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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 RBM48 |
 Gene summary |
| Gene information | Gene symbol | RBM48 | Gene ID | 84060 |
| Gene name | RNA binding motif protein 48 | |
| Synonyms | C7orf64|HSPC304 | |
| Cytomap | 7q21.2 | |
| Type of gene | protein-coding | |
| Description | RNA-binding protein 48UPF0712 protein C7orf64 | |
| Modification date | 20180523 | |
| UniProtAcc | Q5RL73 | |
| Context | PubMed: RBM48 [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 RBM48 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 RBM48 |
| 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 RBM48 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_468206 | 7 | 92158086:92158238:92158789:92158980:92161717:92161863 | 92158789:92158980 | ENSG00000127993.10 | ENST00000481551.1 |
| exon_skip_468211 | 7 | 92161717:92161863:92163715:92164284:92166164:92166848 | 92163715:92164284 | ENSG00000127993.10 | ENST00000265732.5 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for RBM48 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_468206 | 7 | 92158086:92158238:92158789:92158980:92161717:92161863 | 92158789:92158980 | ENSG00000127993.10 | ENST00000481551.1 |
| exon_skip_468211 | 7 | 92161717:92161863:92163715:92164284:92166164:92166848 | 92163715:92164284 | ENSG00000127993.10 | ENST00000265732.5 |
| 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 RBM48 |
| 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 |
| ENST00000265732 | 92163715 | 92164284 | 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 |
| ENST00000265732 | 92163715 | 92164284 | Frame-shift |
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Infer the effects of exon skipping event on protein functional features for RBM48 |
| 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 RBM48 |
| - 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 |
| GBM | TCGA-19-2631-01 | exon_skip_468211 | 92163716 | 92164284 | 92163996 | 92163997 | Frame_Shift_Del | TT | - | p.S243fs |
| TGCT | TCGA-SB-A6J6-01 | exon_skip_468211 | 92163716 | 92164284 | 92164020 | 92164021 | Frame_Shift_Del | TT | - | p.SL251fs |
| UCEC | TCGA-BG-A0MQ-01 | exon_skip_468211 | 92163716 | 92164284 | 92164020 | 92164021 | Frame_Shift_Del | TT | - | p.L252fs |
| UCEC | TCGA-BG-A0MQ-01 | exon_skip_468211 | 92163716 | 92164284 | 92164020 | 92164021 | Frame_Shift_Del | TT | - | p.S251fs |
| PAAD | TCGA-IB-7651-01 | exon_skip_468211 | 92163716 | 92164284 | 92164195 | 92164195 | Nonsense_Mutation | G | T | p.G310* |
| PAAD | TCGA-IB-7651-01 | exon_skip_468211 | 92163716 | 92164284 | 92164195 | 92164195 | Nonsense_Mutation | G | T | p.G310X |
| ACC | TCGA-OR-A5LK-01 | exon_skip_468211 | 92163716 | 92164284 | 92164285 | 92164285 | Splice_Site | G | T | . |
| - 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 |
| GP2D_LARGE_INTESTINE | 92163716 | 92164284 | 92164020 | 92164021 | Frame_Shift_Del | TT | - | p.L252fs |
| SNU119_OVARY | 92158790 | 92158980 | 92158850 | 92158850 | Missense_Mutation | G | C | p.V58L |
| HEC251_ENDOMETRIUM | 92158790 | 92158980 | 92158859 | 92158859 | Missense_Mutation | G | A | p.E61K |
| HEC59_ENDOMETRIUM | 92158790 | 92158980 | 92158925 | 92158925 | Missense_Mutation | G | A | p.A83T |
| SNU175_LARGE_INTESTINE | 92163716 | 92164284 | 92163724 | 92163724 | Missense_Mutation | G | A | p.V153M |
| HUO9_BONE | 92163716 | 92164284 | 92163724 | 92163724 | Missense_Mutation | G | A | p.V153M |
| IM95_STOMACH | 92163716 | 92164284 | 92163841 | 92163841 | Missense_Mutation | A | T | p.N192Y |
| KINGS1_CENTRAL_NERVOUS_SYSTEM | 92163716 | 92164284 | 92163876 | 92163876 | Missense_Mutation | A | T | p.L203F |
| SNUC5_LARGE_INTESTINE | 92163716 | 92164284 | 92164063 | 92164063 | Missense_Mutation | A | G | p.T266A |
| NCIH508_LARGE_INTESTINE | 92163716 | 92164284 | 92164099 | 92164099 | Missense_Mutation | A | T | p.T278S |
| SW872_SOFT_TISSUE | 92163716 | 92164284 | 92164102 | 92164102 | Missense_Mutation | A | G | p.T279A |
| CMK_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 92163716 | 92164284 | 92164187 | 92164187 | Missense_Mutation | T | A | p.I307N |
| KARPAS45_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 92163716 | 92164284 | 92164253 | 92164253 | Missense_Mutation | C | T | p.T329M |
| HEC251_ENDOMETRIUM | 92163716 | 92164284 | 92164267 | 92164267 | Missense_Mutation | C | T | p.R334W |
| DU145_PROSTATE | 92158790 | 92158980 | 92158871 | 92158871 | Nonsense_Mutation | C | T | p.R65* |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for RBM48 |
| 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 RBM48 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for RBM48 |
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RelatedDrugs for RBM48 |
| 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 RBM48 |
| 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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