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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 CANT1 |
 Gene summary |
| Gene information | Gene symbol | CANT1 | Gene ID | 124583 |
| Gene name | calcium activated nucleotidase 1 | |
| Synonyms | DBQD|DBQD1|EDM7|SCAN-1|SCAN1|SHAPY | |
| Cytomap | 17q25.3 | |
| Type of gene | protein-coding | |
| Description | soluble calcium-activated nucleotidase 1Ca2+-dependent endoplasmic reticulum nucleoside diphosphataseapyrase homologmicromelic dwarfism with vertebral and metaphyseal abnormalities and advanced carpotarsal ossificationputative MAPK-activating protein | |
| Modification date | 20200313 | |
| UniProtAcc | A0A024R8U8, | |
| 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 CANT1 |
| 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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ENSG00000171302
| 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 |
| CB | DOWN | ENST00000592228.1 | CANT1-214:nonsense_mediated_decay:CANT1 | 3.536215e+01 | -1.121238e+00 | 2.972067e-08 | 7.604348e-07 |
| CB | UP | ENST00000588611.5 | CANT1-207:protein_coding:CANT1 | 2.359986e+00 | 8.837404e-01 | 2.626969e-04 | 1.677350e-03 |
| TC | DOWN | ENST00000592228.1 | CANT1-214:nonsense_mediated_decay:CANT1 | 4.382202e+01 | -1.101178e+00 | 1.912987e-11 | 4.758460e-09 |
| 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 CANT1 |
| 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_108804 | chr17 | 78996976:78997644:78997840:78997963:79009664:79009767 | 78997840:78997963 |
| exon_skip_139036 | chr17 | 79005372:79005481:79008063:79008171:79009664:79009764 | 79008063:79008171 |
| exon_skip_174549 | chr17 | 78997507:78997644:78997840:78997963:79009664:79009764 | 78997840:78997963 |
| exon_skip_175006 | chr17 | 78997840:78997963:78998148:78998286:79009664:79009778 | 78998148:78998286 |
| exon_skip_226149 | chr17 | 78997840:78997963:79005372:79005481:79009664:79009764 | 79005372:79005481 |
| exon_skip_234165 | chr17 | 78997510:78997644:78997840:78997963:79009664:79009764 | 78997840:78997963 |
| exon_skip_241087 | chr17 | 78997840:78997963:78998148:78998286:79000100:79000270 | 78998148:78998286 |
| exon_skip_257103 | chr17 | 79000100:79000270:79005372:79005481:79009664:79009764 | 79005372:79005481 |
| exon_skip_33263 | chr17 | 78997840:78997963:78998148:78998286:79009664:79009764 | 78998148:78998286 |
| exon_skip_34383 | chr17 | 78998229:78998286:79000100:79000270:79009664:79009764 | 79000100:79000270 |
| exon_skip_52586 | chr17 | 78997840:78997963:78998148:78998286:79000100:79000253 | 78998148:78998286 |
| exon_skip_53622 | chr17 | 78997840:78997963:79000100:79000270:79005372:79005481 | 79000100:79000270 |
| exon_skip_63937 | chr17 | 78997106:78997329:78997491:78997644:78997840:78997963 | 78997491:78997644 |
| exon_skip_67926 | chr17 | 78997840:78997963:79000100:79000270:79009664:79009764 | 79000100:79000270 |
| exon_skip_70274 | chr17 | 78998148:78998286:79000100:79000270:79009664:79009778 | 79000100:79000270 |
| 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 CANT1 |
| 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 |
| ENST00000591773 | 78998148 | 78998286 | 3UTR-3UTR |
| 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 |
| ENST00000591773 | 78998148 | 78998286 | 3UTR-3UTR |
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Infer the effects of exon skipping event on protein functional features for CANT1 |
p-ENSG00000171302_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 |
| 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 |
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3'-UTR located exon skipping events that lost miRNA binding sites in CANT1 |
| 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 | ENST00000591773 | 78998148 | 78998286 | hsa-miR-3120-5p | chr17:78998239-78998246 | 8mer-1a | chr17:78998233-78998255 | 145.00 | -22.79 |
| ROSMAP | ENST00000591773 | 78998148 | 78998286 | hsa-miR-3120-5p | chr17:78998239-78998246 | 8mer-1a | chr17:78998233-78998255 | 145.00 | -22.79 |
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SNVs in the skipped exons for CANT1 |
| - 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 CANT1 |
| 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 CANT1 |
| sQTL information located at the skipped exons. |
| Tissue type | Exon skip ID | SNP id | Location | P-value | FDR |
| TC | exon_skip_174549 | rs11891 | chr17:78992703 | 2.895667e-04 | 3.798574e-02 |
| TC | exon_skip_174549 | rs3744171 | chr17:78997815 | 2.895667e-04 | 3.798574e-02 |
| HCC | exon_skip_234165 | rs11891 | chr17:78992703 | 1.057999e-06 | 1.714184e-04 |
| HCC | exon_skip_234165 | rs3744171 | chr17:78997815 | 1.057999e-06 | 1.714184e-04 |
| PCC | exon_skip_174549 | rs11891 | chr17:78992703 | 2.159528e-05 | 4.942019e-03 |
| PCC | exon_skip_174549 | rs3744171 | chr17:78997815 | 2.159528e-05 | 4.942019e-03 |
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Correlation with RNA binding proteins (RBPs) for CANT1 |
| Correlated RBP and related information. |
| Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
| CB | ZNF326 | exon_skip_67926 | 4.796228e-01 | 1.772559e-09 |
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RelatedDrugs for CANT1 |
| Approved drugs targeting this gene. (DrugBank Version 5.1.0 2018-04-02) |
| UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
| Q8WVQ1 | approved | DB03754 | Tromethamine | small molecule | Q8WVQ1 |
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RelatedDiseases for CANT1 |
| 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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