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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 QPCT

check button Gene summary
Gene informationGene symbol

QPCT

Gene ID

25797

Gene nameglutaminyl-peptide cyclotransferase
SynonymsGCT|QC|sQC
Cytomap

2p22.2

Type of geneprotein-coding
Descriptionglutaminyl-peptide cyclotransferaseECglutaminyl cyclaseglutaminyl-tRNA cyclotransferaseglutamyl cyclase
Modification date20180523
UniProtAcc

Q16769

ContextPubMed: QPCT [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
QPCT

GO:0017186

peptidyl-pyroglutamic acid biosynthetic process, using glutaminyl-peptide cyclotransferase

21288892


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Exon skipping events across known transcript of Ensembl for QPCT 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 QPCT

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 QPCT

check button Information of exkip skipping event in TCGA.
Exon skip IDchrExons involved in exon skippingSkipped exonENSGENSTs
exon_skip_324963237571870:37571994:37586722:37587001:37594374:3759455137586722:37587001ENSG00000115828.11ENST00000537448.1,ENST00000404976.1
exon_skip_324965237579931:37580078:37585963:37586031:37586722:3758700137585963:37586031ENSG00000115828.11ENST00000470075.1
exon_skip_324967237579931:37580078:37586722:37587001:37594374:3759455137586722:37587001ENSG00000115828.11ENST00000338415.3
exon_skip_324971237586722:37587001:37594374:37594551:37596827:3759684537594374:37594551ENSG00000115828.11ENST00000537448.1,ENST00000404976.1,ENST00000338415.3,ENST00000480050.1
exon_skip_324974237596827:37596927:37599498:37599615:37599824:3759988537599498:37599615ENSG00000115828.11ENST00000469098.1,ENST00000537448.1,ENST00000404976.1,ENST00000338415.3,ENST00000444022.1

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

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Exon skipping events with PSIs in GTEx for QPCT

check button Information of exkip skipping event in GTEx
Exon skip IDchrExons involved in exon skippingSkipped exonENSGENSTs
exon_skip_324963237571870:37571994:37586722:37587001:37594374:3759455137586722:37587001ENSG00000115828.11ENST00000404976.1,ENST00000537448.1
exon_skip_324965237579931:37580078:37585963:37586031:37586722:3758700137585963:37586031ENSG00000115828.11ENST00000470075.1
exon_skip_324967237579931:37580078:37586722:37587001:37594374:3759455137586722:37587001ENSG00000115828.11ENST00000338415.3
exon_skip_324971237586722:37587001:37594374:37594551:37596827:3759684537594374:37594551ENSG00000115828.11ENST00000338415.3,ENST00000404976.1,ENST00000537448.1,ENST00000480050.1
exon_skip_324974237596827:37596927:37599498:37599615:37599824:3759988537599498:37599615ENSG00000115828.11ENST00000338415.3,ENST00000404976.1,ENST00000537448.1,ENST00000469098.1,ENST00000444022.1

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 QPCT

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
ENST000003384153758672237587001In-frame
ENST000003384153759437437594551In-frame
ENST000003384153759949837599615In-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
ENST000003384153758672237587001In-frame
ENST000003384153759437437594551In-frame
ENST000003384153759949837599615In-frame

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

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
ENST000003384151756361375867223758700142670489182
ENST0000033841517563613759437437594551705881182241
ENST00000338415175636137599498375996159821098274313

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
ENST000003384151756361375867223758700142670489182
ENST0000033841517563613759437437594551705881182241
ENST00000338415175636137599498375996159821098274313

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
Q16769891824189Alternative sequenceID=VSP_038487;Note=In isoform 2. Missing;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q167698918298100Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:2AFW
Q1676989182103111Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:2AFW
Q1676989182116128Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:2AFW
Q1676989182131140Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:2AFW
Q167698918229361ChainID=PRO_0000022195;Note=Glutaminyl-peptide cyclotransferase
Q1676989182139164Disulfide bondOntology_term=ECO:0000269;evidence=ECO:0000269|PubMed:21671571;Dbxref=PMID:21671571
Q16769891828296HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:2AFW
Q1676989182149151HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3PBB
Q1676989182161173HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:2AFW
Q1676989182175179HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:2AFW
Q1676989182180182HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:4YWY
Q1676989182159159Metal bindingNote=Zinc%3B catalytic
Q1676989182144144MutagenesisNote=Lowers activity by approximately 40%25. K->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16135565;Dbxref=PMID:16135565
Q1676989182146146MutagenesisNote=Lowers activity by approximately 30%25. F->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16135565;Dbxref=PMID:16135565
Q1676989182160160MutagenesisNote=Reduces activity by about 50%25. S->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:18072935;Dbxref=PMID:18072935
Q1676989182160160MutagenesisNote=Reduces activity by 96%25. S->G;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:18072935;Dbxref=PMID:18072935
Q1676989182157160TurnOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:2AFW
Q16769182241201201Active siteNote=Proton acceptor;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:18072935;Dbxref=PMID:18072935
Q16769182241191199Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:2AFW
Q16769182241204206Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:2AFW
Q16769182241209212Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:2AFW
Q16769182241226229Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:2AFW
Q16769182241241247Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:2AFW
Q1676918224129361ChainID=PRO_0000022195;Note=Glutaminyl-peptide cyclotransferase
Q16769182241180182HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:4YWY
Q16769182241214224HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:2AFW
Q16769182241202202Metal bindingNote=Zinc%3B catalytic
Q16769182241201201MutagenesisNote=Reduces activity by about 98%25. E->D;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:16135565,ECO:0000269|PubMed:18072935;Dbxref=PMID:16135565,PMID:18072935
Q16769182241201201MutagenesisNote=Abolishes activity. E->L%2CQ;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:16135565,ECO:0000269|PubMed:18072935;Dbxref=PMID:16135565,PMID:18072935
Q16769182241207207MutagenesisNote=Greatly lowers activity. W->L;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16135565;Dbxref=PMID:16135565
Q16769182241237240TurnOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:2AFW
Q16769274313284286Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:2AFW
Q16769274313293295Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3PBB
Q1676927431329361ChainID=PRO_0000022195;Note=Glutaminyl-peptide cyclotransferase
Q16769274313296296GlycosylationNote=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q16769274313265280HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:2AFW
Q16769274313308311HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:2AFW
Q16769274313304304MutagenesisNote=Lowers activity by approximately 35%25. Q->L;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16135565;Dbxref=PMID:16135565
Q16769274313305305MutagenesisNote=Abolishes activity. D->A%2CE%2CL;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:16135565,ECO:0000269|PubMed:18072935;Dbxref=PMID:16135565,PMID:18072935
Q16769274313305305MutagenesisNote=Reduces activity by 99%25. D->N;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:16135565,ECO:0000269|PubMed:18072935;Dbxref=PMID:16135565,PMID:18072935
Q16769274313312314TurnOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:2AFW


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
Q16769891824189Alternative sequenceID=VSP_038487;Note=In isoform 2. Missing;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q167698918298100Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:2AFW
Q1676989182103111Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:2AFW
Q1676989182116128Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:2AFW
Q1676989182131140Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:2AFW
Q167698918229361ChainID=PRO_0000022195;Note=Glutaminyl-peptide cyclotransferase
Q1676989182139164Disulfide bondOntology_term=ECO:0000269;evidence=ECO:0000269|PubMed:21671571;Dbxref=PMID:21671571
Q16769891828296HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:2AFW
Q1676989182149151HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3PBB
Q1676989182161173HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:2AFW
Q1676989182175179HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:2AFW
Q1676989182180182HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:4YWY
Q1676989182159159Metal bindingNote=Zinc%3B catalytic
Q1676989182144144MutagenesisNote=Lowers activity by approximately 40%25. K->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16135565;Dbxref=PMID:16135565
Q1676989182146146MutagenesisNote=Lowers activity by approximately 30%25. F->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16135565;Dbxref=PMID:16135565
Q1676989182160160MutagenesisNote=Reduces activity by about 50%25. S->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:18072935;Dbxref=PMID:18072935
Q1676989182160160MutagenesisNote=Reduces activity by 96%25. S->G;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:18072935;Dbxref=PMID:18072935
Q1676989182157160TurnOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:2AFW
Q16769182241201201Active siteNote=Proton acceptor;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:18072935;Dbxref=PMID:18072935
Q16769182241191199Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:2AFW
Q16769182241204206Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:2AFW
Q16769182241209212Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:2AFW
Q16769182241226229Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:2AFW
Q16769182241241247Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:2AFW
Q1676918224129361ChainID=PRO_0000022195;Note=Glutaminyl-peptide cyclotransferase
Q16769182241180182HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:4YWY
Q16769182241214224HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:2AFW
Q16769182241202202Metal bindingNote=Zinc%3B catalytic
Q16769182241201201MutagenesisNote=Reduces activity by about 98%25. E->D;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:16135565,ECO:0000269|PubMed:18072935;Dbxref=PMID:16135565,PMID:18072935
Q16769182241201201MutagenesisNote=Abolishes activity. E->L%2CQ;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:16135565,ECO:0000269|PubMed:18072935;Dbxref=PMID:16135565,PMID:18072935
Q16769182241207207MutagenesisNote=Greatly lowers activity. W->L;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16135565;Dbxref=PMID:16135565
Q16769182241237240TurnOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:2AFW
Q16769274313284286Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:2AFW
Q16769274313293295Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3PBB
Q1676927431329361ChainID=PRO_0000022195;Note=Glutaminyl-peptide cyclotransferase
Q16769274313296296GlycosylationNote=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q16769274313265280HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:2AFW
Q16769274313308311HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:2AFW
Q16769274313304304MutagenesisNote=Lowers activity by approximately 35%25. Q->L;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16135565;Dbxref=PMID:16135565
Q16769274313305305MutagenesisNote=Abolishes activity. D->A%2CE%2CL;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:16135565,ECO:0000269|PubMed:18072935;Dbxref=PMID:16135565,PMID:18072935
Q16769274313305305MutagenesisNote=Reduces activity by 99%25. D->N;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:16135565,ECO:0000269|PubMed:18072935;Dbxref=PMID:16135565,PMID:18072935
Q16769274313312314TurnOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:2AFW


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SNVs in the skipped exons for QPCT

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-G3-A3CJ-01exon_skip_324971
37594375375945513759442037594420Frame_Shift_DelT-p.F198fs
ESCATCGA-Z6-A9VB-01exon_skip_324971
37594375375945513759450537594505Frame_Shift_DelC-p.P227fs
LIHCTCGA-DD-A39Y-01exon_skip_324974
37599499375996153759960337599603Frame_Shift_DelT-p.F310fs
LIHCTCGA-BC-A112-01exon_skip_324963
exon_skip_324967
37586723375870013758686237586863Frame_Shift_Ins-Cp.A136fs
BRCATCGA-A2-A0T2-01exon_skip_324963
exon_skip_324967
37586723375870013758696537586966Frame_Shift_Ins-Gp.A170fs
BLCATCGA-KQ-A41O-01exon_skip_324963
exon_skip_324967
37586723375870013758681737586817Nonsense_MutationCGp.S121*
UCECTCGA-B5-A0JV-01exon_skip_324971
37594375375945513759444937594449Nonsense_MutationGAp.W207*

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
A204_SOFT_TISSUE37586723375870013758672937586729Missense_MutationAGp.M92V
TTC642_SOFT_TISSUE37586723375870013758672937586729Missense_MutationAGp.M92V
HEC1A_ENDOMETRIUM37586723375870013758686837586868Missense_MutationCTp.A138V
NUGC3_STOMACH37586723375870013758691037586910Missense_MutationGTp.R152I
CMLT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE37586723375870013758693937586939Missense_MutationGAp.V162M
BL41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE37586723375870013758695637586956Missense_MutationGTp.M167I
NCIH2452_PLEURA37586723375870013758696637586966Missense_MutationGCp.A171P
EFO27_OVARY37586723375870013758697037586970Missense_MutationGAp.R172H
SQ1_LUNG37594375375945513759444637594446Missense_MutationCAp.H206Q
DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE37594375375945513759446037594460Missense_MutationAGp.D211G
MDAMB361_BREAST37599499375996153759953137599531Missense_MutationGAp.D286N
SNU1040_LARGE_INTESTINE37599499375996153759954937599549Missense_MutationCTp.R292W
SUPB8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE37599499375996153759959337599593Missense_MutationCAp.D306E
MDAMB361_BREAST37586723375870013758681737586817Nonsense_MutationCGp.S121*
P31FUJ_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE37594375375945513759447737594477Nonsense_MutationCTp.R217*
MFE319_ENDOMETRIUM37586723375870013758700137587001Splice_SiteGAp.K182K

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

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 QPCT


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


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RelatedDrugs for QPCT

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 QPCT

check button Diseases associated with this gene.
(DisGeNet 4.0)
GeneDisease IDDisease name# pubmedsSource
QPCTC0023434Chronic Lymphocytic Leukemia1CTD_human
QPCTC0025202melanoma1CTD_human
QPCTC0162820Dermatitis, Allergic Contact1CTD_human