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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 MRPL22 |
 Gene summary |
| Gene information | Gene symbol | MRPL22 | Gene ID | 29093 |
| Gene name | mitochondrial ribosomal protein L22 | |
| Synonyms | HSPC158|L22mt|MRP-L22|MRP-L25|RPML25 | |
| Cytomap | 5q33.2 | |
| Type of gene | protein-coding | |
| Description | 39S ribosomal protein L22, mitochondrial39S ribosomal protein L25, mitochondrialL25mtmitochondrial large ribosomal subunit protein uL22m | |
| Modification date | 20180523 | |
| UniProtAcc | Q9NWU5 | |
| Context | PubMed: MRPL22 [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 MRPL22 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 MRPL22 |
| 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 MRPL22 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_439144 | 5 | 154320776:154320825:154330362:154330498:154335930:154335996 | 154330362:154330498 | ENSG00000082515.12 | ENST00000522038.1 |
| exon_skip_439146 | 5 | 154320776:154320825:154330380:154330498:154335930:154335996 | 154330380:154330498 | ENSG00000082515.12 | ENST00000439747.3,ENST00000523037.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for MRPL22 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_439144 | 5 | 154320776:154320825:154330362:154330498:154335930:154335996 | 154330362:154330498 | ENSG00000082515.12 | ENST00000522038.1 |
| exon_skip_439146 | 5 | 154320776:154320825:154330380:154330498:154335930:154335996 | 154330380:154330498 | ENSG00000082515.12 | ENST00000523037.1,ENST00000439747.3 |
| 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 MRPL22 |
| 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 |
| ENST00000523037 | 154330380 | 154330498 | 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 |
| ENST00000523037 | 154330380 | 154330498 | Frame-shift |
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Infer the effects of exon skipping event on protein functional features for MRPL22 |
| 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 MRPL22 |
| - 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. |
MRPL22_CESC_exon_skip_439146_psi_boxplot.png |
MRPL22_HNSC_exon_skip_439144_psi_boxplot.png |
MRPL22_HNSC_exon_skip_439146_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 |
| KIRP | TCGA-EV-5902-01 | exon_skip_439144 exon_skip_439146 | 154330363 | 154330498 | 154330411 | 154330411 | Frame_Shift_Del | T | - | p.S36fs |
| KIRP | TCGA-EV-5902-01 | exon_skip_439144 exon_skip_439146 | 154330381 | 154330498 | 154330411 | 154330411 | Frame_Shift_Del | T | - | p.S36fs |
| CESC | TCGA-HM-A3JK-01 | exon_skip_439144 exon_skip_439146 | 154330363 | 154330498 | 154330430 | 154330430 | Nonsense_Mutation | C | T | p.R43* |
| CESC | TCGA-HM-A3JK-01 | exon_skip_439144 exon_skip_439146 | 154330381 | 154330498 | 154330430 | 154330430 | Nonsense_Mutation | C | T | p.R43* |
| HNSC | TCGA-HD-A633-01 | exon_skip_439144 exon_skip_439146 | 154330363 | 154330498 | 154330430 | 154330430 | Nonsense_Mutation | C | T | p.R43* |
| HNSC | TCGA-HD-A633-01 | exon_skip_439144 exon_skip_439146 | 154330381 | 154330498 | 154330430 | 154330430 | Nonsense_Mutation | C | T | p.R43* |
| - Depth of coverage in the three exons composing exon skipping event |
| Depth of coverage in three exons | Mutation description |
 | Sample: TCGA-HM-A3JK-01 |
| Cancer type: CESC | |
| ESID: exon_skip_439146 | |
| Skipped exon start: 154330363 | |
| Skipped exon end: 154330498 | |
| Mutation start: 154330430 | |
| Mutation end: 154330430 | |
| Mutation type: Nonsense_Mutation | |
| Reference seq: C | |
| Mutation seq: T | |
| AAchange: p.R43* | |
| Sample: TCGA-HM-A3JK-01 |
| Cancer type: CESC | |
| ESID: exon_skip_439146 | |
| Skipped exon start: 154330381 | |
| Skipped exon end: 154330498 | |
| Mutation start: 154330430 | |
| Mutation end: 154330430 | |
| Mutation type: Nonsense_Mutation | |
| Reference seq: C | |
| Mutation seq: T | |
| AAchange: p.R43* | |
exon_skip_439144_CESC_TCGA-HM-A3JK-01.png | |
 | Sample: TCGA-HD-A633-01 |
| Cancer type: HNSC | |
| ESID: exon_skip_439146 | |
| Skipped exon start: 154330363 | |
| Skipped exon end: 154330498 | |
| Mutation start: 154330430 | |
| Mutation end: 154330430 | |
| Mutation type: Nonsense_Mutation | |
| Reference seq: C | |
| Mutation seq: T | |
| AAchange: p.R43* | |
| Sample: TCGA-HD-A633-01 |
| Cancer type: HNSC | |
| ESID: exon_skip_439146 | |
| Skipped exon start: 154330381 | |
| Skipped exon end: 154330498 | |
| Mutation start: 154330430 | |
| Mutation end: 154330430 | |
| Mutation type: Nonsense_Mutation | |
| Reference seq: C | |
| Mutation seq: T | |
| AAchange: p.R43* | |
exon_skip_439144_HNSC_TCGA-HD-A633-01.png | |
exon_skip_439146_HNSC_TCGA-HD-A633-01.png | |
 | Sample: TCGA-HM-A3JK-01 |
| Cancer type: CESC | |
| ESID: exon_skip_439146 | |
| Skipped exon start: 154330363 | |
| Skipped exon end: 154330498 | |
| Mutation start: 154330430 | |
| Mutation end: 154330430 | |
| Mutation type: Nonsense_Mutation | |
| Reference seq: C | |
| Mutation seq: T | |
| AAchange: p.R43* | |
| Sample: TCGA-HM-A3JK-01 |
| Cancer type: CESC | |
| ESID: exon_skip_439146 | |
| Skipped exon start: 154330381 | |
| Skipped exon end: 154330498 | |
| Mutation start: 154330430 | |
| Mutation end: 154330430 | |
| Mutation type: Nonsense_Mutation | |
| Reference seq: C | |
| Mutation seq: T | |
| AAchange: p.R43* | |
| exon_skip_439144_CESC_TCGA-HM-A3JK-01.png | |
 | Sample: TCGA-HD-A633-01 |
| Cancer type: HNSC | |
| ESID: exon_skip_439146 | |
| Skipped exon start: 154330363 | |
| Skipped exon end: 154330498 | |
| Mutation start: 154330430 | |
| Mutation end: 154330430 | |
| Mutation type: Nonsense_Mutation | |
| Reference seq: C | |
| Mutation seq: T | |
| AAchange: p.R43* | |
| Sample: TCGA-HD-A633-01 |
| Cancer type: HNSC | |
| ESID: exon_skip_439146 | |
| Skipped exon start: 154330381 | |
| Skipped exon end: 154330498 | |
| Mutation start: 154330430 | |
| Mutation end: 154330430 | |
| Mutation type: Nonsense_Mutation | |
| Reference seq: C | |
| Mutation seq: T | |
| AAchange: p.R43* | |
| exon_skip_439144_HNSC_TCGA-HD-A633-01.png | |
| exon_skip_439146_HNSC_TCGA-HD-A633-01.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 |
| GP2D_LARGE_INTESTINE | 154330363 | 154330498 | 154330383 | 154330383 | Frame_Shift_Del | T | - | p.V27fs |
| GP2D_LARGE_INTESTINE | 154330381 | 154330498 | 154330383 | 154330383 | Frame_Shift_Del | T | - | p.V27fs |
| GP5D_LARGE_INTESTINE | 154330363 | 154330498 | 154330383 | 154330383 | Frame_Shift_Del | T | - | p.V27fs |
| GP5D_LARGE_INTESTINE | 154330381 | 154330498 | 154330383 | 154330383 | Frame_Shift_Del | T | - | p.V27fs |
| LOVO_LARGE_INTESTINE | 154330363 | 154330498 | 154330440 | 154330442 | In_Frame_Del | AGA | - | p.K48del |
| LOVO_LARGE_INTESTINE | 154330381 | 154330498 | 154330440 | 154330442 | In_Frame_Del | AGA | - | p.K48del |
| SISO_CERVIX | 154330363 | 154330498 | 154330413 | 154330413 | Missense_Mutation | C | T | p.A37V |
| SISO_CERVIX | 154330381 | 154330498 | 154330413 | 154330413 | Missense_Mutation | C | T | p.A37V |
| GRST_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 154330363 | 154330498 | 154330413 | 154330413 | Missense_Mutation | C | T | p.A37V |
| GRST_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 154330381 | 154330498 | 154330413 | 154330413 | Missense_Mutation | C | T | p.A37V |
| JHUEM7_ENDOMETRIUM | 154330363 | 154330498 | 154330452 | 154330452 | Missense_Mutation | A | C | p.K50T |
| JHUEM7_ENDOMETRIUM | 154330381 | 154330498 | 154330452 | 154330452 | Missense_Mutation | A | C | p.K50T |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for MRPL22 |
| 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 MRPL22 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for MRPL22 |
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RelatedDrugs for MRPL22 |
| 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 MRPL22 |
| 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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