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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 AXIN2 |
 Gene summary |
| Gene information | Gene symbol | AXIN2 | Gene ID | 8313 |
| Gene name | axin 2 | |
| Synonyms | AXIL|ODCRCS | |
| Cytomap | 17q24.1 | |
| Type of gene | protein-coding | |
| Description | axin-2axin-like proteinaxis inhibition protein 2conductin | |
| 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 |
| AXIN2 | GO:0034613 | cellular protein localization | 17072303 |
| AXIN2 | GO:0090090 | negative regulation of canonical Wnt signaling pathway | 11940574 |
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Gene structures and expression levels for AXIN2 |
| 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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ENSG00000168646
| 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 AXIN2 |
| 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_172322 | chr17 | 65536320:65536553:65536869:65537063:65537324:65537835 | 65536869:65537063 |
| exon_skip_249948 | chr17 | 65533951:65534079:65535626:65535721:65536320:65536553 | 65535626:65535721 |
| exon_skip_25645 | chr17 | 65536440:65536553:65536869:65537063:65537324:65537835 | 65536869:65537063 |
| 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 AXIN2 |
| 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 |
| ENST00000307078 | 65535626 | 65535721 | In-frame |
| ENST00000307078 | 65536869 | 65537063 | 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 |
| ENST00000307078 | 65536869 | 65537063 | 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 |
| ENST00000307078 | 65535626 | 65535721 | In-frame |
| ENST00000307078 | 65536869 | 65537063 | In-frame |
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Infer the effects of exon skipping event on protein functional features for AXIN2 |
p-ENSG00000168646_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 |
| ENST00000307078 | 4276 | 843 | 65536869 | 65537063 | 2027 | 2220 | 571 | 635 |
| ENST00000307078 | 4276 | 843 | 65535626 | 65535721 | 2456 | 2550 | 714 | 745 |
| 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 |
| ENST00000307078 | 4276 | 843 | 65536869 | 65537063 | 2027 | 2220 | 571 | 635 |
| 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 |
| ENST00000307078 | 4276 | 843 | 65536869 | 65537063 | 2027 | 2220 | 571 | 635 |
| ENST00000307078 | 4276 | 843 | 65535626 | 65535721 | 2456 | 2550 | 714 | 745 |
| 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 |
| Q9Y2T1 | 571 | 635 | 1 | 843 | Chain | ID=PRO_0000220895;Note=Axin-2 |
| Q9Y2T1 | 571 | 635 | 572 | 636 | Sequence conflict | Note=Missing;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q9Y2T1 | 714 | 745 | 1 | 843 | Chain | ID=PRO_0000220895;Note=Axin-2 |
| 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 |
| Q9Y2T1 | 571 | 635 | 1 | 843 | Chain | ID=PRO_0000220895;Note=Axin-2 |
| Q9Y2T1 | 571 | 635 | 572 | 636 | Sequence conflict | Note=Missing;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| 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 |
| Q9Y2T1 | 571 | 635 | 1 | 843 | Chain | ID=PRO_0000220895;Note=Axin-2 |
| Q9Y2T1 | 571 | 635 | 572 | 636 | Sequence conflict | Note=Missing;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q9Y2T1 | 714 | 745 | 1 | 843 | Chain | ID=PRO_0000220895;Note=Axin-2 |
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3'-UTR located exon skipping events that lost miRNA binding sites in AXIN2 |
| 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 AXIN2 |
| - 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 AXIN2 |
| 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 AXIN2 |
| sQTL information located at the skipped exons. |
| Tissue type | Exon skip ID | SNP id | Location | P-value | FDR |
| TC | exon_skip_172322 | rs4791171 | chr17:65545379 | 1.345489e-04 | 2.074319e-02 |
| HCC | exon_skip_172322 | rs4791171 | chr17:65545379 | 6.197815e-04 | 4.014265e-02 |
| PCC | exon_skip_172322 | rs11867417 | chr17:65541780 | 1.929343e-04 | 2.891812e-02 |
| PCC | exon_skip_172322 | rs4791171 | chr17:65545379 | 1.929343e-04 | 2.891812e-02 |
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Correlation with RNA binding proteins (RBPs) for AXIN2 |
| Correlated RBP and related information. |
| Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
| CB | TARDBP | exon_skip_249948 | -4.066411e-01 | 1.830267e-07 |
| CB | PCBP1 | exon_skip_249948 | -4.458601e-01 | 7.665797e-09 |
| CB | PCBP4 | exon_skip_249948 | 4.638829e-01 | 1.550069e-09 |
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RelatedDrugs for AXIN2 |
| 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 AXIN2 |
| 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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