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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 RNF144A |
 Gene summary |
| Gene information | Gene symbol | RNF144A | Gene ID | 9781 |
| Gene name | ring finger protein 144A | |
| Synonyms | RNF144|UBCE7IP4|hUIP4 | |
| Cytomap | 2p25.1 | |
| Type of gene | protein-coding | |
| Description | E3 ubiquitin-protein ligase RNF144AUbcM4-interacting protein 4probable E3 ubiquitin-protein ligase RNF144Aring finger protein 144ubiquitin conjugating enzyme 7 interacting protein 4 | |
| Modification date | 20180523 | |
| UniProtAcc | P50876 | |
| Context | PubMed: RNF144A [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 RNF144A 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 RNF144A |
| 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 RNF144A |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_323253 | 2 | 7081078:7081278:7137046:7137192:7154584:7154614 | 7137046:7137192 | ENSG00000151692.10 | ENST00000320892.6,ENST00000416587.1 |
| exon_skip_323255 | 2 | 7164499:7164647:7170256:7170346:7179759:7179791 | 7170256:7170346 | ENSG00000151692.10 | ENST00000320892.6,ENST00000467276.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for RNF144A |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_323253 | 2 | 7081078:7081278:7137046:7137192:7154584:7154614 | 7137046:7137192 | ENSG00000151692.10 | ENST00000320892.6,ENST00000416587.1 |
| exon_skip_323255 | 2 | 7164499:7164647:7170256:7170346:7179759:7179791 | 7170256:7170346 | ENSG00000151692.10 | ENST00000320892.6,ENST00000467276.1 |
| 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 RNF144A |
| 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 |
| ENST00000320892 | 7137046 | 7137192 | 5CDS-5UTR |
| ENST00000320892 | 7170256 | 7170346 | 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 |
| ENST00000320892 | 7137046 | 7137192 | 5CDS-5UTR |
| ENST00000320892 | 7170256 | 7170346 | In-frame |
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Infer the effects of exon skipping event on protein functional features for RNF144A |
| 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 |
| ENST00000320892 | 5760 | 292 | 7170256 | 7170346 | 1100 | 1189 | 219 | 249 |
| 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 |
| ENST00000320892 | 5760 | 292 | 7170256 | 7170346 | 1100 | 1189 | 219 | 249 |
| 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 |
| P50876 | 219 | 249 | 1 | 292 | Chain | ID=PRO_0000056298;Note=E3 ubiquitin-protein ligase RNF144A |
| 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 |
| P50876 | 219 | 249 | 1 | 292 | Chain | ID=PRO_0000056298;Note=E3 ubiquitin-protein ligase RNF144A |
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SNVs in the skipped exons for RNF144A |
| - 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 |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_323253 | 7137047 | 7137192 | 7137130 | 7137130 | Frame_Shift_Del | G | - | p.G25fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_323253 | 7137047 | 7137192 | 7137130 | 7137130 | Frame_Shift_Del | G | - | p.L24fs |
| SARC | TCGA-X6-A7WB-01 | exon_skip_323253 | 7137047 | 7137192 | 7137145 | 7137145 | Nonsense_Mutation | G | T | p.E30* |
| STAD | TCGA-VQ-A8P2-01 | exon_skip_323253 | 7137047 | 7137192 | 7137148 | 7137148 | Nonsense_Mutation | C | T | p.Q31* |
| STAD | TCGA-VQ-A8P2-01 | exon_skip_323253 | 7137047 | 7137192 | 7137148 | 7137148 | Nonsense_Mutation | C | T | p.Q31X |
| LUAD | TCGA-55-6983-01 | exon_skip_323255 | 7170257 | 7170346 | 7170334 | 7170334 | Nonsense_Mutation | G | A | p.W245* |
| SKCM | TCGA-D9-A6EC-06 | exon_skip_323253 | 7137047 | 7137192 | 7137194 | 7137194 | Splice_Site | T | G | . |
| STAD | TCGA-BR-4256-01 | exon_skip_323255 | 7170257 | 7170346 | 7170255 | 7170255 | Splice_Site | A | G | p.D220_splice |
| - 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 |
| HEC108_ENDOMETRIUM | 7137047 | 7137192 | 7137187 | 7137187 | Missense_Mutation | A | G | p.T44A |
| MN60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 7170257 | 7170346 | 7170297 | 7170297 | Missense_Mutation | G | A | p.R233Q |
| KHYG_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 7170257 | 7170346 | 7170320 | 7170320 | Missense_Mutation | G | A | p.A241T |
| SNU899_UPPER_AERODIGESTIVE_TRACT | 7170257 | 7170346 | 7170320 | 7170320 | Missense_Mutation | G | A | p.A241T |
| AN3CA_ENDOMETRIUM | 7170257 | 7170346 | 7170326 | 7170326 | Missense_Mutation | G | A | p.V243M |
| GP5D_LARGE_INTESTINE | 7170257 | 7170346 | 7170329 | 7170329 | Missense_Mutation | A | G | p.I244V |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for RNF144A |
| 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 RNF144A |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for RNF144A |
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RelatedDrugs for RNF144A |
| 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 RNF144A |
| 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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