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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 NFKBIA |
 Gene summary |
| Gene information | Gene symbol | NFKBIA | Gene ID | 4792 |
| Gene name | NFKB inhibitor alpha | |
| Synonyms | EDAID2|IKBA|MAD-3|NFKBI | |
| Cytomap | 14q13.2 | |
| Type of gene | protein-coding | |
| Description | NF-kappa-B inhibitor alphaI-kappa-B-alphaIkappaBalphaikB-alphamajor histocompatibility complex enhancer-binding protein MAD3nuclear factor of kappa light chain gene enhancer in B-cellsnuclear factor of kappa light polypeptide gene enhancer in B-cell | |
| Modification date | 20200329 | |
| UniProtAcc | ||
| Context | - 26202100(Integrated Genomic Approaches Identify Major Pathways and Upstream Regulators in Late Onset Alzheimer's Disease) |
| Gene ontology of each this gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
| Gene | GO ID | GO term | PubMed ID |
| NFKBIA | GO:0007249 | I-kappaB kinase/NF-kappaB signaling | 25038658 |
| NFKBIA | GO:0032088 | negative regulation of NF-kappaB transcription factor activity | 11931770 |
| NFKBIA | GO:0033209 | tumor necrosis factor-mediated signaling pathway | 25038658 |
| NFKBIA | GO:0042994 | cytoplasmic sequestering of transcription factor | 1493333 |
| NFKBIA | GO:0045944 | positive regulation of transcription by RNA polymerase II | 19245366 |
| NFKBIA | GO:0050729 | positive regulation of inflammatory response | 25038658 |
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Gene structures and expression levels for NFKBIA |
| 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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ENSG00000100906
| 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 | ENST00000554001.5 | NFKBIA-203:nonsense_mediated_decay:NFKBIA | 1.255751e+01 | 6.136875e+00 | 6.941100e-05 | 2.099789e-03 |
| CB | UP | ENST00000557459.1 | NFKBIA-210:retained_intron:NFKBIA | 2.809971e+01 | 8.258564e-01 | 3.008531e-12 | 3.728358e-10 |
| CB | UP | ENST00000556664.1 | NFKBIA-206:retained_intron:NFKBIA | 6.225603e+00 | 8.171076e-01 | 7.656086e-08 | 1.695933e-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 NFKBIA |
| 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_121039 | chr14 | 35402442:35402663:35402771:35402859:35403150:35403360 | 35402771:35402859 |
| exon_skip_149423 | chr14 | 35402394:35402534:35402771:35402859:35403150:35403238 | 35402771:35402859 |
| exon_skip_215443 | chr14 | 35402626:35402663:35402771:35402859:35403150:35403360 | 35402771:35402859 |
| exon_skip_30883 | chr14 | 35402653:35402663:35402771:35402859:35403150:35403238 | 35402771:35402859 |
| 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 NFKBIA |
| 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 |
| ENST00000216797 | 35402771 | 35402859 | Frame-shift |
| 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 |
| ENST00000216797 | 35402771 | 35402859 | Frame-shift |
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Infer the effects of exon skipping event on protein functional features for NFKBIA |
p-ENSG00000100906_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 NFKBIA |
| 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 NFKBIA |
| - 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 NFKBIA |
| 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 NFKBIA |
| 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 NFKBIA |
| Correlated RBP and related information. |
| Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
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RelatedDrugs for NFKBIA |
| Approved drugs targeting this gene. (DrugBank Version 5.1.0 2018-04-02) |
| UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
| P25963 | approved|vet_approved | DB00945 | Acetylsalicylic acid | small molecule | P25963 |
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RelatedDiseases for NFKBIA |
| 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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