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| Open reading frame (ORF) annotation in the exon skipping event |
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| Splicing Quantitative Trait Loci (sQTLs) in the skipped exons |
| Splicing Quantitative Trait Methylation (sQTM) in the skipped exon |
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Gene summary for MTMR12 |
 Gene summary |
| Gene information | Gene symbol | MTMR12 | Gene ID | 54545 |
| Gene name | myotubularin related protein 12 | |
| Synonyms | 3-PAP|PIP3AP | |
| Cytomap | 5p13.3 | |
| Type of gene | protein-coding | |
| Description | myotubularin-related protein 123-phosphatase adapter protein3-phosphatase adapter subunitphosphatidylinositol 3 phosphate 3-phosphatase adapter subunitphosphatidylinositol-3 phosphate 3-phosphatase adaptor subunitphosphatidylinositol-3-phosphate asso | |
| Modification date | 20180519 | |
| UniProtAcc | Q9C0I1 | |
| Context | PubMed: MTMR12 [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 MTMR12 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 MTMR12 |
| Expression levels of gene isoforms across TCGA. |
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| Expression levels of gene isoforms across GTEx. |
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Exon skipping events with PSIs in TCGA for MTMR12 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_441331 | 5 | 32230190:32230453:32233066:32233126:32233878:32233999 | 32233066:32233126 | ENSG00000150712.6 | ENST00000510216.1 |
| exon_skip_441334 | 5 | 32230190:32230453:32233878:32234040:32235067:32235210 | 32233878:32234040 | ENSG00000150712.6 | ENST00000382142.3 |
| exon_skip_441337 | 5 | 32230190:32230453:32235067:32235235:32239106:32239209 | 32235067:32235235 | ENSG00000150712.6 | ENST00000280285.5 |
| exon_skip_441341 | 5 | 32233878:32234040:32235067:32235235:32239106:32239209 | 32235067:32235235 | ENSG00000150712.6 | ENST00000382142.3 |
| exon_skip_441342 | 5 | 32239106:32239279:32242162:32242233:32243626:32243705 | 32242162:32242233 | ENSG00000150712.6 | ENST00000382142.3,ENST00000280285.5,ENST00000264934.5 |
| exon_skip_441344 | 5 | 32243626:32243705:32248107:32248232:32248877:32248984 | 32248107:32248232 | ENSG00000150712.6 | ENST00000382142.3,ENST00000280285.5,ENST00000504049.1,ENST00000264934.5 |
| exon_skip_441346 | 5 | 32248877:32248984:32255798:32255874:32263218:32263348 | 32255798:32255874 | ENSG00000150712.6 | ENST00000382142.3,ENST00000280285.5,ENST00000264934.5 |
| exon_skip_441349 | 5 | 32255798:32255874:32263218:32263348:32268806:32268900 | 32263218:32263348 | ENSG00000150712.6 | ENST00000382142.3,ENST00000280285.5,ENST00000264934.5 |
| exon_skip_441352 | 5 | 32263218:32263348:32268806:32268900:32270922:32271053 | 32268806:32268900 | ENSG00000150712.6 | ENST00000382142.3,ENST00000280285.5,ENST00000264934.5 |
| exon_skip_441356 | 5 | 32270950:32271053:32271938:32272011:32274085:32274228 | 32271938:32272011 | ENSG00000150712.6 | ENST00000382142.3,ENST00000505419.1,ENST00000280285.5,ENST00000264934.5 |
| exon_skip_441357 | 5 | 32271938:32272011:32274085:32274228:32312863:32313030 | 32274085:32274228 | ENSG00000150712.6 | ENST00000505419.1 |
| exon_skip_441358 | 5 | 32274085:32274228:32276787:32276848:32312863:32313030 | 32276787:32276848 | ENSG00000150712.6 | ENST00000382142.3,ENST00000264934.5 |
| exon_skip_441364 | 5 | 32276787:32276848:32296459:32296576:32312863:32313030 | 32296459:32296576 | ENSG00000150712.6 | ENST00000513622.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for MTMR12 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_441331 | 5 | 32230190:32230453:32233066:32233126:32233878:32233999 | 32233066:32233126 | ENSG00000150712.6 | ENST00000510216.1 |
| exon_skip_441334 | 5 | 32230190:32230453:32233878:32234040:32235067:32235210 | 32233878:32234040 | ENSG00000150712.6 | ENST00000382142.3 |
| exon_skip_441337 | 5 | 32230190:32230453:32235067:32235235:32239106:32239209 | 32235067:32235235 | ENSG00000150712.6 | ENST00000280285.5 |
| exon_skip_441341 | 5 | 32233878:32234040:32235067:32235235:32239106:32239209 | 32235067:32235235 | ENSG00000150712.6 | ENST00000382142.3 |
| exon_skip_441342 | 5 | 32239106:32239279:32242162:32242233:32243626:32243705 | 32242162:32242233 | ENSG00000150712.6 | ENST00000280285.5,ENST00000382142.3,ENST00000264934.5 |
| exon_skip_441344 | 5 | 32243626:32243705:32248107:32248232:32248877:32248984 | 32248107:32248232 | ENSG00000150712.6 | ENST00000280285.5,ENST00000382142.3,ENST00000264934.5,ENST00000504049.1 |
| exon_skip_441346 | 5 | 32248877:32248984:32255798:32255874:32263218:32263348 | 32255798:32255874 | ENSG00000150712.6 | ENST00000280285.5,ENST00000382142.3,ENST00000264934.5 |
| exon_skip_441349 | 5 | 32255798:32255874:32263218:32263348:32268806:32268900 | 32263218:32263348 | ENSG00000150712.6 | ENST00000280285.5,ENST00000382142.3,ENST00000264934.5 |
| exon_skip_441352 | 5 | 32263218:32263348:32268806:32268900:32270922:32271053 | 32268806:32268900 | ENSG00000150712.6 | ENST00000280285.5,ENST00000382142.3,ENST00000264934.5 |
| exon_skip_441356 | 5 | 32270950:32271053:32271938:32272011:32274085:32274228 | 32271938:32272011 | ENSG00000150712.6 | ENST00000280285.5,ENST00000382142.3,ENST00000264934.5,ENST00000505419.1 |
| exon_skip_441357 | 5 | 32271938:32272011:32274085:32274228:32312863:32313030 | 32274085:32274228 | ENSG00000150712.6 | ENST00000505419.1 |
| exon_skip_441358 | 5 | 32274085:32274228:32276787:32276848:32312863:32313030 | 32276787:32276848 | ENSG00000150712.6 | ENST00000382142.3,ENST00000264934.5 |
| exon_skip_441364 | 5 | 32276787:32276848:32296459:32296576:32312863:32313030 | 32296459:32296576 | ENSG00000150712.6 | ENST00000513622.1 |
| PSI values of skipped exons in GTEx. |
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| * Skipped exon sequences. |
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Open reading frame (ORF) annotation in the exon skipping event for MTMR12 |
| 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 |
| ENST00000382142 | 32242162 | 32242233 | Frame-shift |
| ENST00000382142 | 32248107 | 32248232 | Frame-shift |
| ENST00000382142 | 32255798 | 32255874 | Frame-shift |
| ENST00000382142 | 32263218 | 32263348 | Frame-shift |
| ENST00000382142 | 32268806 | 32268900 | Frame-shift |
| ENST00000382142 | 32271938 | 32272011 | Frame-shift |
| ENST00000382142 | 32276787 | 32276848 | Frame-shift |
| ENST00000382142 | 32233878 | 32234040 | In-frame |
| ENST00000382142 | 32235067 | 32235235 | 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 |
| ENST00000382142 | 32242162 | 32242233 | Frame-shift |
| ENST00000382142 | 32248107 | 32248232 | Frame-shift |
| ENST00000382142 | 32255798 | 32255874 | Frame-shift |
| ENST00000382142 | 32263218 | 32263348 | Frame-shift |
| ENST00000382142 | 32268806 | 32268900 | Frame-shift |
| ENST00000382142 | 32271938 | 32272011 | Frame-shift |
| ENST00000382142 | 32276787 | 32276848 | Frame-shift |
| ENST00000382142 | 32233878 | 32234040 | In-frame |
| ENST00000382142 | 32235067 | 32235235 | In-frame |
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Infer the effects of exon skipping event on protein functional features for MTMR12 |
| Exon skipping at the protein sequence level and followed lost functional features. * Click on the image to enlarge it in a new window. |
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| 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 |
| ENST00000382142 | 5204 | 747 | 32235067 | 32235235 | 1516 | 1683 | 448 | 504 |
| ENST00000382142 | 5204 | 747 | 32233878 | 32234040 | 1684 | 1845 | 504 | 558 |
| 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 |
| ENST00000382142 | 5204 | 747 | 32235067 | 32235235 | 1516 | 1683 | 448 | 504 |
| ENST00000382142 | 5204 | 747 | 32233878 | 32234040 | 1684 | 1845 | 504 | 558 |
| 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 |
| Q9C0I1 | 448 | 504 | 449 | 558 | Alternative sequence | ID=VSP_030721;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| Q9C0I1 | 448 | 504 | 1 | 747 | Chain | ID=PRO_0000315825;Note=Myotubularin-related protein 12 |
| Q9C0I1 | 448 | 504 | 205 | 643 | Domain | Note=Myotubularin phosphatase;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00669 |
| Q9C0I1 | 448 | 504 | 449 | 558 | Region | Note=Interaction with MTM1;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:12847286;Dbxref=PMID:12847286 |
| Q9C0I1 | 504 | 558 | 449 | 558 | Alternative sequence | ID=VSP_030721;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| Q9C0I1 | 504 | 558 | 505 | 558 | Alternative sequence | ID=VSP_030722;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| Q9C0I1 | 504 | 558 | 1 | 747 | Chain | ID=PRO_0000315825;Note=Myotubularin-related protein 12 |
| Q9C0I1 | 504 | 558 | 205 | 643 | Domain | Note=Myotubularin phosphatase;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00669 |
| Q9C0I1 | 504 | 558 | 449 | 558 | Region | Note=Interaction with MTM1;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:12847286;Dbxref=PMID:12847286 |
| 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 |
| Q9C0I1 | 448 | 504 | 449 | 558 | Alternative sequence | ID=VSP_030721;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| Q9C0I1 | 448 | 504 | 1 | 747 | Chain | ID=PRO_0000315825;Note=Myotubularin-related protein 12 |
| Q9C0I1 | 448 | 504 | 205 | 643 | Domain | Note=Myotubularin phosphatase;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00669 |
| Q9C0I1 | 448 | 504 | 449 | 558 | Region | Note=Interaction with MTM1;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:12847286;Dbxref=PMID:12847286 |
| Q9C0I1 | 504 | 558 | 449 | 558 | Alternative sequence | ID=VSP_030721;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| Q9C0I1 | 504 | 558 | 505 | 558 | Alternative sequence | ID=VSP_030722;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| Q9C0I1 | 504 | 558 | 1 | 747 | Chain | ID=PRO_0000315825;Note=Myotubularin-related protein 12 |
| Q9C0I1 | 504 | 558 | 205 | 643 | Domain | Note=Myotubularin phosphatase;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00669 |
| Q9C0I1 | 504 | 558 | 449 | 558 | Region | Note=Interaction with MTM1;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:12847286;Dbxref=PMID:12847286 |
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SNVs in the skipped exons for MTMR12 |
| - Lollipop plot for presenting exon skipping associated SNVs. * Click on the image to enlarge it in a new window. |
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| - 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-A39Y-01 | exon_skip_441334 | 32233879 | 32234040 | 32233940 | 32233940 | Frame_Shift_Del | T | - | p.N538fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_441337 exon_skip_441341 | 32235068 | 32235235 | 32235080 | 32235080 | Frame_Shift_Del | T | - | p.K500fs |
| STAD | TCGA-VQ-A8E7-01 | exon_skip_441356 | 32271939 | 32272011 | 32271987 | 32271991 | Frame_Shift_Del | TAACC | - | p.KVI102fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_441357 | 32274086 | 32274228 | 32274114 | 32274114 | Frame_Shift_Del | C | - | p.G86fs |
| UCEC | TCGA-BK-A0C9-01 | exon_skip_441342 | 32242163 | 32242233 | 32242217 | 32242218 | Frame_Shift_Ins | - | T | p.K372fs |
| BLCA | TCGA-DK-A1A3-01 | exon_skip_441334 | 32233879 | 32234040 | 32233926 | 32233926 | Nonsense_Mutation | C | A | p.E543* |
| UCEC | TCGA-AX-A05Z-01 | exon_skip_441342 | 32242163 | 32242233 | 32242202 | 32242202 | Nonsense_Mutation | C | A | p.E378* |
| LUSC | TCGA-43-6771-01 | exon_skip_441357 | 32274086 | 32274228 | 32274181 | 32274181 | Nonsense_Mutation | C | A | p.E64* |
| GBM | TCGA-76-4925-01 | exon_skip_441346 | 32255799 | 32255874 | 32255876 | 32255876 | Splice_Site | T | C | p.R238_splice |
| - 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 |
| SNUC5_LARGE_INTESTINE | 32235068 | 32235235 | 32235177 | 32235177 | Frame_Shift_Del | G | - | p.P468fs |
| 2313287_STOMACH | 32263219 | 32263348 | 32263247 | 32263250 | Frame_Shift_Del | CACT | - | p.SV228fs |
| BPH1_PROSTATE | 32235068 | 32235235 | 32235118 | 32235118 | Missense_Mutation | T | C | p.I488V |
| HEC251_ENDOMETRIUM | 32242163 | 32242233 | 32242169 | 32242169 | Missense_Mutation | G | T | p.L389I |
| SNUC5_LARGE_INTESTINE | 32242163 | 32242233 | 32242181 | 32242181 | Missense_Mutation | T | G | p.M385L |
| KMH2_THYROID | 32248108 | 32248232 | 32248227 | 32248227 | Missense_Mutation | T | G | p.Y301S |
| KYSE270_OESOPHAGUS | 32255799 | 32255874 | 32255807 | 32255807 | Missense_Mutation | C | A | p.G261C |
| SNUC2A_LARGE_INTESTINE | 32255799 | 32255874 | 32255821 | 32255821 | Missense_Mutation | C | T | p.R256H |
| KURAMOCHI_OVARY | 32255799 | 32255874 | 32255821 | 32255821 | Missense_Mutation | C | T | p.R256H |
| SNUC2B_LARGE_INTESTINE | 32255799 | 32255874 | 32255821 | 32255821 | Missense_Mutation | C | T | p.R256H |
| P3HR1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 32255799 | 32255874 | 32255839 | 32255839 | Missense_Mutation | G | A | p.P250L |
| JIYOYEP2003_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 32255799 | 32255874 | 32255839 | 32255839 | Missense_Mutation | G | A | p.P250L |
| GB1_CENTRAL_NERVOUS_SYSTEM | 32255799 | 32255874 | 32255843 | 32255843 | Missense_Mutation | G | T | p.L249I |
| MFE319_ENDOMETRIUM | 32255799 | 32255874 | 32255849 | 32255849 | Missense_Mutation | T | C | p.T247A |
| SW756_CERVIX | 32255799 | 32255874 | 32255870 | 32255870 | Missense_Mutation | G | C | p.P240A |
| KARPAS384_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 32263219 | 32263348 | 32263264 | 32263264 | Missense_Mutation | T | C | p.K223R |
| LU134A_LUNG | 32263219 | 32263348 | 32263293 | 32263293 | Missense_Mutation | C | A | p.W213C |
| 8MGBA_CENTRAL_NERVOUS_SYSTEM | 32263219 | 32263348 | 32263297 | 32263297 | Missense_Mutation | C | G | p.C212S |
| NCIH1869_LUNG | 32263219 | 32263348 | 32263320 | 32263320 | Missense_Mutation | C | A | p.M204I |
| SNU1040_LARGE_INTESTINE | 32263219 | 32263348 | 32263325 | 32263325 | Missense_Mutation | C | T | p.V203I |
| TE8_OESOPHAGUS | 32263219 | 32263348 | 32263325 | 32263325 | Missense_Mutation | C | T | p.V203I |
| 2313287_STOMACH | 32268807 | 32268900 | 32268813 | 32268813 | Missense_Mutation | T | C | p.N193D |
| HEC1A_ENDOMETRIUM | 32268807 | 32268900 | 32268862 | 32268862 | Missense_Mutation | T | A | p.K176N |
| SUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 32274086 | 32274228 | 32274105 | 32274106 | Missense_Mutation | TC | AA | p.E89L |
| TCCSUP_URINARY_TRACT | 32274086 | 32274228 | 32274156 | 32274156 | Missense_Mutation | T | A | p.Y72F |
| C32_SKIN | 32274086 | 32274228 | 32274222 | 32274222 | Missense_Mutation | T | A | p.Q50L |
| PSN1_PANCREAS | 32276788 | 32276848 | 32276826 | 32276826 | Missense_Mutation | T | C | p.E35G |
| BICR18_UPPER_AERODIGESTIVE_TRACT | 32276788 | 32276848 | 32276836 | 32276836 | Missense_Mutation | T | C | p.N32D |
| JHUEM1_ENDOMETRIUM | 32248108 | 32248232 | 32248108 | 32248108 | Splice_Site | C | A | p.D341Y |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for MTMR12 |
| 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 MTMR12 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for MTMR12 |
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RelatedDrugs for MTMR12 |
| 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 MTMR12 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
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