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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 C20orf96

check button Gene summary
Gene informationGene symbol

C20orf96

Gene ID

140680

Gene namechromosome 20 open reading frame 96
SynonymsdJ1103G7.2
Cytomap

20p13

Type of geneprotein-coding
Descriptionuncharacterized protein C20orf96
Modification date20180519
UniProtAcc

Q9NUD7

ContextPubMed: C20orf96 [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 C20orf96 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 C20orf96

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 C20orf96

check button Information of exkip skipping event in TCGA.
Exon skip IDchrExons involved in exon skippingSkipped exonENSGENSTs
exon_skip_35418020251503:251908:256608:256727:257433:257520256608:256727ENSG00000196476.7ENST00000360321.2,ENST00000382369.5
exon_skip_35418620256608:256727:257433:257520:257684:257786257433:257520ENSG00000196476.7ENST00000360321.2,ENST00000382369.5
exon_skip_35419120264603:264722:270199:270317:270899:270948270199:270317ENSG00000196476.7ENST00000360321.2
exon_skip_35419420270199:270317:270899:270948:271231:271304270899:270948ENSG00000196476.7ENST00000360321.2

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

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Exon skipping events with PSIs in GTEx for C20orf96

check button Information of exkip skipping event in GTEx
Exon skip IDchrExons involved in exon skippingSkipped exonENSGENSTs
exon_skip_35418020251503:251908:256608:256727:257433:257520256608:256727ENSG00000196476.7ENST00000382369.5,ENST00000360321.2
exon_skip_35418620256608:256727:257433:257520:257684:257786257433:257520ENSG00000196476.7ENST00000382369.5,ENST00000360321.2
exon_skip_35419120264603:264722:270199:270317:270899:270948270199:270317ENSG00000196476.7ENST00000360321.2
exon_skip_35419420270199:270317:270899:270948:271231:271304270899:270948ENSG00000196476.7ENST00000360321.2

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 C20orf96

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
ENST00000360321256608256727Frame-shift
ENST00000360321270199270317Frame-shift
ENST00000360321270899270948Frame-shift
ENST00000360321257433257520In-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
ENST00000360321256608256727Frame-shift
ENST00000360321270199270317Frame-shift
ENST00000360321270899270948Frame-shift
ENST00000360321257433257520In-frame

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Infer the effects of exon skipping event on protein functional features for C20orf96

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
ENST0000036032115923632574332575209651051275304

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
ENST0000036032115923632574332575209651051275304

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
Q9NUD72753041363ChainID=PRO_0000079450;Note=Uncharacterized protein C20orf96
Q9NUD7275304109329Coiled coilOntology_term=ECO:0000255;evidence=ECO:0000255


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
Q9NUD72753041363ChainID=PRO_0000079450;Note=Uncharacterized protein C20orf96
Q9NUD7275304109329Coiled coilOntology_term=ECO:0000255;evidence=ECO:0000255


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SNVs in the skipped exons for C20orf96

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.
C20orf96_LGG_exon_skip_354191_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
LGGTCGA-DU-6392-01270200270317270254270254Nonsense_MutationGAp.Q45*
COADTCGA-AA-3518-01270200270317270299270299Nonsense_MutationGAp.Q30X

check button - Depth of coverage in the three exons composing exon skipping event
Depth of coverage in three exonsMutation description
C20orf96_264603_264722_270199_270317_270899_270948_TCGA-DU-6392-01Sample: TCGA-DU-6392-01
Cancer type: LGG
ESID:
Skipped exon start: 270200
Skipped exon end: 270317
Mutation start: 270254
Mutation end: 270254
Mutation type: Nonsense_Mutation
Reference seq: G
Mutation seq: A
AAchange: p.Q45*
exon_skip_106946_LGG_TCGA-DU-6392-01.png
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exon_skip_114879_LGG_TCGA-DU-6392-01.png
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exon_skip_120606_LGG_TCGA-DU-6392-01.png
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exon_skip_130417_LGG_TCGA-DU-6392-01.png
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exon_skip_138304_LGG_TCGA-DU-6392-01.png
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exon_skip_143841_LGG_TCGA-DU-6392-01.png
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exon_skip_143843_LGG_TCGA-DU-6392-01.png
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exon_skip_145922_LGG_TCGA-DU-6392-01.png
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exon_skip_155098_LGG_TCGA-DU-6392-01.png
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exon_skip_26359_LGG_TCGA-DU-6392-01.png
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exon_skip_290929_LGG_TCGA-DU-6392-01.png
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exon_skip_297109_LGG_TCGA-DU-6392-01.png
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exon_skip_33957_LGG_TCGA-DU-6392-01.png
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exon_skip_343170_LGG_TCGA-DU-6392-01.png
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exon_skip_354191_LGG_TCGA-DU-6392-01.png
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exon_skip_367235_LGG_TCGA-DU-6392-01.png
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exon_skip_423495_LGG_TCGA-DU-6392-01.png
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exon_skip_423582_LGG_TCGA-DU-6392-01.png
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exon_skip_430528_LGG_TCGA-DU-6392-01.png
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exon_skip_432953_LGG_TCGA-DU-6392-01.png
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exon_skip_436589_LGG_TCGA-DU-6392-01.png
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exon_skip_438105_LGG_TCGA-DU-6392-01.png
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exon_skip_438310_LGG_TCGA-DU-6392-01.png
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exon_skip_442085_LGG_TCGA-DU-6392-01.png
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exon_skip_481046_LGG_TCGA-DU-6392-01.png
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exon_skip_484517_LGG_TCGA-DU-6392-01.png
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exon_skip_502736_LGG_TCGA-DU-6392-01.png
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exon_skip_512614_LGG_TCGA-DU-6392-01.png
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exon_skip_7508_LGG_TCGA-DU-6392-01.png
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exon_skip_7509_LGG_TCGA-DU-6392-01.png
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exon_skip_79467_LGG_TCGA-DU-6392-01.png
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exon_skip_85050_LGG_TCGA-DU-6392-01.png
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exon_skip_95050_LGG_TCGA-DU-6392-01.png
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exon_skip_95053_LGG_TCGA-DU-6392-01.png
boxplot

check button - Non-synonymous mutations located in the skipped exons in CCLE.
SampleSkipped exon startSkipped exon endMutation startMutation endMutation typeReference seqMutation seqAAchange
SW403_LARGE_INTESTINE257434257520257461257461Missense_MutationGTp.F295L
DU145_PROSTATE257434257520257510257510Missense_MutationCAp.R279L
DU145_PROSTATE257434257520257510257511Missense_MutationCGATp.R279I
DU145_PROSTATE257434257520257511257511Missense_MutationGTp.R279S
KARPAS45_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE270200270317270244270244Missense_MutationCTp.S48N
HUH6_LIVER270200270317270257270257Missense_MutationGCp.Q44E
HUH6CLONE5_LIVER270200270317270257270257Missense_MutationGCp.Q44E
CAL148_BREAST270200270317270287270287Missense_MutationCTp.E34K
NCIBL2087_MATCHED_NORMAL_TISSUE256609256727256649256649Nonsense_MutationGAp.R331*
NCIH2087_LUNG256609256727256649256649Nonsense_MutationGAp.R331*

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for C20orf96

check button sQTL information located at the skipped exons.
Exon skip IDChromosomeThree exonsSkippped exonENSTCancer typeSNP idLocationDNA change (ref/var)P-value
exon_skip_35418020251503:251908:256608:256727:257433:257520256608:256727ENST00000360321.2,ENST00000382369.5GBMrs3827147chr20:256727A/T7.49e-05
exon_skip_35418020251503:251908:256608:256727:257433:257520256608:256727ENST00000360321.2,ENST00000382369.5GBMrs3827147chr20:256727A/T7.49e-05
exon_skip_35418020251503:251908:256608:256727:257433:257520256608:256727ENST00000360321.2,ENST00000382369.5CESCrs3827147chr20:256727A/T1.68e-04
exon_skip_35418020251503:251908:256608:256727:257433:257520256608:256727ENST00000360321.2,ENST00000382369.5CESCrs3827147chr20:256727A/T1.68e-04
exon_skip_35418020251503:251908:256608:256727:257433:257520256608:256727ENST00000360321.2,ENST00000382369.5COADrs3827147chr20:256727A/T7.07e-09
exon_skip_35418020251503:251908:256608:256727:257433:257520256608:256727ENST00000360321.2,ENST00000382369.5COADrs3827147chr20:256727A/T7.07e-09
exon_skip_35418020251503:251908:256608:256727:257433:257520256608:256727ENST00000360321.2,ENST00000382369.5BLCArs3827147chr20:256727A/T1.23e-05
exon_skip_35418020251503:251908:256608:256727:257433:257520256608:256727ENST00000360321.2,ENST00000382369.5BLCArs3827147chr20:256727A/T3.74e-05
exon_skip_35418020251503:251908:256608:256727:257433:257520256608:256727ENST00000360321.2,ENST00000382369.5BLCArs3827147chr20:256727A/T3.74e-05
exon_skip_35418020251503:251908:256608:256727:257433:257520256608:256727ENST00000360321.2,ENST00000382369.5BLCArs3827147chr20:256727A/T4.87e-05
exon_skip_35418020251503:251908:256608:256727:257433:257520256608:256727ENST00000360321.2,ENST00000382369.5BRCArs3827147chr20:256727A/T2.35e-23
exon_skip_35418020251503:251908:256608:256727:257433:257520256608:256727ENST00000360321.2,ENST00000382369.5BRCArs3827147chr20:256727A/T2.36e-23
exon_skip_35418020251503:251908:256608:256727:257433:257520256608:256727ENST00000360321.2,ENST00000382369.5BRCArs3827147chr20:256727A/T1.28e-07
exon_skip_35418020251503:251908:256608:256727:257433:257520256608:256727ENST00000360321.2,ENST00000382369.5BRCArs3827147chr20:256727A/T3.18e-07
exon_skip_35418020251503:251908:256608:256727:257433:257520256608:256727ENST00000360321.2,ENST00000382369.5KICHrs3827147chr20:256727A/T4.73e-05
exon_skip_35418020251503:251908:256608:256727:257433:257520256608:256727ENST00000360321.2,ENST00000382369.5KICHrs3827147chr20:256727A/T4.73e-05
exon_skip_35418020251503:251908:256608:256727:257433:257520256608:256727ENST00000360321.2,ENST00000382369.5KIRPrs3827147chr20:256727A/T7.98e-05
exon_skip_35418020251503:251908:256608:256727:257433:257520256608:256727ENST00000360321.2,ENST00000382369.5KIRPrs3827147chr20:256727A/T7.98e-05
exon_skip_35418020251503:251908:256608:256727:257433:257520256608:256727ENST00000360321.2,ENST00000382369.5KIRPrs3827147chr20:256727A/T9.24e-04
exon_skip_35418020251503:251908:256608:256727:257433:257520256608:256727ENST00000360321.2,ENST00000382369.5KIRPrs3827147chr20:256727A/T9.24e-04
exon_skip_35418020251503:251908:256608:256727:257433:257520256608:256727ENST00000360321.2,ENST00000382369.5LGGrs3827147chr20:256727A/T1.05e-20
exon_skip_35418020251503:251908:256608:256727:257433:257520256608:256727ENST00000360321.2,ENST00000382369.5LGGrs3827147chr20:256727A/T1.06e-20
exon_skip_35418020251503:251908:256608:256727:257433:257520256608:256727ENST00000360321.2,ENST00000382369.5LGGrs3827147chr20:256727A/T1.46e-04
exon_skip_35418020251503:251908:256608:256727:257433:257520256608:256727ENST00000360321.2,ENST00000382369.5LGGrs3827147chr20:256727A/T1.46e-04
exon_skip_35418020251503:251908:256608:256727:257433:257520256608:256727ENST00000360321.2,ENST00000382369.5LGGrs3827147chr20:256727A/T2.63e-04
exon_skip_35418020251503:251908:256608:256727:257433:257520256608:256727ENST00000360321.2,ENST00000382369.5KIRCrs3827147chr20:256727A/T4.53e-09
exon_skip_35418020251503:251908:256608:256727:257433:257520256608:256727ENST00000360321.2,ENST00000382369.5KIRCrs3827147chr20:256727A/T4.53e-09
exon_skip_35418020251503:251908:256608:256727:257433:257520256608:256727ENST00000360321.2,ENST00000382369.5KIRCrs3827147chr20:256727A/T1.45e-06
exon_skip_35418020251503:251908:256608:256727:257433:257520256608:256727ENST00000360321.2,ENST00000382369.5KIRCrs3827147chr20:256727A/T2.42e-06
exon_skip_35418020251503:251908:256608:256727:257433:257520256608:256727ENST00000360321.2,ENST00000382369.5KIRCrs3827147chr20:256727A/T9.92e-05
exon_skip_35418020251503:251908:256608:256727:257433:257520256608:256727ENST00000360321.2,ENST00000382369.5LUADrs3827147chr20:256727A/T5.81e-12
exon_skip_35418020251503:251908:256608:256727:257433:257520256608:256727ENST00000360321.2,ENST00000382369.5LUADrs3827147chr20:256727A/T3.67e-11
exon_skip_35418020251503:251908:256608:256727:257433:257520256608:256727ENST00000360321.2,ENST00000382369.5LIHCrs3827147chr20:256727A/T5.08e-04
exon_skip_35418020251503:251908:256608:256727:257433:257520256608:256727ENST00000360321.2,ENST00000382369.5LIHCrs3827147chr20:256727A/T5.08e-04
exon_skip_35418020251503:251908:256608:256727:257433:257520256608:256727ENST00000360321.2,ENST00000382369.5LUSCrs3827147chr20:256727A/T1.66e-08
exon_skip_35418020251503:251908:256608:256727:257433:257520256608:256727ENST00000360321.2,ENST00000382369.5LUSCrs3827147chr20:256727A/T1.66e-08
exon_skip_35418020251503:251908:256608:256727:257433:257520256608:256727ENST00000360321.2,ENST00000382369.5LUSCrs3827147chr20:256727A/T2.99e-04
exon_skip_35418020251503:251908:256608:256727:257433:257520256608:256727ENST00000360321.2,ENST00000382369.5LUSCrs3827147chr20:256727A/T2.75e-03
exon_skip_35418020251503:251908:256608:256727:257433:257520256608:256727ENST00000360321.2,ENST00000382369.5OVrs3827147chr20:256727A/T1.43e-10
exon_skip_35418020251503:251908:256608:256727:257433:257520256608:256727ENST00000360321.2,ENST00000382369.5OVrs3827147chr20:256727A/T1.43e-10
exon_skip_35418020251503:251908:256608:256727:257433:257520256608:256727ENST00000360321.2,ENST00000382369.5PCPGrs3827147chr20:256727A/T1.33e-09
exon_skip_35418020251503:251908:256608:256727:257433:257520256608:256727ENST00000360321.2,ENST00000382369.5PCPGrs3827147chr20:256727A/T1.33e-09
exon_skip_35418020251503:251908:256608:256727:257433:257520256608:256727ENST00000360321.2,ENST00000382369.5PAADrs3827147chr20:256727A/T5.51e-05
exon_skip_35418020251503:251908:256608:256727:257433:257520256608:256727ENST00000360321.2,ENST00000382369.5PAADrs3827147chr20:256727A/T5.52e-05
exon_skip_35418020251503:251908:256608:256727:257433:257520256608:256727ENST00000360321.2,ENST00000382369.5PRADrs3827147chr20:256727A/T2.92e-11
exon_skip_35418020251503:251908:256608:256727:257433:257520256608:256727ENST00000360321.2,ENST00000382369.5PRADrs3827147chr20:256727A/T2.93e-11
exon_skip_35418020251503:251908:256608:256727:257433:257520256608:256727ENST00000360321.2,ENST00000382369.5PRADrs3827147chr20:256727A/T1.23e-07
exon_skip_35418020251503:251908:256608:256727:257433:257520256608:256727ENST00000360321.2,ENST00000382369.5SARCrs3827147chr20:256727A/T1.89e-05
exon_skip_35418020251503:251908:256608:256727:257433:257520256608:256727ENST00000360321.2,ENST00000382369.5SARCrs3827147chr20:256727A/T1.89e-05
exon_skip_35418020251503:251908:256608:256727:257433:257520256608:256727ENST00000360321.2,ENST00000382369.5THYMrs3827147chr20:256727A/T2.89e-05
exon_skip_35418020251503:251908:256608:256727:257433:257520256608:256727ENST00000360321.2,ENST00000382369.5THYMrs3827147chr20:256727A/T2.89e-05
exon_skip_35418020251503:251908:256608:256727:257433:257520256608:256727ENST00000360321.2,ENST00000382369.5THYMrs3827147chr20:256727A/T3.57e-04
exon_skip_35418020251503:251908:256608:256727:257433:257520256608:256727ENST00000360321.2,ENST00000382369.5THYMrs3827147chr20:256727A/T3.57e-04
exon_skip_35418020251503:251908:256608:256727:257433:257520256608:256727ENST00000360321.2,ENST00000382369.5STADrs3827147chr20:256727A/T3.03e-10
exon_skip_35418020251503:251908:256608:256727:257433:257520256608:256727ENST00000360321.2,ENST00000382369.5STADrs3827147chr20:256727A/T3.03e-10
exon_skip_35418020251503:251908:256608:256727:257433:257520256608:256727ENST00000360321.2,ENST00000382369.5STADrs3827147chr20:256727A/T2.08e-04
exon_skip_35418020251503:251908:256608:256727:257433:257520256608:256727ENST00000360321.2,ENST00000382369.5STADrs3827147chr20:256727A/T4.64e-04
exon_skip_35418020251503:251908:256608:256727:257433:257520256608:256727ENST00000360321.2,ENST00000382369.5THCArs3827147chr20:256727A/T3.46e-11
exon_skip_35418020251503:251908:256608:256727:257433:257520256608:256727ENST00000360321.2,ENST00000382369.5THCArs3827147chr20:256727A/T3.46e-11
exon_skip_35418020251503:251908:256608:256727:257433:257520256608:256727ENST00000360321.2,ENST00000382369.5THCArs3827147chr20:256727A/T1.25e-10
exon_skip_35418020251503:251908:256608:256727:257433:257520256608:256727ENST00000360321.2,ENST00000382369.5THCArs3827147chr20:256727A/T1.25e-10
exon_skip_35418020251503:251908:256608:256727:257433:257520256608:256727ENST00000360321.2,ENST00000382369.5THCArs3827147chr20:256727A/T2.17e-05
exon_skip_35418020251503:251908:256608:256727:257433:257520256608:256727ENST00000360321.2,ENST00000382369.5UVMrs3827147chr20:256727A/T1.30e-04

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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for C20orf96


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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for C20orf96


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RelatedDrugs for C20orf96

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 C20orf96

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