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Open reading frame (ORF) annotation in the exon skipping event | |
Splicing Quantitative Trait Loci (sQTLs) in the skipped exons | |
Splicing Quantitative Trait Methylation (sQTM) in the skipped exon | |
Gene summary for STOX2 |
Gene summary |
Gene information | Gene symbol | STOX2 | Gene ID | 56977 |
Gene name | storkhead box 2 | |
Synonyms | - | |
Cytomap | 4q35.1 | |
Type of gene | protein-coding | |
Description | storkhead-box protein 2 | |
Modification date | 20180519 | |
UniProtAcc | Q9P2F5 | |
Context | PubMed: STOX2 [Title/Abstract] AND exon [Title/Abstract] AND skip [Title/Abstract] - Title (PMID) |
Gene ontology of each this gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
Gene | GO ID | GO term | PubMed ID |
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Exon skipping events across known transcript of Ensembl for STOX2 from UCSC genome browser |
Skipped 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. |
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Gene isoform structures and expression levels for STOX2 |
Expression levels of gene isoforms across TCGA. |
Expression levels of gene isoforms across GTEx. |
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Exon skipping events with PSIs in TCGA for STOX2 |
Information of exkip skipping event in TCGA. |
Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
exon_skip_427210 | 4 | 184826508:184828109:184922477:184922630:184930310:184930643 | 184922477:184922630 | ENSG00000173320.5 | ENST00000438269.1,ENST00000308497.4 |
exon_skip_427213 | 4 | 184922477:184922630:184930310:184932576:184938241:184938531 | 184930310:184932576 | ENSG00000173320.5 | ENST00000308497.4 |
exon_skip_427214 | 4 | 184931925:184932576:184932739:184932788:184938241:184938531 | 184932739:184932788 | ENSG00000173320.5 | ENST00000506529.1 |
PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for STOX2 |
Information of exkip skipping event in GTEx |
Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
exon_skip_427210 | 4 | 184826508:184828109:184922477:184922630:184930310:184930643 | 184922477:184922630 | ENSG00000173320.5 | ENST00000308497.4,ENST00000438269.1 |
exon_skip_427213 | 4 | 184922477:184922630:184930310:184932576:184938241:184938531 | 184930310:184932576 | ENSG00000173320.5 | ENST00000308497.4 |
exon_skip_427214 | 4 | 184931925:184932576:184932739:184932788:184938241:184938531 | 184932739:184932788 | ENSG00000173320.5 | ENST00000506529.1 |
PSI values of skipped exons in GTEx. |
* Skipped exon sequences. |
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Open reading frame (ORF) annotation in the exon skipping event for STOX2 |
Open reading frame (ORF) of individual exon skipping events in TCGA based on the Ensembl gene structure combined from isoforms. |
ENST | Start of skipped exon | End of skipped exon | ORF |
ENST00000308497 | 184930310 | 184932576 | Frame-shift |
ENST00000308497 | 184922477 | 184922630 | In-frame |
Open reading frame (ORF) of individual exon skipping events in GTEx based on the Ensembl gene structure combined from isoforms. |
ENST | Start of skipped exon | End of skipped exon | ORF |
ENST00000308497 | 184930310 | 184932576 | Frame-shift |
ENST00000308497 | 184922477 | 184922630 | In-frame |
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Infer the effects of exon skipping event on protein functional features for STOX2 |
Exon skipping at the protein sequence level and followed lost functional features. * Click on the image to enlarge it in a new window. |
Loci of skipped exons in TCGA across genomic, transcript, and protein sequence levels of In-frame cases. |
ENST | Length of mRNA | Length of AA seq. | Genomic start | Genomic end | mRNA start | mRNA end | AA start | AA end |
ENST00000308497 | 10475 | 926 | 184922477 | 184922630 | 1602 | 1754 | 55 | 106 |
Loci of skipped exons in GTEx across genomic, transcript, and protein sequence levels of In-frame cases. |
ENST | Length of mRNA | Length of AA seq. | Genomic start | Genomic end | mRNA start | mRNA end | AA start | AA end |
ENST00000308497 | 10475 | 926 | 184922477 | 184922630 | 1602 | 1754 | 55 | 106 |
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 feature | Description of feature |
Q9P2F5 | 55 | 106 | 1 | 926 | Chain | ID=PRO_0000313629;Note=Storkhead-box protein 2 |
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 feature | Description of feature |
Q9P2F5 | 55 | 106 | 1 | 926 | Chain | ID=PRO_0000313629;Note=Storkhead-box protein 2 |
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SNVs in the skipped exons for STOX2 |
- Lollipop plot for presenting exon skipping associated SNVs. * Click on the image to enlarge it in a new window. |
- Differential PSIs between mutated versus non-mutated samples. |
- Non-synonymous mutations located in the skipped exons in TCGA. |
Cancer type | Sample | ESID | Skipped exon start | Skipped exon end | Mutation start | Mutation end | Mutation type | Reference seq | Mutation seq | AAchange |
LIHC | TCGA-G3-A3CJ-01 | exon_skip_427213 | 184930311 | 184932576 | 184930410 | 184930410 | Frame_Shift_Del | C | - | p.T140fs |
STAD | TCGA-BR-8372-01 | exon_skip_427213 | 184930311 | 184932576 | 184930544 | 184930545 | Frame_Shift_Del | TG | - | p.184_185del |
STAD | TCGA-BR-8372-01 | exon_skip_427213 | 184930311 | 184932576 | 184930544 | 184930545 | Frame_Shift_Del | TG | - | p.G184fs |
LIHC | TCGA-DD-A3A0-01 | exon_skip_427213 | 184930311 | 184932576 | 184931770 | 184931770 | Frame_Shift_Del | A | - | p.T593fs |
KIRP | TCGA-BQ-7048-01 | exon_skip_427213 | 184930311 | 184932576 | 184931856 | 184931856 | Frame_Shift_Del | A | - | p.E622fs |
LIHC | TCGA-DD-A3A0-01 | exon_skip_427213 | 184930311 | 184932576 | 184932187 | 184932187 | Frame_Shift_Del | T | - | p.A732fs |
LIHC | TCGA-DD-A1EG-01 | exon_skip_427213 | 184930311 | 184932576 | 184932371 | 184932371 | Frame_Shift_Del | A | - | p.K794fs |
LIHC | TCGA-DD-A39Y-01 | exon_skip_427213 | 184930311 | 184932576 | 184932371 | 184932371 | Frame_Shift_Del | A | - | p.K794fs |
COAD | TCGA-AA-3713-01 | exon_skip_427213 | 184930311 | 184932576 | 184930779 | 184930780 | Frame_Shift_Ins | - | A | p.S263fs |
COAD | TCGA-CM-4746-01 | exon_skip_427213 | 184930311 | 184932576 | 184930779 | 184930780 | Frame_Shift_Ins | - | A | p.S263fs |
LIHC | TCGA-BC-A112-01 | exon_skip_427213 | 184930311 | 184932576 | 184931964 | 184931965 | Frame_Shift_Ins | - | A | p.Q658fs |
CESC | TCGA-EA-A3HU-01 | exon_skip_427214 | 184932740 | 184932788 | 184932745 | 184932746 | Frame_Shift_Ins | - | A | p.*865fs |
THCA | TCGA-4C-A93U-01 | exon_skip_427210 | 184922478 | 184922630 | 184922519 | 184922519 | Nonsense_Mutation | C | T | p.Q70* |
SKCM | TCGA-D9-A4Z3-01 | exon_skip_427213 | 184930311 | 184932576 | 184930856 | 184930856 | Nonsense_Mutation | C | T | p.Q289* |
PRAD | TCGA-ZG-A9L5-01 | exon_skip_427213 | 184930311 | 184932576 | 184930876 | 184930876 | Nonsense_Mutation | G | A | p.W295* |
UCEC | TCGA-D1-A103-01 | exon_skip_427213 | 184930311 | 184932576 | 184931234 | 184931234 | Nonsense_Mutation | G | T | p.E415* |
SKCM | TCGA-FR-A69P-06 | exon_skip_427213 | 184930311 | 184932576 | 184931615 | 184931615 | Nonsense_Mutation | C | T | p.Q542* |
SKCM | TCGA-FR-A69P-06 | exon_skip_427213 | 184930311 | 184932576 | 184931615 | 184931615 | Nonsense_Mutation | C | T | p.Q542X |
UCEC | TCGA-A5-A0G9-01 | exon_skip_427213 | 184930311 | 184932576 | 184932195 | 184932195 | Nonsense_Mutation | T | A | p.L735* |
- Depth of coverage in the three exons composing exon skipping event |
Depth of coverage in three exons | Mutation description |
- Non-synonymous mutations located in the skipped exons in CCLE. |
Sample | Skipped exon start | Skipped exon end | Mutation start | Mutation end | Mutation type | Reference seq | Mutation seq | AAchange |
DND41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 184930311 | 184932576 | 184930780 | 184930780 | Frame_Shift_Del | A | - | p.S263fs |
HEC265_ENDOMETRIUM | 184930311 | 184932576 | 184931587 | 184931587 | Frame_Shift_Del | T | - | p.T532fs |
CTV1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 184930311 | 184932576 | 184931978 | 184931978 | Frame_Shift_Del | G | - | p.G664fs |
LIM1215_LARGE_INTESTINE | 184930311 | 184932576 | 184931978 | 184931978 | Frame_Shift_Del | G | - | p.G664fs |
DV90_LUNG | 184930311 | 184932576 | 184932361 | 184932362 | Frame_Shift_Del | AG | - | p.E793fs |
EN_ENDOMETRIUM | 184930311 | 184932576 | 184930779 | 184930780 | Frame_Shift_Ins | - | A | p.SK263fs |
LOVO_LARGE_INTESTINE | 184930311 | 184932576 | 184930335 | 184930335 | Missense_Mutation | T | C | p.I115T |
HPBALL_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 184930311 | 184932576 | 184930364 | 184930364 | Missense_Mutation | C | T | p.R125W |
SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 184930311 | 184932576 | 184930380 | 184930380 | Missense_Mutation | A | G | p.Y130C |
HEC6_ENDOMETRIUM | 184930311 | 184932576 | 184930481 | 184930481 | Missense_Mutation | A | G | p.I164V |
NCIH1573_LUNG | 184930311 | 184932576 | 184930509 | 184930509 | Missense_Mutation | C | T | p.P173L |
PCI30_UPPER_AERODIGESTIVE_TRACT | 184930311 | 184932576 | 184930569 | 184930569 | Missense_Mutation | G | A | p.R193Q |
MC116_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 184930311 | 184932576 | 184930613 | 184930613 | Missense_Mutation | A | G | p.S208G |
MM383_SKIN | 184930311 | 184932576 | 184930731 | 184930731 | Missense_Mutation | C | T | p.S247F |
HCC2998_LARGE_INTESTINE | 184930311 | 184932576 | 184930770 | 184930770 | Missense_Mutation | A | G | p.E260G |
CW2_LARGE_INTESTINE | 184930311 | 184932576 | 184930787 | 184930787 | Missense_Mutation | T | A | p.F266I |
SNU719_STOMACH | 184930311 | 184932576 | 184930989 | 184930989 | Missense_Mutation | T | C | p.L333P |
DG75_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 184930311 | 184932576 | 184931049 | 184931049 | Missense_Mutation | A | G | p.H353R |
MZ2MEL_SKIN | 184930311 | 184932576 | 184931132 | 184931132 | Missense_Mutation | G | C | p.G381R |
SNU81_LARGE_INTESTINE | 184930311 | 184932576 | 184931186 | 184931186 | Missense_Mutation | T | G | p.F399V |
HEC251_ENDOMETRIUM | 184930311 | 184932576 | 184931214 | 184931214 | Missense_Mutation | G | T | p.R408M |
KCL22_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 184930311 | 184932576 | 184931265 | 184931265 | Missense_Mutation | G | A | p.S425N |
HS604T_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 184930311 | 184932576 | 184931289 | 184931289 | Missense_Mutation | A | G | p.H433R |
LS411N_LARGE_INTESTINE | 184930311 | 184932576 | 184931411 | 184931411 | Missense_Mutation | A | G | p.T474A |
TE9_OESOPHAGUS | 184930311 | 184932576 | 184931421 | 184931421 | Missense_Mutation | G | A | p.R477Q |
MFE296_ENDOMETRIUM | 184930311 | 184932576 | 184931455 | 184931455 | Missense_Mutation | G | T | p.K488N |
SNGM_ENDOMETRIUM | 184930311 | 184932576 | 184931640 | 184931640 | Missense_Mutation | G | T | p.S550I |
SNU1040_LARGE_INTESTINE | 184930311 | 184932576 | 184931738 | 184931738 | Missense_Mutation | C | T | p.P583S |
NCIH1581_LUNG | 184930311 | 184932576 | 184931896 | 184931896 | Missense_Mutation | G | T | p.K635N |
NCIH2077_LUNG | 184930311 | 184932576 | 184931896 | 184931896 | Missense_Mutation | G | T | p.K635N |
HEC151_ENDOMETRIUM | 184930311 | 184932576 | 184931987 | 184931987 | Missense_Mutation | G | A | p.A666T |
SUPHD1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 184930311 | 184932576 | 184932023 | 184932023 | Missense_Mutation | G | A | p.G678R |
BEN_LUNG | 184930311 | 184932576 | 184932047 | 184932047 | Missense_Mutation | G | T | p.A686S |
SNU1040_LARGE_INTESTINE | 184930311 | 184932576 | 184932266 | 184932266 | Missense_Mutation | C | T | p.R759C |
HEC251_ENDOMETRIUM | 184930311 | 184932576 | 184932300 | 184932300 | Missense_Mutation | C | A | p.S770Y |
FADU_UPPER_AERODIGESTIVE_TRACT | 184930311 | 184932576 | 184932300 | 184932300 | Missense_Mutation | C | T | p.S770F |
MKN74_STOMACH | 184930311 | 184932576 | 184932331 | 184932331 | Missense_Mutation | C | A | p.D780E |
MKN28_STOMACH | 184930311 | 184932576 | 184932331 | 184932331 | Missense_Mutation | C | A | p.D780E |
PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 184930311 | 184932576 | 184932342 | 184932342 | Missense_Mutation | A | G | p.E784G |
CL40_LARGE_INTESTINE | 184930311 | 184932576 | 184932386 | 184932386 | Missense_Mutation | G | A | p.V799I |
LS180_LARGE_INTESTINE | 184930311 | 184932576 | 184932427 | 184932427 | Missense_Mutation | A | C | p.R812S |
C2BBE1_LARGE_INTESTINE | 184930311 | 184932576 | 184932507 | 184932507 | Missense_Mutation | C | A | p.T839N |
PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 184930311 | 184932576 | 184932403 | 184932403 | Nonsense_Mutation | G | A | p.W804* |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for STOX2 |
sQTL information located at the skipped exons. |
Exon skip ID | Chromosome | Three exons | Skippped exon | ENST | Cancer type | SNP id | Location | DNA 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 |
Approved drugs targeting this gene. (DrugBank Version 5.1.0 2018-04-02) |
Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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RelatedDiseases for STOX2 |
Diseases associated with this gene. (DisGeNet 4.0) |
Gene | Disease ID | Disease name | # pubmeds | Source |