:0043032

positive regulation of macrophage activation

17164250

HSPD1

GO:0044406

adhesion of symbiont to host

20633027

HSPD1

GO:0048291

isotype switching to IgG isotypes

16148103

HSPD1

GO:0050870

positive regulation of T cell activation

16148103|17164250


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Exon skipping events across known transcript of Ensembl for HSPD1 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 HSPD1

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 HSPD1

check button Information of exkip skipping event in TCGA.
Exon skip IDchrExons involved in exon skippingSkipped exonENSGENSTs
exon_skip_3458152198351309:198351922:198352581:198352760:198353040:198353215198352581:198352760ENSG00000144381.12ENST00000388968.3,ENST00000345042.2
exon_skip_3458222198353856:198353971:198354920:198355020:198358047:198358216198354920:198355020ENSG00000144381.12ENST00000388968.3,ENST00000345042.2
exon_skip_3458332198358917:198358974:198359380:198359476:198360017:198360100198359380:198359476ENSG00000144381.12ENST00000486181.1,ENST00000388968.3,ENST00000452200.1,ENST00000345042.2
exon_skip_3458342198358871:198358974:198359386:198359476:198360017:198360100198359386:198359476ENSG00000144381.12ENST00000430176.1
exon_skip_3458362198359386:198359476:198360017:198360100:198361863:198362116198360017:198360100ENSG00000144381.12ENST00000486181.1,ENST00000388968.3,ENST00000452200.1,ENST00000345042.2,ENST00000430176.1,ENST00000440114.1
exon_skip_3458392198362040:198362116:198363398:198363574:198364505:198364541198363398:198363574ENSG00000144381.12ENST00000461097.1,ENST00000476746.1
exon_skip_3458402198361863:198362116:198363445:198363574:198364505:198364541198363445:198363574ENSG00000144381.12ENST00000440114.1
exon_skip_3458412198363445:198363574:198363865:198364162:198364505:198364541198363865:198364162ENSG00000144381.12ENST00000418022.1
exon_skip_3458422198363398:198363574:198363890:198364162:198364505:198364541198363890:198364162ENSG00000144381.12ENST00000439605.1
exon_skip_3458452198363445:198363574:198363982:198364162:198364505:198364541198363982:198364162ENSG00000144381.12ENST00000428204.1

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

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Exon skipping events with PSIs in GTEx for HSPD1

check button Information of exkip skipping event in GTEx
Exon skip IDchrExons involved in exon skippingSkipped exonENSGENSTs
exon_skip_3458152198351309:198351922:198352581:198352760:198353040:198353215198352581:198352760ENSG00000144381.12ENST00000388968.3,ENST00000345042.2
exon_skip_3458222198353856:198353971:198354920:198355020:198358047:198358216198354920:198355020ENSG00000144381.12ENST00000388968.3,ENST00000345042.2
exon_skip_3458332198358917:198358974:198359380:198359476:198360017:198360100198359380:198359476ENSG00000144381.12ENST00000388968.3,ENST00000345042.2,ENST00000486181.1,ENST00000452200.1
exon_skip_3458342198358871:198358974:198359386:198359476:198360017:198360100198359386:198359476ENSG00000144381.12ENST00000430176.1
exon_skip_3458362198359386:198359476:198360017:198360100:198361863:198362116198360017:198360100ENSG00000144381.12ENST00000388968.3,ENST00000345042.2,ENST00000430176.1,ENST00000486181.1,ENST00000452200.1,ENST00000440114.1
exon_skip_3458392198362040:198362116:198363398:198363574:198364505:198364541198363398:198363574ENSG00000144381.12ENST00000476746.1,ENST00000461097.1
exon_skip_3458402198361863:198362116:198363445:198363574:198364505:198364541198363445:198363574ENSG00000144381.12ENST00000440114.1
exon_skip_3458412198363445:198363574:198363865:198364162:198364505:198364541198363865:198364162ENSG00000144381.12ENST00000418022.1
exon_skip_3458422198363398:198363574:198363890:198364162:198364505:198364541198363890:198364162ENSG00000144381.12ENST00000439605.1
exon_skip_3458452198363445:198363574:198363982:198364162:198364505:198364541198363982:198364162ENSG00000144381.12ENST00000428204.1

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 HSPD1

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
ENST00000345042198352581198352760Frame-shift
ENST00000388968198352581198352760Frame-shift
ENST00000345042198354920198355020Frame-shift
ENST00000388968198354920198355020Frame-shift
ENST00000345042198360017198360100Frame-shift
ENST00000388968198360017198360100Frame-shift
ENST00000345042198359380198359476In-frame
ENST00000388968198359380198359476In-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
ENST00000345042198352581198352760Frame-shift
ENST00000388968198352581198352760Frame-shift
ENST00000345042198354920198355020Frame-shift
ENST00000388968198354920198355020Frame-shift
ENST00000345042198360017198360100Frame-shift
ENST00000388968198360017198360100Frame-shift
ENST00000345042198359380198359476In-frame
ENST00000388968198359380198359476In-frame

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Infer the effects of exon skipping event on protein functional features for HSPD1

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
ENST000003450422316573198359380198359476628723170202
ENST000003889682472573198359380198359476779874170202

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
ENST000003450422316573198359380198359476628723170202
ENST000003889682472573198359380198359476779874170202

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
P10809170202159573Alternative sequenceID=VSP_056145;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039
P10809170202159573Alternative sequenceID=VSP_056145;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039
P10809170202197203Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:4PJ1
P10809170202197203Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:4PJ1
P1080917020227573ChainID=PRO_0000005026;Note=60 kDa heat shock protein%2C mitochondrial
P1080917020227573ChainID=PRO_0000005026;Note=60 kDa heat shock protein%2C mitochondrial
P10809170202165175HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:4PJ1
P10809170202165175HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:4PJ1
P10809170202180193HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:4PJ1
P10809170202180193HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:4PJ1
P10809170202191191Modified residueNote=N6-acetyllysine%3B alternate;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P63038
P10809170202191191Modified residueNote=N6-acetyllysine%3B alternate;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P63038
P10809170202191191Modified residueNote=N6-succinyllysine%3B alternate;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P63038
P10809170202191191Modified residueNote=N6-succinyllysine%3B alternate;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P63038
P10809170202202202Modified residueNote=N6-acetyllysine%3B alternate;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:19608861;Dbxref=PMID:19608861
P10809170202202202Modified residueNote=N6-acetyllysine%3B alternate;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:19608861;Dbxref=PMID:19608861
P10809170202202202Modified residueNote=N6-succinyllysine%3B alternate;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P63038
P10809170202202202Modified residueNote=N6-succinyllysine%3B alternate;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P63038
P10809170202177177Sequence conflictNote=N->S;Ontology_term=ECO:0000305;evidence=ECO:0000305
P10809170202177177Sequence conflictNote=N->S;Ontology_term=ECO:0000305;evidence=ECO:0000305
P10809170202202202Sequence conflictNote=K->KAS;Ontology_term=ECO:0000305;evidence=ECO:0000305
P10809170202202202Sequence conflictNote=K->KAS;Ontology_term=ECO:0000305;evidence=ECO:0000305
P10809170202176178TurnOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:4PJ1
P10809170202176178TurnOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:4PJ1


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
P10809170202159573Alternative sequenceID=VSP_056145;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039
P10809170202159573Alternative sequenceID=VSP_056145;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039
P10809170202197203Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:4PJ1
P10809170202197203Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:4PJ1
P1080917020227573ChainID=PRO_0000005026;Note=60 kDa heat shock protein%2C mitochondrial
P1080917020227573ChainID=PRO_0000005026;Note=60 kDa heat shock protein%2C mitochondrial
P10809170202165175HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:4PJ1
P10809170202165175HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:4PJ1
P10809170202180193HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:4PJ1
P10809170202180193HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:4PJ1
P10809170202191191Modified residueNote=N6-acetyllysine%3B alternate;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P63038
P10809170202191191Modified residueNote=N6-acetyllysine%3B alternate;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P63038
P10809170202191191Modified residueNote=N6-succinyllysine%3B alternate;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P63038
P10809170202191191Modified residueNote=N6-succinyllysine%3B alternate;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P63038
P10809170202202202Modified residueNote=N6-acetyllysine%3B alternate;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:19608861;Dbxref=PMID:19608861
P10809170202202202Modified residueNote=N6-acetyllysine%3B alternate;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:19608861;Dbxref=PMID:19608861
P10809170202202202Modified residueNote=N6-succinyllysine%3B alternate;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P63038
P10809170202202202Modified residueNote=N6-succinyllysine%3B alternate;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P63038
P10809170202177177Sequence conflictNote=N->S;Ontology_term=ECO:0000305;evidence=ECO:0000305
P10809170202177177Sequence conflictNote=N->S;Ontology_term=ECO:0000305;evidence=ECO:0000305
P10809170202202202Sequence conflictNote=K->KAS;Ontology_term=ECO:0000305;evidence=ECO:0000305
P10809170202202202Sequence conflictNote=K->KAS;Ontology_term=ECO:0000305;evidence=ECO:0000305
P10809170202176178TurnOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:4PJ1
P10809170202176178TurnOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:4PJ1


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SNVs in the skipped exons for HSPD1

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.
HSPD1_LGG_exon_skip_345839_psi_boxplot.png
boxplot
HSPD1_PAAD_exon_skip_345839_psi_boxplot.png
boxplot
HSPD1_SKCM_exon_skip_345839_psi_boxplot.png
boxplot
HSPD1_THCA_exon_skip_345839_psi_boxplot.png
boxplot

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_345815
198352582198352760198352603198352603Frame_Shift_DelT-p.K516fs
LIHCTCGA-DD-A39Y-01exon_skip_345815
198352582198352760198352603198352603Frame_Shift_DelT-p.K516fs
LIHCTCGA-DD-A3A0-01exon_skip_345836
198360018198360100198360058198360058Frame_Shift_DelT-p.K157fs
LIHCTCGA-G3-A3CJ-01exon_skip_345836
198360018198360100198360058198360058Frame_Shift_DelT-p.K157fs
UCSTCGA-ND-A4WC-01exon_skip_345833
exon_skip_345834
198359381198359476198359410198359411Frame_Shift_Ins-Tp.NW192fs
UCSTCGA-ND-A4WC-01exon_skip_345833
exon_skip_345834
198359381198359476198359410198359411Frame_Shift_Ins-Tp.V193fs
UCSTCGA-ND-A4WC-01exon_skip_345833
exon_skip_345834
198359387198359476198359410198359411Frame_Shift_Ins-Tp.NW192fs
UCSTCGA-ND-A4WC-01exon_skip_345833
exon_skip_345834
198359387198359476198359410198359411Frame_Shift_Ins-Tp.V193fs
BRCATCGA-E2-A1IH-01exon_skip_345839
198363399198363574198363536198363537Frame_Shift_Ins-Tp.P12fs
BRCATCGA-E2-A1IH-01exon_skip_345840
198363446198363574198363536198363537Frame_Shift_Ins-Tp.P12fs
UCECTCGA-B5-A11N-01exon_skip_345833
exon_skip_345834
198359381198359476198359446198359446Nonsense_MutationCAp.E181*
UCECTCGA-B5-A11N-01exon_skip_345833
exon_skip_345834
198359387198359476198359446198359446Nonsense_MutationCAp.E181*
LGGTCGA-HT-7480-01exon_skip_345839
198363399198363574198363397198363397Splice_SiteAC.
LGGTCGA-HT-8109-01exon_skip_345839
198363399198363574198363397198363397Splice_SiteAC.
PAADTCGA-FB-A78T-01exon_skip_345839
198363399198363574198363397198363397Splice_SiteAC.
PAADTCGA-HZ-8005-01exon_skip_345839
198363399198363574198363397198363397Splice_SiteAC.
PAADTCGA-HZ-A8P0-01exon_skip_345839
198363399198363574198363397198363397Splice_SiteAC.
PAADTCGA-IB-7891-01exon_skip_345839
198363399198363574198363397198363397Splice_SiteAC.
PAADTCGA-IB-A5SO-01exon_skip_345839
198363399198363574198363397198363397Splice_SiteAC.
PAADTCGA-Q3-AA2A-01exon_skip_345839
198363399198363574198363397198363397Splice_SiteAC.
PRADTCGA-J4-A67R-01exon_skip_345839
198363399198363574198363397198363397Splice_SiteAC.
SKCMTCGA-D3-A2JN-06exon_skip_345839
198363399198363574198363397198363397Splice_SiteAC.
SKCMTCGA-ER-A194-01exon_skip_345839
198363399198363574198363397198363397Splice_SiteAC.
THCATCGA-EM-A3O3-01exon_skip_345839
198363399198363574198363397198363397Splice_SiteAC.

check button - Depth of coverage in the three exons composing exon skipping event
Depth of coverage in three exonsMutation description
HSPD1_198362040_198362116_198363398_198363574_198364505_198364541_TCGA-HT-8109-01Sample: TCGA-HT-8109-01
Cancer type: LGG
ESID: exon_skip_345839
Skipped exon start: 198363399
Skipped exon end: 198363574
Mutation start: 198363397
Mutation end: 198363397
Mutation type: Splice_Site
Reference seq: A
Mutation seq: C
AAchange: .
exon_skip_345839_LGG_TCGA-HT-8109-01.png
boxplot
HSPD1_198362040_198362116_198363398_198363574_198364505_198364541_TCGA-HT-7480-01Sample: TCGA-HT-7480-01
Cancer type: LGG
ESID: exon_skip_345839
Skipped exon start: 198363399
Skipped exon end: 198363574
Mutation start: 198363397
Mutation end: 198363397
Mutation type: Splice_Site
Reference seq: A
Mutation seq: C
AAchange: .
exon_skip_307696_LGG_TCGA-HT-7480-01.png
boxplot
exon_skip_307697_LGG_TCGA-HT-7480-01.png
boxplot
exon_skip_345839_LGG_TCGA-HT-7480-01.png
boxplot
HSPD1_198362040_198362116_198363398_198363574_198364505_198364541_TCGA-Q3-AA2A-01Sample: TCGA-Q3-AA2A-01
Cancer type: PAAD
ESID: exon_skip_345839
Skipped exon start: 198363399
Skipped exon end: 198363574
Mutation start: 198363397
Mutation end: 198363397
Mutation type: Splice_Site
Reference seq: A
Mutation seq: C
AAchange: .
exon_skip_345839_PAAD_TCGA-Q3-AA2A-01.png
boxplot
HSPD1_198362040_198362116_198363398_198363574_198364505_198364541_TCGA-HZ-8005-01Sample: TCGA-HZ-8005-01
Cancer type: PAAD
ESID: exon_skip_345839
Skipped exon start: 198363399
Skipped exon end: 198363574
Mutation start: 198363397
Mutation end: 198363397
Mutation type: Splice_Site
Reference seq: A
Mutation seq: C
AAchange: .
exon_skip_345839_PAAD_TCGA-HZ-8005-01.png
boxplot
HSPD1_198362040_198362116_198363398_198363574_198364505_198364541_TCGA-HZ-A8P0-01Sample: TCGA-HZ-A8P0-01
Cancer type: PAAD
ESID: exon_skip_345839
Skipped exon start: 198363399
Skipped exon end: 198363574
Mutation start: 198363397
Mutation end: 198363397
Mutation type: Splice_Site
Reference seq: A
Mutation seq: C
AAchange: .
exon_skip_345839_PAAD_TCGA-HZ-A8P0-01.png
boxplot
exon_skip_433436_PAAD_TCGA-HZ-A8P0-01.png
boxplot
HSPD1_198362040_198362116_198363398_198363574_198364505_198364541_TCGA-IB-A5SO-01Sample: TCGA-IB-A5SO-01
Cancer type: PAAD
ESID: exon_skip_345839
Skipped exon start: 198363399
Skipped exon end: 198363574
Mutation start: 198363397
Mutation end: 198363397
Mutation type: Splice_Site
Reference seq: A
Mutation seq: C
AAchange: .
exon_skip_345839_PAAD_TCGA-IB-A5SO-01.png
boxplot
HSPD1_198362040_198362116_198363398_198363574_198364505_198364541_TCGA-FB-A78T-01Sample: TCGA-FB-A78T-01
Cancer type: PAAD
ESID: exon_skip_345839
Skipped exon start: 198363399
Skipped exon end: 198363574
Mutation start: 198363397
Mutation end: 198363397
Mutation type: Splice_Site
Reference seq: A
Mutation seq: C
AAchange: .
exon_skip_345839_PAAD_TCGA-FB-A78T-01.png
boxplot
HSPD1_198362040_198362116_198363398_198363574_198364505_198364541_TCGA-D3-A2JN-06Sample: TCGA-D3-A2JN-06
Cancer type: SKCM
ESID: exon_skip_345839
Skipped exon start: 198363399
Skipped exon end: 198363574
Mutation start: 198363397
Mutation end: 198363397
Mutation type: Splice_Site
Reference seq: A
Mutation seq: C
AAchange: .
exon_skip_345839_SKCM_TCGA-D3-A2JN-06.png
boxplot
HSPD1_198362040_198362116_198363398_198363574_198364505_198364541_TCGA-EM-A3O3-01Sample: TCGA-EM-A3O3-01
Cancer type: THCA
ESID: exon_skip_345839
Skipped exon start: 198363399
Skipped exon end: 198363574
Mutation start: 198363397
Mutation end: 198363397
Mutation type: Splice_Site
Reference seq: A
Mutation seq: C
AAchange: .
exon_skip_345839_THCA_TCGA-EM-A3O3-01.png
boxplot

check button - Non-synonymous mutations located in the skipped exons in CCLE.
SampleSkipped exon startSkipped exon endMutation startMutation endMutation typeReference seqMutation seqAAchange
DMS79_LUNG198354921198355020198354932198354932Missense_MutationTAp.T320S
GP5D_LARGE_INTESTINE198354921198355020198354941198354941Missense_MutationCTp.A317T
SF268_CENTRAL_NERVOUS_SYSTEM198360018198360100198360052198360052Missense_MutationGAp.S159F
ESO26_OESOPHAGUS198360018198360100198360083198360083Missense_MutationCGp.D149H
NCIH1048_LUNG198363399198363574198363418198363418Missense_MutationGAp.A52V
JURKAT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE198363399198363574198363424198363424Missense_MutationGAp.A50V
HCC2998_LARGE_INTESTINE198363446198363574198363478198363478Missense_MutationACp.F32C
HCC2998_LARGE_INTESTINE198363399198363574198363478198363478Missense_MutationACp.F32C
RCCER_KIDNEY198363446198363574198363557198363557Missense_MutationTGp.T6P
RCCER_KIDNEY198363399198363574198363557198363557Missense_MutationTGp.T6P

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for HSPD1

check button sQTL information located at the skipped exons.
Exon skip IDChromosomeThree exonsSkippped exonENSTCancer typeSNP idLocationDNA change (ref/var)P-value
exon_skip_3458402198361863:198362116:198363445:198363574:198364505:198364541198363445:198363574ENST00000440114.1BRCArs1050347chr2:198363504A/G2.84e-03
exon_skip_3458392198362040:198362116:198363398:198363574:198364505:198364541198363398:198363574ENST00000461097.1,ENST00000476746.1BRCArs1050347chr2:198363504A/G2.84e-03

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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for HSPD1


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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for HSPD1


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RelatedDrugs for HSPD1

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 HSPD1

check button Diseases associated with this gene.
(DisGeNet 4.0)
GeneDisease IDDisease name# pubmedsSource
HSPD1C0038356Stomach Neoplasms2CTD_human
HSPD1C1854467Spastic paraplegia 13, autosomal dominant2CTD_human;ORPHANET;UNIPROT
HSPD1C0001418Adenocarcinoma1CTD_human
HSPD1C0007134Renal Cell Carcinoma1CTD_human
HSPD1C0007194Hypertrophic Cardiomyopathy1CTD_human
HSPD1C0019693HIV Infections1CTD_human
HSPD1C0376618Endotoxemia1CTD_human
HSPD1C0740392Infarction, Middle Cerebral Artery1CTD_human
HSPD1C0878544Cardiomyopathies1CTD_human
HSPD1C0948089Acute Coronary Syndrome1CTD_human
HSPD1C2677109Leukodystrophy, Hypomyelinating, 41CTD_human;ORPHANET;UNIPROT