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Center for Computational Systems Medicine
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FusionGeneSummary

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FusionProtFeature

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FusionGeneSequence

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FusionGenePPI

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RelatedDrugs

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RelatedDiseases

Fusion gene ID: 24269

FusionGeneSummary for NFKB1_NFKB1

check button Fusion gene summary
Fusion gene informationFusion gene name: NFKB1_NFKB1
Fusion gene ID: 24269
HgeneTgene
Gene symbol

NFKB1

NFKB1

Gene ID

4790

4790

Gene namenuclear factor kappa B subunit 1nuclear factor kappa B subunit 1
SynonymsCVID12|EBP-1|KBF1|NF-kB1|NF-kappa-B|NF-kappaB|NFKB-p105|NFKB-p50|NFkappaB|p105|p50CVID12|EBP-1|KBF1|NF-kB1|NF-kappa-B|NF-kappaB|NFKB-p105|NFKB-p50|NFkappaB|p105|p50
Cytomap

4q24

4q24

Type of geneprotein-codingprotein-coding
Descriptionnuclear 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 1nuclear 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 date2018052720180527
UniProtAcc

P19838

P19838

Ensembl transtripts involved in fusion geneENST00000226574, ENST00000394820, 
ENST00000505458, ENST00000510638, 
ENST00000600343, 		ENST00000226574, 
ENST00000394820, ENST00000505458, 
ENST00000510638, ENST00000600343, 
Fusion gene scores* DoF score5 X 5 X 4=1002 X 2 X 2=8
# samples 63
** MAII scorelog2(6/100*10)=-0.736965594166206
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(3/8*10)=1.90689059560852
Context

PubMed: NFKB1 [Title/Abstract] AND NFKB1 [Title/Abstract] AND fusion [Title/Abstract]

Functional or gene categories assigned by FusionGDB annotation
* DoF score (Degree of Frequency) = # partners X # break points X # cancer types
** MAII score (Major Active Isofusion Index) = log2(# samples/DoF score*10)

check button Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez
PartnerGeneGO IDGO termPubMed ID
HgeneNFKB1

GO:0010629

negative regulation of gene expression

26687115

HgeneNFKB1

GO:0010956

negative regulation of calcidiol 1-monooxygenase activity

15243130

HgeneNFKB1

GO:0045893

positive regulation of transcription, DNA-templated

17426251

HgeneNFKB1

GO:0045944

positive regulation of transcription by RNA polymerase II

1406630

HgeneNFKB1

GO:1900127

positive regulation of hyaluronan biosynthetic process

17324121

TgeneNFKB1

GO:0010629

negative regulation of gene expression

26687115

TgeneNFKB1

GO:0010956

negative regulation of calcidiol 1-monooxygenase activity

15243130

TgeneNFKB1

GO:0045893

positive regulation of transcription, DNA-templated

17426251

TgeneNFKB1

GO:0045944

positive regulation of transcription by RNA polymerase II

1406630

TgeneNFKB1

GO:1900127

positive regulation of hyaluronan biosynthetic process

17324121


check button Fusion gene information from three resources
(ChiTars (NAR, 2018), tumorfusions (NAR, 2018), Gao et al. (Cell, 2018))
* All genome coordinats were lifted-over on hg19.
* Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser.
Data typeSourceCancer typeSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
ChiTaRS3.1CA311701NFKB1chr4

103538082

-NFKB1chr4

103537757

+
ChiTaRS3.1CA313276NFKB1chr4

103538082

-NFKB1chr4

103537757

+
* LD: Li Ding group's fusion gene list
  RV: Roel Verhaak group's fusion gene list
  ChiTaRs fusion database

check button Open reading frame (ORF) analsis of fusion genes based on Ensembl gene isoform structure.
* Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser.
ORFHenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrand
3UTR-3UTRENST00000226574ENST00000226574NFKB1chr4

103538082

-NFKB1chr4

103537757

+
3UTR-3UTRENST00000226574ENST00000394820NFKB1chr4

103538082

-NFKB1chr4

103537757

+
3UTR-3UTRENST00000226574ENST00000505458NFKB1chr4

103538082

-NFKB1chr4

103537757

+
3UTR-intronENST00000226574ENST00000510638NFKB1chr4

103538082

-NFKB1chr4

103537757

+
3UTR-3UTRENST00000226574ENST00000600343NFKB1chr4

103538082

-NFKB1chr4

103537757

+
intron-3UTRENST00000394820ENST00000226574NFKB1chr4

103538082

-NFKB1chr4

103537757

+
intron-3UTRENST00000394820ENST00000394820NFKB1chr4

103538082

-NFKB1chr4

103537757

+
intron-3UTRENST00000394820ENST00000505458NFKB1chr4

103538082

-NFKB1chr4

103537757

+
intron-intronENST00000394820ENST00000510638NFKB1chr4

103538082

-NFKB1chr4

103537757

+
intron-3UTRENST00000394820ENST00000600343NFKB1chr4

103538082

-NFKB1chr4

103537757

+
3UTR-3UTRENST00000505458ENST00000226574NFKB1chr4

103538082

-NFKB1chr4

103537757

+
3UTR-3UTRENST00000505458ENST00000394820NFKB1chr4

103538082

-NFKB1chr4

103537757

+
3UTR-3UTRENST00000505458ENST00000505458NFKB1chr4

103538082

-NFKB1chr4

103537757

+
3UTR-intronENST00000505458ENST00000510638NFKB1chr4

103538082

-NFKB1chr4

103537757

+
3UTR-3UTRENST00000505458ENST00000600343NFKB1chr4

103538082

-NFKB1chr4

103537757

+
intron-3UTRENST00000510638ENST00000226574NFKB1chr4

103538082

-NFKB1chr4

103537757

+
intron-3UTRENST00000510638ENST00000394820NFKB1chr4

103538082

-NFKB1chr4

103537757

+
intron-3UTRENST00000510638ENST00000505458NFKB1chr4

103538082

-NFKB1chr4

103537757

+
intron-intronENST00000510638ENST00000510638NFKB1chr4

103538082

-NFKB1chr4

103537757

+
intron-3UTRENST00000510638ENST00000600343NFKB1chr4

103538082

-NFKB1chr4

103537757

+
3UTR-3UTRENST00000600343ENST00000226574NFKB1chr4

103538082

-NFKB1chr4

103537757

+
3UTR-3UTRENST00000600343ENST00000394820NFKB1chr4

103538082

-NFKB1chr4

103537757

+
3UTR-3UTRENST00000600343ENST00000505458NFKB1chr4

103538082

-NFKB1chr4

103537757

+
3UTR-intronENST00000600343ENST00000510638NFKB1chr4

103538082

-NFKB1chr4

103537757

+
3UTR-3UTRENST00000600343ENST00000600343NFKB1chr4

103538082

-NFKB1chr4

103537757

+

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FusionProtFeatures for NFKB1_NFKB1


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
NFKB1

P19838

NFKB1

P19838

NF-kappa-B is a pleiotropic transcription factor presentin almost all cell types and is the endpoint of a series of signaltransduction events that are initiated by a vast array of stimulirelated to many biological processes such as inflammation,immunity, differentiation, cell growth, tumorigenesis andapoptosis. NF-kappa-B is a homo- or heterodimeric complex formedby the Rel-like domain-containing proteins RELA/p65, RELB,NFKB1/p105, NFKB1/p50, REL and NFKB2/p52 and the heterodimericp65-p50 complex appears to be most abundant one. The dimers bindat kappa-B sites in the DNA of their target genes and theindividual dimers have distinct preferences for different kappa-Bsites that they can bind with distinguishable affinity andspecificity. Different dimer combinations act as transcriptionalactivators or repressors, respectively. NF-kappa-B is controlledby various mechanisms of post-translational modification andsubcellular compartmentalization as well as by interactions withother cofactors or corepressors. NF-kappa-B complexes are held inthe cytoplasm in an inactive state complexed with members of theNF-kappa-B inhibitor (I-kappa-B) family. In a conventionalactivation pathway, I-kappa-B is phosphorylated by I-kappa-Bkinases (IKKs) in response to different activators, subsequentlydegraded thus liberating the active NF-kappa-B complex whichtranslocates to the nucleus. NF-kappa-B heterodimeric p65-p50 andRelB-p50 complexes are transcriptional activators. The NF-kappa-Bp50-p50 homodimer is a transcriptional repressor, but can act as atranscriptional activator when associated with BCL3. NFKB1 appearsto have dual functions such as cytoplasmic retention of attachedNF-kappa-B proteins by p105 and generation of p50 by acotranslational processing. The proteasome-mediated processensures the production of both p50 and p105 and preserves theirindependent function, although processing of NFKB1/p105 alsoappears to occur post-translationally. p50 binds to the kappa-Bconsensus sequence 5'-GGRNNYYCC-3', located in the enhancer regionof genes involved in immune response and acute phase reactions. Ina complex with MAP3K8, NFKB1/p105 represses MAP3K8-induced MAPKsignaling; active MAP3K8 is released by proteasome-dependentdegradation of NFKB1/p105. {ECO:0000269|PubMed:15485931}. NF-kappa-B is a pleiotropic transcription factor presentin almost all cell types and is the endpoint of a series of signaltransduction events that are initiated by a vast array of stimulirelated to many biological processes such as inflammation,immunity, differentiation, cell growth, tumorigenesis andapoptosis. NF-kappa-B is a homo- or heterodimeric complex formedby the Rel-like domain-containing proteins RELA/p65, RELB,NFKB1/p105, NFKB1/p50, REL and NFKB2/p52 and the heterodimericp65-p50 complex appears to be most abundant one. The dimers bindat kappa-B sites in the DNA of their target genes and theindividual dimers have distinct preferences for different kappa-Bsites that they can bind with distinguishable affinity andspecificity. Different dimer combinations act as transcriptionalactivators or repressors, respectively. NF-kappa-B is controlledby various mechanisms of post-translational modification andsubcellular compartmentalization as well as by interactions withother cofactors or corepressors. NF-kappa-B complexes are held inthe cytoplasm in an inactive state complexed with members of theNF-kappa-B inhibitor (I-kappa-B) family. In a conventionalactivation pathway, I-kappa-B is phosphorylated by I-kappa-Bkinases (IKKs) in response to different activators, subsequentlydegraded thus liberating the active NF-kappa-B complex whichtranslocates to the nucleus. NF-kappa-B heterodimeric p65-p50 andRelB-p50 complexes are transcriptional activators. The NF-kappa-Bp50-p50 homodimer is a transcriptional repressor, but can act as atranscriptional activator when associated with BCL3. NFKB1 appearsto have dual functions such as cytoplasmic retention of attachedNF-kappa-B proteins by p105 and generation of p50 by acotranslational processing. The proteasome-mediated processensures the production of both p50 and p105 and preserves theirindependent function, although processing of NFKB1/p105 alsoappears to occur post-translationally. p50 binds to the kappa-Bconsensus sequence 5'-GGRNNYYCC-3', located in the enhancer regionof genes involved in immune response and acute phase reactions. Ina complex with MAP3K8, NFKB1/p105 represses MAP3K8-induced MAPKsignaling; active MAP3K8 is released by proteasome-dependentdegradation of NFKB1/p105. {ECO:0000269|PubMed:15485931}.

check buttonRetention analysis result of each fusion partner protein across 39 protein features of UniProt such as six molecule processing features, 13 region features, four site features, six amino acid modification features, two natural variation features, five experimental info features, and 3 secondary structure features. Here, because of limited space for viewing, we only show the protein feature retention information belong to the 13 regional features. All retention annotation result can be downloaded at

download page

.

* Minus value of BPloci means that the break pointn is located before the CDS.
- In-frame and retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note


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FusionGeneSequence for NFKB1_NFKB1


check button For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences.
(nt: nucleotides, aa: amino acids)

* Fusion amino acid sequences.

* Fusion transcript sequences (only coding sequence (CDS) region).

* Fusion transcript sequences (Full-length transcript).

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FusionGenePPI for NFKB1_NFKB1


check button Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in

ChiPPI page

.

check button Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160)
HgeneHgene's interactorsTgeneTgene's interactors


check button - Retained PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenStill interaction with


check button - Lost PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


check button - Retained PPIs, but lost function due to frame-shift fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


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RelatedDrugs for NFKB1_NFKB1


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
HgeneNFKB1P19838DB01411PranlukastNuclear factor NF-kappa-B p105 subunitsmall moleculeapproved|investigational
HgeneNFKB1P19838DB08814TriflusalNuclear factor NF-kappa-B p105 subunitsmall moleculeapproved|investigational
HgeneNFKB1P19838DB01041ThalidomideNuclear factor NF-kappa-B p105 subunitsmall moleculeapproved|investigational|withdrawn
TgeneNFKB1P19838DB01411PranlukastNuclear factor NF-kappa-B p105 subunitsmall moleculeapproved|investigational
TgeneNFKB1P19838DB08814TriflusalNuclear factor NF-kappa-B p105 subunitsmall moleculeapproved|investigational
TgeneNFKB1P19838DB01041ThalidomideNuclear factor NF-kappa-B p105 subunitsmall moleculeapproved|investigational|withdrawn

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RelatedDiseases for NFKB1_NFKB1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneNFKB1C0001973Alcoholic Intoxication, Chronic4PSYGENET
HgeneNFKB1C0009375Colonic Neoplasms2CTD_human
HgeneNFKB1C0001418Adenocarcinoma1CTD_human
HgeneNFKB1C0007621Neoplastic Cell Transformation1CTD_human
HgeneNFKB1C0007786Brain Ischemia1CTD_human
HgeneNFKB1C0011860Diabetes Mellitus, Non-Insulin-Dependent1CTD_human
HgeneNFKB1C0018843Heat Stroke1CTD_human
HgeneNFKB1C0020500Hyperoxaluria1CTD_human
HgeneNFKB1C0022661Kidney Failure, Chronic1CTD_human
HgeneNFKB1C0023892Biliary cirrhosis1CTD_human
HgeneNFKB1C0023895Liver diseases1CTD_human
HgeneNFKB1C0029927Ovarian Cysts1CTD_human
HgeneNFKB1C0525045Mood Disorders1PSYGENET
TgeneNFKB1C0001973Alcoholic Intoxication, Chronic4PSYGENET
TgeneNFKB1C0009375Colonic Neoplasms2CTD_human
TgeneNFKB1C0001418Adenocarcinoma1CTD_human
TgeneNFKB1C0007621Neoplastic Cell Transformation1CTD_human
TgeneNFKB1C0007786Brain Ischemia1CTD_human
TgeneNFKB1C0011860Diabetes Mellitus, Non-Insulin-Dependent1CTD_human
TgeneNFKB1C0018843Heat Stroke1CTD_human
TgeneNFKB1C0020500Hyperoxaluria1CTD_human
TgeneNFKB1C0022661Kidney Failure, Chronic1CTD_human
TgeneNFKB1C0023892Biliary cirrhosis1CTD_human
TgeneNFKB1C0023895Liver diseases1CTD_human
TgeneNFKB1C0029927Ovarian Cysts1CTD_human
TgeneNFKB1C0525045Mood Disorders1PSYGENET