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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 METTL2B |
Gene summary |
| Gene information | Gene symbol | METTL2B | Gene ID | 55798 |
| Gene name | methyltransferase like 2B | |
| Synonyms | METL|METTL2|METTL2A|PSENIP1 | |
| Cytomap | 7q32.1 | |
| Type of gene | protein-coding | |
| Description | methyltransferase-like protein 2B | |
| Modification date | 20180523 | |
| UniProtAcc | Q6P1Q9 | |
| Context | PubMed: METTL2B [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 METTL2B 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 METTL2B |
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 METTL2B |
Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_470976 | 7 | 128116807:128116929:128117135:128117227:128119211:128119567 | 128117135:128117227 | ENSG00000165055.11 | ENST00000262432.8 |
| exon_skip_470977 | 7 | 128117135:128117227:128118002:128118046:128119211:128119567 | 128118002:128118046 | ENSG00000165055.11 | ENST00000497665.1 |
| exon_skip_470978 | 7 | 128120700:128120750:128128154:128128215:128133857:128133997 | 128128154:128128215 | ENSG00000165055.11 | ENST00000497665.1,ENST00000262432.8,ENST00000482555.1,ENST00000480046.1 |
| exon_skip_470983 | 7 | 128128154:128128215:128133857:128133997:128138089:128138196 | 128133857:128133997 | ENSG00000165055.11 | ENST00000497665.1,ENST00000262432.8,ENST00000482555.1,ENST00000480046.1 |
| exon_skip_470986 | 7 | 128133896:128133997:128138089:128138196:128140956:128141022 | 128138089:128138196 | ENSG00000165055.11 | ENST00000262432.8,ENST00000481392.1,ENST00000482555.1,ENST00000480046.1 |
| exon_skip_470988 | 7 | 128138089:128138196:128140956:128141022:128141815:128141886 | 128140956:128141022 | ENSG00000165055.11 | ENST00000262432.8,ENST00000481392.1,ENST00000482555.1,ENST00000480046.1 |
PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for METTL2B |
Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_470976 | 7 | 128116807:128116929:128117135:128117227:128119211:128119567 | 128117135:128117227 | ENSG00000165055.11 | ENST00000262432.8 |
| exon_skip_470977 | 7 | 128117135:128117227:128118002:128118046:128119211:128119567 | 128118002:128118046 | ENSG00000165055.11 | ENST00000497665.1 |
| exon_skip_470978 | 7 | 128120700:128120750:128128154:128128215:128133857:128133997 | 128128154:128128215 | ENSG00000165055.11 | ENST00000482555.1,ENST00000262432.8,ENST00000497665.1,ENST00000480046.1 |
| exon_skip_470983 | 7 | 128128154:128128215:128133857:128133997:128138089:128138196 | 128133857:128133997 | ENSG00000165055.11 | ENST00000482555.1,ENST00000262432.8,ENST00000497665.1,ENST00000480046.1 |
| exon_skip_470986 | 7 | 128133896:128133997:128138089:128138196:128140956:128141022 | 128138089:128138196 | ENSG00000165055.11 | ENST00000482555.1,ENST00000262432.8,ENST00000480046.1,ENST00000481392.1 |
| exon_skip_470988 | 7 | 128138089:128138196:128140956:128141022:128141815:128141886 | 128140956:128141022 | ENSG00000165055.11 | ENST00000482555.1,ENST00000262432.8,ENST00000480046.1,ENST00000481392.1 |
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 METTL2B |
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 |
| ENST00000262432 | 128117135 | 128117227 | Frame-shift |
| ENST00000262432 | 128128154 | 128128215 | Frame-shift |
| ENST00000262432 | 128133857 | 128133997 | Frame-shift |
| ENST00000262432 | 128138089 | 128138196 | Frame-shift |
| ENST00000262432 | 128140956 | 128141022 | 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 |
| ENST00000262432 | 128117135 | 128117227 | Frame-shift |
| ENST00000262432 | 128128154 | 128128215 | Frame-shift |
| ENST00000262432 | 128133857 | 128133997 | Frame-shift |
| ENST00000262432 | 128138089 | 128138196 | Frame-shift |
| ENST00000262432 | 128140956 | 128141022 | In-frame |
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Infer the effects of exon skipping event on protein functional features for METTL2B |
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 |
| ENST00000262432 | 2199 | 378 | 128140956 | 128141022 | 954 | 1019 | 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 |
| ENST00000262432 | 2199 | 378 | 128140956 | 128141022 | 954 | 1019 | 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 |
| Q6P1Q9 | 305 | 327 | 2 | 378 | Chain | ID=PRO_0000328847;Note=Methyltransferase-like protein 2B |
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 |
| Q6P1Q9 | 305 | 327 | 2 | 378 | Chain | ID=PRO_0000328847;Note=Methyltransferase-like protein 2B |
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SNVs in the skipped exons for METTL2B |
- 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. |
- 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-G3-A3CJ-01 | exon_skip_470978 | 128128155 | 128128215 | 128128185 | 128128185 | Frame_Shift_Del | T | - | p.D148fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_470986 | 128138090 | 128138196 | 128138133 | 128138133 | Frame_Shift_Del | G | - | p.G221fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_470986 | 128138090 | 128138196 | 128138133 | 128138133 | Frame_Shift_Del | G | - | p.G221fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_470986 | 128138090 | 128138196 | 128138133 | 128138133 | Frame_Shift_Del | G | - | p.G221fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_470986 | 128138090 | 128138196 | 128138133 | 128138133 | Frame_Shift_Del | G | - | p.G221fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_470986 | 128138090 | 128138196 | 128138141 | 128138141 | Frame_Shift_Del | G | - | p.M222fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_470986 | 128138090 | 128138196 | 128138190 | 128138190 | Frame_Shift_Del | A | - | p.K240fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_470986 | 128138090 | 128138196 | 128138190 | 128138190 | Frame_Shift_Del | A | - | p.K240fs |
| UCEC | TCGA-D1-A174-01 | exon_skip_470988 | 128140957 | 128141022 | 128140980 | 128140981 | Frame_Shift_Del | TA | - | p.Y314fs |
| LIHC | TCGA-EP-A12J-01 | exon_skip_470988 | 128140957 | 128141022 | 128140982 | 128140983 | Frame_Shift_Del | TG | - | p.314_314del |
| LIHC | TCGA-BC-A112-01 | exon_skip_470986 | 128138090 | 128138196 | 128138186 | 128138187 | Frame_Shift_Ins | - | T | p.*238fs |
| LIHC | TCGA-EP-A12J-01 | exon_skip_470988 | 128140957 | 128141022 | 128140983 | 128140984 | Frame_Shift_Ins | - | T | p.E250fs |
| LIHC | TCGA-EP-A12J-01 | exon_skip_470988 | 128140957 | 128141022 | 128140983 | 128140984 | Frame_Shift_Ins | - | T | p.V315fs |
| HNSC | TCGA-TN-A7HL-01 | exon_skip_470986 | 128138090 | 128138196 | 128138151 | 128138151 | Nonsense_Mutation | C | T | p.R226* |
- 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 |
| SNU626_CENTRAL_NERVOUS_SYSTEM | 128128155 | 128128215 | 128128185 | 128128185 | Frame_Shift_Del | T | - | p.D213fs |
| TOV21G_OVARY | 128138090 | 128138196 | 128138190 | 128138190 | Frame_Shift_Del | A | - | p.K305fs |
| HEC59_ENDOMETRIUM | 128133858 | 128133997 | 128133877 | 128133879 | In_Frame_Del | CTT | - | p.S231del |
| SNGM_ENDOMETRIUM | 128133858 | 128133997 | 128133940 | 128133940 | Missense_Mutation | A | G | p.K251R |
| DOV13_OVARY | 128138090 | 128138196 | 128138143 | 128138143 | Missense_Mutation | T | C | p.V288A |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for METTL2B |
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 |
| exon_skip_470976 | 7 | 128116807:128116929:128117135:128117227:128119211:128119567 | 128117135:128117227 | ENST00000262432.8 | KICH | rs2288557 | chr7:128117227 | G/A | 1.26e-05 |
| exon_skip_470976 | 7 | 128116807:128116929:128117135:128117227:128119211:128119567 | 128117135:128117227 | ENST00000262432.8 | TGCT | rs2288557 | chr7:128117227 | G/A | 9.92e-19 |
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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for METTL2B |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for METTL2B |
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RelatedDrugs for METTL2B |
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 METTL2B |
Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |