ExonSkipDB: functional annotation of exon skipping event in human

Gene summary for NFKB1

Gene summary

Gene information	Gene symbol	NFKB1
	Gene ID	4790
	Gene name	nuclear factor kappa B subunit 1
	Synonyms	CVID12\|EBP-1\|KBF1\|NF-kB1\|NF-kappa-B\|NF-kappaB\|NFKB-p105\|NFKB-p50\|NFkappaB\|p105\|p50
	Cytomap	4q24
	Type of gene	protein-coding
	Description	nuclear factor NF-kappa-B p105 subunitDNA-binding factor KBF1NF-kappabetanuclear factor NF-kappa-B p50 subunitnuclear factor kappa-B DNA binding subunitnuclear factor of kappa light polypeptide gene enhancer in B-cells 1
	Modification date	20180527
	UniProtAcc	P19838
	Context	PubMed: NFKB1 [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
NFKB1	GO:0010629	negative regulation of gene expression	26687115
NFKB1	GO:0010956	negative regulation of calcidiol 1-monooxygenase activity	15243130
NFKB1	GO:0045893	positive regulation of transcription, DNA-templated	17426251
NFKB1	GO:0045944	positive regulation of transcription by RNA polymerase II	1406630
NFKB1	GO:1900127	positive regulation of hyaluronan biosynthetic process	17324121

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Exon skipping events across known transcript of Ensembl for NFKB1 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 NFKB1

Expression levels of gene isoforms across TCGA.

Expression levels of gene isoforms across GTEx.

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Exon skipping events with PSIs in TCGA for NFKB1

Information of exkip skipping event in TCGA.

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_425340	4	103422628:103422945:103432036:103432106:103446668:103446714	103432036:103432106	ENSG00000109320.7	ENST00000507079.1,ENST00000511926.1
exon_skip_425342	4	103422628:103422945:103446668:103446714:103450992:103451071	103446668:103446714	ENSG00000109320.7	ENST00000394820.4
exon_skip_425346	4	103450992:103451071:103455001:103455042:103459014:103459056	103455001:103455042	ENSG00000109320.7	ENST00000509165.1,ENST00000507079.1,ENST00000226574.4
exon_skip_425348	4	103450992:103451071:103455004:103455042:103459014:103459056	103455004:103455042	ENSG00000109320.7	ENST00000505458.1,ENST00000394820.4,ENST00000511926.1
exon_skip_425351	4	103455004:103455042:103459014:103459113:103488143:103488241	103459014:103459113	ENSG00000109320.7	ENST00000509165.1,ENST00000505458.1,ENST00000507079.1,ENST00000394820.4,ENST00000226574.4
exon_skip_425352	4	103498032:103498196:103500037:103500196:103501691:103501745	103500037:103500196	ENSG00000109320.7	ENST00000505458.1,ENST00000510638.1,ENST00000394820.4,ENST00000226574.4
exon_skip_425355	4	103522051:103522166:103527652:103527854:103528306:103528476	103527652:103527854	ENSG00000109320.7	ENST00000505458.1,ENST00000394820.4,ENST00000600343.1,ENST00000226574.4
exon_skip_425356	4	103527652:103527854:103528306:103528476:103528805:103528908	103528306:103528476	ENSG00000109320.7	ENST00000505458.1,ENST00000394820.4,ENST00000600343.1,ENST00000226574.4
exon_skip_425358	4	103533590:103533763:103534581:103534738:103537590:103538072	103534581:103534738	ENSG00000109320.7	ENST00000505458.1,ENST00000394820.4,ENST00000600343.1,ENST00000226574.4

PSI values of skipped exons in TCGA.

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Exon skipping events with PSIs in GTEx for NFKB1

Information of exkip skipping event in GTEx

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_425340	4	103422628:103422945:103432036:103432106:103446668:103446714	103432036:103432106	ENSG00000109320.7	ENST00000511926.1,ENST00000507079.1
exon_skip_425342	4	103422628:103422945:103446668:103446714:103450992:103451071	103446668:103446714	ENSG00000109320.7	ENST00000394820.4
exon_skip_425346	4	103450992:103451071:103455001:103455042:103459014:103459056	103455001:103455042	ENSG00000109320.7	ENST00000226574.4,ENST00000507079.1,ENST00000509165.1
exon_skip_425348	4	103450992:103451071:103455004:103455042:103459014:103459056	103455004:103455042	ENSG00000109320.7	ENST00000394820.4,ENST00000511926.1,ENST00000505458.1
exon_skip_425351	4	103455004:103455042:103459014:103459113:103488143:103488241	103459014:103459113	ENSG00000109320.7	ENST00000226574.4,ENST00000394820.4,ENST00000507079.1,ENST00000505458.1,ENST00000509165.1
exon_skip_425352	4	103498032:103498196:103500037:103500196:103501691:103501745	103500037:103500196	ENSG00000109320.7	ENST00000226574.4,ENST00000394820.4,ENST00000505458.1,ENST00000510638.1
exon_skip_425355	4	103522051:103522166:103527652:103527854:103528306:103528476	103527652:103527854	ENSG00000109320.7	ENST00000226574.4,ENST00000394820.4,ENST00000505458.1,ENST00000600343.1
exon_skip_425356	4	103527652:103527854:103528306:103528476:103528805:103528908	103528306:103528476	ENSG00000109320.7	ENST00000226574.4,ENST00000394820.4,ENST00000505458.1,ENST00000600343.1
exon_skip_425358	4	103533590:103533763:103534581:103534738:103537590:103538072	103534581:103534738	ENSG00000109320.7	ENST00000226574.4,ENST00000394820.4,ENST00000505458.1,ENST00000600343.1

PSI values of skipped exons in GTEx.

* Skipped exon sequences.

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Open reading frame (ORF) annotation in the exon skipping event for NFKB1

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
ENST00000394820	103446668	103446714	5CDS-5UTR
ENST00000394820	103455004	103455042	Frame-shift
ENST00000505458	103455004	103455042	Frame-shift
ENST00000394820	103527652	103527854	Frame-shift
ENST00000505458	103527652	103527854	Frame-shift
ENST00000394820	103528306	103528476	Frame-shift
ENST00000505458	103528306	103528476	Frame-shift
ENST00000394820	103534581	103534738	Frame-shift
ENST00000505458	103534581	103534738	Frame-shift
ENST00000394820	103459014	103459113	In-frame
ENST00000505458	103459014	103459113	In-frame
ENST00000394820	103500037	103500196	In-frame
ENST00000505458	103500037	103500196	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
ENST00000394820	103446668	103446714	5CDS-5UTR
ENST00000394820	103455004	103455042	Frame-shift
ENST00000505458	103455004	103455042	Frame-shift
ENST00000394820	103527652	103527854	Frame-shift
ENST00000505458	103527652	103527854	Frame-shift
ENST00000394820	103528306	103528476	Frame-shift
ENST00000505458	103528306	103528476	Frame-shift
ENST00000394820	103534581	103534738	Frame-shift
ENST00000505458	103534581	103534738	Frame-shift
ENST00000394820	103459014	103459113	In-frame
ENST00000505458	103459014	103459113	In-frame
ENST00000394820	103500037	103500196	In-frame
ENST00000505458	103500037	103500196	In-frame

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Infer the effects of exon skipping event on protein functional features for NFKB1

Exon skipping at the protein sequence level and followed lost functional features.
* Click on the image to enlarge it in a new window.

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
ENST00000394820	3710	968	103459014	103459113	622	720	52	85
ENST00000505458	3724	968	103459014	103459113	434	532	52	85
ENST00000394820	3710	968	103500037	103500196	1034	1192	189	242
ENST00000505458	3724	968	103500037	103500196	846	1004	189	242

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
ENST00000394820	3710	968	103459014	103459113	622	720	52	85
ENST00000505458	3724	968	103459014	103459113	434	532	52	85
ENST00000394820	3710	968	103500037	103500196	1034	1192	189	242
ENST00000505458	3724	968	103500037	103500196	846	1004	189	242

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
P19838	52	85	1	180	Alternative sequence	ID=VSP_042869;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
P19838	52	85	1	180	Alternative sequence	ID=VSP_042869;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
P19838	52	85	52	54	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1SVC
P19838	52	85	52	54	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1SVC
P19838	52	85	83	88	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1SVC
P19838	52	85	83	88	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1SVC
P19838	52	85	1	968	Chain	ID=PRO_0000030310;Note=Nuclear factor NF-kappa-B p105 subunit
P19838	52	85	1	968	Chain	ID=PRO_0000030310;Note=Nuclear factor NF-kappa-B p105 subunit
P19838	52	85	1	433	Chain	ID=PRO_0000030311;Note=Nuclear factor NF-kappa-B p50 subunit
P19838	52	85	1	433	Chain	ID=PRO_0000030311;Note=Nuclear factor NF-kappa-B p50 subunit
P19838	52	85	42	367	Domain	Note=RHD;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00265
P19838	52	85	42	367	Domain	Note=RHD;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00265
P19838	52	85	60	62	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1SVC
P19838	52	85	60	62	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1SVC
P19838	52	85	61	61	Lipidation	Note=S-(15-deoxy-Delta12%2C14-prostaglandin J2-9-yl)cysteine%3B alternate;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:11466314;Dbxref=PMID:11466314
P19838	52	85	61	61	Lipidation	Note=S-(15-deoxy-Delta12%2C14-prostaglandin J2-9-yl)cysteine%3B alternate;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:11466314;Dbxref=PMID:11466314
P19838	52	85	61	61	Modified residue	Note=S-nitrosocysteine%3B alternate;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:8710491;Dbxref=PMID:8710491
P19838	52	85	61	61	Modified residue	Note=S-nitrosocysteine%3B alternate;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:8710491;Dbxref=PMID:8710491
P19838	52	85	61	61	Mutagenesis	Note=Suppresses S-nitrosylation-induced inhibition of DNA-binding activity. Loss of S-(15-deoxy-Delta12%2C14-prostaglandin J2-9-yl)cysteine-induced inhibition of DNA-binding activity. C->S;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:
P19838	52	85	61	61	Mutagenesis	Note=Suppresses S-nitrosylation-induced inhibition of DNA-binding activity. Loss of S-(15-deoxy-Delta12%2C14-prostaglandin J2-9-yl)cysteine-induced inhibition of DNA-binding activity. C->S;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:
P19838	189	242	181	189	Alternative sequence	ID=VSP_042870;Note=In isoform 3. EGGGDRQLG->MNGLCCMAL;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
P19838	189	242	181	189	Alternative sequence	ID=VSP_042870;Note=In isoform 3. EGGGDRQLG->MNGLCCMAL;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
P19838	189	242	211	221	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1SVC
P19838	189	242	211	221	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1SVC
P19838	189	242	223	225	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1SVC
P19838	189	242	223	225	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1SVC
P19838	189	242	227	230	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1SVC
P19838	189	242	227	230	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1SVC
P19838	189	242	234	240	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1SVC
P19838	189	242	234	240	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1SVC
P19838	189	242	1	968	Chain	ID=PRO_0000030310;Note=Nuclear factor NF-kappa-B p105 subunit
P19838	189	242	1	968	Chain	ID=PRO_0000030310;Note=Nuclear factor NF-kappa-B p105 subunit
P19838	189	242	1	433	Chain	ID=PRO_0000030311;Note=Nuclear factor NF-kappa-B p50 subunit
P19838	189	242	1	433	Chain	ID=PRO_0000030311;Note=Nuclear factor NF-kappa-B p50 subunit
P19838	189	242	42	367	Domain	Note=RHD;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00265
P19838	189	242	42	367	Domain	Note=RHD;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00265
P19838	189	242	190	204	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1SVC
P19838	189	242	190	204	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1SVC

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
P19838	52	85	1	180	Alternative sequence	ID=VSP_042869;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
P19838	52	85	1	180	Alternative sequence	ID=VSP_042869;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
P19838	52	85	52	54	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1SVC
P19838	52	85	52	54	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1SVC
P19838	52	85	83	88	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1SVC
P19838	52	85	83	88	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1SVC
P19838	52	85	1	968	Chain	ID=PRO_0000030310;Note=Nuclear factor NF-kappa-B p105 subunit
P19838	52	85	1	968	Chain	ID=PRO_0000030310;Note=Nuclear factor NF-kappa-B p105 subunit
P19838	52	85	1	433	Chain	ID=PRO_0000030311;Note=Nuclear factor NF-kappa-B p50 subunit
P19838	52	85	1	433	Chain	ID=PRO_0000030311;Note=Nuclear factor NF-kappa-B p50 subunit
P19838	52	85	42	367	Domain	Note=RHD;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00265
P19838	52	85	42	367	Domain	Note=RHD;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00265
P19838	52	85	60	62	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1SVC
P19838	52	85	60	62	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1SVC
P19838	52	85	61	61	Lipidation	Note=S-(15-deoxy-Delta12%2C14-prostaglandin J2-9-yl)cysteine%3B alternate;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:11466314;Dbxref=PMID:11466314
P19838	52	85	61	61	Lipidation	Note=S-(15-deoxy-Delta12%2C14-prostaglandin J2-9-yl)cysteine%3B alternate;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:11466314;Dbxref=PMID:11466314
P19838	52	85	61	61	Modified residue	Note=S-nitrosocysteine%3B alternate;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:8710491;Dbxref=PMID:8710491
P19838	52	85	61	61	Modified residue	Note=S-nitrosocysteine%3B alternate;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:8710491;Dbxref=PMID:8710491
P19838	52	85	61	61	Mutagenesis	Note=Suppresses S-nitrosylation-induced inhibition of DNA-binding activity. Loss of S-(15-deoxy-Delta12%2C14-prostaglandin J2-9-yl)cysteine-induced inhibition of DNA-binding activity. C->S;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:
P19838	52	85	61	61	Mutagenesis	Note=Suppresses S-nitrosylation-induced inhibition of DNA-binding activity. Loss of S-(15-deoxy-Delta12%2C14-prostaglandin J2-9-yl)cysteine-induced inhibition of DNA-binding activity. C->S;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:
P19838	189	242	181	189	Alternative sequence	ID=VSP_042870;Note=In isoform 3. EGGGDRQLG->MNGLCCMAL;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
P19838	189	242	181	189	Alternative sequence	ID=VSP_042870;Note=In isoform 3. EGGGDRQLG->MNGLCCMAL;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
P19838	189	242	211	221	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1SVC
P19838	189	242	211	221	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1SVC
P19838	189	242	223	225	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1SVC
P19838	189	242	223	225	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1SVC
P19838	189	242	227	230	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1SVC
P19838	189	242	227	230	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1SVC
P19838	189	242	234	240	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1SVC
P19838	189	242	234	240	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1SVC
P19838	189	242	1	968	Chain	ID=PRO_0000030310;Note=Nuclear factor NF-kappa-B p105 subunit
P19838	189	242	1	968	Chain	ID=PRO_0000030310;Note=Nuclear factor NF-kappa-B p105 subunit
P19838	189	242	1	433	Chain	ID=PRO_0000030311;Note=Nuclear factor NF-kappa-B p50 subunit
P19838	189	242	1	433	Chain	ID=PRO_0000030311;Note=Nuclear factor NF-kappa-B p50 subunit
P19838	189	242	42	367	Domain	Note=RHD;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00265
P19838	189	242	42	367	Domain	Note=RHD;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00265
P19838	189	242	190	204	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1SVC
P19838	189	242	190	204	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1SVC

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SNVs in the skipped exons for NFKB1

- Lollipop plot for presenting exon skipping associated SNVs.
* Click on the image to enlarge it in a new window.

- 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-G3-A3CJ-01	exon_skip_425352	103500038	103500196	103500044	103500044	Frame_Shift_Del	A	-	p.E193fs
LIHC	TCGA-DD-A3A0-01	exon_skip_425352	103500038	103500196	103500062	103500062	Frame_Shift_Del	A	-	p.Q199fs
LIHC	TCGA-DD-A1EG-01	exon_skip_425355	103527653	103527854	103527716	103527716	Frame_Shift_Del	G	-	p.G606fs
LIHC	TCGA-DD-A1EG-01	exon_skip_425358	103534582	103534738	103534608	103534608	Frame_Shift_Del	G	-	p.L873fs
CESC	TCGA-EA-A3HU-01	exon_skip_425358	103534582	103534738	103534740	103534741	Splice_Site	-	A	e22+2

- 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
HEC251_ENDOMETRIUM	103459015	103459113	103459024	103459024	Missense_Mutation	C	T	p.R56C
RKO_LARGE_INTESTINE	103459015	103459113	103459037	103459037	Missense_Mutation	T	C	p.V60A
BT474_BREAST	103500038	103500196	103500049	103500049	Missense_Mutation	G	C	p.E194Q
UMUC6_URINARY_TRACT	103500038	103500196	103500085	103500085	Missense_Mutation	G	A	p.E206K
KMOE2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	103527653	103527854	103527708	103527708	Missense_Mutation	T	G	p.L602R
NCIH1568_LUNG	103527653	103527854	103527722	103527722	Missense_Mutation	G	T	p.D607Y
LS411N_LARGE_INTESTINE	103527653	103527854	103527741	103527741	Missense_Mutation	G	A	p.R613H
SNUC5_LARGE_INTESTINE	103528307	103528476	103528384	103528384	Missense_Mutation	G	A	p.V677I
MN60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	103528307	103528476	103528412	103528412	Missense_Mutation	G	A	p.R686H
SNU81_LARGE_INTESTINE	103528307	103528476	103528456	103528456	Missense_Mutation	G	T	p.A701S
SNUC2A_LARGE_INTESTINE	103528307	103528476	103528468	103528468	Missense_Mutation	C	T	p.L705F
SNUC2B_LARGE_INTESTINE	103528307	103528476	103528468	103528468	Missense_Mutation	C	T	p.L705F
LMSU_STOMACH	103534582	103534738	103534643	103534643	Missense_Mutation	C	G	p.A884G
SNU1040_LARGE_INTESTINE	103534582	103534738	103534670	103534670	Missense_Mutation	G	A	p.S893N
PACADD137_PANCREAS	103534582	103534738	103534675	103534675	Missense_Mutation	G	A	p.V895M
GDM1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	103527653	103527854	103527654	103527654	Splice_Site	C	T	p.T584M
HEC59_ENDOMETRIUM	103528307	103528476	103528476	103528476	Splice_Site	G	T	p.E707D

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for NFKB1

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 NFKB1

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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for NFKB1

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RelatedDrugs for NFKB1

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
	P19838	DB08814	Triflusal	Nuclear factor NF-kappa-B p105 subunit	small molecule	approved\|investigational
	P19838	DB01041	Thalidomide	Nuclear factor NF-kappa-B p105 subunit	small molecule	approved\|investigational\|withdrawn

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RelatedDiseases for NFKB1

Diseases associated with this gene.
(DisGeNet 4.0)

Gene	Disease ID	Disease name	# pubmeds	Source
NFKB1	C0001973	Alcoholic Intoxication, Chronic	4	PSYGENET
NFKB1	C0009375	Colonic Neoplasms	2	CTD_human
NFKB1	C0001418	Adenocarcinoma	1	CTD_human
NFKB1	C0007621	Neoplastic Cell Transformation	1	CTD_human
NFKB1	C0007786	Brain Ischemia	1	CTD_human
NFKB1	C0011860	Diabetes Mellitus, Non-Insulin-Dependent	1	CTD_human
NFKB1	C0018843	Heat Stroke	1	CTD_human
NFKB1	C0020500	Hyperoxaluria	1	CTD_human
NFKB1	C0022661	Kidney Failure, Chronic	1	CTD_human
NFKB1	C0023892	Biliary cirrhosis	1	CTD_human
NFKB1	C0023895	Liver diseases	1	CTD_human
NFKB1	C0029927	Ovarian Cysts	1	CTD_human
NFKB1	C0525045	Mood Disorders	1	PSYGENET

	Gene summary
	Gene structures and expression levels
	Exon skipping events with PSIs in TCGA
	Exon skipping events with PSIs in GTEx
	Open reading frame (ORF) annotation in the exon skipping event
	Exon skipping events in the canonical protein sequence
	SNVs in the skipped exons with depth of coverage
	Splicing Quantitative Trait Loci (sQTLs) in the skipped exons
	Splicing Quantitative Trait Methylation (sQTM) in the skipped exon
	Related drugs with this gene
	Related diseases with this gene

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