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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 USP19

check button Gene summary
Gene informationGene symbol

USP19

Gene ID

10869

Gene nameubiquitin specific peptidase 19
SynonymsZMYND9
Cytomap

3p21.31

Type of geneprotein-coding
Descriptionubiquitin carboxyl-terminal hydrolase 19deubiquitinating enzyme 19ubiquitin specific protease 19ubiquitin thioesterase 19ubiquitin thiolesterase 19ubiquitin-specific-processing protease 19zinc finger MYND domain-containing protein 9
Modification date20180523
UniProtAcc

O94966

ContextPubMed: USP19 [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
USP19

GO:0030433

ubiquitin-dependent ERAD pathway

19465887


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Exon skipping events across known transcript of Ensembl for USP19 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 USP19

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 USP19

check button Information of exkip skipping event in TCGA.
Exon skip IDchrExons involved in exon skippingSkipped exonENSGENSTs
exon_skip_384049349149716:49149835:49149921:49150062:49151424:4915152649149921:49150062ENSG00000172046.14ENST00000398892.3,ENST00000398896.1,ENST00000398898.2,ENST00000417901.1,ENST00000453664.1,ENST00000434032.2,ENST00000398888.2
exon_skip_384052349151424:49151526:49151606:49151717:49152195:4915230649151606:49151717ENSG00000172046.14ENST00000398892.3,ENST00000398896.1,ENST00000398898.2,ENST00000417901.1,ENST00000453664.1,ENST00000434032.2,ENST00000398888.2
exon_skip_384055349152195:49152306:49152391:49152550:49152660:4915279449152391:49152550ENSG00000172046.14ENST00000398892.3,ENST00000398896.1,ENST00000398898.2,ENST00000417901.1,ENST00000453664.1,ENST00000434032.2,ENST00000398888.2
exon_skip_384056349153156:49153371:49153479:49153595:49153712:4915378449153479:49153595ENSG00000172046.14ENST00000453664.1,ENST00000434032.2,ENST00000398888.2
exon_skip_384057349153156:49153377:49153479:49153595:49153712:4915378449153479:49153595ENSG00000172046.14ENST00000398892.3,ENST00000398896.1,ENST00000398898.2,ENST00000417901.1,ENST00000306026.5
exon_skip_384059349153480:49153595:49153712:49153784:49153883:4915404049153712:49153784ENSG00000172046.14ENST00000398892.3,ENST00000398896.1,ENST00000398898.2,ENST00000464931.1,ENST00000417901.1,ENST00000306026.5,ENST00000453664.1,ENST00000434032.2,ENST00000398888.2
exon_skip_384062349153723:49153784:49153883:49154040:49154159:4915437649153883:49154040ENSG00000172046.14ENST00000398892.3,ENST00000398896.1,ENST00000398898.2,ENST00000464931.1,ENST00000417901.1,ENST00000306026.5,ENST00000453664.1,ENST00000434032.2,ENST00000398888.2
exon_skip_384067349154166:49154376:49154491:49154791:49154869:4915499249154491:49154791ENSG00000172046.14ENST00000398892.3,ENST00000398898.2
exon_skip_384069349154166:49154376:49154491:49154794:49154869:4915499249154491:49154794ENSG00000172046.14ENST00000417901.1,ENST00000306026.5,ENST00000434032.2
exon_skip_384070349154166:49154376:49154491:49154794:49154899:4915500349154491:49154794ENSG00000172046.14ENST00000453664.1
exon_skip_384075349154166:49154376:49154869:49155003:49155089:4915514449154869:49155003ENSG00000172046.14ENST00000398896.1,ENST00000398888.2
exon_skip_384085349155089:49155218:49155379:49155553:49156454:4915671449155379:49155553ENSG00000172046.14ENST00000306026.5,ENST00000488993.1
exon_skip_384089349155089:49155263:49155379:49155553:49156454:4915671449155379:49155553ENSG00000172046.14ENST00000417901.1,ENST00000491859.1,ENST00000453664.1,ENST00000434032.2,ENST00000398888.2

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

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Exon skipping events with PSIs in GTEx for USP19

check button Information of exkip skipping event in GTEx
Exon skip IDchrExons involved in exon skippingSkipped exonENSGENSTs
exon_skip_384049349149716:49149835:49149921:49150062:49151424:4915152649149921:49150062ENSG00000172046.14ENST00000398896.1,ENST00000398898.2,ENST00000417901.1,ENST00000453664.1,ENST00000398892.3,ENST00000398888.2,ENST00000434032.2
exon_skip_384052349151424:49151526:49151606:49151717:49152195:4915230649151606:49151717ENSG00000172046.14ENST00000398896.1,ENST00000398898.2,ENST00000417901.1,ENST00000453664.1,ENST00000398892.3,ENST00000398888.2,ENST00000434032.2
exon_skip_384055349152195:49152306:49152391:49152550:49152660:4915279449152391:49152550ENSG00000172046.14ENST00000398896.1,ENST00000398898.2,ENST00000417901.1,ENST00000453664.1,ENST00000398892.3,ENST00000398888.2,ENST00000434032.2
exon_skip_384056349153156:49153371:49153479:49153595:49153712:4915378449153479:49153595ENSG00000172046.14ENST00000453664.1,ENST00000398888.2,ENST00000434032.2
exon_skip_384057349153156:49153377:49153479:49153595:49153712:4915378449153479:49153595ENSG00000172046.14ENST00000398896.1,ENST00000398898.2,ENST00000417901.1,ENST00000398892.3,ENST00000306026.5
exon_skip_384059349153480:49153595:49153712:49153784:49153883:4915404049153712:49153784ENSG00000172046.14ENST00000398896.1,ENST00000398898.2,ENST00000417901.1,ENST00000453664.1,ENST00000398892.3,ENST00000398888.2,ENST00000434032.2,ENST00000306026.5,ENST00000464931.1
exon_skip_384062349153723:49153784:49153883:49154040:49154159:4915437649153883:49154040ENSG00000172046.14ENST00000398896.1,ENST00000398898.2,ENST00000417901.1,ENST00000453664.1,ENST00000398892.3,ENST00000398888.2,ENST00000434032.2,ENST00000306026.5,ENST00000464931.1
exon_skip_384067349154166:49154376:49154491:49154791:49154869:4915499249154491:49154791ENSG00000172046.14ENST00000398898.2,ENST00000398892.3
exon_skip_384069349154166:49154376:49154491:49154794:49154869:4915499249154491:49154794ENSG00000172046.14ENST00000417901.1,ENST00000434032.2,ENST00000306026.5
exon_skip_384070349154166:49154376:49154491:49154794:49154899:4915500349154491:49154794ENSG00000172046.14ENST00000453664.1
exon_skip_384075349154166:49154376:49154869:49155003:49155089:4915514449154869:49155003ENSG00000172046.14ENST00000398896.1,ENST00000398888.2
exon_skip_384089349155089:49155263:49155379:49155553:49156454:4915671449155379:49155553ENSG00000172046.14ENST00000417901.1,ENST00000453664.1,ENST00000398888.2,ENST00000434032.2,ENST00000491859.1

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 USP19

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
ENST000003988884915347949153595Frame-shift
ENST000003988884915388349154040Frame-shift
ENST000003988884915486949155003Frame-shift
ENST000003988884914992149150062In-frame
ENST000003988884915160649151717In-frame
ENST000003988884915239149152550In-frame
ENST000003988884915371249153784In-frame
ENST000003988884915537949155553In-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
ENST000003988884915347949153595Frame-shift
ENST000003988884915388349154040Frame-shift
ENST000003988884915486949155003Frame-shift
ENST000003988884914992149150062In-frame
ENST000003988884915160649151717In-frame
ENST000003988884915239149152550In-frame
ENST000003988884915371249153784In-frame
ENST000003988884915537949155553In-frame

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Infer the effects of exon skipping event on protein functional features for USP19

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
ENST000003988884576131849155379491555534446174199
ENST0000039888845761318491537124915378413001371327350
ENST0000039888845761318491523914915255020332191571624
ENST0000039888845761318491516064915171723032413661698
ENST0000039888845761318491499214915006225162656732779

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
ENST000003988884576131849155379491555534446174199
ENST0000039888845761318491537124915378413001371327350
ENST0000039888845761318491523914915255020332191571624
ENST0000039888845761318491516064915171723032413661698
ENST0000039888845761318491499214915006225162656732779

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


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


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SNVs in the skipped exons for USP19

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-DD-A1EG-01exon_skip_384049
49149922491500624915004549150045Frame_Shift_DelA-p.F829fs
STADTCGA-BR-4363-01exon_skip_384056
exon_skip_384057
49153480491535954915350349153503Frame_Shift_DelC-p.G382fs
STADTCGA-BR-4363-01exon_skip_384056
exon_skip_384057
49153480491535954915350349153503Frame_Shift_DelC-p.G483fs
LIHCTCGA-DD-A39Y-01exon_skip_384056
exon_skip_384057
49153480491535954915358149153581Frame_Shift_DelG-p.P447fs
LIHCTCGA-DD-A3A0-01exon_skip_384075
49154870491550034915490149154901Frame_Shift_DelT-p.K192fs
STADTCGA-BR-4361-01exon_skip_384056
exon_skip_384057
49153480491535954915350349153504Frame_Shift_Ins-Cp.G382fs
COADTCGA-AZ-6598-01exon_skip_384067
49154492491547914915473749154737Nonsense_MutationGAp.Q212X
COADTCGA-AZ-6598-01exon_skip_384070
exon_skip_384069
49154492491547944915473749154737Nonsense_MutationGAp.Q212X
LUADTCGA-05-4420-01exon_skip_384052
49151607491517174915171849151718Splice_SiteCAp.V662_splice
CESCTCGA-DG-A2KL-01exon_skip_384062
49153884491540404915404149154041Splice_SiteCGe6-1

check button - Depth of coverage in the three exons composing exon skipping event
Depth of coverage in three exonsMutation description
USP19_49154166_49154376_49154491_49154794_49154899_49155003_TCGA-AZ-6598-01Sample: TCGA-AZ-6598-01
Cancer type: COAD
ESID: exon_skip_384069
Skipped exon start: 49154492
Skipped exon end: 49154794
Mutation start: 49154737
Mutation end: 49154737
Mutation type: Nonsense_Mutation
Reference seq: G
Mutation seq: A
AAchange: p.Q212X
USP19_49154166_49154376_49154491_49154794_49154899_49155003_TCGA-AZ-6598-01Sample: TCGA-AZ-6598-01
Cancer type: COAD
ESID: exon_skip_384067
Skipped exon start: 49154492
Skipped exon end: 49154791
Mutation start: 49154737
Mutation end: 49154737
Mutation type: Nonsense_Mutation
Reference seq: G
Mutation seq: A
AAchange: p.Q212X
exon_skip_11218_COAD_TCGA-AZ-6598-01.png
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exon_skip_11256_COAD_TCGA-AZ-6598-01.png
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exon_skip_11259_COAD_TCGA-AZ-6598-01.png
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exon_skip_11263_COAD_TCGA-AZ-6598-01.png
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exon_skip_135111_COAD_TCGA-AZ-6598-01.png
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exon_skip_135112_COAD_TCGA-AZ-6598-01.png
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exon_skip_135114_COAD_TCGA-AZ-6598-01.png
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exon_skip_139080_COAD_TCGA-AZ-6598-01.png
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exon_skip_142268_COAD_TCGA-AZ-6598-01.png
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exon_skip_149455_COAD_TCGA-AZ-6598-01.png
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exon_skip_300996_COAD_TCGA-AZ-6598-01.png
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exon_skip_303809_COAD_TCGA-AZ-6598-01.png
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exon_skip_357723_COAD_TCGA-AZ-6598-01.png
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exon_skip_384067_COAD_TCGA-AZ-6598-01.png
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exon_skip_384069_COAD_TCGA-AZ-6598-01.png
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exon_skip_384070_COAD_TCGA-AZ-6598-01.png
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exon_skip_434039_COAD_TCGA-AZ-6598-01.png
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exon_skip_434040_COAD_TCGA-AZ-6598-01.png
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exon_skip_434375_COAD_TCGA-AZ-6598-01.png
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exon_skip_434763_COAD_TCGA-AZ-6598-01.png
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exon_skip_439048_COAD_TCGA-AZ-6598-01.png
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exon_skip_49506_COAD_TCGA-AZ-6598-01.png
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exon_skip_54471_COAD_TCGA-AZ-6598-01.png
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exon_skip_54472_COAD_TCGA-AZ-6598-01.png
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exon_skip_84515_COAD_TCGA-AZ-6598-01.png
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USP19_49154166_49154376_49154491_49154794_49154869_49154992_TCGA-AZ-6598-01Sample: TCGA-AZ-6598-01
Cancer type: COAD
ESID: exon_skip_384069
Skipped exon start: 49154492
Skipped exon end: 49154794
Mutation start: 49154737
Mutation end: 49154737
Mutation type: Nonsense_Mutation
Reference seq: G
Mutation seq: A
AAchange: p.Q212X
USP19_49154166_49154376_49154491_49154794_49154869_49154992_TCGA-AZ-6598-01Sample: TCGA-AZ-6598-01
Cancer type: COAD
ESID: exon_skip_384067
Skipped exon start: 49154492
Skipped exon end: 49154791
Mutation start: 49154737
Mutation end: 49154737
Mutation type: Nonsense_Mutation
Reference seq: G
Mutation seq: A
AAchange: p.Q212X
exon_skip_11218_COAD_TCGA-AZ-6598-01.png
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exon_skip_11256_COAD_TCGA-AZ-6598-01.png
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exon_skip_11259_COAD_TCGA-AZ-6598-01.png
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exon_skip_11263_COAD_TCGA-AZ-6598-01.png
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exon_skip_135111_COAD_TCGA-AZ-6598-01.png
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exon_skip_135112_COAD_TCGA-AZ-6598-01.png
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exon_skip_135114_COAD_TCGA-AZ-6598-01.png
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exon_skip_139080_COAD_TCGA-AZ-6598-01.png
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exon_skip_142268_COAD_TCGA-AZ-6598-01.png
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exon_skip_149455_COAD_TCGA-AZ-6598-01.png
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exon_skip_300996_COAD_TCGA-AZ-6598-01.png
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exon_skip_303809_COAD_TCGA-AZ-6598-01.png
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exon_skip_357723_COAD_TCGA-AZ-6598-01.png
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exon_skip_384067_COAD_TCGA-AZ-6598-01.png
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exon_skip_384069_COAD_TCGA-AZ-6598-01.png
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exon_skip_384070_COAD_TCGA-AZ-6598-01.png
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exon_skip_434039_COAD_TCGA-AZ-6598-01.png
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exon_skip_434040_COAD_TCGA-AZ-6598-01.png
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exon_skip_434375_COAD_TCGA-AZ-6598-01.png
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exon_skip_434763_COAD_TCGA-AZ-6598-01.png
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exon_skip_439048_COAD_TCGA-AZ-6598-01.png
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exon_skip_49506_COAD_TCGA-AZ-6598-01.png
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exon_skip_54471_COAD_TCGA-AZ-6598-01.png
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exon_skip_54472_COAD_TCGA-AZ-6598-01.png
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exon_skip_84515_COAD_TCGA-AZ-6598-01.png
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USP19_49154166_49154376_49154491_49154791_49154869_49154992_TCGA-AZ-6598-01Sample: TCGA-AZ-6598-01
Cancer type: COAD
ESID: exon_skip_384069
Skipped exon start: 49154492
Skipped exon end: 49154794
Mutation start: 49154737
Mutation end: 49154737
Mutation type: Nonsense_Mutation
Reference seq: G
Mutation seq: A
AAchange: p.Q212X
USP19_49154166_49154376_49154491_49154791_49154869_49154992_TCGA-AZ-6598-01Sample: TCGA-AZ-6598-01
Cancer type: COAD
ESID: exon_skip_384067
Skipped exon start: 49154492
Skipped exon end: 49154791
Mutation start: 49154737
Mutation end: 49154737
Mutation type: Nonsense_Mutation
Reference seq: G
Mutation seq: A
AAchange: p.Q212X
exon_skip_11218_COAD_TCGA-AZ-6598-01.png
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exon_skip_11256_COAD_TCGA-AZ-6598-01.png
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exon_skip_11259_COAD_TCGA-AZ-6598-01.png
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exon_skip_11263_COAD_TCGA-AZ-6598-01.png
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exon_skip_135111_COAD_TCGA-AZ-6598-01.png
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exon_skip_135112_COAD_TCGA-AZ-6598-01.png
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exon_skip_135114_COAD_TCGA-AZ-6598-01.png
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exon_skip_139080_COAD_TCGA-AZ-6598-01.png
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exon_skip_142268_COAD_TCGA-AZ-6598-01.png
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exon_skip_149455_COAD_TCGA-AZ-6598-01.png
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exon_skip_300996_COAD_TCGA-AZ-6598-01.png
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exon_skip_303809_COAD_TCGA-AZ-6598-01.png
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exon_skip_357723_COAD_TCGA-AZ-6598-01.png
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exon_skip_384067_COAD_TCGA-AZ-6598-01.png
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exon_skip_384069_COAD_TCGA-AZ-6598-01.png
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exon_skip_384070_COAD_TCGA-AZ-6598-01.png
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exon_skip_434039_COAD_TCGA-AZ-6598-01.png
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exon_skip_434040_COAD_TCGA-AZ-6598-01.png
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exon_skip_434375_COAD_TCGA-AZ-6598-01.png
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exon_skip_434763_COAD_TCGA-AZ-6598-01.png
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exon_skip_439048_COAD_TCGA-AZ-6598-01.png
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exon_skip_49506_COAD_TCGA-AZ-6598-01.png
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exon_skip_54471_COAD_TCGA-AZ-6598-01.png
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exon_skip_54472_COAD_TCGA-AZ-6598-01.png
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exon_skip_84515_COAD_TCGA-AZ-6598-01.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
PANC0213_PANCREAS49149922491500624915005049150050Missense_MutationGCp.R737G
DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE49151607491517174915162349151623Missense_MutationTCp.H693R
42MGBA_CENTRAL_NERVOUS_SYSTEM49151607491517174915170249151702Missense_MutationCAp.D667Y
SW684_SOFT_TISSUE49152392491525504915242049152420Missense_MutationGAp.T615I
A375_SKIN49152392491525504915243749152437Missense_MutationGTp.N609K
SNU1040_LARGE_INTESTINE49152392491525504915244749152447Missense_MutationCTp.R606H
LS411N_LARGE_INTESTINE49152392491525504915251149152511Missense_MutationCTp.A585T
22RV1_PROSTATE49152392491525504915251949152519Missense_MutationGAp.T582I
JHOC5_OVARY49152392491525504915252749152527Missense_MutationGCp.S579R
NCIH358_LUNG49153713491537844915372349153723Missense_MutationCAp.V348L
IGROV1_OVARY49153884491540404915391749153917Missense_MutationCTp.R316H
FLO1_OESOPHAGUS49153884491540404915396349153963Missense_MutationCTp.V301M
UDSCC2_UPPER_AERODIGESTIVE_TRACT49153884491540404915397749153977Missense_MutationGAp.S296L
HUPT4_PANCREAS49153884491540404915402649154026Missense_MutationCTp.V280M
HDMYZ_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE49153884491540404915403549154035Missense_MutationCTp.E277K
SNU175_LARGE_INTESTINE49154870491550034915492049154920Missense_MutationGAp.H186Y
CORL23_LUNG49155380491555534915542749155427Missense_MutationGAp.S84L
NCIH2066_LUNG49155380491555534915544149155442Missense_MutationCCAAp.R79L
QGP1_PANCREAS49155380491555534915544249155442Missense_MutationCTp.R79Q
NCIH2066_LUNG49155380491555534915544249155442Missense_MutationCAp.R79L
TUHR10TKB_KIDNEY49155380491555534915545149155451Missense_MutationTGp.H76P
LU135_LUNG49155380491555534915545149155451Missense_MutationTGp.H76P
SKM1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE49155380491555534915545149155451Missense_MutationTGp.H76P
TCYIK_CERVIX49155380491555534915545149155451Missense_MutationTGp.H76P
YH13_CENTRAL_NERVOUS_SYSTEM49155380491555534915545149155451Missense_MutationTGp.H76P
NCIH2066_LUNG49155380491555534915549349155493Missense_MutationGAp.S62F
IPC298_SKIN49155380491555534915549749155497Missense_MutationGAp.P61S
MFE319_ENDOMETRIUM49155380491555534915550049155500Missense_MutationCTp.D60N
MOLT3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE49155380491555534915550849155508Missense_MutationGTp.A57D
SNU719_STOMACH49152392491525504915251249152512Nonsense_MutationATp.Y584*
NCIH1155_LUNG49153713491537844915372649153726Nonsense_MutationGAp.Q347*

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for USP19

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 USP19


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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for USP19


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RelatedDrugs for USP19

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 USP19

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