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Open reading frame (ORF) annotation in the exon skipping event | |
3'-UTR located exon skipping events lost miRNA binding sites | |
Splicing Quantitative Trait Loci (sQTLs) in the skipped exons | |
Gene summary for AK4 |
Gene summary |
Gene information | Gene symbol | AK4 | Gene ID | 205 |
Gene name | adenylate kinase 4 | |
Synonyms | AK 4|AK3|AK3L1|AK3L2 | |
Cytomap | 1p31.3 | |
Type of gene | protein-coding | |
Description | adenylate kinase 4, mitochondrialATP-AMP transphosphorylaseGTP:AMP phosphotransferase AK4, mitochondrialadenylate kinase 3-like 1adenylate kinase isoenzyme 4, mitochondrialepididymis secretory sperm binding proteinmitochondrial adenylate kinase-3nu | |
Modification date | 20200315 | |
UniProtAcc | ||
Context | - 29908079(Targeted brain proteomics uncover multiple pathways to Alzheimer's dementia) |
Gene ontology of each this gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
Gene | GO ID | GO term | PubMed ID |
AK4 | GO:0006165 | nucleoside diphosphate phosphorylation | 23416111 |
AK4 | GO:0009142 | nucleoside triphosphate biosynthetic process | 23416111 |
AK4 | GO:0046033 | AMP metabolic process | 19766732 |
AK4 | GO:0046034 | ATP metabolic process | 19766732 |
AK4 | GO:0046039 | GTP metabolic process | 19766732 |
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Gene structures and expression levels for AK4 |
Skipped exons in the ROSMAP, MSBB, and Mayo 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. |
Differentially expressed gene analysis across multiple brain tissues between AD and control. |
Tissue type | DEG direction | Base mean exp. | log2FC(AD/control) | P-value | Adj. p-value |
Differentially expressed isoform analysis across multiple brain tissues between AD and control. |
Tissue type | DEG direction | ENST | Transcript info. | Base mean exp. | log2FC(AD/control) | P-value | Adjc. p-value |
STG | UP | ENST00000474968.5 | AK4-204:lncRNA:AK4 | 2.727534e+01 | 1.037609e+00 | 4.448198e-04 | 2.577755e-02 |
PG | UP | ENST00000558823.1 | EIF2AK4-205:protein_coding:EIF2AK4 | 9.427936e+00 | 1.147076e+00 | 7.380386e-04 | 1.168385e-02 |
PG | UP | ENST00000546702.5 | AK4-208:protein_coding:AK4 | 1.098675e+01 | 2.127464e+00 | 5.161544e-03 | 4.667838e-02 |
CB | DOWN | ENST00000558823.1 | EIF2AK4-205:protein_coding:EIF2AK4 | 1.444469e+02 | -8.131470e-01 | 2.675284e-08 | 6.953143e-07 |
CB | DOWN | ENST00000558557.1 | EIF2AK4-202:retained_intron:EIF2AK4 | 1.777970e+02 | -9.389820e-01 | 3.936226e-08 | 9.625543e-07 |
CB | UP | ENST00000470888.6 | AK4-203:lncRNA:AK4 | 7.256637e+00 | 9.368919e-01 | 1.787148e-06 | 2.458254e-05 |
CB | UP | ENST00000474968.5 | AK4-204:lncRNA:AK4 | 3.431104e+00 | 8.468080e-01 | 4.037920e-03 | 1.649354e-02 |
Landscape of isoform expressions across multiple brain tissues between AD and control. |
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Exon skipping events with PSIs in ROSMAP, MSBB, and Mayo for AK4 |
Landscape of individual exon skipping event across AD tissues and controls (PSI heatmap). |
All exon skipping events in AD cohorts. |
Exon skip ID | chr | Exons involved in exon skipping | Skipped exon |
exon_skip_235767 | chr1 | 65218754:65218926:65224752:65224870:65226063:65226092 | 65224752:65224870 |
Differentially expressed PSI values of individual exon skipping events in multiple brain tissues between AD and control. |
Exon skipping information | Tissue type | Avg(PSIs) in AD | Avg(PSIs) in control | Difference (PSI) | Adj. p-value |
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Open reading frame (ORF) annotation in the exon skipping event for AK4 |
Open reading frame (ORF) of individual exon skipping events in ROSMAP based on the Ensembl gene structure combined from isoforms. |
ENST | Start of skipped exon | End of skipped exon | ORF |
ENST00000327299 | 65224752 | 65224870 | Frame-shift |
ENST00000395334 | 65224752 | 65224870 | Frame-shift |
ENST00000545314 | 65224752 | 65224870 | Frame-shift |
Open reading frame (ORF) of individual exon skipping events in MSBB 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 Mayo 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 AK4 |
p-ENSG00000162433_img4.png |
Loci of skipped exons in ROSMAP 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 MSBB 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 Mayo 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 ROSMAP. |
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 MSBB. |
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 Mayo. |
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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3'-UTR located exon skipping events that lost miRNA binding sites in AK4 |
3'-UTR exon skipping evnets lost miRNA binding. |
Tissue type | ENST | Exon skip start | Exon skip end | microRNA | Binding site by TargetScan | Binding type by TargetScan | Bdinding site by miRanda | Score of miRanda | Energy by miRanda |
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SNVs in the skipped exons for AK4 |
- Differential PSIs between mutated versus non-mutated samples. |
- Depth of Coverage in the skipped exon of the mutated samples. |
- Sashimi plot in the skipped exon of the mutated samples. |
- Non-synonymous mutations located in the skipped exons. |
Cancer type | Sample | ESID | Skipped exon start | Skipped exon end | Mutation start | Mutation end | Mutation type | Reference seq | Mutation seq | AAchange |
- 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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AD stage-associated exon skippint events for AK4 |
Associated exon skipping events with Braak staging or Clinical Dementia Rating (CDR). |
AD stage info | Cohort | Tissue | SE id | Coefficient | P-value | Chromosome | Strand | E1 start | E1 end | Skipped start | Skipped end | E2 start | E2 end |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for AK4 |
sQTL information located at the skipped exons. |
Tissue type | Exon skip ID | SNP id | Location | P-value | FDR |
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Correlation with RNA binding proteins (RBPs) for AK4 |
Correlated RBP and related information. |
Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
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RelatedDrugs for AK4 |
Approved drugs targeting this gene. (DrugBank Version 5.1.0 2018-04-02) |
UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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RelatedDiseases for AK4 |
Diseases associated with this gene. (DisGeNet 4.0) |
Gene | Disease ID | Disease name | # pubmeds | Source |