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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 METTL2A |
Gene summary |
| Gene information | Gene symbol | METTL2A | Gene ID | 339175 |
| Gene name | methyltransferase like 2A | |
| Synonyms | METTL2 | |
| Cytomap | 17q23.2 | |
| Type of gene | protein-coding | |
| Description | methyltransferase-like protein 2A | |
| Modification date | 20180523 | |
| UniProtAcc | Q96IZ6 | |
| Context | PubMed: METTL2A [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 METTL2A 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 METTL2A |
Expression levels of gene isoforms across TCGA. |
Expression levels of gene isoforms across GTEx. |
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Exon skipping events with PSIs in TCGA for METTL2A |
Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_155098 | 17 | 60501579:60501671:60503659:60504015:60505148:60505198 | 60503659:60504015 | ENSG00000087995.11 | ENST00000311506.5,ENST00000333483.10 |
| exon_skip_155099 | 17 | 60505148:60505198:60512592:60512653:60517977:60518117 | 60512592:60512653 | ENSG00000087995.11 | ENST00000311506.5,ENST00000333483.10 |
| exon_skip_155104 | 17 | 60512592:60512653:60517977:60518117:60522197:60522304 | 60517977:60518117 | ENSG00000087995.11 | ENST00000311506.5,ENST00000333483.10 |
| exon_skip_155106 | 17 | 60518101:60518117:60522197:60522304:60525061:60525127 | 60522197:60522304 | ENSG00000087995.11 | ENST00000311506.5,ENST00000333483.10 |
| exon_skip_155111 | 17 | 60522197:60522304:60525061:60525127:60525935:60526006 | 60525061:60525127 | ENSG00000087995.11 | ENST00000311506.5,ENST00000333483.10 |
PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for METTL2A |
Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_155098 | 17 | 60501579:60501671:60503659:60504015:60505148:60505198 | 60503659:60504015 | ENSG00000087995.11 | ENST00000311506.5,ENST00000333483.10 |
| exon_skip_155099 | 17 | 60505148:60505198:60512592:60512653:60517977:60518117 | 60512592:60512653 | ENSG00000087995.11 | ENST00000311506.5,ENST00000333483.10 |
| exon_skip_155104 | 17 | 60512592:60512653:60517977:60518117:60522197:60522304 | 60517977:60518117 | ENSG00000087995.11 | ENST00000311506.5,ENST00000333483.10 |
| exon_skip_155106 | 17 | 60518101:60518117:60522197:60522304:60525061:60525127 | 60522197:60522304 | ENSG00000087995.11 | ENST00000311506.5,ENST00000333483.10 |
| exon_skip_155111 | 17 | 60522197:60522304:60525061:60525127:60525935:60526006 | 60525061:60525127 | ENSG00000087995.11 | ENST00000311506.5,ENST00000333483.10 |
PSI values of skipped exons in GTEx. |
| * Skipped exon sequences. |
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Open reading frame (ORF) annotation in the exon skipping event for METTL2A |
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 |
| ENST00000311506 | 60503659 | 60504015 | Frame-shift |
| ENST00000311506 | 60512592 | 60512653 | Frame-shift |
| ENST00000311506 | 60517977 | 60518117 | Frame-shift |
| ENST00000311506 | 60522197 | 60522304 | Frame-shift |
| ENST00000311506 | 60525061 | 60525127 | 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 |
| ENST00000311506 | 60503659 | 60504015 | Frame-shift |
| ENST00000311506 | 60512592 | 60512653 | Frame-shift |
| ENST00000311506 | 60517977 | 60518117 | Frame-shift |
| ENST00000311506 | 60522197 | 60522304 | Frame-shift |
| ENST00000311506 | 60525061 | 60525127 | In-frame |
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Infer the effects of exon skipping event on protein functional features for METTL2A |
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 |
| ENST00000311506 | 2554 | 378 | 60525061 | 60525127 | 953 | 1018 | 305 | 327 |
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 |
| ENST00000311506 | 2554 | 378 | 60525061 | 60525127 | 953 | 1018 | 305 | 327 |
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 |
| Q96IZ6 | 305 | 327 | 2 | 378 | Chain | ID=PRO_0000204452;Note=Methyltransferase-like protein 2A |
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 |
| Q96IZ6 | 305 | 327 | 2 | 378 | Chain | ID=PRO_0000204452;Note=Methyltransferase-like protein 2A |
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SNVs in the skipped exons for METTL2A |
- Lollipop plot for presenting exon skipping associated SNVs.* Click on the image to enlarge it in a new window. |
- Differential PSIs between mutated versus non-mutated samples. |
METTL2A_LGG_exon_skip_155098_psi_boxplot.png![]() |
METTL2A_LIHC_exon_skip_155106_psi_boxplot.png![]() |
METTL2A_READ_exon_skip_155098_psi_boxplot.png![]() |
METTL2A_STAD_exon_skip_155106_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 |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_155098 | 60503660 | 60504015 | 60503714 | 60503714 | Frame_Shift_Del | A | - | p.E86fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_155106 | 60522198 | 60522304 | 60522298 | 60522298 | Frame_Shift_Del | A | - | p.K305fs |
| BRCA | TCGA-AR-A0TR-01 | exon_skip_155099 | 60512593 | 60512653 | 60512605 | 60512606 | Frame_Shift_Ins | - | T | p.V208fs |
| STAD | TCGA-BR-8487-01 | exon_skip_155106 | 60522198 | 60522304 | 60522297 | 60522298 | Frame_Shift_Ins | - | A | p.F303fs |
| STAD | TCGA-BR-8487-01 | exon_skip_155106 | 60522198 | 60522304 | 60522298 | 60522299 | Frame_Shift_Ins | - | A | p.F303fs |
| READ | TCGA-DY-A0XA-01 | exon_skip_155098 | 60503660 | 60504015 | 60503802 | 60503802 | Nonsense_Mutation | G | A | p.W115X |
| LGG | TCGA-DU-6392-01 | exon_skip_155098 | 60503660 | 60504015 | 60504004 | 60504004 | Nonsense_Mutation | C | T | p.R183* |
| STAD | TCGA-R5-A7ZE-01 | exon_skip_155106 | 60522198 | 60522304 | 60522259 | 60522259 | Nonsense_Mutation | C | T | p.R291X |
| BLCA | TCGA-FD-A6TG-01 | exon_skip_155111 | 60525062 | 60525127 | 60525064 | 60525064 | Nonsense_Mutation | C | T | p.Q307* |
- Depth of coverage in the three exons composing exon skipping event |
- 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 |
| SNU626_CENTRAL_NERVOUS_SYSTEM | 60512593 | 60512653 | 60512623 | 60512623 | Frame_Shift_Del | T | - | p.D213fs |
| MFE319_ENDOMETRIUM | 60503660 | 60504015 | 60503738 | 60503738 | Missense_Mutation | A | G | p.H94R |
| MCC13_SKIN | 60503660 | 60504015 | 60503758 | 60503758 | Missense_Mutation | C | T | p.P101S |
| MZ7MEL_SKIN | 60503660 | 60504015 | 60503758 | 60503758 | Missense_Mutation | C | T | p.P101S |
| SNU81_LARGE_INTESTINE | 60503660 | 60504015 | 60503778 | 60503778 | Missense_Mutation | A | C | p.Q107H |
| BT474_BREAST | 60503660 | 60504015 | 60503817 | 60503817 | Missense_Mutation | G | C | p.K120N |
| SNGM_ENDOMETRIUM | 60503660 | 60504015 | 60503996 | 60503996 | Missense_Mutation | C | T | p.A180V |
| SKMEL31_SKIN | 60503660 | 60504015 | 60504002 | 60504002 | Missense_Mutation | A | G | p.Y182C |
| ECGI10_OESOPHAGUS | 60517978 | 60518117 | 60517995 | 60517995 | Missense_Mutation | T | A | p.D229E |
| SNGM_ENDOMETRIUM | 60517978 | 60518117 | 60518060 | 60518060 | Missense_Mutation | A | G | p.K251R |
| OCUBM_BREAST | 60522198 | 60522304 | 60522200 | 60522200 | Missense_Mutation | T | C | p.M271T |
| RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 60522198 | 60522304 | 60522214 | 60522214 | Missense_Mutation | A | G | p.N276D |
| LS411N_LARGE_INTESTINE | 60525062 | 60525127 | 60525088 | 60525088 | Missense_Mutation | G | A | p.V315M |
| NCIH82_LUNG | 60525062 | 60525127 | 60525122 | 60525122 | Missense_Mutation | C | A | p.T326K |
| DND41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 60503660 | 60504015 | 60503690 | 60503690 | Nonsense_Mutation | G | A | p.W78* |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for METTL2A |
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 METTL2A |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for METTL2A |
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RelatedDrugs for METTL2A |
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 METTL2A |
Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |