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Open reading frame (ORF) annotation in the exon skipping event | |
Splicing Quantitative Trait Loci (sQTLs) in the skipped exons | |
Splicing Quantitative Trait Methylation (sQTM) in the skipped exon | |
Gene summary for C5orf22 |
Gene summary |
Gene information | Gene symbol | C5orf22 | Gene ID | 55322 |
Gene name | chromosome 5 open reading frame 22 | |
Synonyms | - | |
Cytomap | 5p13.3 | |
Type of gene | protein-coding | |
Description | UPF0489 protein C5orf22 | |
Modification date | 20180519 | |
UniProtAcc | Q49AR2 | |
Context | PubMed: C5orf22 [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 C5orf22 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 C5orf22 |
Expression levels of gene isoforms across TCGA. |
Expression levels of gene isoforms across GTEx. |
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Exon skipping events with PSIs in TCGA for C5orf22 |
Information of exkip skipping event in TCGA. |
Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
exon_skip_434166 | 5 | 31534378:31534524:31535065:31535158:31535850:31536000 | 31535065:31535158 | ENSG00000082213.13 | ENST00000507818.2 |
exon_skip_434169 | 5 | 31538590:31538796:31541055:31541118:31541387:31541509 | 31541055:31541118 | ENSG00000082213.13 | ENST00000510659.1,ENST00000504464.1,ENST00000510530.1,ENST00000325366.9,ENST00000355907.3 |
exon_skip_434171 | 5 | 31541387:31541509:31545752:31545819:31548596:31548794 | 31545752:31545819 | ENSG00000082213.13 | ENST00000355907.3 |
exon_skip_434172 | 5 | 31541387:31541509:31545752:31545819:31551399:31551501 | 31545752:31545819 | ENSG00000082213.13 | ENST00000510659.1,ENST00000513967.1,ENST00000325366.9 |
exon_skip_434174 | 5 | 31545777:31545819:31548596:31548794:31551399:31551501 | 31548596:31548794 | ENSG00000082213.13 | ENST00000504866.1,ENST00000355907.3 |
PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for C5orf22 |
Information of exkip skipping event in GTEx |
Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
exon_skip_434166 | 5 | 31534378:31534524:31535065:31535158:31535850:31536000 | 31535065:31535158 | ENSG00000082213.13 | ENST00000507818.2 |
exon_skip_434169 | 5 | 31538590:31538796:31541055:31541118:31541387:31541509 | 31541055:31541118 | ENSG00000082213.13 | ENST00000325366.9,ENST00000355907.3,ENST00000510659.1,ENST00000504464.1,ENST00000510530.1 |
exon_skip_434171 | 5 | 31541387:31541509:31545752:31545819:31548596:31548794 | 31545752:31545819 | ENSG00000082213.13 | ENST00000355907.3 |
exon_skip_434172 | 5 | 31541387:31541509:31545752:31545819:31551399:31551501 | 31545752:31545819 | ENSG00000082213.13 | ENST00000325366.9,ENST00000510659.1,ENST00000513967.1 |
exon_skip_434174 | 5 | 31545777:31545819:31548596:31548794:31551399:31551501 | 31548596:31548794 | ENSG00000082213.13 | ENST00000355907.3,ENST00000504866.1 |
PSI values of skipped exons in GTEx. |
* Skipped exon sequences. |
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Open reading frame (ORF) annotation in the exon skipping event for C5orf22 |
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 |
ENST00000325366 | 31545752 | 31545819 | Frame-shift |
ENST00000325366 | 31541055 | 31541118 | 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 |
ENST00000325366 | 31545752 | 31545819 | Frame-shift |
ENST00000325366 | 31541055 | 31541118 | In-frame |
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Infer the effects of exon skipping event on protein functional features for C5orf22 |
Exon skipping at the protein sequence level and followed lost functional features. * Click on the image to enlarge it in a new window. |
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 |
ENST00000325366 | 3629 | 442 | 31541055 | 31541118 | 935 | 997 | 269 | 290 |
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 |
ENST00000325366 | 3629 | 442 | 31541055 | 31541118 | 935 | 997 | 269 | 290 |
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 |
Q49AR2 | 269 | 290 | 1 | 279 | Alternative sequence | ID=VSP_028182;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:17974005;Dbxref=PMID:17974005 |
Q49AR2 | 269 | 290 | 280 | 353 | Alternative sequence | ID=VSP_028184;Note=In isoform 3. QFKKPGTNLTEEDLVDIVDTRIHQLEDLEATFADLCDGDDEETVQRWASNPGMESLVPLVQSLKKRMEVPDYEM->MEVPDYEMFPASSSSPSETTSAWISLSMSLSAFWSKPFNKSLGSSKLSNISLPSSEPSKLFQPLPVPKLLPHFQ;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:17974005;Dbxref=P |
Q49AR2 | 269 | 290 | 1 | 442 | Chain | ID=PRO_0000305002;Note=UPF0489 protein C5orf22 |
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 |
Q49AR2 | 269 | 290 | 1 | 279 | Alternative sequence | ID=VSP_028182;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:17974005;Dbxref=PMID:17974005 |
Q49AR2 | 269 | 290 | 280 | 353 | Alternative sequence | ID=VSP_028184;Note=In isoform 3. QFKKPGTNLTEEDLVDIVDTRIHQLEDLEATFADLCDGDDEETVQRWASNPGMESLVPLVQSLKKRMEVPDYEM->MEVPDYEMFPASSSSPSETTSAWISLSMSLSAFWSKPFNKSLGSSKLSNISLPSSEPSKLFQPLPVPKLLPHFQ;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:17974005;Dbxref=P |
Q49AR2 | 269 | 290 | 1 | 442 | Chain | ID=PRO_0000305002;Note=UPF0489 protein C5orf22 |
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SNVs in the skipped exons for C5orf22 |
- Lollipop plot for presenting exon skipping associated SNVs. * Click on the image to enlarge it in a new window. |
- 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 |
BRCA | TCGA-D8-A27L-01 | exon_skip_434171 exon_skip_434172 | 31545753 | 31545819 | 31545752 | 31545752 | Splice_Site | G | A | e7-1 |
- 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 |
DAOY_CENTRAL_NERVOUS_SYSTEM | 31541056 | 31541118 | 31541065 | 31541065 | Missense_Mutation | A | G | p.K273E |
SN12C_KIDNEY | 31541056 | 31541118 | 31541075 | 31541075 | Missense_Mutation | A | T | p.Q276L |
SW1088_CENTRAL_NERVOUS_SYSTEM | 31545753 | 31545819 | 31545755 | 31545755 | Missense_Mutation | T | C | p.M332T |
CMK_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 31545753 | 31545819 | 31545793 | 31545793 | Missense_Mutation | C | T | p.R345W |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for C5orf22 |
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 C5orf22 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for C5orf22 |
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RelatedDrugs for C5orf22 |
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 C5orf22 |
Diseases associated with this gene. (DisGeNet 4.0) |
Gene | Disease ID | Disease name | # pubmeds | Source |