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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 RBMY1A1 |
 Gene summary |
| Gene information | Gene symbol | RBMY1A1 | Gene ID | 5940 |
| Gene name | RNA binding motif protein, Y-linked, family 1, member A1 | |
| Synonyms | RBM|RBM1|RBM2|RBMY|RBMY1C|YRRM1|YRRM2 | |
| Cytomap | Yq11.223 | |
| Type of gene | protein-coding | |
| Description | RNA-binding motif protein, Y chromosome, family 1 member A1RNA-binding motif protein 2RNA-binding motif protein, Y chromosome, family 1 member A1/CY chromosome RNA recognition motif 1Y chromosome RNA recognition motif 2 | |
| Modification date | 20180523 | |
| UniProtAcc | P0DJD3 | |
| Context | PubMed: RBMY1A1 [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 |
| RBMY1A1 | GO:0000381 | regulation of alternative mRNA splicing, via spliceosome | 12165565 |
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Exon skipping events across known transcript of Ensembl for RBMY1A1 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 RBMY1A1 |
| 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 RBMY1A1 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_517904 | Y | 23699360:23699464:23702483:23702661:23704576:23704729 | 23702483:23702661 | ENSG00000234414.3 | ENST00000382707.2,ENST00000303902.5 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for RBMY1A1 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_517904 | Y | 23699360:23699464:23702483:23702661:23704576:23704729 | 23702483:23702661 | ENSG00000234414.3 | ENST00000382707.2,ENST00000303902.5 |
| 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 RBMY1A1 |
| 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 |
| ENST00000382707 | 23702483 | 23702661 | 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 |
| ENST00000382707 | 23702483 | 23702661 | Frame-shift |
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Infer the effects of exon skipping event on protein functional features for RBMY1A1 |
| 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 RBMY1A1 |
| - 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 |
| ESCA | TCGA-S8-A6BW-01 | exon_skip_517904 | 23702484 | 23702661 | 23702662 | 23702662 | Splice_Site | G | A | e3+1 |
| - 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 |
| U698M_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 23702484 | 23702661 | 23702631 | 23702631 | Missense_Mutation | G | A | p.G121R |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for RBMY1A1 |
| 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 RBMY1A1 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for RBMY1A1 |
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RelatedDrugs for RBMY1A1 |
| 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 RBMY1A1 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
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