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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 SKIL

check button Gene summary
Gene informationGene symbol

SKIL

Gene ID

6498

Gene nameSKI like proto-oncogene
SynonymsSNO|SnoA|SnoI|SnoN
Cytomap

3q26.2

Type of geneprotein-coding
Descriptionski-like proteinSKI-like oncogeneski-related oncogene snoN
Modification date20180523
UniProtAcc

P12757

ContextPubMed: SKIL [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 SKIL 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 SKIL

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 SKIL

check button Information of exkip skipping event in TCGA.
Exon skip IDchrExons involved in exon skippingSkipped exonENSGENSTs
exon_skip_3793983170075521:170075551:170077486:170079217:170099031:170099129170077486:170079217ENSG00000136603.9ENST00000259119.4
exon_skip_3794003170078999:170079217:170099031:170099129:170102320:170102415170099031:170099129ENSG00000136603.9ENST00000259119.4,ENST00000426052.2,ENST00000458537.3,ENST00000413427.2
exon_skip_3794043170099063:170099129:170102320:170102415:170108010:170108252170102320:170102415ENSG00000136603.9ENST00000413427.2
exon_skip_3794053170099063:170099129:170102320:170102553:170108010:170108252170102320:170102553ENSG00000136603.9ENST00000259119.4,ENST00000426052.2,ENST00000458537.3

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

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Exon skipping events with PSIs in GTEx for SKIL

check button Information of exkip skipping event in GTEx
Exon skip IDchrExons involved in exon skippingSkipped exonENSGENSTs
exon_skip_3793983170075521:170075551:170077486:170079217:170099031:170099129170077486:170079217ENSG00000136603.9ENST00000259119.4
exon_skip_3794003170078999:170079217:170099031:170099129:170102320:170102415170099031:170099129ENSG00000136603.9ENST00000259119.4,ENST00000426052.2,ENST00000413427.2,ENST00000458537.3
exon_skip_3794043170099063:170099129:170102320:170102415:170108010:170108252170102320:170102415ENSG00000136603.9ENST00000413427.2
exon_skip_3794053170099063:170099129:170102320:170102553:170108010:170108252170102320:170102553ENSG00000136603.9ENST00000259119.4,ENST00000426052.2,ENST00000458537.3
exon_skip_3794083170099063:170099129:170108010:170108252:170108823:170108975170108010:170108252ENSG00000136603.9ENST00000470571.1

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 SKIL

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
ENST000002591191700774861700792175CDS-5UTR
ENST00000259119170099031170099129Frame-shift
ENST00000458537170099031170099129Frame-shift
ENST00000259119170102320170102553Frame-shift
ENST00000458537170102320170102553Frame-shift

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
ENST000002591191700774861700792175CDS-5UTR
ENST00000259119170099031170099129Frame-shift
ENST00000458537170099031170099129Frame-shift
ENST00000259119170102320170102553Frame-shift
ENST00000458537170102320170102553Frame-shift

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

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

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

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 SKIL

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
MESOTCGA-UT-A88G-01exon_skip_379398
170077487170079217170078130170078140Frame_Shift_DelTCCAGACAAAT-p.LQTN4fs
LIHCTCGA-G3-A3CJ-01exon_skip_379398
170077487170079217170078165170078165Frame_Shift_DelA-p.K17fs
STADTCGA-CD-A4MI-01exon_skip_379398
170077487170079217170078165170078165Frame_Shift_DelA-p.T15fs
LIHCTCGA-DD-A39Y-01exon_skip_379398
170077487170079217170078197170078197Frame_Shift_DelC-p.S26fs
LIHCTCGA-DD-A1EG-01exon_skip_379398
170077487170079217170078207170078207Frame_Shift_DelA-p.K31fs
LIHCTCGA-DD-A39Y-01exon_skip_379398
170077487170079217170078207170078207Frame_Shift_DelA-p.K31fs
LIHCTCGA-DD-A39Y-01exon_skip_379398
170077487170079217170078300170078300Frame_Shift_DelC-p.P61fs
LIHCTCGA-DD-A1EG-01exon_skip_379398
170077487170079217170078515170078515Frame_Shift_DelC-p.G132fs
LIHCTCGA-G3-A3CJ-01exon_skip_379405
170102321170102553170102467170102467Frame_Shift_DelA-p.Q448fs
KIRCTCGA-A3-A8OW-01exon_skip_379398
170077487170079217170078929170078930Frame_Shift_Ins-Ap.G270fs
STADTCGA-CG-4305-01exon_skip_379405
170102321170102553170102466170102467Frame_Shift_Ins-Ap.Q448fs
STADTCGA-HF-7132-01exon_skip_379405
170102321170102553170102466170102467Frame_Shift_Ins-Ap.Q448fs
STADTCGA-CG-4305-01exon_skip_379405
170102321170102553170102467170102468Frame_Shift_Ins-Ap.Q448fs
UCECTCGA-D1-A17Q-01exon_skip_379398
170077487170079217170078546170078546Nonsense_MutationGTp.E143*
LUADTCGA-55-A4DF-01exon_skip_379398
170077487170079217170078703170078703Nonsense_MutationCGp.S195*
CESCTCGA-JW-A5VL-01exon_skip_379398
170077487170079217170079084170079084Nonsense_MutationCGp.S322*
BLCATCGA-DK-A6AW-01exon_skip_379398
170077487170079217170079094170079094Nonsense_MutationGAp.W325*
BLCATCGA-BT-A42B-01exon_skip_379400
170099032170099129170099114170099114Nonsense_MutationCGp.S394*

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
AN3CA_ENDOMETRIUM170077487170079217170078197170078197Frame_Shift_DelC-p.S26fs
SNU175_LARGE_INTESTINE170077487170079217170078207170078207Frame_Shift_DelA-p.K31fs
SUDHL8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE170077487170079217170078673170078673Frame_Shift_DelC-p.T185fs
BICR18_UPPER_AERODIGESTIVE_TRACT170077487170079217170078740170078740Frame_Shift_DelA-p.V207fs
BICR18_UPPER_AERODIGESTIVE_TRACT170077487170079217170078746170078746Frame_Shift_DelC-p.G209fs
NCIH82_LUNG170077487170079217170078825170078825Frame_Shift_DelC-p.P236fs
BICR18_UPPER_AERODIGESTIVE_TRACT170077487170079217170078742170078743Frame_Shift_Ins-TAp.G209fs
M980513_SKIN170077487170079217170078198170078198Missense_MutationCTp.P27S
SKMEL28_SKIN170077487170079217170078223170078223Missense_MutationAGp.D35G
CCK81_LARGE_INTESTINE170077487170079217170078229170078229Missense_MutationACp.H37P
UBLC1_URINARY_TRACT170077487170079217170078255170078255Missense_MutationGAp.V46M
SUPT11_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE170077487170079217170078255170078255Missense_MutationGAp.V46M
RKO_LARGE_INTESTINE170077487170079217170078256170078256Missense_MutationTCp.V46A
HEC251_ENDOMETRIUM170077487170079217170078365170078365Missense_MutationACp.L82F
HCC2450_LUNG170077487170079217170078501170078501Missense_MutationCGp.Q128E
COLO680N_OESOPHAGUS170077487170079217170078507170078507Missense_MutationCGp.L130V
HCC2998_LARGE_INTESTINE170077487170079217170078634170078634Missense_MutationAGp.N172S
MOLT4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE170077487170079217170078765170078765Missense_MutationCAp.P216T
SNU1040_LARGE_INTESTINE170077487170079217170078822170078822Missense_MutationCTp.R235W
A388_SKIN170077487170079217170078862170078862Missense_MutationCTp.A248V
MZ7MEL_SKIN170077487170079217170078895170078895Missense_MutationGAp.G259D
KYSE270_OESOPHAGUS170077487170079217170078978170078978Missense_MutationCTp.P287S
HEYA8_OVARY170077487170079217170079018170079018Missense_MutationCTp.P300L
HEY_OVARY170077487170079217170079018170079018Missense_MutationCTp.P300L
CW2_LARGE_INTESTINE170077487170079217170079066170079066Missense_MutationGAp.C316Y
UACC812_BREAST170077487170079217170079128170079128Missense_MutationGAp.G337R
HCC2998_LARGE_INTESTINE170077487170079217170079145170079145Missense_MutationGTp.K342N
HT55_LARGE_INTESTINE170077487170079217170079163170079163Missense_MutationATp.L348F
MERO41_LUNG170077487170079217170079170170079170Missense_MutationACp.M351L
SNU324_PANCREAS170077487170079217170079182170079182Missense_MutationTGp.F355V
HCC2998_LARGE_INTESTINE170077487170079217170079206170079206Missense_MutationAGp.N363D
HEC251_ENDOMETRIUM170099032170099129170099048170099048Missense_MutationGTp.G372V
MOLT4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE170099032170099129170099074170099074Missense_MutationGTp.V381F
SNU1040_LARGE_INTESTINE170099032170099129170099086170099086Missense_MutationGAp.E385K
HCC15_LUNG170102321170102415170102376170102376Missense_MutationGTp.A418S
HCC15_LUNG170102321170102553170102376170102376Missense_MutationGTp.A418S
NOS1_BONE170102321170102553170102508170102508Missense_MutationGCp.E462Q
TE15_OESOPHAGUS170077487170079217170078703170078703Nonsense_MutationCGp.S195*
NCIH854_LUNG170077487170079217170079217170079218Splice_Site-Ap.T367fs

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

check button sQTL information located at the skipped exons.
Exon skip IDChromosomeThree exonsSkippped exonENSTCancer typeSNP idLocationDNA change (ref/var)P-value
exon_skip_3793983170075521:170075551:170077486:170079217:170099031:170099129170077486:170079217ENST00000259119.4COADrs3772173chr3:170078232C/T9.22e-04
exon_skip_3793983170075521:170075551:170077486:170079217:170099031:170099129170077486:170079217ENST00000259119.4THCArs3772173chr3:170078232C/T1.68e-03

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


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


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RelatedDrugs for SKIL

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 SKIL

check button Diseases associated with this gene.
(DisGeNet 4.0)
GeneDisease IDDisease name# pubmedsSource
SKILC0034069Pulmonary Fibrosis1CTD_human
SKILC0037274Dermatologic disorders1CTD_human
SKILC0311375Arsenic Poisoning1CTD_human
SKILC2931434Paraquat lung1CTD_human