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| Open reading frame (ORF) annotation in the exon skipping event |
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| Splicing Quantitative Trait Loci (sQTLs) in the skipped exons |
| Splicing Quantitative Trait Methylation (sQTM) in the skipped exon |
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Gene summary for NFKB2 |
 Gene summary |
| Gene information | Gene symbol | NFKB2 | Gene ID | 4791 |
| Gene name | nuclear factor kappa B subunit 2 | |
| Synonyms | CVID10|H2TF1|LYT-10|LYT10|NF-kB2|p100|p49/p100|p52 | |
| Cytomap | 10q24.32 | |
| Type of gene | protein-coding | |
| Description | nuclear factor NF-kappa-B p100 subunitDNA-binding factor KBF2NFKB, p52/p100 subunitlymphocyte translocation chromosome 10 proteinnuclear factor Kappa-B, subunit 2nuclear factor NF-kappa-B p52 subunitnuclear factor of Kappa light chain gene enhancer | |
| Modification date | 20180519 | |
| UniProtAcc | Q00653 | |
| Context | PubMed: NFKB2 [Title/Abstract] AND exon [Title/Abstract] AND skip [Title/Abstract] - Title (PMID) |
| Gene ontology of each this gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
| Gene | GO ID | GO term | PubMed ID |
| NFKB2 | GO:0006355 | regulation of transcription, DNA-templated | 8360178 |
| NFKB2 | GO:0045944 | positive regulation of transcription by RNA polymerase II | 12835724 |
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Exon skipping events across known transcript of Ensembl for NFKB2 from UCSC genome browser |
| Skipped exons in TCGA and GTEx 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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Gene isoform structures and expression levels for NFKB2 |
| Expression levels of gene isoforms across TCGA. |
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| Expression levels of gene isoforms across GTEx. |
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Exon skipping events with PSIs in TCGA for NFKB2 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_44671 | 10 | 104156205:104156246:104156481:104156580:104156660:104156812 | 104156481:104156580 | ENSG00000077150.13 | ENST00000189444.6,ENST00000428099.1,ENST00000467116.1,ENST00000369966.3 |
| exon_skip_44675 | 10 | 104157968:104158054:104158141:104158280:104158495:104158621 | 104158141:104158280 | ENSG00000077150.13 | ENST00000189444.6,ENST00000428099.1,ENST00000336486.5,ENST00000467116.1,ENST00000369966.3 |
| exon_skip_44676 | 10 | 104158141:104158280:104158495:104158621:104159044:104159254 | 104158495:104158621 | ENSG00000077150.13 | ENST00000189444.6,ENST00000428099.1,ENST00000336486.5,ENST00000369966.3 |
| exon_skip_44681 | 10 | 104159836:104159951:104160034:104160248:104160411:104160581 | 104160034:104160248 | ENSG00000077150.13 | ENST00000189444.6,ENST00000428099.1,ENST00000369966.3 |
| exon_skip_44685 | 10 | 104161205:104161275:104161501:104161674:104161804:104161916 | 104161501:104161674 | ENSG00000077150.13 | ENST00000189444.6,ENST00000428099.1,ENST00000369966.3 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for NFKB2 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_44671 | 10 | 104156205:104156246:104156481:104156580:104156660:104156812 | 104156481:104156580 | ENSG00000077150.13 | ENST00000428099.1,ENST00000369966.3,ENST00000467116.1,ENST00000189444.6 |
| exon_skip_44675 | 10 | 104157968:104158054:104158141:104158280:104158495:104158621 | 104158141:104158280 | ENSG00000077150.13 | ENST00000428099.1,ENST00000369966.3,ENST00000467116.1,ENST00000189444.6,ENST00000336486.5 |
| exon_skip_44676 | 10 | 104158141:104158280:104158495:104158621:104159044:104159254 | 104158495:104158621 | ENSG00000077150.13 | ENST00000428099.1,ENST00000369966.3,ENST00000189444.6,ENST00000336486.5 |
| exon_skip_44681 | 10 | 104159836:104159951:104160034:104160248:104160411:104160581 | 104160034:104160248 | ENSG00000077150.13 | ENST00000428099.1,ENST00000369966.3,ENST00000189444.6 |
| exon_skip_44685 | 10 | 104161205:104161275:104161501:104161674:104161804:104161916 | 104161501:104161674 | ENSG00000077150.13 | ENST00000428099.1,ENST00000369966.3,ENST00000189444.6 |
| PSI values of skipped exons in GTEx. |
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| * Skipped exon sequences. |
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Open reading frame (ORF) annotation in the exon skipping event for NFKB2 |
| Open reading frame (ORF) of individual exon skipping events in TCGA based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
| ENST00000369966 | 104158141 | 104158280 | Frame-shift |
| ENST00000369966 | 104160034 | 104160248 | Frame-shift |
| ENST00000369966 | 104161501 | 104161674 | Frame-shift |
| ENST00000369966 | 104156481 | 104156580 | In-frame |
| ENST00000369966 | 104158495 | 104158621 | In-frame |
| Open reading frame (ORF) of individual exon skipping events in GTEx based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
| ENST00000369966 | 104158141 | 104158280 | Frame-shift |
| ENST00000369966 | 104160034 | 104160248 | Frame-shift |
| ENST00000369966 | 104161501 | 104161674 | Frame-shift |
| ENST00000369966 | 104156481 | 104156580 | In-frame |
| ENST00000369966 | 104158495 | 104158621 | In-frame |
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Infer the effects of exon skipping event on protein functional features for NFKB2 |
| Exon skipping at the protein sequence level and followed lost functional features. * Click on the image to enlarge it in a new window. |
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| Loci of skipped exons in TCGA 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 |
| ENST00000369966 | 3118 | 900 | 104156481 | 104156580 | 395 | 493 | 48 | 81 |
| ENST00000369966 | 3118 | 900 | 104158495 | 104158621 | 1242 | 1367 | 330 | 372 |
| Loci of skipped exons in GTEx 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 |
| ENST00000369966 | 3118 | 900 | 104156481 | 104156580 | 395 | 493 | 48 | 81 |
| ENST00000369966 | 3118 | 900 | 104158495 | 104158621 | 1242 | 1367 | 330 | 372 |
| Lost protein functional features of individual exon skipping events in TCGA. |
| 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 |
| Q00653 | 48 | 81 | 48 | 51 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1A3Q |
| Q00653 | 48 | 81 | 79 | 83 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1A3Q |
| Q00653 | 48 | 81 | 1 | 900 | Chain | ID=PRO_0000030321;Note=Nuclear factor NF-kappa-B p100 subunit |
| Q00653 | 48 | 81 | 1 | 454 | Chain | ID=PRO_0000030322;Note=Nuclear factor NF-kappa-B p52 subunit |
| Q00653 | 48 | 81 | 38 | 343 | Domain | Note=RHD;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00265 |
| Q00653 | 48 | 81 | 56 | 58 | Turn | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1A3Q |
| Q00653 | 330 | 372 | 1 | 900 | Chain | ID=PRO_0000030321;Note=Nuclear factor NF-kappa-B p100 subunit |
| Q00653 | 330 | 372 | 1 | 454 | Chain | ID=PRO_0000030322;Note=Nuclear factor NF-kappa-B p52 subunit |
| Q00653 | 330 | 372 | 350 | 400 | Compositional bias | Note=Gly-rich |
| Q00653 | 330 | 372 | 38 | 343 | Domain | Note=RHD;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00265 |
| Q00653 | 330 | 372 | 337 | 341 | Motif | Note=Nuclear localization signal;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q00653 | 330 | 372 | 351 | 351 | Natural variant | ID=VAR_022224;Note=G->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|Ref.7;Dbxref=dbSNP:rs45580031 |
| Q00653 | 330 | 372 | 346 | 377 | Region | Note=GRR |
| Lost protein functional features of individual exon skipping events in GTEx. |
| 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 |
| Q00653 | 48 | 81 | 48 | 51 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1A3Q |
| Q00653 | 48 | 81 | 79 | 83 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1A3Q |
| Q00653 | 48 | 81 | 1 | 900 | Chain | ID=PRO_0000030321;Note=Nuclear factor NF-kappa-B p100 subunit |
| Q00653 | 48 | 81 | 1 | 454 | Chain | ID=PRO_0000030322;Note=Nuclear factor NF-kappa-B p52 subunit |
| Q00653 | 48 | 81 | 38 | 343 | Domain | Note=RHD;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00265 |
| Q00653 | 48 | 81 | 56 | 58 | Turn | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1A3Q |
| Q00653 | 330 | 372 | 1 | 900 | Chain | ID=PRO_0000030321;Note=Nuclear factor NF-kappa-B p100 subunit |
| Q00653 | 330 | 372 | 1 | 454 | Chain | ID=PRO_0000030322;Note=Nuclear factor NF-kappa-B p52 subunit |
| Q00653 | 330 | 372 | 350 | 400 | Compositional bias | Note=Gly-rich |
| Q00653 | 330 | 372 | 38 | 343 | Domain | Note=RHD;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00265 |
| Q00653 | 330 | 372 | 337 | 341 | Motif | Note=Nuclear localization signal;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q00653 | 330 | 372 | 351 | 351 | Natural variant | ID=VAR_022224;Note=G->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|Ref.7;Dbxref=dbSNP:rs45580031 |
| Q00653 | 330 | 372 | 346 | 377 | Region | Note=GRR |
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SNVs in the skipped exons for NFKB2 |
| - Lollipop plot for presenting exon skipping associated SNVs. * Click on the image to enlarge it in a new window. |
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| - Differential PSIs between mutated versus non-mutated samples. |
| - Non-synonymous mutations located in the skipped exons in TCGA. |
| Cancer type | Sample | ESID | Skipped exon start | Skipped exon end | Mutation start | Mutation end | Mutation type | Reference seq | Mutation seq | AAchange |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_44675 | 104158142 | 104158280 | 104158163 | 104158163 | Frame_Shift_Del | C | - | p.P293fs |
| STAD | TCGA-BR-4201-01 | exon_skip_44675 | 104158142 | 104158280 | 104158163 | 104158163 | Frame_Shift_Del | C | - | p.T291fs |
| STAD | TCGA-CG-5726-01 | exon_skip_44675 | 104158142 | 104158280 | 104158163 | 104158163 | Frame_Shift_Del | C | - | p.T291fs |
| UCEC | TCGA-D1-A17U-01 | exon_skip_44675 | 104158142 | 104158280 | 104158163 | 104158163 | Frame_Shift_Del | C | - | p.P292fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_44676 | 104158496 | 104158621 | 104158549 | 104158549 | Frame_Shift_Del | C | - | p.P349fs |
| BRCA | TCGA-A7-A0DA-01 | exon_skip_44681 | 104160035 | 104160248 | 104160244 | 104160249 | Frame_Shift_Del | TGAGGG | - | p.F598fs |
| - Depth of coverage in the three exons composing exon skipping event |
| Depth of coverage in three exons | Mutation description |
| - 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 |
| CMLT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 104158142 | 104158280 | 104158163 | 104158163 | Frame_Shift_Del | C | - | p.P293fs |
| SNU81_LARGE_INTESTINE | 104156482 | 104156580 | 104156498 | 104156498 | Missense_Mutation | G | A | p.R54Q |
| MOLT3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 104156482 | 104156580 | 104156528 | 104156528 | Missense_Mutation | G | T | p.G64V |
| KPMRTRY_SOFT_TISSUE | 104156482 | 104156580 | 104156558 | 104156558 | Missense_Mutation | G | A | p.R74Q |
| SNU1040_LARGE_INTESTINE | 104158142 | 104158280 | 104158145 | 104158145 | Missense_Mutation | G | A | p.A286T |
| SNU1040_LARGE_INTESTINE | 104158496 | 104158621 | 104158520 | 104158520 | Missense_Mutation | G | A | p.R339Q |
| HCC515_LUNG | 104160035 | 104160248 | 104160093 | 104160093 | Missense_Mutation | G | T | p.R548L |
| SNU1040_LARGE_INTESTINE | 104160035 | 104160248 | 104160150 | 104160150 | Missense_Mutation | C | T | p.A567V |
| HCC15_LUNG | 104160035 | 104160248 | 104160162 | 104160162 | Missense_Mutation | G | T | p.G571V |
| CTV1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 104161502 | 104161674 | 104161574 | 104161574 | Missense_Mutation | G | A | p.G789D |
| DND41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 104161502 | 104161674 | 104161648 | 104161648 | Missense_Mutation | A | G | p.S814G |
| JURKAT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 104161502 | 104161674 | 104161663 | 104161663 | Missense_Mutation | C | T | p.R819C |
| HEC108_ENDOMETRIUM | 104160035 | 104160248 | 104160036 | 104160036 | Splice_Site | C | T | p.T529M |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for NFKB2 |
| sQTL information located at the skipped exons. |
| Exon skip ID | Chromosome | Three exons | Skippped exon | ENST | Cancer type | SNP id | Location | DNA change (ref/var) | P-value |
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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for NFKB2 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for NFKB2 |
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RelatedDrugs for NFKB2 |
| Approved drugs targeting this gene. (DrugBank Version 5.1.0 2018-04-02) |
| Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
| Q00653 | DB13751 | Glycyrrhizic acid | Nuclear factor NF-kappa-B p100 subunit | small molecule | approved|experimental | |
| Q00653 | DB01296 | Glucosamine | Nuclear factor NF-kappa-B p100 subunit | small molecule | approved|investigational | |
| Q00653 | DB00945 | Acetylsalicylic acid | Nuclear factor NF-kappa-B p100 subunit | small molecule | approved|vet_approved |
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RelatedDiseases for NFKB2 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| NFKB2 | C0018843 | Heat Stroke | 1 | CTD_human |
| NFKB2 | C0079773 | Lymphoma, T-Cell, Cutaneous | 1 | CTD_human |
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