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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 STOX2

check button Gene summary
Gene informationGene symbol

STOX2

Gene ID

56977

Gene namestorkhead box 2
Synonyms-
Cytomap

4q35.1

Type of geneprotein-coding
Descriptionstorkhead-box protein 2
Modification date20180519
UniProtAcc

Q9P2F5

ContextPubMed: STOX2 [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 STOX2 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 STOX2

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 STOX2

check button Information of exkip skipping event in TCGA.
Exon skip IDchrExons involved in exon skippingSkipped exonENSGENSTs
exon_skip_4272104184826508:184828109:184922477:184922630:184930310:184930643184922477:184922630ENSG00000173320.5ENST00000438269.1,ENST00000308497.4
exon_skip_4272134184922477:184922630:184930310:184932576:184938241:184938531184930310:184932576ENSG00000173320.5ENST00000308497.4
exon_skip_4272144184931925:184932576:184932739:184932788:184938241:184938531184932739:184932788ENSG00000173320.5ENST00000506529.1

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

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Exon skipping events with PSIs in GTEx for STOX2

check button Information of exkip skipping event in GTEx
Exon skip IDchrExons involved in exon skippingSkipped exonENSGENSTs
exon_skip_4272104184826508:184828109:184922477:184922630:184930310:184930643184922477:184922630ENSG00000173320.5ENST00000308497.4,ENST00000438269.1
exon_skip_4272134184922477:184922630:184930310:184932576:184938241:184938531184930310:184932576ENSG00000173320.5ENST00000308497.4
exon_skip_4272144184931925:184932576:184932739:184932788:184938241:184938531184932739:184932788ENSG00000173320.5ENST00000506529.1

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 STOX2

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
ENST00000308497184930310184932576Frame-shift
ENST00000308497184922477184922630In-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
ENST00000308497184930310184932576Frame-shift
ENST00000308497184922477184922630In-frame

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Infer the effects of exon skipping event on protein functional features for STOX2

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
ENST00000308497104759261849224771849226301602175455106

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
ENST00000308497104759261849224771849226301602175455106

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
Q9P2F5551061926ChainID=PRO_0000313629;Note=Storkhead-box protein 2


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
Q9P2F5551061926ChainID=PRO_0000313629;Note=Storkhead-box protein 2


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SNVs in the skipped exons for STOX2

check button - Lollipop plot for presenting exon skipping associated SNVs.
* Click on the image to enlarge it in a new window.
lollipop

check button - Differential PSIs between mutated versus non-mutated samples.

check button - Non-synonymous mutations located in the skipped exons in TCGA.
Cancer typeSampleESIDSkipped exon startSkipped exon endMutation startMutation endMutation typeReference seqMutation seqAAchange
LIHCTCGA-G3-A3CJ-01exon_skip_427213
184930311184932576184930410184930410Frame_Shift_DelC-p.T140fs
STADTCGA-BR-8372-01exon_skip_427213
184930311184932576184930544184930545Frame_Shift_DelTG-p.184_185del
STADTCGA-BR-8372-01exon_skip_427213
184930311184932576184930544184930545Frame_Shift_DelTG-p.G184fs
LIHCTCGA-DD-A3A0-01exon_skip_427213
184930311184932576184931770184931770Frame_Shift_DelA-p.T593fs
KIRPTCGA-BQ-7048-01exon_skip_427213
184930311184932576184931856184931856Frame_Shift_DelA-p.E622fs
LIHCTCGA-DD-A3A0-01exon_skip_427213
184930311184932576184932187184932187Frame_Shift_DelT-p.A732fs
LIHCTCGA-DD-A1EG-01exon_skip_427213
184930311184932576184932371184932371Frame_Shift_DelA-p.K794fs
LIHCTCGA-DD-A39Y-01exon_skip_427213
184930311184932576184932371184932371Frame_Shift_DelA-p.K794fs
COADTCGA-AA-3713-01exon_skip_427213
184930311184932576184930779184930780Frame_Shift_Ins-Ap.S263fs
COADTCGA-CM-4746-01exon_skip_427213
184930311184932576184930779184930780Frame_Shift_Ins-Ap.S263fs
LIHCTCGA-BC-A112-01exon_skip_427213
184930311184932576184931964184931965Frame_Shift_Ins-Ap.Q658fs
CESCTCGA-EA-A3HU-01exon_skip_427214
184932740184932788184932745184932746Frame_Shift_Ins-Ap.*865fs
THCATCGA-4C-A93U-01exon_skip_427210
184922478184922630184922519184922519Nonsense_MutationCTp.Q70*
SKCMTCGA-D9-A4Z3-01exon_skip_427213
184930311184932576184930856184930856Nonsense_MutationCTp.Q289*
PRADTCGA-ZG-A9L5-01exon_skip_427213
184930311184932576184930876184930876Nonsense_MutationGAp.W295*
UCECTCGA-D1-A103-01exon_skip_427213
184930311184932576184931234184931234Nonsense_MutationGTp.E415*
SKCMTCGA-FR-A69P-06exon_skip_427213
184930311184932576184931615184931615Nonsense_MutationCTp.Q542*
SKCMTCGA-FR-A69P-06exon_skip_427213
184930311184932576184931615184931615Nonsense_MutationCTp.Q542X
UCECTCGA-A5-A0G9-01exon_skip_427213
184930311184932576184932195184932195Nonsense_MutationTAp.L735*

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
DND41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE184930311184932576184930780184930780Frame_Shift_DelA-p.S263fs
HEC265_ENDOMETRIUM184930311184932576184931587184931587Frame_Shift_DelT-p.T532fs
CTV1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE184930311184932576184931978184931978Frame_Shift_DelG-p.G664fs
LIM1215_LARGE_INTESTINE184930311184932576184931978184931978Frame_Shift_DelG-p.G664fs
DV90_LUNG184930311184932576184932361184932362Frame_Shift_DelAG-p.E793fs
EN_ENDOMETRIUM184930311184932576184930779184930780Frame_Shift_Ins-Ap.SK263fs
LOVO_LARGE_INTESTINE184930311184932576184930335184930335Missense_MutationTCp.I115T
HPBALL_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE184930311184932576184930364184930364Missense_MutationCTp.R125W
SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE184930311184932576184930380184930380Missense_MutationAGp.Y130C
HEC6_ENDOMETRIUM184930311184932576184930481184930481Missense_MutationAGp.I164V
NCIH1573_LUNG184930311184932576184930509184930509Missense_MutationCTp.P173L
PCI30_UPPER_AERODIGESTIVE_TRACT184930311184932576184930569184930569Missense_MutationGAp.R193Q
MC116_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE184930311184932576184930613184930613Missense_MutationAGp.S208G
MM383_SKIN184930311184932576184930731184930731Missense_MutationCTp.S247F
HCC2998_LARGE_INTESTINE184930311184932576184930770184930770Missense_MutationAGp.E260G
CW2_LARGE_INTESTINE184930311184932576184930787184930787Missense_MutationTAp.F266I
SNU719_STOMACH184930311184932576184930989184930989Missense_MutationTCp.L333P
DG75_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE184930311184932576184931049184931049Missense_MutationAGp.H353R
MZ2MEL_SKIN184930311184932576184931132184931132Missense_MutationGCp.G381R
SNU81_LARGE_INTESTINE184930311184932576184931186184931186Missense_MutationTGp.F399V
HEC251_ENDOMETRIUM184930311184932576184931214184931214Missense_MutationGTp.R408M
KCL22_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE184930311184932576184931265184931265Missense_MutationGAp.S425N
HS604T_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE184930311184932576184931289184931289Missense_MutationAGp.H433R
LS411N_LARGE_INTESTINE184930311184932576184931411184931411Missense_MutationAGp.T474A
TE9_OESOPHAGUS184930311184932576184931421184931421Missense_MutationGAp.R477Q
MFE296_ENDOMETRIUM184930311184932576184931455184931455Missense_MutationGTp.K488N
SNGM_ENDOMETRIUM184930311184932576184931640184931640Missense_MutationGTp.S550I
SNU1040_LARGE_INTESTINE184930311184932576184931738184931738Missense_MutationCTp.P583S
NCIH1581_LUNG184930311184932576184931896184931896Missense_MutationGTp.K635N
NCIH2077_LUNG184930311184932576184931896184931896Missense_MutationGTp.K635N
HEC151_ENDOMETRIUM184930311184932576184931987184931987Missense_MutationGAp.A666T
SUPHD1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE184930311184932576184932023184932023Missense_MutationGAp.G678R
BEN_LUNG184930311184932576184932047184932047Missense_MutationGTp.A686S
SNU1040_LARGE_INTESTINE184930311184932576184932266184932266Missense_MutationCTp.R759C
HEC251_ENDOMETRIUM184930311184932576184932300184932300Missense_MutationCAp.S770Y
FADU_UPPER_AERODIGESTIVE_TRACT184930311184932576184932300184932300Missense_MutationCTp.S770F
MKN74_STOMACH184930311184932576184932331184932331Missense_MutationCAp.D780E
MKN28_STOMACH184930311184932576184932331184932331Missense_MutationCAp.D780E
PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE184930311184932576184932342184932342Missense_MutationAGp.E784G
CL40_LARGE_INTESTINE184930311184932576184932386184932386Missense_MutationGAp.V799I
LS180_LARGE_INTESTINE184930311184932576184932427184932427Missense_MutationACp.R812S
C2BBE1_LARGE_INTESTINE184930311184932576184932507184932507Missense_MutationCAp.T839N
PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE184930311184932576184932403184932403Nonsense_MutationGAp.W804*

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for STOX2

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 STOX2


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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for STOX2


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RelatedDrugs for STOX2

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 STOX2

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