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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 M1AP |
 Gene summary |
| Gene information | Gene symbol | M1AP | Gene ID | 130951 |
| Gene name | meiosis 1 associated protein | |
| Synonyms | C2orf65|D6Mm5e|SPATA37 | |
| Cytomap | 2p13.1 | |
| Type of gene | protein-coding | |
| Description | meiosis 1 arrest proteinmeiosis 1 arresting proteinspermatogenesis associated 37 | |
| Modification date | 20180519 | |
| UniProtAcc | Q8TC57 | |
| Context | PubMed: M1AP [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 M1AP 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 M1AP |
| 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 M1AP |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_340462 | 2 | 74785842:74786001:74786824:74786836:74787277:74787418 | 74786824:74786836 | ENSG00000159374.13 | ENST00000358434.2,ENST00000290536.5 |
| exon_skip_340464 | 2 | 74785842:74786001:74787277:74787418:74789343:74789550 | 74787277:74787418 | ENSG00000159374.13 | ENST00000464686.1,ENST00000409585.1,ENST00000536235.1 |
| exon_skip_340467 | 2 | 74786824:74786836:74787277:74787418:74789343:74789550 | 74787277:74787418 | ENSG00000159374.13 | ENST00000290536.5 |
| exon_skip_340468 | 2 | 74787277:74787418:74789343:74789550:74802564:74802616 | 74789343:74789550 | ENSG00000159374.13 | ENST00000464686.1,ENST00000409585.1,ENST00000290536.5,ENST00000536235.1 |
| exon_skip_340469 | 2 | 74803582:74803745:74808800:74808974:74834181:74834350 | 74808800:74808974 | ENSG00000159374.13 | ENST00000358434.2,ENST00000409585.1,ENST00000290536.5,ENST00000536235.1 |
| exon_skip_340470 | 2 | 74808921:74808974:74834181:74834350:74842090:74842276 | 74834181:74834350 | ENSG00000159374.13 | ENST00000358434.2,ENST00000409585.1,ENST00000290536.5,ENST00000536235.1 |
| exon_skip_340472 | 2 | 74808921:74808974:74842090:74842276:74867162:74867454 | 74842090:74842276 | ENSG00000159374.13 | ENST00000422394.1 |
| exon_skip_340473 | 2 | 74834280:74834350:74842090:74842276:74867162:74867454 | 74842090:74842276 | ENSG00000159374.13 | ENST00000358434.2,ENST00000409585.1,ENST00000290536.5,ENST00000536235.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for M1AP |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_340462 | 2 | 74785842:74786001:74786824:74786836:74787277:74787418 | 74786824:74786836 | ENSG00000159374.13 | ENST00000290536.5,ENST00000358434.2 |
| exon_skip_340464 | 2 | 74785842:74786001:74787277:74787418:74789343:74789550 | 74787277:74787418 | ENSG00000159374.13 | ENST00000464686.1,ENST00000409585.1,ENST00000536235.1 |
| exon_skip_340467 | 2 | 74786824:74786836:74787277:74787418:74789343:74789550 | 74787277:74787418 | ENSG00000159374.13 | ENST00000290536.5 |
| exon_skip_340468 | 2 | 74787277:74787418:74789343:74789550:74802564:74802616 | 74789343:74789550 | ENSG00000159374.13 | ENST00000290536.5,ENST00000464686.1,ENST00000409585.1,ENST00000536235.1 |
| exon_skip_340469 | 2 | 74803582:74803745:74808800:74808974:74834181:74834350 | 74808800:74808974 | ENSG00000159374.13 | ENST00000290536.5,ENST00000409585.1,ENST00000536235.1,ENST00000358434.2 |
| exon_skip_340470 | 2 | 74808921:74808974:74834181:74834350:74842090:74842276 | 74834181:74834350 | ENSG00000159374.13 | ENST00000290536.5,ENST00000409585.1,ENST00000536235.1,ENST00000358434.2 |
| exon_skip_340472 | 2 | 74808921:74808974:74842090:74842276:74867162:74867454 | 74842090:74842276 | ENSG00000159374.13 | ENST00000422394.1 |
| exon_skip_340473 | 2 | 74834280:74834350:74842090:74842276:74867162:74867454 | 74842090:74842276 | ENSG00000159374.13 | ENST00000290536.5,ENST00000409585.1,ENST00000536235.1,ENST00000358434.2 |
| 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 M1AP |
| 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 |
| ENST00000290536 | 74834181 | 74834350 | Frame-shift |
| ENST00000290536 | 74786824 | 74786836 | In-frame |
| ENST00000290536 | 74787277 | 74787418 | In-frame |
| ENST00000290536 | 74789343 | 74789550 | In-frame |
| ENST00000290536 | 74808800 | 74808974 | In-frame |
| ENST00000290536 | 74842090 | 74842276 | 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 |
| ENST00000290536 | 74834181 | 74834350 | Frame-shift |
| ENST00000290536 | 74786824 | 74786836 | In-frame |
| ENST00000290536 | 74787277 | 74787418 | In-frame |
| ENST00000290536 | 74789343 | 74789550 | In-frame |
| ENST00000290536 | 74808800 | 74808974 | In-frame |
| ENST00000290536 | 74842090 | 74842276 | In-frame |
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Infer the effects of exon skipping event on protein functional features for M1AP |
| 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 |
| ENST00000290536 | 2560 | 530 | 74842090 | 74842276 | 358 | 543 | 80 | 142 |
| ENST00000290536 | 2560 | 530 | 74808800 | 74808974 | 713 | 886 | 198 | 256 |
| ENST00000290536 | 2560 | 530 | 74789343 | 74789550 | 1192 | 1398 | 358 | 427 |
| ENST00000290536 | 2560 | 530 | 74787277 | 74787418 | 1399 | 1539 | 427 | 474 |
| 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 |
| ENST00000290536 | 2560 | 530 | 74842090 | 74842276 | 358 | 543 | 80 | 142 |
| ENST00000290536 | 2560 | 530 | 74808800 | 74808974 | 713 | 886 | 198 | 256 |
| ENST00000290536 | 2560 | 530 | 74789343 | 74789550 | 1192 | 1398 | 358 | 427 |
| ENST00000290536 | 2560 | 530 | 74787277 | 74787418 | 1399 | 1539 | 427 | 474 |
| 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 |
| Q8TC57 | 80 | 142 | 1 | 282 | Alternative sequence | ID=VSP_035291;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| Q8TC57 | 80 | 142 | 1 | 530 | Chain | ID=PRO_0000349268;Note=Meiosis 1 arrest protein |
| Q8TC57 | 198 | 256 | 1 | 282 | Alternative sequence | ID=VSP_035291;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| Q8TC57 | 198 | 256 | 1 | 530 | Chain | ID=PRO_0000349268;Note=Meiosis 1 arrest protein |
| Q8TC57 | 358 | 427 | 359 | 427 | Alternative sequence | ID=VSP_035292;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| Q8TC57 | 358 | 427 | 359 | 365 | Alternative sequence | ID=VSP_035293;Note=In isoform 2. KREWLLL->VSTHVPR;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| Q8TC57 | 358 | 427 | 366 | 530 | Alternative sequence | ID=VSP_035294;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| Q8TC57 | 358 | 427 | 1 | 530 | Chain | ID=PRO_0000349268;Note=Meiosis 1 arrest protein |
| Q8TC57 | 358 | 427 | 359 | 359 | Sequence conflict | Note=K->E;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q8TC57 | 427 | 474 | 359 | 427 | Alternative sequence | ID=VSP_035292;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| Q8TC57 | 427 | 474 | 366 | 530 | Alternative sequence | ID=VSP_035294;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| Q8TC57 | 427 | 474 | 474 | 477 | Alternative sequence | ID=VSP_055677;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| Q8TC57 | 427 | 474 | 1 | 530 | Chain | ID=PRO_0000349268;Note=Meiosis 1 arrest protein |
| 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 |
| Q8TC57 | 80 | 142 | 1 | 282 | Alternative sequence | ID=VSP_035291;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| Q8TC57 | 80 | 142 | 1 | 530 | Chain | ID=PRO_0000349268;Note=Meiosis 1 arrest protein |
| Q8TC57 | 198 | 256 | 1 | 282 | Alternative sequence | ID=VSP_035291;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| Q8TC57 | 198 | 256 | 1 | 530 | Chain | ID=PRO_0000349268;Note=Meiosis 1 arrest protein |
| Q8TC57 | 358 | 427 | 359 | 427 | Alternative sequence | ID=VSP_035292;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| Q8TC57 | 358 | 427 | 359 | 365 | Alternative sequence | ID=VSP_035293;Note=In isoform 2. KREWLLL->VSTHVPR;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| Q8TC57 | 358 | 427 | 366 | 530 | Alternative sequence | ID=VSP_035294;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| Q8TC57 | 358 | 427 | 1 | 530 | Chain | ID=PRO_0000349268;Note=Meiosis 1 arrest protein |
| Q8TC57 | 358 | 427 | 359 | 359 | Sequence conflict | Note=K->E;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q8TC57 | 427 | 474 | 359 | 427 | Alternative sequence | ID=VSP_035292;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| Q8TC57 | 427 | 474 | 366 | 530 | Alternative sequence | ID=VSP_035294;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| Q8TC57 | 427 | 474 | 474 | 477 | Alternative sequence | ID=VSP_055677;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| Q8TC57 | 427 | 474 | 1 | 530 | Chain | ID=PRO_0000349268;Note=Meiosis 1 arrest protein |
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SNVs in the skipped exons for M1AP |
| - 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_340469 | 74808801 | 74808974 | 74808898 | 74808898 | Frame_Shift_Del | T | - | p.K224fs |
| STAD | TCGA-HF-7132-01 | exon_skip_340468 | 74789344 | 74789550 | 74789519 | 74789520 | Frame_Shift_Ins | - | C | p.E369fs |
| BLCA | TCGA-FJ-A3Z7-01 | exon_skip_340470 | 74834182 | 74834350 | 74834257 | 74834257 | Nonsense_Mutation | G | A | p.Q174* |
| - 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 |
| NCIH2342_LUNG | 74789344 | 74789550 | 74789401 | 74789401 | Frame_Shift_Del | G | - | p.P408fs |
| HEC59_ENDOMETRIUM | 74787278 | 74787418 | 74787342 | 74787342 | Missense_Mutation | C | G | p.S453T |
| L82_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 74787278 | 74787418 | 74787363 | 74787363 | Missense_Mutation | C | T | p.S446N |
| SNU1077_ENDOMETRIUM | 74787278 | 74787418 | 74787399 | 74787399 | Missense_Mutation | T | A | p.E434V |
| YT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 74789344 | 74789550 | 74789354 | 74789354 | Missense_Mutation | T | G | p.K424T |
| CW2_LARGE_INTESTINE | 74789344 | 74789550 | 74789397 | 74789397 | Missense_Mutation | T | C | p.T410A |
| SNU719_STOMACH | 74789344 | 74789550 | 74789409 | 74789409 | Missense_Mutation | T | G | p.M406L |
| MKN74_STOMACH | 74789344 | 74789550 | 74789418 | 74789418 | Missense_Mutation | G | A | p.R403W |
| KALS1_CENTRAL_NERVOUS_SYSTEM | 74789344 | 74789550 | 74789420 | 74789420 | Missense_Mutation | G | A | p.T402M |
| OCUM1_STOMACH | 74808801 | 74808974 | 74808812 | 74808812 | Missense_Mutation | C | T | p.R253K |
| CTV1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 74808801 | 74808974 | 74808829 | 74808829 | Missense_Mutation | G | T | p.S247R |
| MCC13_SKIN | 74808801 | 74808974 | 74808904 | 74808904 | Missense_Mutation | G | T | p.F222L |
| SKMEL30_SKIN | 74808801 | 74808974 | 74808908 | 74808908 | Missense_Mutation | A | G | p.I221T |
| MCC13_SKIN | 74808801 | 74808974 | 74808912 | 74808912 | Missense_Mutation | C | T | p.E220K |
| P30OHK_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 74834182 | 74834350 | 74834251 | 74834251 | Missense_Mutation | C | T | p.V176I |
| HEC1A_ENDOMETRIUM | 74834182 | 74834350 | 74834271 | 74834271 | Missense_Mutation | C | A | p.R169I |
| NCIH2882_LUNG | 74834182 | 74834350 | 74834302 | 74834302 | Missense_Mutation | C | T | p.E159K |
| NCIH2227_LUNG | 74834182 | 74834350 | 74834348 | 74834348 | Missense_Mutation | A | C | p.I143M |
| HCT15_LARGE_INTESTINE | 74842091 | 74842276 | 74842154 | 74842154 | Missense_Mutation | C | A | p.Q121H |
| HCC2935_LUNG | 74789344 | 74789550 | 74789520 | 74789520 | Nonsense_Mutation | C | A | p.E369* |
| NCIH322_LUNG | 74842091 | 74842276 | 74842147 | 74842147 | Nonsense_Mutation | T | A | p.K124* |
| KMH2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 74789344 | 74789550 | 74789538 | 74789552 | Splice_Site | GCCATTCCCTTTTCT | - | p.RKGNG359del |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for M1AP |
| 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 M1AP |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for M1AP |
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RelatedDrugs for M1AP |
| 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 M1AP |
| 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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