|
Open reading frame (ORF) annotation in the exon skipping event | |
3'-UTR located exon skipping events lost miRNA binding sites | |
Splicing Quantitative Trait Loci (sQTLs) in the skipped exons | |
Gene summary for TMX3 |
Gene summary |
Gene information | Gene symbol | TMX3 | Gene ID | 54495 |
Gene name | thioredoxin related transmembrane protein 3 | |
Synonyms | PDIA13|TXNDC10 | |
Cytomap | 18q22.1 | |
Type of gene | protein-coding | |
Description | protein disulfide-isomerase TMX3protein disulfide isomerase family A, member 13thioredoxin domain containing 10thioredoxin domain-containing protein 10 | |
Modification date | 20200313 | |
UniProtAcc | ||
Context |
Gene ontology of each this gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
Gene | GO ID | GO term | PubMed ID |
TMX3 | GO:0018171 | peptidyl-cysteine oxidation | 15623505 |
Top |
Gene structures and expression levels for TMX3 |
Skipped exons in the ROSMAP, MSBB, and Mayo 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. |
Differentially expressed gene analysis across multiple brain tissues between AD and control. |
Tissue type | DEG direction | Base mean exp. | log2FC(AD/control) | P-value | Adj. p-value |
Differentially expressed isoform analysis across multiple brain tissues between AD and control. |
Tissue type | DEG direction | ENST | Transcript info. | Base mean exp. | log2FC(AD/control) | P-value | Adjc. p-value |
CB | UP | ENST00000578816.1 | TMX3-213:retained_intron:TMX3 | 1.447898e+01 | 1.078628e+00 | 3.103615e-05 | 2.743455e-04 |
CB | UP | ENST00000569982.3 | TMX3-211:nonsense_mediated_decay:TMX3 | 7.825706e-01 | 1.334125e+00 | 3.513229e-04 | 2.139432e-03 |
Landscape of isoform expressions across multiple brain tissues between AD and control. |
Top |
Exon skipping events with PSIs in ROSMAP, MSBB, and Mayo for TMX3 |
Landscape of individual exon skipping event across AD tissues and controls (PSI heatmap). |
All exon skipping events in AD cohorts. |
Exon skip ID | chr | Exons involved in exon skipping | Skipped exon |
exon_skip_147214 | chr18 | 68701745:68701790:68710021:68710144:68711364:68711403 | 68710021:68710144 |
exon_skip_177936 | chr18 | 68679463:68679531:68680981:68681110:68682925:68682981 | 68680981:68681110 |
exon_skip_179916 | chr18 | 68697932:68698031:68701745:68701790:68710021:68710144 | 68701745:68701790 |
exon_skip_190626 | chr18 | 68684190:68684243:68684428:68684485:68687667:68687765 | 68684428:68684485 |
exon_skip_191774 | chr18 | 68700405:68700485:68701616:68701667:68701745:68701790 | 68701616:68701667 |
exon_skip_225603 | chr18 | 68700405:68700485:68701745:68701790:68710021:68710144 | 68701745:68701790 |
exon_skip_282486 | chr18 | 68697932:68698031:68700405:68700485:68701745:68701790 | 68700405:68700485 |
exon_skip_40845 | chr18 | 68697932:68698031:68700405:68700485:68710021:68710144 | 68700405:68700485 |
exon_skip_85996 | chr18 | 68700405:68700485:68701745:68701790:68710021:68710143 | 68701745:68701790 |
Differentially expressed PSI values of individual exon skipping events in multiple brain tissues between AD and control. |
Exon skipping information | Tissue type | Avg(PSIs) in AD | Avg(PSIs) in control | Difference (PSI) | Adj. p-value |
Top |
Open reading frame (ORF) annotation in the exon skipping event for TMX3 |
Open reading frame (ORF) of individual exon skipping events in ROSMAP based on the Ensembl gene structure combined from isoforms. |
ENST | Start of skipped exon | End of skipped exon | ORF |
ENST00000299608 | 68680981 | 68681110 | Frame-shift |
ENST00000299608 | 68701745 | 68701790 | Frame-shift |
ENST00000299608 | 68700405 | 68700485 | In-frame |
Open reading frame (ORF) of individual exon skipping events in MSBB based on the Ensembl gene structure combined from isoforms. |
ENST | Start of skipped exon | End of skipped exon | ORF |
ENST00000299608 | 68680981 | 68681110 | Frame-shift |
ENST00000299608 | 68701745 | 68701790 | Frame-shift |
ENST00000299608 | 68700405 | 68700485 | In-frame |
Open reading frame (ORF) of individual exon skipping events in Mayo based on the Ensembl gene structure combined from isoforms. |
ENST | Start of skipped exon | End of skipped exon | ORF |
ENST00000299608 | 68680981 | 68681110 | Frame-shift |
ENST00000299608 | 68684428 | 68684485 | Frame-shift |
ENST00000299608 | 68701745 | 68701790 | Frame-shift |
ENST00000299608 | 68710021 | 68710144 | Frame-shift |
ENST00000299608 | 68700405 | 68700485 | In-frame |
Top |
Infer the effects of exon skipping event on protein functional features for TMX3 |
p-ENSG00000166479_img4.png |
Loci of skipped exons in ROSMAP 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 |
ENST00000299608 | 4944 | 454 | 68700405 | 68700485 | 629 | 708 | 104 | 130 |
Loci of skipped exons in MSBB 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 |
ENST00000299608 | 4944 | 454 | 68700405 | 68700485 | 629 | 708 | 104 | 130 |
Loci of skipped exons in Mayo 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 |
ENST00000299608 | 4944 | 454 | 68700405 | 68700485 | 629 | 708 | 104 | 130 |
Lost protein functional features of individual exon skipping events in ROSMAP. |
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 |
Q96JJ7 | 104 | 130 | 25 | 454 | Chain | ID=PRO_0000034185;Note=Protein disulfide-isomerase TMX3 |
Q96JJ7 | 104 | 130 | 25 | 128 | Domain | Note=Thioredoxin;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00691 |
Q96JJ7 | 104 | 130 | 25 | 375 | Topological domain | Note=Lumenal;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
Lost protein functional features of individual exon skipping events in MSBB. |
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 |
Q96JJ7 | 104 | 130 | 25 | 454 | Chain | ID=PRO_0000034185;Note=Protein disulfide-isomerase TMX3 |
Q96JJ7 | 104 | 130 | 25 | 128 | Domain | Note=Thioredoxin;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00691 |
Q96JJ7 | 104 | 130 | 25 | 375 | Topological domain | Note=Lumenal;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
Lost protein functional features of individual exon skipping events in Mayo. |
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 |
Q96JJ7 | 104 | 130 | 25 | 454 | Chain | ID=PRO_0000034185;Note=Protein disulfide-isomerase TMX3 |
Q96JJ7 | 104 | 130 | 25 | 128 | Domain | Note=Thioredoxin;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00691 |
Q96JJ7 | 104 | 130 | 25 | 375 | Topological domain | Note=Lumenal;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
Top |
3'-UTR located exon skipping events that lost miRNA binding sites in TMX3 |
3'-UTR exon skipping evnets lost miRNA binding. |
Tissue type | ENST | Exon skip start | Exon skip end | microRNA | Binding site by TargetScan | Binding type by TargetScan | Bdinding site by miRanda | Score of miRanda | Energy by miRanda |
Top |
SNVs in the skipped exons for TMX3 |
- Differential PSIs between mutated versus non-mutated samples. |
- Depth of Coverage in the skipped exon of the mutated samples. |
- Sashimi plot in the skipped exon of the mutated samples. |
- Non-synonymous mutations located in the skipped exons. |
Cancer type | Sample | ESID | Skipped exon start | Skipped exon end | Mutation start | Mutation end | Mutation type | Reference seq | Mutation seq | AAchange |
- 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 |
Top |
AD stage-associated exon skippint events for TMX3 |
Associated exon skipping events with Braak staging or Clinical Dementia Rating (CDR). |
AD stage info | Cohort | Tissue | SE id | Coefficient | P-value | Chromosome | Strand | E1 start | E1 end | Skipped start | Skipped end | E2 start | E2 end |
Top |
Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for TMX3 |
sQTL information located at the skipped exons. |
Tissue type | Exon skip ID | SNP id | Location | P-value | FDR |
Top |
Correlation with RNA binding proteins (RBPs) for TMX3 |
Correlated RBP and related information. |
Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
CB | DAZAP1 | exon_skip_177936 | -4.766259e-01 | 1.360156e-09 |
CB | CNOT4 | exon_skip_177936 | -5.617377e-01 | 1.970937e-13 |
CB | MBNL1 | exon_skip_177936 | -4.051383e-01 | 4.309765e-07 |
CB | PCBP1 | exon_skip_177936 | -5.062967e-01 | 8.207961e-11 |
CB | RC3H1 | exon_skip_177936 | -4.320247e-01 | 5.765264e-08 |
CB | FUBP1 | exon_skip_177936 | -5.673246e-01 | 1.007036e-13 |
CB | CNOT4 | exon_skip_282486 | -4.448088e-01 | 5.784146e-08 |
Top |
RelatedDrugs for TMX3 |
Approved drugs targeting this gene. (DrugBank Version 5.1.0 2018-04-02) |
UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
Top |
RelatedDiseases for TMX3 |
Diseases associated with this gene. (DisGeNet 4.0) |
Gene | Disease ID | Disease name | # pubmeds | Source |