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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 MAMSTR |
 Gene summary |
| Gene information | Gene symbol | MAMSTR | Gene ID | 284358 |
| Gene name | MEF2 activating motif and SAP domain containing transcriptional regulator | |
| Synonyms | MASTR | |
| Cytomap | 19q13.33 | |
| Type of gene | protein-coding | |
| Description | MEF2-activating motif and SAP domain-containing transcriptional regulatorMEF2-activating SAP transcriptional regulatory proteinlikely ortholog of MEF2-activating SAP transcriptional regulator | |
| Modification date | 20180523 | |
| UniProtAcc | Q6ZN01 | |
| Context | PubMed: MAMSTR [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 MAMSTR 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 MAMSTR |
| 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 MAMSTR |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_320385 | 19 | 49216254:49216807:49216972:49217027:49217116:49217302 | 49216972:49217027 | ENSG00000176909.7 | ENST00000356751.4,ENST00000419611.1,ENST00000377367.3,ENST00000318083.6,ENST00000594582.1 |
| exon_skip_320387 | 19 | 49217116:49217302:49217622:49217817:49218062:49218130 | 49217622:49217817 | ENSG00000176909.7 | ENST00000356751.4,ENST00000419611.1,ENST00000318083.6 |
| exon_skip_320391 | 19 | 49217116:49217302:49218062:49218165:49218518:49218703 | 49218062:49218165 | ENSG00000176909.7 | ENST00000377367.3,ENST00000594582.1 |
| exon_skip_320393 | 19 | 49217622:49217817:49218062:49218165:49218518:49218703 | 49218062:49218165 | ENSG00000176909.7 | ENST00000356751.4,ENST00000419611.1,ENST00000318083.6 |
| exon_skip_320394 | 19 | 49218881:49219024:49219961:49220000:49222230:49222309 | 49219961:49220000 | ENSG00000176909.7 | ENST00000419611.1,ENST00000377367.3,ENST00000318083.6 |
| exon_skip_320395 | 19 | 49218881:49219174:49219961:49220000:49222230:49222309 | 49219961:49220000 | ENSG00000176909.7 | ENST00000599703.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for MAMSTR |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_320385 | 19 | 49216254:49216807:49216972:49217027:49217116:49217302 | 49216972:49217027 | ENSG00000176909.7 | ENST00000318083.6,ENST00000356751.4,ENST00000594582.1,ENST00000419611.1,ENST00000377367.3 |
| exon_skip_320387 | 19 | 49217116:49217302:49217622:49217817:49218062:49218130 | 49217622:49217817 | ENSG00000176909.7 | ENST00000318083.6,ENST00000356751.4,ENST00000419611.1 |
| exon_skip_320391 | 19 | 49217116:49217302:49218062:49218165:49218518:49218703 | 49218062:49218165 | ENSG00000176909.7 | ENST00000594582.1,ENST00000377367.3 |
| exon_skip_320393 | 19 | 49217622:49217817:49218062:49218165:49218518:49218703 | 49218062:49218165 | ENSG00000176909.7 | ENST00000318083.6,ENST00000356751.4,ENST00000419611.1 |
| exon_skip_320394 | 19 | 49218881:49219024:49219961:49220000:49222230:49222309 | 49219961:49220000 | ENSG00000176909.7 | ENST00000318083.6,ENST00000419611.1,ENST00000377367.3 |
| exon_skip_320395 | 19 | 49218881:49219174:49219961:49220000:49222230:49222309 | 49219961:49220000 | ENSG00000176909.7 | ENST00000599703.1 |
| 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 MAMSTR |
| 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 |
| ENST00000318083 | 49216972 | 49217027 | Frame-shift |
| ENST00000318083 | 49218062 | 49218165 | Frame-shift |
| ENST00000318083 | 49217622 | 49217817 | In-frame |
| ENST00000318083 | 49219961 | 49220000 | 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 |
| ENST00000318083 | 49216972 | 49217027 | Frame-shift |
| ENST00000318083 | 49218062 | 49218165 | Frame-shift |
| ENST00000318083 | 49217622 | 49217817 | In-frame |
| ENST00000318083 | 49219961 | 49220000 | In-frame |
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Infer the effects of exon skipping event on protein functional features for MAMSTR |
| 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 |
| ENST00000318083 | 1854 | 415 | 49219961 | 49220000 | 123 | 161 | 19 | 32 |
| ENST00000318083 | 1854 | 415 | 49217622 | 49217817 | 593 | 787 | 176 | 241 |
| 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 |
| ENST00000318083 | 1854 | 415 | 49219961 | 49220000 | 123 | 161 | 19 | 32 |
| ENST00000318083 | 1854 | 415 | 49217622 | 49217817 | 593 | 787 | 176 | 241 |
| 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 |
| Q6ZN01 | 19 | 32 | 1 | 103 | Alternative sequence | ID=VSP_031554;Note=In isoform 2 and isoform 3. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:14702039,ECO:0000303|PubMed:15489334;Dbxref=PMID:14702039,PMID:15489334 |
| Q6ZN01 | 19 | 32 | 1 | 415 | Chain | ID=PRO_0000319981;Note=MEF2-activating motif and SAP domain-containing transcriptional regulator |
| Q6ZN01 | 19 | 32 | 12 | 28 | Motif | Note=MEF2-binding;Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| Q6ZN01 | 176 | 241 | 178 | 242 | Alternative sequence | ID=VSP_031555;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| Q6ZN01 | 176 | 241 | 1 | 415 | Chain | ID=PRO_0000319981;Note=MEF2-activating motif and SAP domain-containing transcriptional regulator |
| Q6ZN01 | 176 | 241 | 36 | 392 | Compositional bias | Note=Pro-rich |
| Q6ZN01 | 176 | 241 | 172 | 206 | Domain | Note=SAP;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00186 |
| Q6ZN01 | 176 | 241 | 215 | 415 | Region | Note=Transcription activation;Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| 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 |
| Q6ZN01 | 19 | 32 | 1 | 103 | Alternative sequence | ID=VSP_031554;Note=In isoform 2 and isoform 3. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:14702039,ECO:0000303|PubMed:15489334;Dbxref=PMID:14702039,PMID:15489334 |
| Q6ZN01 | 19 | 32 | 1 | 415 | Chain | ID=PRO_0000319981;Note=MEF2-activating motif and SAP domain-containing transcriptional regulator |
| Q6ZN01 | 19 | 32 | 12 | 28 | Motif | Note=MEF2-binding;Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| Q6ZN01 | 176 | 241 | 178 | 242 | Alternative sequence | ID=VSP_031555;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| Q6ZN01 | 176 | 241 | 1 | 415 | Chain | ID=PRO_0000319981;Note=MEF2-activating motif and SAP domain-containing transcriptional regulator |
| Q6ZN01 | 176 | 241 | 36 | 392 | Compositional bias | Note=Pro-rich |
| Q6ZN01 | 176 | 241 | 172 | 206 | Domain | Note=SAP;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00186 |
| Q6ZN01 | 176 | 241 | 215 | 415 | Region | Note=Transcription activation;Ontology_term=ECO:0000250;evidence=ECO:0000250 |
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SNVs in the skipped exons for MAMSTR |
| - 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 |
| COAD | TCGA-CM-6162-01 | exon_skip_320391 exon_skip_320393 | 49218063 | 49218165 | 49218106 | 49218106 | Frame_Shift_Del | G | - | p.P162fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_320391 exon_skip_320393 | 49218063 | 49218165 | 49218106 | 49218106 | Frame_Shift_Del | G | - | p.P162fs |
| PAAD | TCGA-IB-7651-01 | exon_skip_320391 exon_skip_320393 | 49218063 | 49218165 | 49218106 | 49218106 | Frame_Shift_Del | G | - | p.P162fs |
| COAD | TCGA-AA-3713-01 | exon_skip_320391 exon_skip_320393 | 49218063 | 49218165 | 49218105 | 49218106 | Frame_Shift_Ins | - | G | p.P162fs |
| STAD | TCGA-BR-4362-01 | exon_skip_320391 exon_skip_320393 | 49218063 | 49218165 | 49218106 | 49218107 | Frame_Shift_Ins | - | G | p.P162fs |
| STAD | TCGA-BR-6852-01 | exon_skip_320391 exon_skip_320393 | 49218063 | 49218165 | 49218106 | 49218107 | Frame_Shift_Ins | - | G | p.P162fs |
| STAD | TCGA-BR-8360-01 | exon_skip_320391 exon_skip_320393 | 49218063 | 49218165 | 49218106 | 49218107 | Frame_Shift_Ins | - | G | p.P162fs |
| STAD | TCGA-HU-A4GX-01 | exon_skip_320391 exon_skip_320393 | 49218063 | 49218165 | 49218106 | 49218107 | Frame_Shift_Ins | - | G | p.P162fs |
| - 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 | 49218063 | 49218165 | 49218106 | 49218106 | Frame_Shift_Del | G | - | p.P162fs |
| HEC6_ENDOMETRIUM | 49218063 | 49218165 | 49218106 | 49218106 | Frame_Shift_Del | G | - | p.P162fs |
| JHUEM2_ENDOMETRIUM | 49218063 | 49218165 | 49218106 | 49218106 | Frame_Shift_Del | G | - | p.P162fs |
| IGROV1_OVARY | 49218063 | 49218165 | 49218106 | 49218106 | Frame_Shift_Del | G | - | p.P162fs |
| SW1783_CENTRAL_NERVOUS_SYSTEM | 49218063 | 49218165 | 49218077 | 49218078 | Frame_Shift_Ins | - | T | p.L172fs |
| KCL22_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 49217623 | 49217817 | 49217639 | 49217639 | Missense_Mutation | G | A | p.A236V |
| HCC1395_MATCHED_NORMAL_TISSUE | 49217623 | 49217817 | 49217700 | 49217700 | Missense_Mutation | G | T | p.R216S |
| HCC1395_MATCHED_NORMAL_TISSUE | 49217623 | 49217817 | 49217711 | 49217711 | Missense_Mutation | G | T | p.P212Q |
| HCC515_LUNG | 49217623 | 49217817 | 49217721 | 49217721 | Missense_Mutation | G | A | p.R209C |
| DIFI_LARGE_INTESTINE | 49217623 | 49217817 | 49217726 | 49217726 | Missense_Mutation | G | A | p.P207L |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for MAMSTR |
| 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 MAMSTR |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for MAMSTR |
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RelatedDrugs for MAMSTR |
| 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 MAMSTR |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
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