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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 ATIC |
 Gene summary |
| Gene information | Gene symbol | ATIC | Gene ID | 471 |
| Gene name | 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase | |
| Synonyms | AICAR|AICARFT|HEL-S-70p|IMPCHASE|PURH | |
| Cytomap | 2q35 | |
| Type of gene | protein-coding | |
| Description | bifunctional purine biosynthesis protein PURH5-aminoimidazole-4-carboxamide-1-beta-D-ribonucleotide transformylase/inosinicaseAICAR formyltransferase/IMP cyclohydrolase bifunctional enzymeAICARFT/IMPCHASEepididymis secretory sperm binding protein Li 7 | |
| 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 ATIC |
| 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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ENSG00000138363
| 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 | ENST00000442048.3 | ATIC-206:lncRNA:ATIC | 4.377493e+01 | -1.151968e+00 | 9.784221e-11 | 6.193749e-09 |
| CB | DOWN | ENST00000478734.1 | ATIC-212:retained_intron:ATIC | 1.567617e+01 | -8.570078e-01 | 3.440737e-06 | 4.286009e-05 |
| TC | DOWN | ENST00000442048.3 | ATIC-206:lncRNA:ATIC | 8.116274e+01 | -9.196837e-01 | 1.688767e-07 | 9.387388e-06 |
| 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 ATIC |
| 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_131928 | chr2 | 215336035:215336124:215338779:215338907:215344779:215344871 | 215338779:215338907 |
| exon_skip_131989 | chr2 | 215325987:215326138:215326822:215326978:215332382:215332465 | 215326822:215326978 |
| exon_skip_201202 | chr2 | 215326822:215326978:215332382:215332507:215333350:215333457 | 215332382:215332507 |
| exon_skip_201603 | chr2 | 215344779:215344871:215346759:215346941:215349094:215349249 | 215346759:215346941 |
| exon_skip_208856 | chr2 | 215318159:215318233:215319665:215319731:215325241:215325329 | 215319665:215319731 |
| exon_skip_210523 | chr2 | 215319665:215319731:215325241:215325329:215325987:215326056 | 215325241:215325329 |
| exon_skip_230011 | chr2 | 215325241:215325329:215325987:215326138:215326822:215326978 | 215325987:215326138 |
| exon_skip_278240 | chr2 | 215333350:215333457:215334919:215335004:215336035:215336124 | 215334919:215335004 |
| exon_skip_289182 | chr2 | 215319665:215319731:215325180:215325329:215325987:215326056 | 215325180:215325329 |
| exon_skip_44585 | chr2 | 215325987:215326138:215326822:215326978:215332382:215332507 | 215326822:215326978 |
| exon_skip_63591 | chr2 | 215318157:215318233:215319665:215319731:215325241:215325329 | 215319665:215319731 |
| exon_skip_90727 | chr2 | 215318157:215318233:215325241:215325329:215325987:215326056 | 215325241:215325329 |
| 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 ATIC |
| 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 |
| ENST00000236959 | 215319665 | 215319731 | Frame-shift |
| ENST00000236959 | 215325987 | 215326138 | Frame-shift |
| ENST00000236959 | 215326822 | 215326978 | Frame-shift |
| ENST00000236959 | 215334919 | 215335004 | Frame-shift |
| ENST00000236959 | 215338779 | 215338907 | 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 |
| ENST00000236959 | 215319665 | 215319731 | Frame-shift |
| ENST00000236959 | 215326822 | 215326978 | Frame-shift |
| ENST00000236959 | 215334919 | 215335004 | Frame-shift |
| 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 |
| ENST00000236959 | 215319665 | 215319731 | Frame-shift |
| ENST00000236959 | 215325241 | 215325329 | Frame-shift |
| ENST00000236959 | 215325987 | 215326138 | Frame-shift |
| ENST00000236959 | 215326822 | 215326978 | Frame-shift |
| ENST00000236959 | 215334919 | 215335004 | Frame-shift |
| ENST00000236959 | 215332382 | 215332507 | In-frame |
| ENST00000236959 | 215338779 | 215338907 | In-frame |
| ENST00000236959 | 215346759 | 215346941 | In-frame |
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Infer the effects of exon skipping event on protein functional features for ATIC |
p-ENSG00000138363_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 |
| ENST00000236959 | 2230 | 592 | 215338779 | 215338907 | 1426 | 1553 | 366 | 409 |
| 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 |
| ENST00000236959 | 2230 | 592 | 215332382 | 215332507 | 1016 | 1140 | 230 | 271 |
| ENST00000236959 | 2230 | 592 | 215338779 | 215338907 | 1426 | 1553 | 366 | 409 |
| ENST00000236959 | 2230 | 592 | 215346759 | 215346941 | 1648 | 1829 | 440 | 501 |
| 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 |
| P31939 | 366 | 409 | 363 | 367 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5UZ0 |
| P31939 | 366 | 409 | 375 | 381 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5UZ0 |
| P31939 | 366 | 409 | 384 | 389 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5UZ0 |
| P31939 | 366 | 409 | 1 | 592 | Chain | ID=PRO_0000192156;Note=Bifunctional purine biosynthesis protein PURH |
| P31939 | 366 | 409 | 2 | 592 | Chain | ID=PRO_0000434376;Note=Bifunctional purine biosynthesis protein PURH%2C N-terminally processed |
| P31939 | 366 | 409 | 397 | 400 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5UZ0 |
| 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 |
| P31939 | 230 | 271 | 267 | 267 | Active site | Note=Proton acceptor;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| P31939 | 230 | 271 | 227 | 233 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5UZ0 |
| P31939 | 230 | 271 | 261 | 266 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5UZ0 |
| P31939 | 230 | 271 | 269 | 275 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5UZ0 |
| P31939 | 230 | 271 | 1 | 592 | Chain | ID=PRO_0000192156;Note=Bifunctional purine biosynthesis protein PURH |
| P31939 | 230 | 271 | 2 | 592 | Chain | ID=PRO_0000434376;Note=Bifunctional purine biosynthesis protein PURH%2C N-terminally processed |
| P31939 | 230 | 271 | 237 | 257 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5UZ0 |
| P31939 | 230 | 271 | 266 | 266 | Site | Note=Transition state stabilizer;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| P31939 | 366 | 409 | 363 | 367 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5UZ0 |
| P31939 | 366 | 409 | 375 | 381 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5UZ0 |
| P31939 | 366 | 409 | 384 | 389 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5UZ0 |
| P31939 | 366 | 409 | 1 | 592 | Chain | ID=PRO_0000192156;Note=Bifunctional purine biosynthesis protein PURH |
| P31939 | 366 | 409 | 2 | 592 | Chain | ID=PRO_0000434376;Note=Bifunctional purine biosynthesis protein PURH%2C N-terminally processed |
| P31939 | 366 | 409 | 397 | 400 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5UZ0 |
| P31939 | 440 | 501 | 440 | 445 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5UZ0 |
| P31939 | 440 | 501 | 451 | 451 | Binding site | Note=AICAR%3B shared with dimeric partner;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:14966129;Dbxref=PMID:14966129 |
| P31939 | 440 | 501 | 1 | 592 | Chain | ID=PRO_0000192156;Note=Bifunctional purine biosynthesis protein PURH |
| P31939 | 440 | 501 | 2 | 592 | Chain | ID=PRO_0000434376;Note=Bifunctional purine biosynthesis protein PURH%2C N-terminally processed |
| P31939 | 440 | 501 | 451 | 467 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5UZ0 |
| P31939 | 440 | 501 | 471 | 474 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5UZ0 |
| P31939 | 440 | 501 | 484 | 496 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5UZ0 |
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3'-UTR located exon skipping events that lost miRNA binding sites in ATIC |
| 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 ATIC |
| - 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 ATIC |
| 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 ATIC |
| 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 ATIC |
| Correlated RBP and related information. |
| Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
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RelatedDrugs for ATIC |
| Approved drugs targeting this gene. (DrugBank Version 5.1.0 2018-04-02) |
| UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
| P31939 | approved|investigational | DB00642 | Pemetrexed | small molecule | P31939 |
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RelatedDiseases for ATIC |
| 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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