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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 IQCA1 |
 Gene summary |
| Gene information | Gene symbol | IQCA1 | Gene ID | 79781 |
| Gene name | IQ motif containing with AAA domain 1 | |
| Synonyms | 4930465P12Rik|DRC11|IQCA | |
| Cytomap | 2q37.2-q37.3 | |
| Type of gene | protein-coding | |
| Description | dynein regulatory complex protein 11IQ and AAA domain-containing protein 1dynein regulatory complex subunit 11 | |
| 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 IQCA1 |
| 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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ENSG00000132321
| 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 IQCA1 |
| 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_123790 | chr2 | 236399413:236399488:236419149:236419271:236441040:236441124 | 236419149:236419271 |
| exon_skip_132292 | chr2 | 236331359:236331597:236338205:236338382:236344557:236344643 | 236338205:236338382 |
| exon_skip_166411 | chr2 | 236486834:236486900:236488000:236488191:236493768:236493887 | 236488000:236488191 |
| exon_skip_175534 | chr2 | 236380613:236380633:236391976:236392071:236392244:236392350 | 236391976:236392071 |
| exon_skip_200640 | chr2 | 236380569:236380636:236391976:236392071:236392244:236392350 | 236391976:236392071 |
| exon_skip_245874 | chr2 | 236419149:236419271:236441040:236441124:236465505:236465710 | 236441040:236441124 |
| exon_skip_53143 | chr2 | 236363780:236363979:236368194:236368301:236377103:236377185 | 236368194:236368301 |
| exon_skip_872 | chr2 | 236486829:236486900:236488000:236488191:236493768:236493887 | 236488000:236488191 |
| exon_skip_88038 | chr2 | 236338205:236338382:236344557:236344643:236363780:236363979 | 236344557:236344643 |
| 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 IQCA1 |
| 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 |
| ENST00000409907 | 236338205 | 236338382 | Frame-shift |
| ENST00000409907 | 236441040 | 236441124 | Frame-shift |
| ENST00000409907 | 236344557 | 236344643 | In-frame |
| ENST00000409907 | 236368194 | 236368301 | In-frame |
| ENST00000409907 | 236391976 | 236392071 | In-frame |
| ENST00000409907 | 236419149 | 236419271 | In-frame |
| ENST00000409907 | 236488000 | 236488191 | 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 |
| ENST00000409907 | 236419149 | 236419271 | In-frame |
| ENST00000409907 | 236488000 | 236488191 | 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 |
| ENST00000409907 | 236391976 | 236392071 | In-frame |
| ENST00000409907 | 236419149 | 236419271 | In-frame |
| ENST00000409907 | 236488000 | 236488191 | In-frame |
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Infer the effects of exon skipping event on protein functional features for IQCA1 |
p-ENSG00000132321_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 |
| ENST00000409907 | 3298 | 822 | 236488000 | 236488191 | 732 | 922 | 152 | 215 |
| ENST00000409907 | 3298 | 822 | 236419149 | 236419271 | 1287 | 1408 | 337 | 377 |
| ENST00000409907 | 3298 | 822 | 236391976 | 236392071 | 1593 | 1687 | 439 | 470 |
| ENST00000409907 | 3298 | 822 | 236368194 | 236368301 | 1837 | 1943 | 520 | 556 |
| ENST00000409907 | 3298 | 822 | 236344557 | 236344643 | 2145 | 2230 | 623 | 651 |
| 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 |
| ENST00000409907 | 3298 | 822 | 236488000 | 236488191 | 732 | 922 | 152 | 215 |
| ENST00000409907 | 3298 | 822 | 236419149 | 236419271 | 1287 | 1408 | 337 | 377 |
| 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 |
| ENST00000409907 | 3298 | 822 | 236488000 | 236488191 | 732 | 922 | 152 | 215 |
| ENST00000409907 | 3298 | 822 | 236419149 | 236419271 | 1287 | 1408 | 337 | 377 |
| ENST00000409907 | 3298 | 822 | 236391976 | 236392071 | 1593 | 1687 | 439 | 470 |
| 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 |
| Q86XH1 | 152 | 215 | 1 | 822 | Chain | ID=PRO_0000283572;Note=Dynein regulatory complex protein 11 |
| Q86XH1 | 152 | 215 | 207 | 236 | Domain | Note=IQ;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00116 |
| Q86XH1 | 152 | 215 | 199 | 199 | Sequence conflict | Note=M->I;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q86XH1 | 337 | 377 | 338 | 378 | Alternative sequence | ID=VSP_047012;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| Q86XH1 | 337 | 377 | 1 | 822 | Chain | ID=PRO_0000283572;Note=Dynein regulatory complex protein 11 |
| Q86XH1 | 337 | 377 | 351 | 487 | Compositional bias | Note=Lys-rich |
| Q86XH1 | 337 | 377 | 362 | 362 | Natural variant | ID=VAR_060984;Note=Q->R;Dbxref=dbSNP:rs3754644 |
| Q86XH1 | 439 | 470 | 470 | 470 | Alternative sequence | ID=VSP_024327;Note=In isoform 2. D->DK;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:14702039,ECO:0000303|PubMed:15489334;Dbxref=PMID:14702039,PMID:15489334 |
| Q86XH1 | 439 | 470 | 1 | 822 | Chain | ID=PRO_0000283572;Note=Dynein regulatory complex protein 11 |
| Q86XH1 | 439 | 470 | 351 | 487 | Compositional bias | Note=Lys-rich |
| Q86XH1 | 439 | 470 | 452 | 452 | Natural variant | ID=VAR_031495;Note=K->R;Dbxref=dbSNP:rs10204742 |
| Q86XH1 | 520 | 556 | 1 | 822 | Chain | ID=PRO_0000283572;Note=Dynein regulatory complex protein 11 |
| Q86XH1 | 623 | 651 | 1 | 822 | Chain | ID=PRO_0000283572;Note=Dynein regulatory complex protein 11 |
| 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 |
| Q86XH1 | 152 | 215 | 1 | 822 | Chain | ID=PRO_0000283572;Note=Dynein regulatory complex protein 11 |
| Q86XH1 | 152 | 215 | 207 | 236 | Domain | Note=IQ;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00116 |
| Q86XH1 | 152 | 215 | 199 | 199 | Sequence conflict | Note=M->I;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q86XH1 | 337 | 377 | 338 | 378 | Alternative sequence | ID=VSP_047012;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| Q86XH1 | 337 | 377 | 1 | 822 | Chain | ID=PRO_0000283572;Note=Dynein regulatory complex protein 11 |
| Q86XH1 | 337 | 377 | 351 | 487 | Compositional bias | Note=Lys-rich |
| Q86XH1 | 337 | 377 | 362 | 362 | Natural variant | ID=VAR_060984;Note=Q->R;Dbxref=dbSNP:rs3754644 |
| 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 |
| Q86XH1 | 152 | 215 | 1 | 822 | Chain | ID=PRO_0000283572;Note=Dynein regulatory complex protein 11 |
| Q86XH1 | 152 | 215 | 207 | 236 | Domain | Note=IQ;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00116 |
| Q86XH1 | 152 | 215 | 199 | 199 | Sequence conflict | Note=M->I;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q86XH1 | 337 | 377 | 338 | 378 | Alternative sequence | ID=VSP_047012;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| Q86XH1 | 337 | 377 | 1 | 822 | Chain | ID=PRO_0000283572;Note=Dynein regulatory complex protein 11 |
| Q86XH1 | 337 | 377 | 351 | 487 | Compositional bias | Note=Lys-rich |
| Q86XH1 | 337 | 377 | 362 | 362 | Natural variant | ID=VAR_060984;Note=Q->R;Dbxref=dbSNP:rs3754644 |
| Q86XH1 | 439 | 470 | 470 | 470 | Alternative sequence | ID=VSP_024327;Note=In isoform 2. D->DK;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:14702039,ECO:0000303|PubMed:15489334;Dbxref=PMID:14702039,PMID:15489334 |
| Q86XH1 | 439 | 470 | 1 | 822 | Chain | ID=PRO_0000283572;Note=Dynein regulatory complex protein 11 |
| Q86XH1 | 439 | 470 | 351 | 487 | Compositional bias | Note=Lys-rich |
| Q86XH1 | 439 | 470 | 452 | 452 | Natural variant | ID=VAR_031495;Note=K->R;Dbxref=dbSNP:rs10204742 |
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3'-UTR located exon skipping events that lost miRNA binding sites in IQCA1 |
| 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 IQCA1 |
| - 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 IQCA1 |
| 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 IQCA1 |
| 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 IQCA1 |
| Correlated RBP and related information. |
| Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
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RelatedDrugs for IQCA1 |
| 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 IQCA1 |
| 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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