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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 ALKBH6 |
Gene summary |
Gene information | Gene symbol | ALKBH6 | Gene ID | 84964 |
Gene name | alkB homolog 6 | |
Synonyms | ABH6 | |
Cytomap | 19q13.12 | |
Type of gene | protein-coding | |
Description | alpha-ketoglutarate-dependent dioxygenase alkB homolog 6alkB, alkylation repair homolog 6alkylated DNA repair protein alkB homolog 6alkylation repair homolog 6probable alpha-ketoglutarate-dependent dioxygenase ABH6 | |
Modification date | 20200313 | |
UniProtAcc | ||
Context |
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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Gene structures and expression levels for ALKBH6 |
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 |
CB | DOWN | ENST00000485128.5 | ALKBH6-212:protein_coding:ALKBH6 | 7.872580e+00 | -1.334196e+00 | 2.298308e-03 | 1.034221e-02 |
TC | DOWN | ENST00000481257.5 | ALKBH6-211:nonsense_mediated_decay:ALKBH6 | 8.564034e-01 | -1.256765e+00 | 5.207056e-04 | 5.938167e-03 |
TC | DOWN | ENST00000495116.6 | ALKBH6-216:lncRNA:ALKBH6 | 4.428520e+00 | -1.208389e+00 | 1.767377e-03 | 1.526614e-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 ALKBH6 |
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_113764 | chr19 | 36013344:36013422:36013514:36013588:36014175:36014239 | 36013514:36013588 |
exon_skip_128079 | chr19 | 36010567:36010683:36010894:36011045:36011404:36011464 | 36010894:36011045 |
exon_skip_200396 | chr19 | 36010567:36010683:36010894:36011077:36011404:36011464 | 36010894:36011077 |
exon_skip_211114 | chr19 | 36010567:36010683:36010894:36011065:36011404:36011464 | 36010894:36011065 |
exon_skip_266050 | chr19 | 36011404:36011464:36013021:36013089:36013344:36013422 | 36013021:36013089 |
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 ALKBH6 |
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 |
ENST00000252984 | 36013514 | 36013588 | 3UTR-3UTR |
ENST00000252984 | 36010894 | 36011045 | Frame-shift |
ENST00000252984 | 36013021 | 36013089 | In-frame |
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 |
ENST00000252984 | 36013514 | 36013588 | 3UTR-3UTR |
ENST00000252984 | 36010894 | 36011045 | Frame-shift |
ENST00000252984 | 36013021 | 36013089 | In-frame |
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 |
ENST00000252984 | 36013514 | 36013588 | 3UTR-3UTR |
ENST00000252984 | 36010894 | 36011045 | Frame-shift |
ENST00000252984 | 36013021 | 36013089 | In-frame |
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Infer the effects of exon skipping event on protein functional features for ALKBH6 |
p-ENSG00000239382_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 |
ENST00000252984 | 972 | 238 | 36013021 | 36013089 | 208 | 275 | 18 | 40 |
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 |
ENST00000252984 | 972 | 238 | 36013021 | 36013089 | 208 | 275 | 18 | 40 |
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 |
ENST00000252984 | 972 | 238 | 36013021 | 36013089 | 208 | 275 | 18 | 40 |
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 |
Q3KRA9 | 18 | 40 | 1 | 238 | Chain | ID=PRO_0000323716;Note=Alpha-ketoglutarate-dependent dioxygenase alkB homolog 6 |
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 |
Q3KRA9 | 18 | 40 | 1 | 238 | Chain | ID=PRO_0000323716;Note=Alpha-ketoglutarate-dependent dioxygenase alkB homolog 6 |
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 |
Q3KRA9 | 18 | 40 | 1 | 238 | Chain | ID=PRO_0000323716;Note=Alpha-ketoglutarate-dependent dioxygenase alkB homolog 6 |
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3'-UTR located exon skipping events that lost miRNA binding sites in ALKBH6 |
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 |
Mayo | ENST00000252984 | 36013514 | 36013588 | hsa-miR-644a | chr19:36013573-36013580 | 8mer-1a | chr19:36013563-36013580 | 155.00 | -16.44 |
Mayo | ENST00000252984 | 36013514 | 36013588 | hsa-miR-1303 | chr19:36013541-36013548 | 8mer-1a | chr19:36013527-36013548 | 154.00 | -17.91 |
MSBB | ENST00000252984 | 36013514 | 36013588 | hsa-miR-644a | chr19:36013573-36013580 | 8mer-1a | chr19:36013563-36013580 | 155.00 | -16.44 |
MSBB | ENST00000252984 | 36013514 | 36013588 | hsa-miR-1303 | chr19:36013541-36013548 | 8mer-1a | chr19:36013527-36013548 | 154.00 | -17.91 |
ROSMAP | ENST00000252984 | 36013514 | 36013588 | hsa-miR-644a | chr19:36013573-36013580 | 8mer-1a | chr19:36013563-36013580 | 155.00 | -16.44 |
ROSMAP | ENST00000252984 | 36013514 | 36013588 | hsa-miR-1303 | chr19:36013541-36013548 | 8mer-1a | chr19:36013527-36013548 | 154.00 | -17.91 |
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SNVs in the skipped exons for ALKBH6 |
- 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 ALKBH6 |
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 ALKBH6 |
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 ALKBH6 |
Correlated RBP and related information. |
Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
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RelatedDrugs for ALKBH6 |
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 ALKBH6 |
Diseases associated with this gene. (DisGeNet 4.0) |
Gene | Disease ID | Disease name | # pubmeds | Source |