|
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 MTMR10 |
Gene summary |
Gene information | Gene symbol | MTMR10 | Gene ID | 54893 |
Gene name | myotubularin related protein 10 | |
Synonyms | - | |
Cytomap | 15q13.3 | |
Type of gene | protein-coding | |
Description | myotubularin-related protein 10inactive phosphatidylinositol 3-phosphatase 10 | |
Modification date | 20200320 | |
UniProtAcc | A0A024R211, | |
Context |
Gene ontology of each this gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
Gene | GO ID | GO term | PubMed ID |
Top |
Gene structures and expression levels for MTMR10 |
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 |
PCC | UP | ENST00000568604.5 | MTMR10-209:nonsense_mediated_decay:MTMR10 | 2.823769e+01 | 2.026177e+00 | 5.336582e-05 | 4.001920e-03 |
PG | UP | ENST00000568547.5 | MTMR10-208:nonsense_mediated_decay:MTMR10 | 6.786111e+00 | 1.726831e+00 | 4.888070e-03 | 4.497886e-02 |
CB | UP | ENST00000566981.1 | MTMR10-206:protein_coding:MTMR10 | 5.336519e+00 | 8.713003e-01 | 1.470844e-02 | 4.748941e-02 |
Landscape of isoform expressions across multiple brain tissues between AD and control. |
Top |
Exon skipping events with PSIs in ROSMAP, MSBB, and Mayo for MTMR10 |
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_115838 | chr15 | 30960881:30961073:30965875:30966040:30967920:30968010 | 30965875:30966040 |
exon_skip_126482 | chr15 | 30948302:30948471:30951968:30952038:30953562:30953631 | 30951968:30952038 |
exon_skip_126812 | chr15 | 30974931:30975003:30976819:30976955:30990777:30990837 | 30976819:30976955 |
exon_skip_142059 | chr15 | 30941209:30942072:30942890:30943072:30947130:30947300 | 30942890:30943072 |
exon_skip_195352 | chr15 | 30960881:30961073:30967920:30968010:30974314:30974389 | 30967920:30968010 |
exon_skip_240322 | chr15 | 30976819:30976955:30990777:30990837:30991447:30991578 | 30990777:30990837 |
exon_skip_3125 | chr15 | 30961051:30961073:30965875:30966040:30967920:30968010 | 30965875:30966040 |
exon_skip_35923 | chr15 | 30958863:30958951:30959034:30959121:30960881:30960933 | 30959034:30959121 |
exon_skip_41878 | chr15 | 30961051:30961073:30967920:30968010:30974314:30974389 | 30967920:30968010 |
exon_skip_64317 | chr15 | 30947130:30947300:30948302:30948471:30951968:30952038 | 30948302:30948471 |
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 MTMR10 |
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 |
ENST00000435680 | 30951968 | 30952038 | Frame-shift |
ENST00000435680 | 30959034 | 30959121 | Frame-shift |
ENST00000435680 | 30967920 | 30968010 | Frame-shift |
ENST00000435680 | 30976819 | 30976955 | Frame-shift |
ENST00000435680 | 30942890 | 30943072 | 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 |
ENST00000435680 | 30967920 | 30968010 | Frame-shift |
ENST00000435680 | 30976819 | 30976955 | Frame-shift |
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 |
ENST00000435680 | 30948302 | 30948471 | Frame-shift |
ENST00000435680 | 30951968 | 30952038 | Frame-shift |
ENST00000435680 | 30959034 | 30959121 | Frame-shift |
ENST00000435680 | 30967920 | 30968010 | Frame-shift |
ENST00000435680 | 30976819 | 30976955 | Frame-shift |
ENST00000435680 | 30942890 | 30943072 | In-frame |
Top |
Infer the effects of exon skipping event on protein functional features for MTMR10 |
p-ENSG00000166912_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 |
ENST00000435680 | 4978 | 777 | 30942890 | 30943072 | 1647 | 1828 | 516 | 576 |
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 |
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 |
ENST00000435680 | 4978 | 777 | 30942890 | 30943072 | 1647 | 1828 | 516 | 576 |
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 |
Q9NXD2 | 516 | 576 | 219 | 777 | Alternative sequence | ID=VSP_024466;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
Q9NXD2 | 516 | 576 | 517 | 533 | Alternative sequence | ID=VSP_024467;Note=In isoform 2. EFAISKNIQLGDEKGLK->VSRIKSCTKQDYFPSRV;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
Q9NXD2 | 516 | 576 | 534 | 777 | Alternative sequence | ID=VSP_024468;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
Q9NXD2 | 516 | 576 | 1 | 777 | Chain | ID=PRO_0000284360;Note=Myotubularin-related protein 10 |
Q9NXD2 | 516 | 576 | 221 | 661 | Domain | Note=Myotubularin phosphatase;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00669 |
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 |
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 |
Q9NXD2 | 516 | 576 | 219 | 777 | Alternative sequence | ID=VSP_024466;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
Q9NXD2 | 516 | 576 | 517 | 533 | Alternative sequence | ID=VSP_024467;Note=In isoform 2. EFAISKNIQLGDEKGLK->VSRIKSCTKQDYFPSRV;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
Q9NXD2 | 516 | 576 | 534 | 777 | Alternative sequence | ID=VSP_024468;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
Q9NXD2 | 516 | 576 | 1 | 777 | Chain | ID=PRO_0000284360;Note=Myotubularin-related protein 10 |
Q9NXD2 | 516 | 576 | 221 | 661 | Domain | Note=Myotubularin phosphatase;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00669 |
Top |
3'-UTR located exon skipping events that lost miRNA binding sites in MTMR10 |
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 MTMR10 |
- 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 MTMR10 |
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 MTMR10 |
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 MTMR10 |
Correlated RBP and related information. |
Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
IFG | G3BP2 | exon_skip_115838 | -5.383038e-01 | 3.127042e-03 |
Top |
RelatedDrugs for MTMR10 |
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 MTMR10 |
Diseases associated with this gene. (DisGeNet 4.0) |
Gene | Disease ID | Disease name | # pubmeds | Source |