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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 AHNAK |
Gene summary |
Gene information | Gene symbol | AHNAK | Gene ID | 79026 |
Gene name | AHNAK nucleoprotein | |
Synonyms | AHNAKRS|PM227 | |
Cytomap | 11q12.3 | |
Type of gene | protein-coding | |
Description | neuroblast differentiation-associated protein AHNAKAHNAK-relateddesmoyokin | |
Modification date | 20180523 | |
UniProtAcc | Q09666 | |
Context | PubMed: AHNAK [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 AHNAK 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 AHNAK |
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 AHNAK |
Information of exkip skipping event in TCGA. |
Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
exon_skip_71800 | 11 | 62201018:62201363:62259203:62259303:62284481:62284829 | 62259203:62259303 | ENSG00000124942.9 | ENST00000525875.1 |
exon_skip_71802 | 11 | 62201018:62201363:62259203:62259303:62302474:62302662 | 62259203:62259303 | ENSG00000124942.9 | ENST00000257247.7 |
exon_skip_73397 | 11 | 62303416:62303570:62303710:62303759:62303940:62304039 | 62303710:62303759 | ENSG00000124942.9 | ENST00000531324.1 |
exon_skip_73398 | 11 | 62303416:62303570:62303940:62304039:62314131:62314268 | 62303940:62304039 | ENSG00000124942.9 | ENST00000257247.7,ENST00000378024.4 |
PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for AHNAK |
Information of exkip skipping event in GTEx |
Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
exon_skip_71800 | 11 | 62201018:62201363:62259203:62259303:62284481:62284829 | 62259203:62259303 | ENSG00000124942.9 | ENST00000525875.1 |
exon_skip_71802 | 11 | 62201018:62201363:62259203:62259303:62302474:62302662 | 62259203:62259303 | ENSG00000124942.9 | ENST00000257247.7 |
exon_skip_73397 | 11 | 62303416:62303570:62303710:62303759:62303940:62304039 | 62303710:62303759 | ENSG00000124942.9 | ENST00000531324.1 |
exon_skip_73398 | 11 | 62303416:62303570:62303940:62304039:62314131:62314268 | 62303940:62304039 | ENSG00000124942.9 | ENST00000257247.7,ENST00000378024.4 |
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 AHNAK |
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 |
ENST00000378024 | 62303940 | 62304039 | 3UTR-3UTR |
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 |
ENST00000378024 | 62303940 | 62304039 | 3UTR-3UTR |
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Infer the effects of exon skipping event on protein functional features for AHNAK |
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 |
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 AHNAK |
- 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 |
- 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 |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for AHNAK |
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 AHNAK |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for AHNAK |
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RelatedDrugs for AHNAK |
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 AHNAK |
Diseases associated with this gene. (DisGeNet 4.0) |
Gene | Disease ID | Disease name | # pubmeds | Source |
AHNAK | C0007134 | Renal Cell Carcinoma | 1 | CTD_human |
AHNAK | C0023893 | Liver Cirrhosis, Experimental | 1 | CTD_human |
AHNAK | C0263454 | Chloracne | 1 | CTD_human |