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| Open reading frame (ORF) annotation in the exon skipping event |
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| 3'-UTR located exon skipping events lost miRNA binding sites |
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| Splicing Quantitative Trait Loci (sQTLs) in the skipped exons |
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Gene summary for ANKH |
 Gene summary |
| Gene information | Gene symbol | ANKH | Gene ID | 56172 |
| Gene name | ANKH inorganic pyrophosphate transport regulator | |
| Synonyms | ANK|CCAL2|CMDJ|CPPDD|HANK|MANK|SLC62A1 | |
| Cytomap | 5p15.2 | |
| Type of gene | protein-coding | |
| Description | progressive ankylosis protein homologankylosis, progressive homolog | |
| 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 ANKH |
| 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. |
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ENSG00000154122
| 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 |
| 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 ANKH |
| Landscape of individual exon skipping event across AD tissues and controls (PSI heatmap). |
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| All exon skipping events in AD cohorts. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon |
| exon_skip_142808 | chr5 | 14749172:14749306:14751069:14751239:14755861:14755888 | 14751069:14751239 |
| exon_skip_178943 | chr5 | 14711088:14711310:14712874:14712973:14713544:14713667 | 14712874:14712973 |
| exon_skip_180290 | chr5 | 14745870:14745962:14749172:14749306:14751069:14751239 | 14749172:14749306 |
| exon_skip_88022 | chr5 | 14751069:14751239:14755861:14755944:14758480:14758598 | 14755861:14755944 |
| 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 ANKH |
| 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 |
| ENST00000284268 | 14749172 | 14749306 | In-frame |
| ENST00000284268 | 14755861 | 14755944 | 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 |
| 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 |
| ENST00000284268 | 14712874 | 14712973 | Frame-shift |
| ENST00000284268 | 14749172 | 14749306 | In-frame |
| ENST00000284268 | 14751069 | 14751239 | In-frame |
| ENST00000284268 | 14755861 | 14755944 | In-frame |
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Infer the effects of exon skipping event on protein functional features for ANKH |
p-ENSG00000154122_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 |
| ENST00000284268 | 8231 | 492 | 14755861 | 14755944 | 771 | 853 | 144 | 171 |
| ENST00000284268 | 8231 | 492 | 14749172 | 14749306 | 1026 | 1159 | 229 | 273 |
| 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 |
| ENST00000284268 | 8231 | 492 | 14755861 | 14755944 | 771 | 853 | 144 | 171 |
| ENST00000284268 | 8231 | 492 | 14751069 | 14751239 | 855 | 1024 | 172 | 228 |
| ENST00000284268 | 8231 | 492 | 14749172 | 14749306 | 1026 | 1159 | 229 | 273 |
| 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 |
| Q9HCJ1 | 144 | 171 | 1 | 198 | Alternative sequence | ID=VSP_055824;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| Q9HCJ1 | 144 | 171 | 1 | 492 | Chain | ID=PRO_0000137467;Note=Progressive ankylosis protein homolog |
| Q9HCJ1 | 144 | 171 | 153 | 158 | Topological domain | Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q9HCJ1 | 144 | 171 | 132 | 152 | Transmembrane | Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q9HCJ1 | 144 | 171 | 159 | 179 | Transmembrane | Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q9HCJ1 | 229 | 273 | 1 | 492 | Chain | ID=PRO_0000137467;Note=Progressive ankylosis protein homolog |
| Q9HCJ1 | 229 | 273 | 211 | 326 | Topological domain | Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| 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 |
| Q9HCJ1 | 144 | 171 | 1 | 198 | Alternative sequence | ID=VSP_055824;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| Q9HCJ1 | 144 | 171 | 1 | 492 | Chain | ID=PRO_0000137467;Note=Progressive ankylosis protein homolog |
| Q9HCJ1 | 144 | 171 | 153 | 158 | Topological domain | Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q9HCJ1 | 144 | 171 | 132 | 152 | Transmembrane | Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q9HCJ1 | 144 | 171 | 159 | 179 | Transmembrane | Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q9HCJ1 | 172 | 228 | 1 | 198 | Alternative sequence | ID=VSP_055824;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| Q9HCJ1 | 172 | 228 | 1 | 492 | Chain | ID=PRO_0000137467;Note=Progressive ankylosis protein homolog |
| Q9HCJ1 | 172 | 228 | 180 | 189 | Topological domain | Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q9HCJ1 | 172 | 228 | 211 | 326 | Topological domain | Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q9HCJ1 | 172 | 228 | 159 | 179 | Transmembrane | Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q9HCJ1 | 172 | 228 | 190 | 210 | Transmembrane | Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q9HCJ1 | 229 | 273 | 1 | 492 | Chain | ID=PRO_0000137467;Note=Progressive ankylosis protein homolog |
| Q9HCJ1 | 229 | 273 | 211 | 326 | Topological domain | Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
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3'-UTR located exon skipping events that lost miRNA binding sites in ANKH |
| 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 ANKH |
| - 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 ANKH |
| 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 ANKH |
| 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 ANKH |
| Correlated RBP and related information. |
| Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
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RelatedDrugs for ANKH |
| 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 ANKH |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
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