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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 ALKBH5 |
 Gene summary |
| Gene information | Gene symbol | ALKBH5 | Gene ID | 54890 |
| Gene name | alkB homolog 5, RNA demethylase | |
| Synonyms | ABH5|OFOXD|OFOXD1 | |
| Cytomap | 17p11.2|17p11.2 | |
| Type of gene | protein-coding | |
| Description | RNA demethylase ALKBH5AlkB family member 5, RNA demethylasealkB, alkylation repair homolog 5alkylated DNA repair protein alkB homolog 5alpha-ketoglutarate-dependent dioxygenase alkB homolog 5oxoglutarate and iron-dependent oxygenase domain containing | |
| Modification date | 20180523 | |
| UniProtAcc | Q6P6C2 | |
| Context | PubMed: ALKBH5 [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 |
| ALKBH5 | GO:0001666 | response to hypoxia | 21264265 |
| ALKBH5 | GO:0035553 | oxidative single-stranded RNA demethylation | 23177736 |
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Exon skipping events across known transcript of Ensembl for ALKBH5 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 ALKBH5 |
| 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 ALKBH5 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_149578 | 17 | 18087552:18088327:18098268:18098349:18110128:18110284 | 18098268:18098349 | ENSG00000091542.8 | ENST00000399138.4 |
| exon_skip_149579 | 17 | 18098268:18098349:18110128:18110284:18111532:18112712 | 18110128:18110284 | ENSG00000091542.8 | ENST00000399138.4,ENST00000541285.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for ALKBH5 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_149578 | 17 | 18087552:18088327:18098268:18098349:18110128:18110284 | 18098268:18098349 | ENSG00000091542.8 | ENST00000399138.4 |
| exon_skip_149579 | 17 | 18098268:18098349:18110128:18110284:18111532:18112712 | 18110128:18110284 | ENSG00000091542.8 | ENST00000541285.1,ENST00000399138.4 |
| 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 ALKBH5 |
| 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 |
| 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 |
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Infer the effects of exon skipping event on protein functional features for ALKBH5 |
| 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 ALKBH5 |
| - 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 |
| HNSC | TCGA-CN-A499-01 | exon_skip_149578 | 18098269 | 18098349 | 18098327 | 18098327 | Nonsense_Mutation | C | T | p.R277* |
| - 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 |
| MEWO_SKIN | 18110129 | 18110284 | 18110164 | 18110164 | Missense_Mutation | C | T | p.S296F |
| OVCAR4_OVARY | 18110129 | 18110284 | 18110184 | 18110184 | Missense_Mutation | C | G | p.P303A |
| HEC6_ENDOMETRIUM | 18110129 | 18110284 | 18110205 | 18110205 | Missense_Mutation | C | T | p.R310C |
| AMO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 18110129 | 18110284 | 18110206 | 18110206 | Missense_Mutation | G | A | p.R310H |
| HELA_CERVIX | 18110129 | 18110284 | 18110212 | 18110212 | Missense_Mutation | C | T | p.S312L |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for ALKBH5 |
| 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 ALKBH5 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for ALKBH5 |
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RelatedDrugs for ALKBH5 |
| 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 ALKBH5 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
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