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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 MAN1A2 |
 Gene summary |
| Gene information | Gene symbol | MAN1A2 | Gene ID | 10905 |
| Gene name | mannosidase alpha class 1A member 2 | |
| Synonyms | MAN1B | |
| Cytomap | 1p12 | |
| Type of gene | protein-coding | |
| Description | mannosyl-oligosaccharide 1,2-alpha-mannosidase IBalpha-1,2-mannosidase IBalpha1,2-mannosidaseprocessing alpha-1,2-mannosidase IB | |
| Modification date | 20180523 | |
| UniProtAcc | O60476 | |
| Context | PubMed: MAN1A2 [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 MAN1A2 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 MAN1A2 |
| 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 MAN1A2 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_9124 | 1 | 117957334:117957453:117963190:117963271:117984852:117984947 | 117963190:117963271 | ENSG00000198162.8 | ENST00000356554.3 |
| exon_skip_9125 | 1 | 117963218:117963271:117984852:117984947:118003110:118003234 | 117984852:117984947 | ENSG00000198162.8 | ENST00000449370.2,ENST00000356554.3 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for MAN1A2 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_9121 | 1 | 117910564:117911107:117957334:117957453:117963190:117963252 | 117957334:117957453 | ENSG00000198162.8 | ENST00000482811.1 |
| exon_skip_9124 | 1 | 117957334:117957453:117963190:117963271:117984852:117984947 | 117963190:117963271 | ENSG00000198162.8 | ENST00000356554.3 |
| exon_skip_9125 | 1 | 117963218:117963271:117984852:117984947:118003110:118003234 | 117984852:117984947 | ENSG00000198162.8 | ENST00000356554.3,ENST00000449370.2 |
| 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 MAN1A2 |
| 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 |
| ENST00000356554 | 117984852 | 117984947 | Frame-shift |
| ENST00000356554 | 117963190 | 117963271 | 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 |
| ENST00000356554 | 117984852 | 117984947 | Frame-shift |
| ENST00000356554 | 117963190 | 117963271 | In-frame |
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Infer the effects of exon skipping event on protein functional features for MAN1A2 |
| 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 |
| ENST00000356554 | 8593 | 641 | 117963190 | 117963271 | 1510 | 1590 | 258 | 285 |
| 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 |
| ENST00000356554 | 8593 | 641 | 117963190 | 117963271 | 1510 | 1590 | 258 | 285 |
| 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 |
| O60476 | 258 | 285 | 2 | 641 | Chain | ID=PRO_0000210312;Note=Mannosyl-oligosaccharide 1%2C2-alpha-mannosidase IB |
| O60476 | 258 | 285 | 58 | 641 | Topological domain | Note=Lumenal;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| 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 |
| O60476 | 258 | 285 | 2 | 641 | Chain | ID=PRO_0000210312;Note=Mannosyl-oligosaccharide 1%2C2-alpha-mannosidase IB |
| O60476 | 258 | 285 | 58 | 641 | Topological domain | Note=Lumenal;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
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SNVs in the skipped exons for MAN1A2 |
| - 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 |
| - 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 |
| MPP89_PLEURA | 117963191 | 117963271 | 117963200 | 117963200 | Missense_Mutation | G | A | p.V262M |
| H9_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 117984853 | 117984947 | 117984880 | 117984880 | Missense_Mutation | G | A | p.A295T |
| HUT78_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 117984853 | 117984947 | 117984880 | 117984880 | Missense_Mutation | G | A | p.A295T |
| AN3CA_ENDOMETRIUM | 117984853 | 117984947 | 117984890 | 117984890 | Missense_Mutation | T | C | p.L298P |
| NCIH446_LUNG | 117963191 | 117963271 | 117963256 | 117963256 | Nonsense_Mutation | C | A | p.Y280* |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for MAN1A2 |
| 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 MAN1A2 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for MAN1A2 |
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RelatedDrugs for MAN1A2 |
| 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 MAN1A2 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
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