|
||||||
|
 | |
| |
| |
| |
| 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 STOX1 |
 Gene summary |
| Gene information | Gene symbol | STOX1 | Gene ID | 219736 |
| Gene name | storkhead box 1 | |
| Synonyms | C10orf24 | |
| Cytomap | 10q22.1 | |
| Type of gene | protein-coding | |
| Description | storkhead-box protein 1winged-helix domain-containing protein | |
| Modification date | 20180519 | |
| UniProtAcc | Q6ZVD7 | |
| Context | PubMed: STOX1 [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 |
Top |
Exon skipping events across known transcript of Ensembl for STOX1 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. |
 |
Top |
Gene isoform structures and expression levels for STOX1 |
| Expression levels of gene isoforms across TCGA. |
 |
| Expression levels of gene isoforms across GTEx. |
 |
Top |
Exon skipping events with PSIs in TCGA for STOX1 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_41855 | 10 | 70641713:70641866:70644015:70644215:70652344:70652529 | 70644015:70644215 | ENSG00000165730.10 | ENST00000399165.4 |
| exon_skip_41857 | 10 | 70641713:70641866:70644015:70646374:70652344:70652529 | 70644015:70646374 | ENSG00000165730.10 | ENST00000421961.2,ENST00000399169.4,ENST00000298596.6 |
| PSI values of skipped exons in TCGA. |
 |
Top |
Exon skipping events with PSIs in GTEx for STOX1 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_41855 | 10 | 70641713:70641866:70644015:70644215:70652344:70652529 | 70644015:70644215 | ENSG00000165730.10 | ENST00000399165.4 |
| exon_skip_41857 | 10 | 70641713:70641866:70644015:70646374:70652344:70652529 | 70644015:70646374 | ENSG00000165730.10 | ENST00000298596.6,ENST00000399169.4,ENST00000421961.2 |
| PSI values of skipped exons in GTEx. |
 |
| * Skipped exon sequences. |
Top |
Open reading frame (ORF) annotation in the exon skipping event for STOX1 |
| 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 |
| ENST00000298596 | 70644015 | 70646374 | Frame-shift |
| ENST00000399169 | 70644015 | 70646374 | Frame-shift |
| 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 |
| ENST00000298596 | 70644015 | 70646374 | Frame-shift |
| ENST00000399169 | 70644015 | 70646374 | Frame-shift |
Top |
Infer the effects of exon skipping event on protein functional features for STOX1 |
| 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 |
| 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 |
| 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 |
| 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 |
Top |
SNVs in the skipped exons for STOX1 |
| - 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-DD-A3A0-01 | exon_skip_41857 | 70644016 | 70646374 | 70644259 | 70644259 | Frame_Shift_Del | C | - | p.A236fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_41857 | 70644016 | 70646374 | 70644259 | 70644259 | Frame_Shift_Del | C | - | p.A236fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_41857 | 70644016 | 70646374 | 70644469 | 70644469 | Frame_Shift_Del | A | - | p.E306fs |
| LUAD | TCGA-MP-A4T4-01 | exon_skip_41857 | 70644016 | 70646374 | 70644800 | 70644800 | Frame_Shift_Del | G | - | p.Q416fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_41857 | 70644016 | 70646374 | 70645020 | 70645020 | Frame_Shift_Del | A | - | p.K491fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_41857 | 70644016 | 70646374 | 70645049 | 70645049 | Frame_Shift_Del | T | - | p.G499fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_41857 | 70644016 | 70646374 | 70645049 | 70645049 | Frame_Shift_Del | T | - | p.G499fs |
| KIRP | TCGA-DZ-6132-01 | exon_skip_41857 | 70644016 | 70646374 | 70645179 | 70645179 | Frame_Shift_Del | T | - | p.F543fs |
| KIRP | TCGA-DZ-6132-01 | exon_skip_41857 | 70644016 | 70646374 | 70645179 | 70645179 | Frame_Shift_Del | T | - | p.I542fs |
| CHOL | TCGA-ZD-A8I3-01 | exon_skip_41857 | 70644016 | 70646374 | 70645255 | 70645259 | Frame_Shift_Del | ACCCT | - | p.568_569del |
| CHOL | TCGA-ZD-A8I3-01 | exon_skip_41857 | 70644016 | 70646374 | 70645255 | 70645259 | Frame_Shift_Del | ACCCT | - | p.DP568fs |
| COAD | TCGA-D5-6540-01 | exon_skip_41857 | 70644016 | 70646374 | 70645390 | 70645390 | Frame_Shift_Del | A | - | p.E613fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_41857 | 70644016 | 70646374 | 70645678 | 70645678 | Frame_Shift_Del | A | - | p.E709fs |
| LUAD | TCGA-86-8585-01 | exon_skip_41857 | 70644016 | 70646374 | 70645962 | 70645962 | Frame_Shift_Del | G | - | p.G804fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_41857 | 70644016 | 70646374 | 70646076 | 70646076 | Frame_Shift_Del | A | - | p.K842fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_41857 | 70644016 | 70646374 | 70646243 | 70646243 | Frame_Shift_Del | C | - | p.F897fs |
| LIHC | TCGA-BC-A112-01 | exon_skip_41857 | 70644016 | 70646374 | 70645418 | 70645419 | Frame_Shift_Ins | - | A | p.RK622fs |
| LUAD | TCGA-35-5375-01 | exon_skip_41857 | 70644016 | 70646374 | 70645895 | 70645896 | Frame_Shift_Ins | - | T | p.EQ781fs |
| GBM | TCGA-19-5959-01 | exon_skip_41855 | 70644016 | 70644215 | 70644150 | 70644150 | Nonsense_Mutation | C | T | p.Q200* |
| GBM | TCGA-19-5959-01 | exon_skip_41857 | 70644016 | 70646374 | 70644150 | 70644150 | Nonsense_Mutation | C | T | p.Q200* |
| STAD | TCGA-BR-4361-01 | exon_skip_41857 | 70644016 | 70646374 | 70644585 | 70644585 | Nonsense_Mutation | C | T | p.R345* |
| SKCM | TCGA-WE-A8ZX-06 | exon_skip_41857 | 70644016 | 70646374 | 70644615 | 70644615 | Nonsense_Mutation | C | T | p.R355* |
| SKCM | TCGA-EE-A2GO-06 | exon_skip_41857 | 70644016 | 70646374 | 70644837 | 70644837 | Nonsense_Mutation | C | T | p.R429* |
| SKCM | TCGA-EE-A2GO-06 | exon_skip_41857 | 70644016 | 70646374 | 70644837 | 70644837 | Nonsense_Mutation | C | T | p.R429X |
| - 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 |
| NCIH2461_PLEURA | 70644016 | 70646374 | 70644650 | 70644650 | Frame_Shift_Del | C | - | p.N366fs |
| RKO_LARGE_INTESTINE | 70644016 | 70646374 | 70646248 | 70646248 | Frame_Shift_Del | A | - | p.Q899fs |
| DOK_UPPER_AERODIGESTIVE_TRACT | 70644016 | 70646374 | 70645071 | 70645072 | Frame_Shift_Ins | - | T | p.I507fs |
| SARC9371_BONE | 70644016 | 70646374 | 70644028 | 70644028 | Missense_Mutation | C | T | p.P159L |
| SARC9371_BONE | 70644016 | 70644215 | 70644028 | 70644028 | Missense_Mutation | C | T | p.P159L |
| CA922_UPPER_AERODIGESTIVE_TRACT | 70644016 | 70646374 | 70644031 | 70644031 | Missense_Mutation | C | T | p.S160L |
| CA922_UPPER_AERODIGESTIVE_TRACT | 70644016 | 70644215 | 70644031 | 70644031 | Missense_Mutation | C | T | p.S160L |
| MEWO_SKIN | 70644016 | 70646374 | 70644031 | 70644031 | Missense_Mutation | C | T | p.S160L |
| MEWO_SKIN | 70644016 | 70644215 | 70644031 | 70644031 | Missense_Mutation | C | T | p.S160L |
| MDAMB361_BREAST | 70644016 | 70646374 | 70644042 | 70644042 | Missense_Mutation | C | G | p.L164V |
| MDAMB361_BREAST | 70644016 | 70644215 | 70644042 | 70644042 | Missense_Mutation | C | G | p.L164V |
| NB17_AUTONOMIC_GANGLIA | 70644016 | 70646374 | 70644061 | 70644061 | Missense_Mutation | C | T | p.T170M |
| NB17_AUTONOMIC_GANGLIA | 70644016 | 70644215 | 70644061 | 70644061 | Missense_Mutation | C | T | p.T170M |
| HUH1_LIVER | 70644016 | 70646374 | 70644103 | 70644103 | Missense_Mutation | A | G | p.Y184C |
| HUH1_LIVER | 70644016 | 70644215 | 70644103 | 70644103 | Missense_Mutation | A | G | p.Y184C |
| RH18_SOFT_TISSUE | 70644016 | 70646374 | 70644169 | 70644169 | Missense_Mutation | T | C | p.L206P |
| RH18_SOFT_TISSUE | 70644016 | 70644215 | 70644169 | 70644169 | Missense_Mutation | T | C | p.L206P |
| NCIH510_LUNG | 70644016 | 70646374 | 70644177 | 70644177 | Missense_Mutation | G | T | p.D209Y |
| NCIH510_LUNG | 70644016 | 70644215 | 70644177 | 70644177 | Missense_Mutation | G | T | p.D209Y |
| JHH4_LIVER | 70644016 | 70646374 | 70644274 | 70644274 | Missense_Mutation | G | A | p.C241Y |
| JHUEM7_ENDOMETRIUM | 70644016 | 70646374 | 70644324 | 70644324 | Missense_Mutation | G | A | p.A258T |
| HCT15_LARGE_INTESTINE | 70644016 | 70646374 | 70644349 | 70644349 | Missense_Mutation | G | T | p.R266M |
| T3M10_LUNG | 70644016 | 70646374 | 70644415 | 70644415 | Missense_Mutation | C | T | p.A288V |
| HCT15_LARGE_INTESTINE | 70644016 | 70646374 | 70644544 | 70644544 | Missense_Mutation | G | T | p.S331I |
| SNGM_ENDOMETRIUM | 70644016 | 70646374 | 70644723 | 70644723 | Missense_Mutation | A | G | p.N391D |
| NCIH358_LUNG | 70644016 | 70646374 | 70644771 | 70644771 | Missense_Mutation | C | G | p.P407A |
| SISO_CERVIX | 70644016 | 70646374 | 70644801 | 70644801 | Missense_Mutation | G | T | p.G417C |
| GRST_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 70644016 | 70646374 | 70644801 | 70644801 | Missense_Mutation | G | T | p.G417C |
| HT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 70644016 | 70646374 | 70645112 | 70645112 | Missense_Mutation | A | C | p.K520N |
| SNU81_LARGE_INTESTINE | 70644016 | 70646374 | 70645174 | 70645174 | Missense_Mutation | G | T | p.R541I |
| LS123_LARGE_INTESTINE | 70644016 | 70646374 | 70645342 | 70645342 | Missense_Mutation | G | T | p.C597F |
| RCC10RGB_KIDNEY | 70644016 | 70646374 | 70645345 | 70645345 | Missense_Mutation | G | C | p.C598S |
| COLO792_SKIN | 70644016 | 70646374 | 70645449 | 70645449 | Missense_Mutation | G | A | p.E633K |
| ES2_OVARY | 70644016 | 70646374 | 70645552 | 70645552 | Missense_Mutation | A | G | p.Q667R |
| NCIH1573_LUNG | 70644016 | 70646374 | 70645600 | 70645600 | Missense_Mutation | A | G | p.Q683R |
| CAL54_KIDNEY | 70644016 | 70646374 | 70645672 | 70645672 | Missense_Mutation | G | A | p.S707N |
| DU145_PROSTATE | 70644016 | 70646374 | 70645698 | 70645698 | Missense_Mutation | G | A | p.D716N |
| RERFLCAD1_LUNG | 70644016 | 70646374 | 70645702 | 70645702 | Missense_Mutation | A | T | p.D717V |
| NB5_AUTONOMIC_GANGLIA | 70644016 | 70646374 | 70645908 | 70645908 | Missense_Mutation | A | G | p.M786V |
| KU812_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 70644016 | 70646374 | 70645909 | 70645909 | Missense_Mutation | T | C | p.M786T |
| PACADD137_PANCREAS | 70644016 | 70646374 | 70646001 | 70646001 | Missense_Mutation | C | A | p.L817I |
| NCIH2029_LUNG | 70644016 | 70646374 | 70646020 | 70646020 | Missense_Mutation | G | T | p.G823V |
| HEC59_ENDOMETRIUM | 70644016 | 70646374 | 70646052 | 70646052 | Missense_Mutation | T | A | p.Y834N |
| RCK8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 70644016 | 70646374 | 70646064 | 70646064 | Missense_Mutation | C | T | p.P838S |
| HCC1569_BREAST | 70644016 | 70646374 | 70646138 | 70646138 | Missense_Mutation | A | C | p.K862N |
| PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 70644016 | 70646374 | 70646242 | 70646242 | Missense_Mutation | T | C | p.F897S |
| M980513_SKIN | 70644016 | 70646374 | 70646272 | 70646272 | Missense_Mutation | C | T | p.S907L |
| HUCCT1_BILIARY_TRACT | 70644016 | 70646374 | 70646310 | 70646310 | Missense_Mutation | C | T | p.H920Y |
| NCIH1869_LUNG | 70644016 | 70646374 | 70646310 | 70646310 | Missense_Mutation | C | T | p.H920Y |
| ISTMES2_PLEURA | 70644016 | 70646374 | 70645767 | 70645767 | Nonsense_Mutation | G | T | p.E739* |
Top |
Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for STOX1 |
| 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 |
| exon_skip_41857 | 10 | 70641713:70641866:70644015:70646374:70652344:70652529 | 70644015:70646374 | ENST00000421961.2,ENST00000399169.4,ENST00000298596.6 | HNSC | rs10509306 | chr10:70645697 | C/T | 3.70e-05 |
| exon_skip_41857 | 10 | 70641713:70641866:70644015:70646374:70652344:70652529 | 70644015:70646374 | ENST00000421961.2,ENST00000399169.4,ENST00000298596.6 | HNSC | rs10509305 | chr10:70645376 | A/C | 2.65e-04 |
| exon_skip_41857 | 10 | 70641713:70641866:70644015:70646374:70652344:70652529 | 70644015:70646374 | ENST00000421961.2,ENST00000399169.4,ENST00000298596.6 | BRCA | rs10509305 | chr10:70645376 | A/C | 4.66e-04 |
| exon_skip_41857 | 10 | 70641713:70641866:70644015:70646374:70652344:70652529 | 70644015:70646374 | ENST00000421961.2,ENST00000399169.4,ENST00000298596.6 | BRCA | rs10509306 | chr10:70645697 | C/T | 3.45e-03 |
| exon_skip_41857 | 10 | 70641713:70641866:70644015:70646374:70652344:70652529 | 70644015:70646374 | ENST00000421961.2,ENST00000399169.4,ENST00000298596.6 | LGG | rs10509305 | chr10:70645376 | A/C | 2.71e-03 |
| exon_skip_41857 | 10 | 70641713:70641866:70644015:70646374:70652344:70652529 | 70644015:70646374 | ENST00000421961.2,ENST00000399169.4,ENST00000298596.6 | KIRC | rs10509306 | chr10:70645697 | C/T | 1.97e-05 |
| exon_skip_41857 | 10 | 70641713:70641866:70644015:70646374:70652344:70652529 | 70644015:70646374 | ENST00000421961.2,ENST00000399169.4,ENST00000298596.6 | KIRC | rs10509305 | chr10:70645376 | A/C | 8.17e-04 |
| exon_skip_41857 | 10 | 70641713:70641866:70644015:70646374:70652344:70652529 | 70644015:70646374 | ENST00000421961.2,ENST00000399169.4,ENST00000298596.6 | LUAD | rs10509305 | chr10:70645376 | A/C | 3.49e-04 |
| exon_skip_41857 | 10 | 70641713:70641866:70644015:70646374:70652344:70652529 | 70644015:70646374 | ENST00000421961.2,ENST00000399169.4,ENST00000298596.6 | LUAD | rs10509306 | chr10:70645697 | C/T | 1.28e-03 |
| exon_skip_41857 | 10 | 70641713:70641866:70644015:70646374:70652344:70652529 | 70644015:70646374 | ENST00000421961.2,ENST00000399169.4,ENST00000298596.6 | THCA | rs10509305 | chr10:70645376 | A/C | 1.29e-03 |
| exon_skip_41857 | 10 | 70641713:70641866:70644015:70646374:70652344:70652529 | 70644015:70646374 | ENST00000421961.2,ENST00000399169.4,ENST00000298596.6 | THCA | rs10509305 | chr10:70645376 | A/C | 3.69e-03 |
Top |
Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for STOX1 |
Top |
Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for STOX1 |
Top |
RelatedDrugs for STOX1 |
| 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 |
Top |
RelatedDiseases for STOX1 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| STOX1 | C1836255 | Preeclampsia Eclampsia 4 | 1 | UNIPROT |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
|