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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 ASPM |
 Gene summary |
| Gene information | Gene symbol | ASPM | Gene ID | 259266 |
| Gene name | assembly factor for spindle microtubules | |
| Synonyms | ASP|Calmbp1|MCPH5 | |
| Cytomap | 1q31.3 | |
| Type of gene | protein-coding | |
| Description | abnormal spindle-like microcephaly-associated proteinabnormal spindle microtubule assemblyasp (abnormal spindle) homolog, microcephaly associated | |
| Modification date | 20200328 | |
| 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 ASPM |
| 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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ENSG00000066279
| 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 ASPM |
| Landscape of individual exon skipping event across AD tissues and controls (PSI heatmap). |
| All exon skipping events in AD cohorts. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon |
| exon_skip_145746 | chr1 | 197095998:197096164:197100431:197105185:197117789:197117983 | 197100431:197105185 |
| 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 ASPM |
| 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 |
| ENST00000367409 | 197100431 | 197105185 | 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 |
| 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 |
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Infer the effects of exon skipping event on protein functional features for ASPM |
p-ENSG00000066279_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 |
| ENST00000367409 | 10904 | 3477 | 197100431 | 197105185 | 4323 | 9076 | 1355 | 2939 |
| 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 |
| Q8IZT6 | 1355 | 2939 | 1356 | 2940 | Alternative sequence | ID=VSP_010680;Note=In isoform 2. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:15489334,ECO:0000303|PubMed:15972725;Dbxref=PMID:15489334,PMID:15972725 |
| Q8IZT6 | 1355 | 2939 | 1 | 3477 | Chain | ID=PRO_0000191332;Note=Abnormal spindle-like microcephaly-associated protein |
| Q8IZT6 | 1355 | 2939 | 1347 | 1378 | Domain | Note=IQ 1;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00116 |
| Q8IZT6 | 1355 | 2939 | 1393 | 1422 | Domain | Note=IQ 2;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00116 |
| Q8IZT6 | 1355 | 2939 | 1582 | 1613 | Domain | Note=IQ 3;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00116 |
| Q8IZT6 | 1355 | 2939 | 1632 | 1661 | Domain | Note=IQ 4;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00116 |
| Q8IZT6 | 1355 | 2939 | 1655 | 1684 | Domain | Note=IQ 5;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00116 |
| Q8IZT6 | 1355 | 2939 | 1728 | 1757 | Domain | Note=IQ 6;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00116 |
| Q8IZT6 | 1355 | 2939 | 1751 | 1782 | Domain | Note=IQ 7;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00116 |
| Q8IZT6 | 1355 | 2939 | 1801 | 1830 | Domain | Note=IQ 8;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00116 |
| Q8IZT6 | 1355 | 2939 | 1824 | 1853 | Domain | Note=IQ 9;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00116 |
| Q8IZT6 | 1355 | 2939 | 1874 | 1903 | Domain | Note=IQ 10;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00116 |
| Q8IZT6 | 1355 | 2939 | 1897 | 1928 | Domain | Note=IQ 11;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00116 |
| Q8IZT6 | 1355 | 2939 | 1947 | 1978 | Domain | Note=IQ 12;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00116 |
| Q8IZT6 | 1355 | 2939 | 1970 | 2001 | Domain | Note=IQ 13;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00116 |
| Q8IZT6 | 1355 | 2939 | 2020 | 2049 | Domain | Note=IQ 14;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00116 |
| Q8IZT6 | 1355 | 2939 | 2043 | 2074 | Domain | Note=IQ 15;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00116 |
| Q8IZT6 | 1355 | 2939 | 2093 | 2124 | Domain | Note=IQ 16;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00116 |
| Q8IZT6 | 1355 | 2939 | 2116 | 2147 | Domain | Note=IQ 17;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00116 |
| Q8IZT6 | 1355 | 2939 | 2166 | 2197 | Domain | Note=IQ 18;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00116 |
| Q8IZT6 | 1355 | 2939 | 2189 | 2218 | Domain | Note=IQ 19;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00116 |
| Q8IZT6 | 1355 | 2939 | 2239 | 2270 | Domain | Note=IQ 20;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00116 |
| Q8IZT6 | 1355 | 2939 | 2262 | 2293 | Domain | Note=IQ 21;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00116 |
| Q8IZT6 | 1355 | 2939 | 2311 | 2342 | Domain | Note=IQ 22;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00116 |
| Q8IZT6 | 1355 | 2939 | 2334 | 2365 | Domain | Note=IQ 23;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00116 |
| Q8IZT6 | 1355 | 2939 | 2384 | 2415 | Domain | Note=IQ 24;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00116 |
| Q8IZT6 | 1355 | 2939 | 2407 | 2438 | Domain | Note=IQ 25;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00116 |
| Q8IZT6 | 1355 | 2939 | 2457 | 2488 | Domain | Note=IQ 26;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00116 |
| Q8IZT6 | 1355 | 2939 | 2530 | 2561 | Domain | Note=IQ 27;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00116 |
| Q8IZT6 | 1355 | 2939 | 2624 | 2653 | Domain | Note=IQ 28;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00116 |
| Q8IZT6 | 1355 | 2939 | 2665 | 2696 | Domain | Note=IQ 29;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00116 |
| Q8IZT6 | 1355 | 2939 | 2688 | 2719 | Domain | Note=IQ 30;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00116 |
| Q8IZT6 | 1355 | 2939 | 2738 | 2767 | Domain | Note=IQ 31;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00116 |
| Q8IZT6 | 1355 | 2939 | 2859 | 2890 | Domain | Note=IQ 32;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00116 |
| Q8IZT6 | 1355 | 2939 | 2909 | 2938 | Domain | Note=IQ 33;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00116 |
| Q8IZT6 | 1355 | 2939 | 2932 | 2963 | Domain | Note=IQ 34;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00116 |
| Q8IZT6 | 1355 | 2939 | 2494 | 2494 | Natural variant | ID=VAR_046760;Note=Y->H;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:12355089,ECO:0000269|PubMed:14704186,ECO:0000269|PubMed:16673149;Dbxref=dbSNP:rs964201,PMID:12355089,PMID:14704186,PMID:16673149 |
| Q8IZT6 | 1355 | 2939 | 2526 | 2526 | Natural variant | ID=VAR_071930;Note=N->D;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16673149;Dbxref=dbSNP:rs587783267,PMID:16673149 |
| Q8IZT6 | 1355 | 2939 | 2562 | 2562 | Natural variant | ID=VAR_019084;Note=S->G;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:14574646;Dbxref=dbSNP:rs41310927,PMID:14574646 |
| Q8IZT6 | 1355 | 2939 | 2620 | 2620 | Natural variant | ID=VAR_046761;Note=Q->H;Dbxref=dbSNP:rs12138336 |
| Q8IZT6 | 1355 | 2939 | 2647 | 2647 | Natural variant | ID=VAR_019085;Note=L->I;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:14574646,ECO:0000269|PubMed:16673149,ECO:0000269|PubMed:18204051;Dbxref=dbSNP:rs3762271,PMID:14574646,PMID:16673149,PMID:18204051 |
| Q8IZT6 | 1355 | 2939 | 2355 | 2355 | Sequence conflict | Note=Q->R;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q8IZT6 | 1355 | 2939 | 2355 | 2355 | Sequence conflict | Note=Q->R;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| 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 ASPM |
| 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 ASPM |
| - 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 ASPM |
| 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 ASPM |
| 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 ASPM |
| Correlated RBP and related information. |
| Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
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RelatedDrugs for ASPM |
| 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 ASPM |
| 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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