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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 RWDD2B |
 Gene summary |
| Gene information | Gene symbol | RWDD2B | Gene ID | 10069 |
| Gene name | RWD domain containing 2B | |
| Synonyms | C21orf6|GL011 | |
| Cytomap | 21q21.3 | |
| Type of gene | protein-coding | |
| Description | RWD domain-containing protein 2B | |
| Modification date | 20180519 | |
| UniProtAcc | P57060 | |
| Context | PubMed: RWDD2B [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 RWDD2B 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 RWDD2B |
| 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 RWDD2B |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_361480 | 21 | 30378719:30378972:30380081:30380444:30380715:30380942 | 30380081:30380444 | ENSG00000156253.2 | ENST00000286777.2 |
| exon_skip_361485 | 21 | 30380384:30380444:30380560:30380628:30380715:30380942 | 30380560:30380628 | ENSG00000156253.2 | ENST00000493196.1,ENST00000471269.1,ENST00000486719.1 |
| exon_skip_361488 | 21 | 30380715:30380942:30381915:30382013:30391531:30391627 | 30381915:30382013 | ENSG00000156253.2 | ENST00000481411.1,ENST00000486719.1 |
| exon_skip_361490 | 21 | 30380715:30380942:30381947:30382013:30391531:30391627 | 30381947:30382013 | ENSG00000156253.2 | ENST00000471269.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for RWDD2B |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_361480 | 21 | 30378719:30378972:30380081:30380444:30380715:30380942 | 30380081:30380444 | ENSG00000156253.2 | ENST00000286777.2 |
| exon_skip_361485 | 21 | 30380384:30380444:30380560:30380628:30380715:30380942 | 30380560:30380628 | ENSG00000156253.2 | ENST00000493196.1,ENST00000486719.1,ENST00000471269.1 |
| exon_skip_361488 | 21 | 30380715:30380942:30381915:30382013:30391531:30391627 | 30381915:30382013 | ENSG00000156253.2 | ENST00000486719.1,ENST00000481411.1 |
| exon_skip_361490 | 21 | 30380715:30380942:30381947:30382013:30391531:30391627 | 30381947:30382013 | ENSG00000156253.2 | ENST00000471269.1 |
| 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 RWDD2B |
| 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 |
| ENST00000493196 | 30380560 | 30380628 | Frame-shift |
| 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 |
| ENST00000493196 | 30380560 | 30380628 | Frame-shift |
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Infer the effects of exon skipping event on protein functional features for RWDD2B |
| 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 |
| 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 |
| 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 |
| 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 |
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SNVs in the skipped exons for RWDD2B |
| - 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. |
RWDD2B_LUAD_exon_skip_361480_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 |
| LUAD | TCGA-55-8092-01 | exon_skip_361480 | 30380082 | 30380444 | 30380095 | 30380095 | Nonsense_Mutation | C | A | p.E238* |
| - Depth of coverage in the three exons composing exon skipping event |
| Depth of coverage in three exons | Mutation description |
 | Sample: TCGA-55-8092-01 |
| Cancer type: LUAD | |
| ESID: exon_skip_361480 | |
| Skipped exon start: 30380082 | |
| Skipped exon end: 30380444 | |
| Mutation start: 30380095 | |
| Mutation end: 30380095 | |
| Mutation type: Nonsense_Mutation | |
| Reference seq: C | |
| Mutation seq: A | |
| AAchange: p.E238* | |
exon_skip_361480_LUAD_TCGA-55-8092-01.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 |
| NCIH1770_LUNG | 30380082 | 30380444 | 30380185 | 30380185 | Missense_Mutation | C | T | p.E208K |
| NCIH2106_LUNG | 30380082 | 30380444 | 30380185 | 30380185 | Missense_Mutation | C | T | p.E208K |
| C33A_CERVIX | 30380082 | 30380444 | 30380353 | 30380353 | Missense_Mutation | G | C | p.L152V |
| TALL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 30380082 | 30380444 | 30380444 | 30380444 | Splice_Site | T | C | p.R121R |
| SKUT1_SOFT_TISSUE | 30380561 | 30380628 | 30380627 | 30380627 | Splice_Site | G | A | p.A99V |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for RWDD2B |
| 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 RWDD2B |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for RWDD2B |
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RelatedDrugs for RWDD2B |
| 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 RWDD2B |
| 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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