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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 ANTXR1 |
 Gene summary |
| Gene information | Gene symbol | ANTXR1 | Gene ID | 84168 |
| Gene name | ANTXR cell adhesion molecule 1 | |
| Synonyms | ATR|GAPO|TEM8 | |
| Cytomap | 2p13.3 | |
| Type of gene | protein-coding | |
| Description | anthrax toxin receptor 12310008J16Rik2810405N18Riktumor endothelial marker 8 | |
| Modification date | 20200321 | |
| UniProtAcc | ||
| Context | - 31654319(The Molecular Misreading of APP and UBB Induces a Humoral Immune Response in Alzheimer's Disease Patients with Diagnostic Ability) |
| Gene ontology of each this gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
| Gene | GO ID | GO term | PubMed ID |
| ANTXR1 | GO:0031532 | actin cytoskeleton reorganization | 16762926 |
| ANTXR1 | GO:0034446 | substrate adhesion-dependent cell spreading | 16762926 |
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Gene structures and expression levels for ANTXR1 |
| 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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ENSG00000169604
| 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. |
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| Tissue type | DEG direction | ENST | Transcript info. | Base mean exp. | log2FC(AD/control) | P-value | Adjc. p-value |
| PG | UP | ENST00000303714.8 | ANTXR1-201:protein_coding:ANTXR1 | 7.829997e+02 | 8.381592e-01 | 3.214233e-13 | 7.102544e-10 |
| TC | UP | ENST00000409349.7 | ANTXR1-202:protein_coding:ANTXR1 | 8.834887e+00 | 9.365190e-01 | 1.685723e-05 | 3.926200e-04 |
| TC | UP | ENST00000463335.1 | ANTXR1-204:retained_intron:ANTXR1 | 3.310681e+00 | 9.258234e-01 | 1.398470e-04 | 2.107218e-03 |
| 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 ANTXR1 |
| 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_147308 | chr2 | 69070647:69070728:69071754:69071787:69073022:69073101 | 69071754:69071787 |
| exon_skip_223074 | chr2 | 69071754:69071787:69073022:69073101:69075590:69075658 | 69073022:69073101 |
| exon_skip_45367 | chr2 | 69124565:69124643:69152169:69152264:69170248:69170289 | 69152169:69152264 |
| 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 ANTXR1 |
| 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 |
| ENST00000303714 | 69073022 | 69073101 | 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 |
| ENST00000303714 | 69071754 | 69071787 | Frame-shift |
| ENST00000303714 | 69152169 | 69152264 | In-frame |
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Infer the effects of exon skipping event on protein functional features for ANTXR1 |
p-ENSG00000169604_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 |
| ENST00000303714 | 5876 | 564 | 69152169 | 69152264 | 1275 | 1369 | 317 | 349 |
| 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 |
| Q9H6X2 | 317 | 349 | 298 | 564 | Alternative sequence | ID=VSP_000447;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| Q9H6X2 | 317 | 349 | 315 | 358 | Alternative sequence | ID=VSP_047863;Note=In isoform 6. THCSDGSILAIALLILFLLLALALLWWFWPLCCTVIIKEVPPPP->FHPSPSSPGSTSQQGTSSLPPSSKAFCLEPKVPALGSLRNFRRC;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:22912819;Dbxref=PMID:22912819 |
| Q9H6X2 | 317 | 349 | 319 | 333 | Alternative sequence | ID=VSP_000448;Note=In isoform 4. DGSILAIALLILFLL->LHKIASGPTTAACME;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:14702039,ECO:0000303|PubMed:15489334;Dbxref=PMID:14702039,PMID:15489334 |
| Q9H6X2 | 317 | 349 | 334 | 564 | Alternative sequence | ID=VSP_000449;Note=In isoform 4. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:14702039,ECO:0000303|PubMed:15489334;Dbxref=PMID:14702039,PMID:15489334 |
| Q9H6X2 | 317 | 349 | 33 | 564 | Chain | ID=PRO_0000002692;Note=Anthrax toxin receptor 1 |
| Q9H6X2 | 317 | 349 | 326 | 326 | Natural variant | ID=VAR_063146;Note=In HCI susceptibility%3B expression of FLT1 in hemangioma endothelial cells is markedly reduced compared to controls%3B low FLT1 expression in hemangioma cells is caused by reduced activity of a pathway involving ITGB1%2C ANTXR1%2C KDR |
| Q9H6X2 | 317 | 349 | 33 | 321 | Topological domain | Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q9H6X2 | 317 | 349 | 343 | 564 | Topological domain | Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q9H6X2 | 317 | 349 | 322 | 342 | Transmembrane | Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
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3'-UTR located exon skipping events that lost miRNA binding sites in ANTXR1 |
| 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 ANTXR1 |
| - 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 ANTXR1 |
| 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 ANTXR1 |
| 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 ANTXR1 |
| Correlated RBP and related information. |
| Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
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RelatedDrugs for ANTXR1 |
| 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 ANTXR1 |
| 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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