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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 KIAA1522

check button Gene summary
Gene informationGene symbol

KIAA1522

Gene ID

57648

Gene nameKIAA1522
Synonyms-
Cytomap

1p35.1

Type of geneprotein-coding
Descriptionuncharacterized protein KIAA1522
Modification date20180523
UniProtAcc

Q9P206

ContextPubMed: KIAA1522 [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

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Exon skipping events across known transcript of Ensembl for KIAA1522 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 KIAA1522

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 KIAA1522

check button Information of exkip skipping event in TCGA.
Exon skip IDchrExons involved in exon skippingSkipped exonENSGENSTs
exon_skip_3995133233387:33233558:33233662:33233718:33234252:3323437633233662:33233718ENSG00000162522.6ENST00000468130.1,ENST00000294521.3,ENST00000373481.3,ENST00000401073.2,ENST00000373480.1
exon_skip_4009133233662:33233718:33234252:33234376:33238465:3323879833234252:33234376ENSG00000162522.6ENST00000294521.3
exon_skip_4013133234252:33234376:33235273:33235387:33235480:3323571133235273:33235387ENSG00000162522.6ENST00000373481.3,ENST00000401073.2,ENST00000373480.1
exon_skip_4028133235273:33235387:33235480:33238042:33238465:3323879833235480:33238042ENSG00000162522.6ENST00000373481.3,ENST00000401073.2,ENST00000373480.1

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

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Exon skipping events with PSIs in GTEx for KIAA1522

check button Information of exkip skipping event in GTEx
Exon skip IDchrExons involved in exon skippingSkipped exonENSGENSTs
exon_skip_3995133233387:33233558:33233662:33233718:33234252:3323437633233662:33233718ENSG00000162522.6ENST00000401073.2,ENST00000468130.1,ENST00000373481.3,ENST00000294521.3,ENST00000373480.1
exon_skip_4013133234252:33234376:33235273:33235387:33235480:3323571133235273:33235387ENSG00000162522.6ENST00000401073.2,ENST00000373481.3,ENST00000373480.1
exon_skip_4028133235273:33235387:33235480:33238042:33238465:3323879833235480:33238042ENSG00000162522.6ENST00000401073.2,ENST00000373481.3,ENST00000373480.1

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 KIAA1522

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
ENST000003734803323366233233718Frame-shift
ENST000003734803323527333235387In-frame
ENST000003734803323548033238042In-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
ENST000003734803323366233233718Frame-shift
ENST000003734803323527333235387In-frame
ENST000003734803323548033238042In-frame

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Infer the effects of exon skipping event on protein functional features for KIAA1522

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
ENST00000373480531110353323527333235387513626136174
ENST0000037348053111035332354803323804262731881741028

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
ENST00000373480531110353323527333235387513626136174
ENST0000037348053111035332354803323804262731881741028

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
Q9P2061361741371028Alternative sequenceID=VSP_043215;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039
Q9P20613617411035ChainID=PRO_0000311246;Note=Uncharacterized protein KIAA1522
Q9P206136174154160Compositional biasNote=Poly-Arg
Q9P206136174138138Modified residueNote=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163
Q9P206136174145145Modified residueNote=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:20068231,ECO:0000244|PubMed:23186163;Dbxref=PMID:20068231,PMID:23186163
Q9P206136174161161Modified residueNote=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163
Q9P206136174162162Modified residueNote=Phosphothreonine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163
Q9P20617410281371028Alternative sequenceID=VSP_043215;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039
Q9P206174102811035ChainID=PRO_0000311246;Note=Uncharacterized protein KIAA1522
Q9P2061741028319431Compositional biasNote=Ser-rich
Q9P2061741028438997Compositional biasNote=Pro-rich
Q9P2061741028215215Modified residueNote=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:18669648,ECO:0000244|PubMed:19690332;Dbxref=PMID:18669648,PMID:19690332
Q9P2061741028320320Modified residueNote=Asymmetric dimethylarginine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:A2A7S8
Q9P2061741028322322Modified residueNote=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163
Q9P2061741028327327Modified residueNote=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163
Q9P2061741028330330Modified residueNote=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:A2A7S8
Q9P2061741028338338Modified residueNote=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163
Q9P2061741028339339Modified residueNote=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:16964243,ECO:0000244|PubMed:23186163;Dbxref=PMID:16964243,PMID:23186163
Q9P2061741028341341Modified residueNote=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163
Q9P2061741028342342Modified residueNote=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:16964243,ECO:0000244|PubMed:20068231,ECO:0000244|PubMed:23186163;Dbxref=PMID:16964243,PMID:20068231,PMID:23186163
Q9P2061741028400400Modified residueNote=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:24275569;Dbxref=PMID:24275569
Q9P2061741028404404Modified residueNote=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:A2A7S8
Q9P2061741028409409Modified residueNote=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:A2A7S8
Q9P2061741028531531Modified residueNote=Phosphothreonine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:A2A7S8
Q9P2061741028545545Modified residueNote=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:16964243,ECO:0000244|PubMed:20068231,ECO:0000244|PubMed:21406692,ECO:0000244|PubMed:23186163;Dbxref=PMID:16964243,PMID:20068231,PMID:21406692,PMID
Q9P2061741028593593Modified residueNote=Phosphothreonine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:18669648;Dbxref=PMID:18669648
Q9P2061741028612612Modified residueNote=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:A2A7S8
Q9P2061741028669669Modified residueNote=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:18669648,ECO:0000244|PubMed:21406692,ECO:0000244|PubMed:23186163,ECO:0000244|PubMed:24275569;Dbxref=PMID:18669648,PMID:21406692,PMID:23186163,PMID
Q9P2061741028673673Modified residueNote=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:18669648,ECO:0000244|PubMed:23186163,ECO:0000244|PubMed:24275569;Dbxref=PMID:18669648,PMID:23186163,PMID:24275569
Q9P2061741028858858Modified residueNote=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:18669648,ECO:0000244|PubMed:20068231,ECO:0000244|PubMed:23186163;Dbxref=PMID:18669648,PMID:20068231,PMID:23186163
Q9P2061741028862862Modified residueNote=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:18669648,ECO:0000244|PubMed:20068231,ECO:0000244|PubMed:23186163;Dbxref=PMID:18669648,PMID:20068231,PMID:23186163
Q9P2061741028868868Modified residueNote=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:20068231;Dbxref=PMID:20068231
Q9P2061741028929929Modified residueNote=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:18220336,ECO:0000244|PubMed:18669648,ECO:0000244|PubMed:20068231,ECO:0000244|PubMed:23186163;Dbxref=PMID:18220336,PMID:18669648,PMID:20068231,PMID
Q9P2061741028959959Modified residueNote=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163
Q9P2061741028971971Modified residueNote=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:18669648,ECO:0000244|PubMed:21406692,ECO:0000244|PubMed:23186163;Dbxref=PMID:18669648,PMID:21406692,PMID:23186163
Q9P2061741028979979Modified residueNote=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:18669648,ECO:0000244|PubMed:20068231,ECO:0000244|PubMed:21406692,ECO:0000244|PubMed:23186163;Dbxref=PMID:18669648,PMID:20068231,PMID:21406692,PMID
Q9P2061741028232232Natural variantID=VAR_037192;Note=M->V;Dbxref=dbSNP:rs12730560
Q9P2061741028310310Natural variantID=VAR_037193;Note=L->I;Dbxref=dbSNP:rs11582639
Q9P2061741028770770Natural variantID=VAR_037194;Note=P->L;Dbxref=dbSNP:rs581875
Q9P206174102810211021Natural variantID=VAR_037195;Note=E->K;Dbxref=dbSNP:rs675928


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
Q9P2061361741371028Alternative sequenceID=VSP_043215;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039
Q9P20613617411035ChainID=PRO_0000311246;Note=Uncharacterized protein KIAA1522
Q9P206136174154160Compositional biasNote=Poly-Arg
Q9P206136174138138Modified residueNote=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163
Q9P206136174145145Modified residueNote=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:20068231,ECO:0000244|PubMed:23186163;Dbxref=PMID:20068231,PMID:23186163
Q9P206136174161161Modified residueNote=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163
Q9P206136174162162Modified residueNote=Phosphothreonine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163
Q9P20617410281371028Alternative sequenceID=VSP_043215;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039
Q9P206174102811035ChainID=PRO_0000311246;Note=Uncharacterized protein KIAA1522
Q9P2061741028319431Compositional biasNote=Ser-rich
Q9P2061741028438997Compositional biasNote=Pro-rich
Q9P2061741028215215Modified residueNote=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:18669648,ECO:0000244|PubMed:19690332;Dbxref=PMID:18669648,PMID:19690332
Q9P2061741028320320Modified residueNote=Asymmetric dimethylarginine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:A2A7S8
Q9P2061741028322322Modified residueNote=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163
Q9P2061741028327327Modified residueNote=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163
Q9P2061741028330330Modified residueNote=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:A2A7S8
Q9P2061741028338338Modified residueNote=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163
Q9P2061741028339339Modified residueNote=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:16964243,ECO:0000244|PubMed:23186163;Dbxref=PMID:16964243,PMID:23186163
Q9P2061741028341341Modified residueNote=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163
Q9P2061741028342342Modified residueNote=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:16964243,ECO:0000244|PubMed:20068231,ECO:0000244|PubMed:23186163;Dbxref=PMID:16964243,PMID:20068231,PMID:23186163
Q9P2061741028400400Modified residueNote=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:24275569;Dbxref=PMID:24275569
Q9P2061741028404404Modified residueNote=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:A2A7S8
Q9P2061741028409409Modified residueNote=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:A2A7S8
Q9P2061741028531531Modified residueNote=Phosphothreonine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:A2A7S8
Q9P2061741028545545Modified residueNote=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:16964243,ECO:0000244|PubMed:20068231,ECO:0000244|PubMed:21406692,ECO:0000244|PubMed:23186163;Dbxref=PMID:16964243,PMID:20068231,PMID:21406692,PMID
Q9P2061741028593593Modified residueNote=Phosphothreonine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:18669648;Dbxref=PMID:18669648
Q9P2061741028612612Modified residueNote=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:A2A7S8
Q9P2061741028669669Modified residueNote=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:18669648,ECO:0000244|PubMed:21406692,ECO:0000244|PubMed:23186163,ECO:0000244|PubMed:24275569;Dbxref=PMID:18669648,PMID:21406692,PMID:23186163,PMID
Q9P2061741028673673Modified residueNote=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:18669648,ECO:0000244|PubMed:23186163,ECO:0000244|PubMed:24275569;Dbxref=PMID:18669648,PMID:23186163,PMID:24275569
Q9P2061741028858858Modified residueNote=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:18669648,ECO:0000244|PubMed:20068231,ECO:0000244|PubMed:23186163;Dbxref=PMID:18669648,PMID:20068231,PMID:23186163
Q9P2061741028862862Modified residueNote=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:18669648,ECO:0000244|PubMed:20068231,ECO:0000244|PubMed:23186163;Dbxref=PMID:18669648,PMID:20068231,PMID:23186163
Q9P2061741028868868Modified residueNote=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:20068231;Dbxref=PMID:20068231
Q9P2061741028929929Modified residueNote=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:18220336,ECO:0000244|PubMed:18669648,ECO:0000244|PubMed:20068231,ECO:0000244|PubMed:23186163;Dbxref=PMID:18220336,PMID:18669648,PMID:20068231,PMID
Q9P2061741028959959Modified residueNote=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163
Q9P2061741028971971Modified residueNote=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:18669648,ECO:0000244|PubMed:21406692,ECO:0000244|PubMed:23186163;Dbxref=PMID:18669648,PMID:21406692,PMID:23186163
Q9P2061741028979979Modified residueNote=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:18669648,ECO:0000244|PubMed:20068231,ECO:0000244|PubMed:21406692,ECO:0000244|PubMed:23186163;Dbxref=PMID:18669648,PMID:20068231,PMID:21406692,PMID
Q9P2061741028232232Natural variantID=VAR_037192;Note=M->V;Dbxref=dbSNP:rs12730560
Q9P2061741028310310Natural variantID=VAR_037193;Note=L->I;Dbxref=dbSNP:rs11582639
Q9P2061741028770770Natural variantID=VAR_037194;Note=P->L;Dbxref=dbSNP:rs581875
Q9P206174102810211021Natural variantID=VAR_037195;Note=E->K;Dbxref=dbSNP:rs675928


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SNVs in the skipped exons for KIAA1522

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.
KIAA1522_CESC_exon_skip_4028_psi_boxplot.png
boxplot
KIAA1522_COAD_exon_skip_4028_psi_boxplot.png
boxplot
KIAA1522_HNSC_exon_skip_4028_psi_boxplot.png
boxplot
KIAA1522_LIHC_exon_skip_4028_psi_boxplot.png
boxplot
KIAA1522_LUAD_exon_skip_4028_psi_boxplot.png
boxplot
KIAA1522_READ_exon_skip_4028_psi_boxplot.png
boxplot
KIAA1522_STAD_exon_skip_4028_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-A39Y-01exon_skip_4009
33234253332343763323431033234310Frame_Shift_DelT-p.Y174fs
LIHCTCGA-DD-A3A0-01exon_skip_4028
33235481332380423323572133235721Frame_Shift_DelC-p.A314fs
LIHCTCGA-G3-A3CJ-01exon_skip_4028
33235481332380423323572133235721Frame_Shift_DelC-p.A314fs
LIHCTCGA-DD-A39Y-01exon_skip_4028
33235481332380423323577133235771Frame_Shift_DelG-p.G331fs
LIHCTCGA-DD-A39Y-01exon_skip_4028
33235481332380423323578933235789Frame_Shift_DelC-p.P337fs
READTCGA-EI-6882-01exon_skip_4028
33235481332380423323581433235814Frame_Shift_DelC-p.S345fs
STADTCGA-B7-5816-01exon_skip_4028
33235481332380423323581433235814Frame_Shift_DelC-p.S345fs
LIHCTCGA-DD-A3A0-01exon_skip_4028
33235481332380423323629733236297Frame_Shift_DelC-p.S506fs
BLCATCGA-S5-A6DX-01exon_skip_4028
33235481332380423323648033236480Frame_Shift_DelC-p.S567fs
COADTCGA-D5-6540-01exon_skip_4028
33235481332380423323648733236487Frame_Shift_DelC-p.R569fs
STADTCGA-VQ-A94T-01exon_skip_4028
33235481332380423323667833236679Frame_Shift_DelTA-p.633_633del
STADTCGA-VQ-A94T-01exon_skip_4028
33235481332380423323667833236679Frame_Shift_DelTA-p.L633fs
LIHCTCGA-DD-A1EG-01exon_skip_4028
33235481332380423323670233236702Frame_Shift_DelC-p.A641fs
LIHCTCGA-DD-A3A0-01exon_skip_4028
33235481332380423323673533236735Frame_Shift_DelC-p.T652fs
STADTCGA-BR-A4QL-01exon_skip_4028
33235481332380423323673533236735Frame_Shift_DelC-p.T593fs
STADTCGA-BR-A4QL-01exon_skip_4028
33235481332380423323673533236735Frame_Shift_DelC-p.T652fs
LIHCTCGA-DD-A39Y-01exon_skip_4028
33235481332380423323681733236817Frame_Shift_DelC-p.S679fs
STADTCGA-CD-A4MG-01exon_skip_4028
33235481332380423323696533236965Frame_Shift_DelC-p.S728fs
LIHCTCGA-DD-A3A0-01exon_skip_4028
33235481332380423323698033236980Frame_Shift_DelC-p.P735fs
LIHCTCGA-DD-A3A0-01exon_skip_4028
33235481332380423323706733237067Frame_Shift_DelC-p.P763fs
LIHCTCGA-G3-A3CJ-01exon_skip_4028
33235481332380423323710033237100Frame_Shift_DelC-p.P775fs
LUADTCGA-78-7535-01exon_skip_4028
33235481332380423323713933237139Frame_Shift_DelT-p.F728fs
LUADTCGA-78-7535-01exon_skip_4028
33235481332380423323713933237139Frame_Shift_DelT-p.F787fs
LIHCTCGA-DD-A3A0-01exon_skip_4028
33235481332380423323734533237345Frame_Shift_DelC-p.L855fs
LIHCTCGA-DD-A1EG-01exon_skip_4028
33235481332380423323737533237375Frame_Shift_DelG-p.K865fs
LIHCTCGA-G3-A3CJ-01exon_skip_4028
33235481332380423323738833237388Frame_Shift_DelC-p.P870fs
LIHCTCGA-DD-A39Y-01exon_skip_4028
33235481332380423323740933237409Frame_Shift_DelC-p.P877fs
HNSCTCGA-CV-7104-01exon_skip_4028
33235481332380423323757833237578Frame_Shift_DelC-p.A874fs
HNSCTCGA-CV-7104-01exon_skip_4028
33235481332380423323757833237578Frame_Shift_DelC-p.A933fs
LIHCTCGA-DD-A3A0-01exon_skip_4028
33235481332380423323768933237689Frame_Shift_DelC-p.A970fs
LIHCTCGA-G3-A3CJ-01exon_skip_4028
33235481332380423323781433237814Frame_Shift_DelC-p.P1012fs
COADTCGA-G4-6588-01exon_skip_4028
33235481332380423323787933237879Frame_Shift_DelC-p.V1033fs
LIHCTCGA-DD-A3A0-01exon_skip_4028
33235481332380423323789333237893Frame_Shift_DelC-p.S1038fs
BLCATCGA-E7-A85H-01exon_skip_4028
33235481332380423323737033237371Frame_Shift_Ins-GCp.S864fs
LUADTCGA-05-4397-01exon_skip_4028
33235481332380423323581933235819Nonsense_MutationCTp.Q347*
BLCATCGA-FD-A3NA-01exon_skip_4028
33235481332380423323619833236198Nonsense_MutationCGp.S414*
BLCATCGA-FD-A3NA-01exon_skip_4028
33235481332380423323619833236198Nonsense_MutationCGp.S473*
BLCATCGA-CU-A72E-01exon_skip_4028
33235481332380423323637433236374Nonsense_MutationCTp.Q532*
STADTCGA-BR-A4QL-01exon_skip_4028
33235481332380423323661433236614Nonsense_MutationATp.K553*
STADTCGA-BR-A4QL-01exon_skip_4028
33235481332380423323661433236614Nonsense_MutationATp.K612X
LUADTCGA-69-7980-01exon_skip_4028
33235481332380423323670833236708Nonsense_MutationCGp.S584*
LUADTCGA-69-7980-01exon_skip_4028
33235481332380423323670833236708Nonsense_MutationCGp.S643*
BLCATCGA-SY-A9G5-01exon_skip_4028
33235481332380423323734933237349Nonsense_MutationCTp.Q857*
BLCATCGA-G2-A3VY-01exon_skip_4028
33235481332380423323753033237530Nonsense_MutationCGp.S858*
BLCATCGA-G2-A3VY-01exon_skip_4028
33235481332380423323753033237530Nonsense_MutationCGp.S917*
CESCTCGA-IR-A3LA-01exon_skip_4028
33235481332380423323762333237623Nonsense_MutationCGp.S948*

check button - Depth of coverage in the three exons composing exon skipping event
Depth of coverage in three exonsMutation description
KIAA1522_33235273_33235387_33235480_33238042_33238465_33238798_TCGA-05-4397-01Sample: TCGA-05-4397-01
Cancer type: LUAD
ESID: exon_skip_4028
Skipped exon start: 33235481
Skipped exon end: 33238042
Mutation start: 33235819
Mutation end: 33235819
Mutation type: Nonsense_Mutation
Reference seq: C
Mutation seq: T
AAchange: p.Q347*
exon_skip_4028_LUAD_TCGA-05-4397-01.png
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exon_skip_40297_LUAD_TCGA-05-4397-01.png
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KIAA1522_33235273_33235387_33235480_33238042_33238465_33238798_TCGA-D5-6540-01Sample: TCGA-D5-6540-01
Cancer type: COAD
ESID: exon_skip_4028
Skipped exon start: 33235481
Skipped exon end: 33238042
Mutation start: 33236487
Mutation end: 33236487
Mutation type: Frame_Shift_Del
Reference seq: C
Mutation seq: -
AAchange: p.R569fs
exon_skip_149086_COAD_TCGA-D5-6540-01.png
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exon_skip_32368_COAD_TCGA-D5-6540-01.png
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exon_skip_32369_COAD_TCGA-D5-6540-01.png
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exon_skip_366741_COAD_TCGA-D5-6540-01.png
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exon_skip_4028_COAD_TCGA-D5-6540-01.png
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exon_skip_421552_COAD_TCGA-D5-6540-01.png
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exon_skip_460550_COAD_TCGA-D5-6540-01.png
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exon_skip_462427_COAD_TCGA-D5-6540-01.png
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exon_skip_490897_COAD_TCGA-D5-6540-01.png
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exon_skip_57346_COAD_TCGA-D5-6540-01.png
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KIAA1522_33235273_33235387_33235480_33238042_33238465_33238798_TCGA-G4-6588-01Sample: TCGA-G4-6588-01
Cancer type: COAD
ESID: exon_skip_4028
Skipped exon start: 33235481
Skipped exon end: 33238042
Mutation start: 33237879
Mutation end: 33237879
Mutation type: Frame_Shift_Del
Reference seq: C
Mutation seq: -
AAchange: p.V1033fs
exon_skip_135806_COAD_TCGA-G4-6588-01.png
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exon_skip_136696_COAD_TCGA-G4-6588-01.png
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exon_skip_313058_COAD_TCGA-G4-6588-01.png
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exon_skip_322889_COAD_TCGA-G4-6588-01.png
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exon_skip_322890_COAD_TCGA-G4-6588-01.png
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exon_skip_330818_COAD_TCGA-G4-6588-01.png
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exon_skip_382354_COAD_TCGA-G4-6588-01.png
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exon_skip_386802_COAD_TCGA-G4-6588-01.png
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exon_skip_4028_COAD_TCGA-G4-6588-01.png
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exon_skip_434039_COAD_TCGA-G4-6588-01.png
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exon_skip_434040_COAD_TCGA-G4-6588-01.png
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exon_skip_5121_COAD_TCGA-G4-6588-01.png
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exon_skip_5861_COAD_TCGA-G4-6588-01.png
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exon_skip_68768_COAD_TCGA-G4-6588-01.png
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exon_skip_76742_COAD_TCGA-G4-6588-01.png
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KIAA1522_33235273_33235387_33235480_33238042_33238465_33238798_TCGA-CV-7104-01Sample: TCGA-CV-7104-01
Cancer type: HNSC
ESID: exon_skip_4028
Skipped exon start: 33235481
Skipped exon end: 33238042
Mutation start: 33237578
Mutation end: 33237578
Mutation type: Frame_Shift_Del
Reference seq: C
Mutation seq: -
AAchange: p.A933fs
KIAA1522_33235273_33235387_33235480_33238042_33238465_33238798_TCGA-CV-7104-01Sample: TCGA-CV-7104-01
Cancer type: HNSC
ESID: exon_skip_4028
Skipped exon start: 33235481
Skipped exon end: 33238042
Mutation start: 33237578
Mutation end: 33237578
Mutation type: Frame_Shift_Del
Reference seq: C
Mutation seq: -
AAchange: p.A874fs
exon_skip_286384_HNSC_TCGA-CV-7104-01.png
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exon_skip_4028_HNSC_TCGA-CV-7104-01.png
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KIAA1522_33235273_33235387_33235480_33238042_33238465_33238798_TCGA-EI-6882-01Sample: TCGA-EI-6882-01
Cancer type: READ
ESID: exon_skip_4028
Skipped exon start: 33235481
Skipped exon end: 33238042
Mutation start: 33235814
Mutation end: 33235814
Mutation type: Frame_Shift_Del
Reference seq: C
Mutation seq: -
AAchange: p.S345fs
exon_skip_135111_READ_TCGA-EI-6882-01.png
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exon_skip_135112_READ_TCGA-EI-6882-01.png
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exon_skip_135114_READ_TCGA-EI-6882-01.png
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exon_skip_304901_READ_TCGA-EI-6882-01.png
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exon_skip_334382_READ_TCGA-EI-6882-01.png
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exon_skip_334405_READ_TCGA-EI-6882-01.png
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exon_skip_372536_READ_TCGA-EI-6882-01.png
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exon_skip_4028_READ_TCGA-EI-6882-01.png
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exon_skip_439047_READ_TCGA-EI-6882-01.png
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exon_skip_439048_READ_TCGA-EI-6882-01.png
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exon_skip_454428_READ_TCGA-EI-6882-01.png
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exon_skip_454431_READ_TCGA-EI-6882-01.png
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exon_skip_454433_READ_TCGA-EI-6882-01.png
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exon_skip_69190_READ_TCGA-EI-6882-01.png
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KIAA1522_33235273_33235387_33235480_33238042_33238465_33238798_TCGA-VQ-A94T-01Sample: TCGA-VQ-A94T-01
Cancer type: STAD
ESID: exon_skip_4028
Skipped exon start: 33235481
Skipped exon end: 33238042
Mutation start: 33236678
Mutation end: 33236679
Mutation type: Frame_Shift_Del
Reference seq: TA
Mutation seq: -
AAchange: p.633_633del
KIAA1522_33235273_33235387_33235480_33238042_33238465_33238798_TCGA-VQ-A94T-01Sample: TCGA-VQ-A94T-01
Cancer type: STAD
ESID: exon_skip_4028
Skipped exon start: 33235481
Skipped exon end: 33238042
Mutation start: 33236678
Mutation end: 33236679
Mutation type: Frame_Shift_Del
Reference seq: TA
Mutation seq: -
AAchange: p.L633fs
exon_skip_4028_STAD_TCGA-VQ-A94T-01.png
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KIAA1522_33235273_33235387_33235480_33238042_33238465_33238798_TCGA-CD-A4MG-01Sample: TCGA-CD-A4MG-01
Cancer type: STAD
ESID: exon_skip_4028
Skipped exon start: 33235481
Skipped exon end: 33238042
Mutation start: 33236965
Mutation end: 33236965
Mutation type: Frame_Shift_Del
Reference seq: C
Mutation seq: -
AAchange: p.S728fs
exon_skip_126223_STAD_TCGA-CD-A4MG-01.png
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exon_skip_140893_STAD_TCGA-CD-A4MG-01.png
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exon_skip_149455_STAD_TCGA-CD-A4MG-01.png
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exon_skip_27769_STAD_TCGA-CD-A4MG-01.png
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exon_skip_373886_STAD_TCGA-CD-A4MG-01.png
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exon_skip_4028_STAD_TCGA-CD-A4MG-01.png
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exon_skip_434040_STAD_TCGA-CD-A4MG-01.png
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exon_skip_452918_STAD_TCGA-CD-A4MG-01.png
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exon_skip_460764_STAD_TCGA-CD-A4MG-01.png
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exon_skip_460769_STAD_TCGA-CD-A4MG-01.png
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exon_skip_464126_STAD_TCGA-CD-A4MG-01.png
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exon_skip_467032_STAD_TCGA-CD-A4MG-01.png
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exon_skip_477308_STAD_TCGA-CD-A4MG-01.png
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exon_skip_493826_STAD_TCGA-CD-A4MG-01.png
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exon_skip_493827_STAD_TCGA-CD-A4MG-01.png
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exon_skip_499045_STAD_TCGA-CD-A4MG-01.png
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exon_skip_63587_STAD_TCGA-CD-A4MG-01.png
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exon_skip_74321_STAD_TCGA-CD-A4MG-01.png
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check button - Non-synonymous mutations located in the skipped exons in CCLE.
SampleSkipped exon startSkipped exon endMutation startMutation endMutation typeReference seqMutation seqAAchange
SLR21_KIDNEY33235481332380423323564433235645Frame_Shift_DelAG-p.E230fs
IGROV1_OVARY33235481332380423323648733236487Frame_Shift_DelC-p.R510fs
OVK18_OVARY33235481332380423323708833237088Frame_Shift_DelC-p.P716fs
OVK18_OVARY33235481332380423323710033237100Frame_Shift_DelC-p.P716fs
MOLT4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE33235481332380423323787933237879Frame_Shift_DelC-p.V974fs
SNU520_STOMACH33235481332380423323627433236275Frame_Shift_Ins-Cp.P440fs
MOLT3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE33235481332380423323673433236735Frame_Shift_Ins-Cp.T593fs
MOLT4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE33235481332380423323673433236735Frame_Shift_Ins-Cp.T593fs
NCIH1105_LUNG33234253332343763323428833234290In_Frame_DelCTT-p.F108del
COV434_OVARY33235481332380423323801533238017In_Frame_DelGAG-p.E1021del
SNU175_LARGE_INTESTINE33234253332343763323426933234269Missense_MutationCTp.P101L
HEC108_ENDOMETRIUM33234253332343763323427733234277Missense_MutationGAp.D104N
NCIH2110_LUNG33235274332353873323532133235321Missense_MutationGTp.G153W
MOLT3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE33235274332353873323533133235331Missense_MutationGAp.R156Q
MOLT4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE33235274332353873323533133235331Missense_MutationGAp.R156Q
RCHACV_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE33235274332353873323534633235346Missense_MutationGTp.S161I
HCC2450_LUNG33235274332353873323538133235381Missense_MutationGCp.E173Q
CCK81_LARGE_INTESTINE33235481332380423323551633235516Missense_MutationCTp.R187W
CTV1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE33235481332380423323555333235553Missense_MutationCTp.T199I
KNS42_CENTRAL_NERVOUS_SYSTEM33235481332380423323558233235582Missense_MutationGAp.G209R
HEC108_ENDOMETRIUM33235481332380423323560433235604Missense_MutationTAp.L216Q
HCT116_LARGE_INTESTINE33235481332380423323563433235634Missense_MutationGAp.G226D
MOLT16_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE33235481332380423323567333235673Missense_MutationGAp.R239H
YH13_CENTRAL_NERVOUS_SYSTEM33235481332380423323570533235705Missense_MutationTCp.S250P
MERO83_LUNG33235481332380423323571233235712Missense_MutationGAp.G252D
CL40_LARGE_INTESTINE33235481332380423323585033235850Missense_MutationAGp.H298R
KMH2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE33235481332380423323586233235862Missense_MutationCTp.P302L
GP2D_LARGE_INTESTINE33235481332380423323591033235910Missense_MutationTCp.L318P
GP5D_LARGE_INTESTINE33235481332380423323591033235910Missense_MutationTCp.L318P
AN3CA_ENDOMETRIUM33235481332380423323599133235991Missense_MutationCAp.P345H
MM127_SKIN33235481332380423323601533236015Missense_MutationCTp.S353F
KARPAS45_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE33235481332380423323617433236174Missense_MutationGAp.S406N
HEPG2_LIVER33235481332380423323636033236360Missense_MutationGAp.R468H
CORL23_LUNG33235481332380423323637233236372Missense_MutationCTp.P472L
SARC9371_BONE33235481332380423323662033236620Missense_MutationGAp.E555K
MOLT4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE33235481332380423323665633236656Missense_MutationGAp.V567I
BC3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE33235481332380423323671033236710Missense_MutationGAp.D585N
COLO320_LARGE_INTESTINE33235481332380423323680133236801Missense_MutationCTp.P615L
KYM1_SOFT_TISSUE33235481332380423323689733236897Missense_MutationCTp.S647F
H2369_PLEURA33235481332380423323696033236960Missense_MutationATp.Q668L
HCT15_LARGE_INTESTINE33235481332380423323697233236972Missense_MutationCAp.P672H
CHP212_AUTONOMIC_GANGLIA33235481332380423323698033236980Missense_MutationCAp.P675T
697_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE33235481332380423323701433237014Missense_MutationAGp.K686R
CW2_LARGE_INTESTINE33235481332380423323710633237106Missense_MutationGAp.A717T
JHU028_LUNG33235481332380423323713233237132Missense_MutationGAp.M725I
JURKAT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE33235481332380423323720033237200Missense_MutationGAp.G748D
HEC1_ENDOMETRIUM33235481332380423323728133237281Missense_MutationACp.D775A
HEC1_ENDOMETRIUM33235481332380423323729533237295Missense_MutationCTp.P780S
DND41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE33235481332380423323730733237307Missense_MutationGAp.A784T
HEC251_ENDOMETRIUM33235481332380423323734133237341Missense_MutationACp.K795T
KS1_CENTRAL_NERVOUS_SYSTEM33235481332380423323749433237494Missense_MutationCTp.P846L
NCIH1869_LUNG33235481332380423323749733237497Missense_MutationCTp.S847L
MOLT4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE33235481332380423323749733237497Missense_MutationCTp.S847L
CORL321_PLEURA33235481332380423323760133237601Missense_MutationCAp.L882M
MM370_SKIN33235481332380423323768633237686Missense_MutationCTp.T910M
KARPAS45_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE33235481332380423323777833237778Missense_MutationGAp.V941M
SKGIIIA_CERVIX33235481332380423323792833237928Missense_MutationCTp.P991S
KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE33235481332380423323581933235819Nonsense_MutationCTp.Q288*

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for KIAA1522

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 KIAA1522


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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for KIAA1522


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RelatedDrugs for KIAA1522

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 KIAA1522

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