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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 MPP1 |
 Gene summary |
| Gene information | Gene symbol | MPP1 | Gene ID | 4354 |
| Gene name | membrane palmitoylated protein 1 | |
| Synonyms | AAG12|DXS552E|EMP55|MRG1|PEMP | |
| Cytomap | Xq28 | |
| Type of gene | protein-coding | |
| Description | 55 kDa erythrocyte membrane proteinaging-associated gene 12erythrocyte membrane protein p55membrane protein, palmitoylated 1, 55kDamigration-related gene 1p55palmitoylated erythrocyte membrane protein | |
| Modification date | 20180522 | |
| UniProtAcc | Q00013 | |
| Context | PubMed: MPP1 [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 MPP1 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 MPP1 |
| 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 MPP1 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_517750 | X | 154011701:154011782:154012302:154012383:154013325:154013432 | 154012302:154012383 | ENSG00000130830.10 | ENST00000439370.1,ENST00000453245.1,ENST00000369534.3,ENST00000462825.1,ENST00000393531.1,ENST00000413259.3 |
| exon_skip_517753 | X | 154013358:154013432:154014478:154014675:154033546:154033672 | 154014478:154014675 | ENSG00000130830.10 | ENST00000453245.1,ENST00000475943.1 |
| exon_skip_517754 | X | 154014640:154014675:154018228:154018297:154019257:154019343 | 154018228:154018297 | ENSG00000130830.10 | ENST00000439370.1,ENST00000417435.1,ENST00000369534.3,ENST00000488694.1,ENST00000488754.1,ENST00000413259.3,ENST00000393529.1 |
| exon_skip_517755 | X | 154014640:154014675:154018228:154018297:154033546:154033672 | 154018228:154018297 | ENSG00000130830.10 | ENST00000428488.1 |
| exon_skip_517757 | X | 154020043:154020122:154020416:154020560:154033546:154033672 | 154020416:154020560 | ENSG00000130830.10 | ENST00000471821.1,ENST00000393531.1 |
| exon_skip_517758 | X | 154020043:154020122:154020467:154020560:154033546:154033672 | 154020467:154020560 | ENSG00000130830.10 | ENST00000369531.1 |
| exon_skip_517759 | X | 154020467:154020560:154028019:154028168:154033546:154033672 | 154028019:154028168 | ENSG00000130830.10 | ENST00000417435.1,ENST00000413259.3 |
| exon_skip_517760 | X | 154020467:154020560:154032971:154033102:154033546:154033672 | 154032971:154033102 | ENSG00000130830.10 | ENST00000439370.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for MPP1 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_517750 | X | 154011701:154011782:154012302:154012383:154013325:154013432 | 154012302:154012383 | ENSG00000130830.10 | ENST00000369534.3,ENST00000413259.3,ENST00000439370.1,ENST00000393531.1,ENST00000453245.1,ENST00000462825.1 |
| exon_skip_517753 | X | 154013358:154013432:154014478:154014675:154033546:154033672 | 154014478:154014675 | ENSG00000130830.10 | ENST00000453245.1,ENST00000475943.1 |
| exon_skip_517754 | X | 154014640:154014675:154018228:154018297:154019257:154019343 | 154018228:154018297 | ENSG00000130830.10 | ENST00000369534.3,ENST00000413259.3,ENST00000439370.1,ENST00000393529.1,ENST00000488754.1,ENST00000417435.1,ENST00000488694.1 |
| exon_skip_517755 | X | 154014640:154014675:154018228:154018297:154033546:154033672 | 154018228:154018297 | ENSG00000130830.10 | ENST00000428488.1 |
| exon_skip_517757 | X | 154020043:154020122:154020416:154020560:154033546:154033672 | 154020416:154020560 | ENSG00000130830.10 | ENST00000393531.1,ENST00000471821.1 |
| exon_skip_517758 | X | 154020043:154020122:154020467:154020560:154033546:154033672 | 154020467:154020560 | ENSG00000130830.10 | ENST00000369531.1 |
| exon_skip_517759 | X | 154020467:154020560:154028019:154028168:154033546:154033672 | 154028019:154028168 | ENSG00000130830.10 | ENST00000413259.3,ENST00000417435.1 |
| exon_skip_517760 | X | 154020467:154020560:154032971:154033102:154033546:154033672 | 154032971:154033102 | ENSG00000130830.10 | ENST00000439370.1 |
| 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 MPP1 |
| 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 |
| ENST00000369534 | 154012302 | 154012383 | In-frame |
| ENST00000369534 | 154018228 | 154018297 | 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 |
| ENST00000369534 | 154012302 | 154012383 | In-frame |
| ENST00000369534 | 154018228 | 154018297 | In-frame |
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Infer the effects of exon skipping event on protein functional features for MPP1 |
| 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 |
| ENST00000369534 | 2059 | 466 | 154018228 | 154018297 | 560 | 628 | 137 | 160 |
| ENST00000369534 | 2059 | 466 | 154012302 | 154012383 | 933 | 1013 | 261 | 288 |
| 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 |
| ENST00000369534 | 2059 | 466 | 154018228 | 154018297 | 560 | 628 | 137 | 160 |
| ENST00000369534 | 2059 | 466 | 154012302 | 154012383 | 933 | 1013 | 261 | 288 |
| 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 |
| Q00013 | 137 | 160 | 142 | 149 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2EJY |
| Q00013 | 137 | 160 | 2 | 466 | Chain | ID=PRO_0000094565;Note=55 kDa erythrocyte membrane protein |
| Q00013 | 137 | 160 | 71 | 152 | Domain | Note=PDZ;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00143 |
| Q00013 | 137 | 160 | 158 | 228 | Domain | Note=SH3;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00192 |
| Q00013 | 137 | 160 | 131 | 139 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2EJY |
| Q00013 | 261 | 288 | 284 | 288 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3NEY |
| Q00013 | 261 | 288 | 2 | 466 | Chain | ID=PRO_0000094565;Note=55 kDa erythrocyte membrane protein |
| Q00013 | 261 | 288 | 282 | 451 | Domain | Note=Guanylate kinase-like;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00100 |
| Q00013 | 261 | 288 | 268 | 466 | Region | Note=Interaction with MPP5;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:17584769;Dbxref=PMID:17584769 |
| 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 |
| Q00013 | 137 | 160 | 142 | 149 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2EJY |
| Q00013 | 137 | 160 | 2 | 466 | Chain | ID=PRO_0000094565;Note=55 kDa erythrocyte membrane protein |
| Q00013 | 137 | 160 | 71 | 152 | Domain | Note=PDZ;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00143 |
| Q00013 | 137 | 160 | 158 | 228 | Domain | Note=SH3;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00192 |
| Q00013 | 137 | 160 | 131 | 139 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2EJY |
| Q00013 | 261 | 288 | 284 | 288 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3NEY |
| Q00013 | 261 | 288 | 2 | 466 | Chain | ID=PRO_0000094565;Note=55 kDa erythrocyte membrane protein |
| Q00013 | 261 | 288 | 282 | 451 | Domain | Note=Guanylate kinase-like;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00100 |
| Q00013 | 261 | 288 | 268 | 466 | Region | Note=Interaction with MPP5;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:17584769;Dbxref=PMID:17584769 |
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SNVs in the skipped exons for MPP1 |
| - 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. |
MPP1_LIHC_exon_skip_517757_psi_boxplot.png |
MPP1_LIHC_exon_skip_517758_psi_boxplot.png |
| - 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 |
| CESC | TCGA-IR-A3LI-01 | exon_skip_517758 exon_skip_517757 | 154020417 | 154020560 | 154020470 | 154020470 | Nonsense_Mutation | C | A | p.E65* |
| CESC | TCGA-IR-A3LI-01 | exon_skip_517758 exon_skip_517757 | 154020468 | 154020560 | 154020470 | 154020470 | Nonsense_Mutation | C | A | p.E65* |
| LIHC | TCGA-DD-AAW1-01 | exon_skip_517758 exon_skip_517757 | 154020417 | 154020560 | 154020561 | 154020561 | Splice_Site | C | T | . |
| LIHC | TCGA-DD-AAW1-01 | exon_skip_517758 exon_skip_517757 | 154020468 | 154020560 | 154020561 | 154020561 | Splice_Site | C | T | . |
| - Depth of coverage in the three exons composing exon skipping event |
| Depth of coverage in three exons | Mutation description |
 | Sample: TCGA-DD-AAW1-01 |
| Cancer type: LIHC | |
| ESID: exon_skip_517757 | |
| Skipped exon start: 154020468 | |
| Skipped exon end: 154020560 | |
| Mutation start: 154020561 | |
| Mutation end: 154020561 | |
| Mutation type: Splice_Site | |
| Reference seq: C | |
| Mutation seq: T | |
| AAchange: . | |
| Sample: TCGA-DD-AAW1-01 |
| Cancer type: LIHC | |
| ESID: exon_skip_517757 | |
| Skipped exon start: 154020417 | |
| Skipped exon end: 154020560 | |
| Mutation start: 154020561 | |
| Mutation end: 154020561 | |
| Mutation type: Splice_Site | |
| Reference seq: C | |
| Mutation seq: T | |
| AAchange: . | |
exon_skip_313342_LIHC_TCGA-DD-AAW1-01.png | |
exon_skip_517757_LIHC_TCGA-DD-AAW1-01.png | |
exon_skip_517758_LIHC_TCGA-DD-AAW1-01.png | |
 | Sample: TCGA-DD-AAW1-01 |
| Cancer type: LIHC | |
| ESID: exon_skip_517757 | |
| Skipped exon start: 154020468 | |
| Skipped exon end: 154020560 | |
| Mutation start: 154020561 | |
| Mutation end: 154020561 | |
| Mutation type: Splice_Site | |
| Reference seq: C | |
| Mutation seq: T | |
| AAchange: . | |
| Sample: TCGA-DD-AAW1-01 |
| Cancer type: LIHC | |
| ESID: exon_skip_517757 | |
| Skipped exon start: 154020417 | |
| Skipped exon end: 154020560 | |
| Mutation start: 154020561 | |
| Mutation end: 154020561 | |
| Mutation type: Splice_Site | |
| Reference seq: C | |
| Mutation seq: T | |
| AAchange: . | |
| exon_skip_313342_LIHC_TCGA-DD-AAW1-01.png | |
| exon_skip_517757_LIHC_TCGA-DD-AAW1-01.png | |
| exon_skip_517758_LIHC_TCGA-DD-AAW1-01.png | |
| - 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 |
| DG75_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 154014479 | 154014675 | 154014638 | 154014638 | Frame_Shift_Del | T | - | p.K173fs |
| RCCJF_KIDNEY | 154014479 | 154014675 | 154014650 | 154014650 | Frame_Shift_Del | T | - | p.Y169fs |
| HT144_SKIN | 154012303 | 154012383 | 154012341 | 154012342 | In_Frame_Ins | - | GAA | p.275_276insL |
| HKA1_SKIN | 154014479 | 154014675 | 154014513 | 154014513 | Missense_Mutation | C | A | p.A215S |
| SNGM_ENDOMETRIUM | 154014479 | 154014675 | 154014533 | 154014533 | Missense_Mutation | T | C | p.E208G |
| HEC251_ENDOMETRIUM | 154014479 | 154014675 | 154014599 | 154014599 | Missense_Mutation | A | C | p.F186C |
| NCIH1666_LUNG | 154014479 | 154014675 | 154014601 | 154014601 | Missense_Mutation | C | G | p.K185N |
| SNUC1_LARGE_INTESTINE | 154020417 | 154020560 | 154020454 | 154020454 | Missense_Mutation | C | A | p.R70L |
| SNU1040_LARGE_INTESTINE | 154020468 | 154020560 | 154020533 | 154020533 | Missense_Mutation | T | C | p.T44A |
| SNU1040_LARGE_INTESTINE | 154020417 | 154020560 | 154020533 | 154020533 | Missense_Mutation | T | C | p.T44A |
| RPMI8866_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 154020468 | 154020560 | 154020553 | 154020553 | Missense_Mutation | G | A | p.S37L |
| RPMI8866_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 154020417 | 154020560 | 154020553 | 154020553 | Missense_Mutation | G | A | p.S37L |
| ESS1_ENDOMETRIUM | 154018229 | 154018297 | 154018294 | 154018294 | Nonsense_Mutation | C | A | p.E139* |
| SNU175_LARGE_INTESTINE | 154020417 | 154020560 | 154020455 | 154020455 | Nonsense_Mutation | G | A | p.R70* |
| AN3CA_ENDOMETRIUM | 154020417 | 154020560 | 154020455 | 154020455 | Nonsense_Mutation | G | A | p.R70* |
| MOLT4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 154012303 | 154012383 | 154012304 | 154012304 | Splice_Site | G | A | p.I288I |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for MPP1 |
| 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 MPP1 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for MPP1 |
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RelatedDrugs for MPP1 |
| 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 MPP1 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| MPP1 | C0001418 | Adenocarcinoma | 1 | CTD_human |
| MPP1 | C0024121 | Lung Neoplasms | 1 | CTD_human |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
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