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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 NUMA1 |
 Gene summary |
| Gene ontology of each this gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
| Gene | GO ID | GO term | PubMed ID |
| NUMA1 | GO:0000132 | establishment of mitotic spindle orientation | 21816348 |
| NUMA1 | GO:0030953 | astral microtubule organization | 12445386 |
| NUMA1 | GO:0060236 | regulation of mitotic spindle organization | 26195665 |
| NUMA1 | GO:1902365 | positive regulation of protein localization to spindle pole body | 16076287 |
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Gene structures and expression levels for NUMA1 |
| 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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ENSG00000137497
| 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 | ENST00000540626.5 | NUMA1-217:retained_intron:NUMA1 | 4.105447e+00 | 4.775849e+00 | 1.064955e-07 | 1.594214e-05 |
| CB | DOWN | ENST00000540626.5 | NUMA1-217:retained_intron:NUMA1 | 2.026746e+03 | -9.813442e-01 | 3.118996e-09 | 1.131871e-07 |
| CB | DOWN | ENST00000541584.5 | NUMA1-220:protein_coding:NUMA1 | 2.767348e+02 | -1.869418e+00 | 1.136984e-06 | 1.673502e-05 |
| CB | UP | ENST00000546131.1 | NUMA1-231:protein_coding:NUMA1 | 3.859276e+00 | 8.518144e-01 | 7.791990e-05 | 6.003672e-04 |
| 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 NUMA1 |
| 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_130408 | chr11 | 72007189:72007435:72008092:72008145:72008688:72008845 | 72008092:72008145 |
| exon_skip_142244 | chr11 | 72035902:72035975:72062589:72062686:72069842:72069911 | 72062589:72062686 |
| exon_skip_16488 | chr11 | 72010786:72010854:72012401:72012442:72012895:72012926 | 72012401:72012442 |
| exon_skip_198076 | chr11 | 72023138:72023147:72024274:72024353:72029205:72029290 | 72024274:72024353 |
| exon_skip_207629 | chr11 | 72009268:72009387:72010786:72010854:72012895:72012913 | 72010786:72010854 |
| exon_skip_237373 | chr11 | 72010807:72010854:72012401:72012442:72012895:72012926 | 72012401:72012442 |
| exon_skip_238087 | chr11 | 72035902:72035975:72068079:72068231:72069842:72069911 | 72068079:72068231 |
| exon_skip_246130 | chr11 | 72035902:72035975:72068105:72068231:72069842:72069911 | 72068105:72068231 |
| exon_skip_247180 | chr11 | 72024313:72024353:72029205:72029290:72035902:72035975 | 72029205:72029290 |
| exon_skip_257316 | chr11 | 72035902:72035975:72068496:72068617:72069842:72069911 | 72068496:72068617 |
| exon_skip_26116 | chr11 | 72010807:72010854:72012401:72012442:72012895:72012913 | 72012401:72012442 |
| exon_skip_27970 | chr11 | 72010786:72010854:72012895:72016260:72016408:72016530 | 72012895:72016260 |
| exon_skip_296317 | chr11 | 72035902:72035975:72049419:72049539:72069842:72069911 | 72049419:72049539 |
| exon_skip_89917 | chr11 | 72009268:72009387:72010786:72010854:72012895:72012926 | 72010786:72010854 |
| 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 NUMA1 |
| 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 |
| ENST00000393695 | 72012401 | 72012442 | 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 |
| ENST00000393695 | 72012401 | 72012442 | 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 |
| ENST00000393695 | 72024274 | 72024353 | Frame-shift |
| ENST00000393695 | 72029205 | 72029290 | Frame-shift |
| ENST00000393695 | 72012401 | 72012442 | In-frame |
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Infer the effects of exon skipping event on protein functional features for NUMA1 |
p-ENSG00000137497_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 |
| ENST00000393695 | 7360 | 2115 | 72012401 | 72012442 | 4941 | 4981 | 1536 | 1549 |
| 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 |
| ENST00000393695 | 7360 | 2115 | 72012401 | 72012442 | 4941 | 4981 | 1536 | 1549 |
| 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 |
| ENST00000393695 | 7360 | 2115 | 72012401 | 72012442 | 4941 | 4981 | 1536 | 1549 |
| 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 |
| Q14980 | 1536 | 1549 | 414 | 1549 | Alternative sequence | ID=VSP_054146;Note=In isoform 5. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| Q14980 | 1536 | 1549 | 1536 | 1549 | Alternative sequence | ID=VSP_012910;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:1541636;Dbxref=PMID:1541636 |
| Q14980 | 1536 | 1549 | 1 | 2115 | Chain | ID=PRO_0000057998;Note=Nuclear mitotic apparatus protein 1 |
| Q14980 | 1536 | 1549 | 213 | 1699 | Coiled coil | Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| 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 |
| Q14980 | 1536 | 1549 | 414 | 1549 | Alternative sequence | ID=VSP_054146;Note=In isoform 5. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| Q14980 | 1536 | 1549 | 1536 | 1549 | Alternative sequence | ID=VSP_012910;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:1541636;Dbxref=PMID:1541636 |
| Q14980 | 1536 | 1549 | 1 | 2115 | Chain | ID=PRO_0000057998;Note=Nuclear mitotic apparatus protein 1 |
| Q14980 | 1536 | 1549 | 213 | 1699 | Coiled coil | Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| 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 |
| Q14980 | 1536 | 1549 | 414 | 1549 | Alternative sequence | ID=VSP_054146;Note=In isoform 5. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| Q14980 | 1536 | 1549 | 1536 | 1549 | Alternative sequence | ID=VSP_012910;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:1541636;Dbxref=PMID:1541636 |
| Q14980 | 1536 | 1549 | 1 | 2115 | Chain | ID=PRO_0000057998;Note=Nuclear mitotic apparatus protein 1 |
| Q14980 | 1536 | 1549 | 213 | 1699 | Coiled coil | Ontology_term=ECO:0000255;evidence=ECO:0000255 |
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3'-UTR located exon skipping events that lost miRNA binding sites in NUMA1 |
| 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 NUMA1 |
| - 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 NUMA1 |
| 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 NUMA1 |
| 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 NUMA1 |
| Correlated RBP and related information. |
| Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
| CB | MSI1 | exon_skip_26116 | -5.084189e-01 | 7.829965e-12 |
| CB | RALYL | exon_skip_26116 | 4.399272e-01 | 6.548079e-09 |
| DLPFC | SRSF2 | exon_skip_237373 | 5.441056e-01 | 3.328587e-20 |
| DLPFC | KHDRBS2 | exon_skip_237373 | 7.149205e-01 | 1.770309e-39 |
| DLPFC | RALYL | exon_skip_237373 | 7.229943e-01 | 9.556828e-41 |
| DLPFC | EWSR1 | exon_skip_237373 | 4.718926e-01 | 6.196377e-15 |
| DLPFC | SRSF1 | exon_skip_237373 | 4.736726e-01 | 4.749501e-15 |
| DLPFC | ESRP1 | exon_skip_237373 | 5.597637e-01 | 1.599049e-21 |
| FL | RALYL | exon_skip_16488 | 4.844401e-01 | 7.196326e-13 |
| HCC | MSI1 | exon_skip_237373 | -5.744617e-01 | 2.265736e-25 |
| HCC | KHDRBS2 | exon_skip_237373 | 5.355735e-01 | 1.146260e-21 |
| IFG | KHDRBS2 | exon_skip_16488 | 5.487675e-01 | 2.495250e-03 |
| IFG | RALYL | exon_skip_16488 | 5.452058e-01 | 2.696688e-03 |
| IFG | RBM23 | exon_skip_296317 | -5.409193e-01 | 6.346413e-03 |
| PCC | RALYL | exon_skip_237373 | 4.002320e-01 | 1.123138e-09 |
| PG | KHDRBS2 | exon_skip_237373 | 5.087593e-01 | 2.670075e-14 |
| PG | RALYL | exon_skip_237373 | 6.076102e-01 | 3.633293e-21 |
| PG | EWSR1 | exon_skip_237373 | 4.853478e-01 | 5.606379e-13 |
| STG | MSI1 | exon_skip_16488 | -5.081577e-01 | 2.329309e-07 |
| STG | RALYL | exon_skip_16488 | 4.301360e-01 | 1.874577e-05 |
| TC | KHDRBS2 | exon_skip_26116 | 7.942822e-01 | 5.084123e-36 |
| TC | RALYL | exon_skip_26116 | 8.487037e-01 | 1.449039e-45 |
| TC | ESRP1 | exon_skip_26116 | 6.902616e-01 | 5.714069e-24 |
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RelatedDrugs for NUMA1 |
| 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 NUMA1 |
| 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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