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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 AXIN1 |
 Gene summary |
| Gene information | Gene symbol | AXIN1 | Gene ID | 8312 |
| Gene name | axin 1 | |
| Synonyms | AXIN|PPP1R49 | |
| Cytomap | 16p13.3 | |
| Type of gene | protein-coding | |
| Description | axin-1axis inhibition protein 1axis inhibitor 1fused, mouse, homolog ofprotein phosphatase 1, regulatory subunit 49 | |
| Modification date | 20200322 | |
| 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 |
| AXIN1 | GO:0001934 | positive regulation of protein phosphorylation | 9601641 |
| AXIN1 | GO:0032147 | activation of protein kinase activity | 9601641 |
| AXIN1 | GO:0034622 | cellular protein-containing complex assembly | 16601693 |
| AXIN1 | GO:0045732 | positive regulation of protein catabolic process | 9601641 |
| AXIN1 | GO:0090090 | negative regulation of canonical Wnt signaling pathway | 10644691 |
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Gene structures and expression levels for AXIN1 |
| 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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ENSG00000103126
| 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 AXIN1 |
| 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_121671 | chr16 | 314543:314683:346148:347106:352369:352449 | 346148:347106 |
| exon_skip_135211 | chr16 | 309973:310069:314543:314683:346148:346322 | 314543:314683 |
| exon_skip_226059 | chr16 | 289440:289607:291190:291297:293488:293536 | 291190:291297 |
| exon_skip_251339 | chr16 | 314543:314683:346148:347106:352369:352382 | 346148:347106 |
| exon_skip_270773 | chr16 | 297844:298251:304304:304441:309973:310069 | 304304:304441 |
| exon_skip_75099 | chr16 | 304304:304441:309973:310069:314543:314683 | 309973:310069 |
| 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 AXIN1 |
| 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 |
| ENST00000262320 | 346148 | 347106 | 3UTR-3CDS |
| ENST00000262320 | 309973 | 310069 | Frame-shift |
| ENST00000262320 | 291190 | 291297 | In-frame |
| ENST00000262320 | 314543 | 314683 | 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 |
| ENST00000262320 | 346148 | 347106 | 3UTR-3CDS |
| ENST00000262320 | 309973 | 310069 | Frame-shift |
| ENST00000262320 | 291190 | 291297 | 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 |
| ENST00000262320 | 346148 | 347106 | 3UTR-3CDS |
| ENST00000262320 | 309973 | 310069 | Frame-shift |
| ENST00000262320 | 291190 | 291297 | In-frame |
| ENST00000262320 | 304304 | 304441 | In-frame |
| ENST00000262320 | 314543 | 314683 | In-frame |
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Infer the effects of exon skipping event on protein functional features for AXIN1 |
p-ENSG00000103126_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 |
| ENST00000262320 | 3660 | 862 | 314543 | 314683 | 1251 | 1390 | 293 | 339 |
| ENST00000262320 | 3660 | 862 | 291190 | 291297 | 2559 | 2665 | 729 | 764 |
| 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 |
| ENST00000262320 | 3660 | 862 | 291190 | 291297 | 2559 | 2665 | 729 | 764 |
| 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 |
| ENST00000262320 | 3660 | 862 | 314543 | 314683 | 1251 | 1390 | 293 | 339 |
| ENST00000262320 | 3660 | 862 | 304304 | 304441 | 1489 | 1625 | 372 | 417 |
| ENST00000262320 | 3660 | 862 | 291190 | 291297 | 2559 | 2665 | 729 | 764 |
| 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 |
| O15169 | 293 | 339 | 1 | 862 | Chain | ID=PRO_0000220888;Note=Axin-1 |
| O15169 | 293 | 339 | 209 | 338 | Region | Note=Interaction with TP53;Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| O15169 | 729 | 764 | 730 | 765 | Alternative sequence | ID=VSP_019398;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| O15169 | 729 | 764 | 1 | 862 | Chain | ID=PRO_0000220888;Note=Axin-1 |
| O15169 | 729 | 764 | 507 | 757 | Region | Note=Interaction with RNF111;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16601693;Dbxref=PMID:16601693 |
| O15169 | 729 | 764 | 575 | 789 | Region | Note=Interaction with PPP2CA;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:9920888;Dbxref=PMID:9920888 |
| O15169 | 729 | 764 | 677 | 752 | Region | Note=Interaction with HIPK2;Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| 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 |
| O15169 | 729 | 764 | 730 | 765 | Alternative sequence | ID=VSP_019398;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| O15169 | 729 | 764 | 1 | 862 | Chain | ID=PRO_0000220888;Note=Axin-1 |
| O15169 | 729 | 764 | 507 | 757 | Region | Note=Interaction with RNF111;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16601693;Dbxref=PMID:16601693 |
| O15169 | 729 | 764 | 575 | 789 | Region | Note=Interaction with PPP2CA;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:9920888;Dbxref=PMID:9920888 |
| O15169 | 729 | 764 | 677 | 752 | Region | Note=Interaction with HIPK2;Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| 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 |
| O15169 | 293 | 339 | 1 | 862 | Chain | ID=PRO_0000220888;Note=Axin-1 |
| O15169 | 293 | 339 | 209 | 338 | Region | Note=Interaction with TP53;Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| O15169 | 372 | 417 | 379 | 383 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5WZZ |
| O15169 | 372 | 417 | 1 | 862 | Chain | ID=PRO_0000220888;Note=Axin-1 |
| O15169 | 372 | 417 | 385 | 400 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4NM3 |
| O15169 | 372 | 417 | 348 | 433 | Region | Note=Interaction with GSK3B;Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| O15169 | 729 | 764 | 730 | 765 | Alternative sequence | ID=VSP_019398;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| O15169 | 729 | 764 | 1 | 862 | Chain | ID=PRO_0000220888;Note=Axin-1 |
| O15169 | 729 | 764 | 507 | 757 | Region | Note=Interaction with RNF111;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16601693;Dbxref=PMID:16601693 |
| O15169 | 729 | 764 | 575 | 789 | Region | Note=Interaction with PPP2CA;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:9920888;Dbxref=PMID:9920888 |
| O15169 | 729 | 764 | 677 | 752 | Region | Note=Interaction with HIPK2;Ontology_term=ECO:0000250;evidence=ECO:0000250 |
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3'-UTR located exon skipping events that lost miRNA binding sites in AXIN1 |
| 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 AXIN1 |
| - 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 AXIN1 |
| 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 AXIN1 |
| 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 AXIN1 |
| Correlated RBP and related information. |
| Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
| TC | RBM3 | exon_skip_226059 | -4.740320e-01 | 2.426823e-10 |
| TC | ESRP1 | exon_skip_226059 | -4.545741e-01 | 1.558518e-09 |
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RelatedDrugs for AXIN1 |
| 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 AXIN1 |
| 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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