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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 STRADB |
Gene summary |
Gene information | Gene symbol | STRADB | Gene ID | 55437 |
Gene name | STE20-related kinase adaptor beta | |
Synonyms | ALS2CR2|CALS-21|ILPIP|ILPIPA|PAPK|PRO1038 | |
Cytomap | 2q33.1 | |
Type of gene | protein-coding | |
Description | STE20-related kinase adapter protein betaILP-interacting protein ILPIPASTRAD betaamyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 2amyotrophic lateral sclerosis 2 chromosomal region candidate gene 2 proteinpseudokinase ALS2CR2 | |
Modification date | 20180523 | |
UniProtAcc | Q9C0K7 | |
Context | PubMed: STRADB [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 |
STRADB | GO:0006468 | protein phosphorylation | 14517248 |
STRADB | GO:0006611 | protein export from nucleus | 14517248 |
STRADB | GO:0032147 | activation of protein kinase activity | 14517248 |
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Exon skipping events across known transcript of Ensembl for STRADB 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 STRADB |
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 STRADB |
Information of exkip skipping event in TCGA. |
Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
exon_skip_332483 | 2 | 202319471:202319575:202322101:202322173:202323506:202323546 | 202322101:202322173 | ENSG00000082146.8 | ENST00000488196.1 |
exon_skip_332484 | 2 | 202319468:202319575:202323506:202323587:202334675:202334775 | 202323506:202323587 | ENSG00000082146.8 | ENST00000194530.3,ENST00000392249.2 |
exon_skip_332485 | 2 | 202319468:202319575:202323506:202323587:202337677:202337799 | 202323506:202323587 | ENSG00000082146.8 | ENST00000447698.1 |
exon_skip_332487 | 2 | 202323506:202323587:202334675:202334775:202337677:202337799 | 202334675:202334775 | ENSG00000082146.8 | ENST00000194530.3,ENST00000392249.2 |
exon_skip_332488 | 2 | 202340393:202340465:202342341:202342513:202342809:202342836 | 202342341:202342513 | ENSG00000082146.8 | ENST00000498648.1,ENST00000194530.3,ENST00000392249.2,ENST00000458269.2,ENST00000468123.1 |
exon_skip_332489 | 2 | 202342872:202342914:202343079:202343324:202344211:202344254 | 202343079:202343324 | ENSG00000082146.8 | ENST00000194530.3,ENST00000392249.2 |
exon_skip_332492 | 2 | 202342872:202342914:202343285:202343324:202344211:202344254 | 202343285:202343324 | ENSG00000082146.8 | ENST00000415688.1 |
exon_skip_332496 | 2 | 202343285:202343324:202344211:202344254:202344754:202345071 | 202344211:202344254 | ENSG00000082146.8 | ENST00000415688.1,ENST00000194530.3 |
PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for STRADB |
Information of exkip skipping event in GTEx |
Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
exon_skip_332483 | 2 | 202319471:202319575:202322101:202322173:202323506:202323546 | 202322101:202322173 | ENSG00000082146.8 | ENST00000488196.1 |
exon_skip_332484 | 2 | 202319468:202319575:202323506:202323587:202334675:202334775 | 202323506:202323587 | ENSG00000082146.8 | ENST00000194530.3,ENST00000392249.2 |
exon_skip_332485 | 2 | 202319468:202319575:202323506:202323587:202337677:202337799 | 202323506:202323587 | ENSG00000082146.8 | ENST00000447698.1 |
exon_skip_332487 | 2 | 202323506:202323587:202334675:202334775:202337677:202337799 | 202334675:202334775 | ENSG00000082146.8 | ENST00000194530.3,ENST00000392249.2 |
exon_skip_332488 | 2 | 202340393:202340465:202342341:202342513:202342809:202342836 | 202342341:202342513 | ENSG00000082146.8 | ENST00000458269.2,ENST00000194530.3,ENST00000392249.2,ENST00000498648.1,ENST00000468123.1 |
exon_skip_332489 | 2 | 202342872:202342914:202343079:202343324:202344211:202344254 | 202343079:202343324 | ENSG00000082146.8 | ENST00000194530.3,ENST00000392249.2 |
exon_skip_332492 | 2 | 202342872:202342914:202343285:202343324:202344211:202344254 | 202343285:202343324 | ENSG00000082146.8 | ENST00000415688.1 |
exon_skip_332496 | 2 | 202343285:202343324:202344211:202344254:202344754:202345071 | 202344211:202344254 | ENSG00000082146.8 | ENST00000194530.3,ENST00000415688.1 |
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 STRADB |
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 |
ENST00000194530 | 202334675 | 202334775 | Frame-shift |
ENST00000194530 | 202342341 | 202342513 | Frame-shift |
ENST00000194530 | 202343079 | 202343324 | Frame-shift |
ENST00000194530 | 202344211 | 202344254 | Frame-shift |
ENST00000194530 | 202323506 | 202323587 | 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 |
ENST00000194530 | 202334675 | 202334775 | Frame-shift |
ENST00000194530 | 202342341 | 202342513 | Frame-shift |
ENST00000194530 | 202343079 | 202343324 | Frame-shift |
ENST00000194530 | 202344211 | 202344254 | Frame-shift |
ENST00000194530 | 202323506 | 202323587 | In-frame |
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Infer the effects of exon skipping event on protein functional features for STRADB |
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 |
ENST00000194530 | 2310 | 418 | 202323506 | 202323587 | 378 | 458 | 4 | 31 |
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 |
ENST00000194530 | 2310 | 418 | 202323506 | 202323587 | 378 | 458 | 4 | 31 |
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 |
Q9C0K7 | 4 | 31 | 1 | 138 | Alternative sequence | ID=VSP_016625;Note=In isoform 3. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:12048196,ECO:0000303|Ref.3;Dbxref=PMID:12048196 |
Q9C0K7 | 4 | 31 | 1 | 418 | Chain | ID=PRO_0000085617;Note=STE20-related kinase adapter protein beta |
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 |
Q9C0K7 | 4 | 31 | 1 | 138 | Alternative sequence | ID=VSP_016625;Note=In isoform 3. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:12048196,ECO:0000303|Ref.3;Dbxref=PMID:12048196 |
Q9C0K7 | 4 | 31 | 1 | 418 | Chain | ID=PRO_0000085617;Note=STE20-related kinase adapter protein beta |
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SNVs in the skipped exons for STRADB |
- 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-A1EG-01 | exon_skip_332485 exon_skip_332484 | 202323507 | 202323587 | 202323553 | 202323553 | Frame_Shift_Del | A | - | p.E20fs |
LIHC | TCGA-DD-A3A0-01 | exon_skip_332485 exon_skip_332484 | 202323507 | 202323587 | 202323553 | 202323553 | Frame_Shift_Del | A | - | p.E20fs |
HNSC | TCGA-CN-A6V1-01 | exon_skip_332489 | 202343080 | 202343324 | 202343234 | 202343234 | Frame_Shift_Del | G | - | p.S327fs |
LIHC | TCGA-DD-A39Y-01 | exon_skip_332496 | 202344212 | 202344254 | 202344241 | 202344241 | Frame_Shift_Del | T | - | p.V367fs |
UCEC | TCGA-B5-A0JY-01 | exon_skip_332485 exon_skip_332484 | 202323507 | 202323587 | 202323584 | 202323584 | Nonsense_Mutation | C | A | p.Y30* |
LIHC | TCGA-MI-A75H-01 | exon_skip_332488 | 202342342 | 202342513 | 202342489 | 202342489 | Nonsense_Mutation | G | A | p.W232* |
UCEC | TCGA-AP-A056-01 | exon_skip_332485 exon_skip_332484 | 202323507 | 202323587 | 202323506 | 202323506 | Splice_Site | G | T | e2-1 |
- 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 |
HEC151_ENDOMETRIUM | 202343080 | 202343324 | 202343320 | 202343320 | Frame_Shift_Del | A | - | p.K356fs |
HEC151_ENDOMETRIUM | 202343286 | 202343324 | 202343320 | 202343320 | Frame_Shift_Del | A | - | p.K356fs |
HUH6_LIVER | 202323507 | 202323587 | 202323568 | 202323568 | Missense_Mutation | C | A | p.T25N |
HUH6CLONE5_LIVER | 202323507 | 202323587 | 202323568 | 202323568 | Missense_Mutation | C | A | p.T25N |
JHUEM2_ENDOMETRIUM | 202334676 | 202334775 | 202334722 | 202334722 | Missense_Mutation | G | C | p.S47T |
DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 202342342 | 202342513 | 202342346 | 202342346 | Missense_Mutation | A | T | p.I185F |
59M_OVARY | 202342342 | 202342513 | 202342353 | 202342353 | Missense_Mutation | C | G | p.A187G |
OC316_OVARY | 202342342 | 202342513 | 202342446 | 202342446 | Missense_Mutation | C | T | p.A218V |
OC314_OVARY | 202342342 | 202342513 | 202342446 | 202342446 | Missense_Mutation | C | T | p.A218V |
DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 202342342 | 202342513 | 202342452 | 202342452 | Missense_Mutation | A | T | p.Y220F |
MB1_THYROID | 202342342 | 202342513 | 202342459 | 202342459 | Missense_Mutation | C | G | p.F222L |
HEC1_ENDOMETRIUM | 202343080 | 202343324 | 202343105 | 202343105 | Missense_Mutation | C | A | p.P284H |
KM12_LARGE_INTESTINE | 202343080 | 202343324 | 202343129 | 202343129 | Missense_Mutation | G | A | p.S292N |
HEC50B_ENDOMETRIUM | 202343080 | 202343324 | 202343150 | 202343150 | Missense_Mutation | C | G | p.S299C |
HEC108_ENDOMETRIUM | 202343080 | 202343324 | 202343174 | 202343174 | Missense_Mutation | G | A | p.G307D |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for STRADB |
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 STRADB |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for STRADB |
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RelatedDrugs for STRADB |
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 STRADB |
Diseases associated with this gene. (DisGeNet 4.0) |
Gene | Disease ID | Disease name | # pubmeds | Source |