NFKBIE

NFKB inhibitor epsilon, the group of Ankyrin repeat domain containing

Basic information

Region (hg38): 6:44258165-44265788

Links

ENSG00000146232 ∙ NCBI:4794 ∙ OMIM:604548 ∙ HGNC:7799 ∙ Uniprot:O00221 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the NFKBIE gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the NFKBIE gene is commonly pathogenic or not.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous					1	1
missense			20	1	1	22
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding			1			1
Total	0	0	21	1	2

Variants in NFKBIE

This is a list of pathogenic ClinVar variants found in the NFKBIE region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
6-44260257-A-G		not specified	Uncertain significance (Mar 23, 2022)
6-44261686-G-A		not specified	Uncertain significance (Oct 18, 2021)
6-44261730-C-T		not specified	Uncertain significance (Sep 01, 2021)
6-44261761-G-A		not specified	Uncertain significance (Nov 09, 2023)
6-44261775-C-G		not specified	Uncertain significance (Sep 29, 2023)
6-44261814-G-A		not specified	Uncertain significance (Apr 15, 2024)
6-44264996-G-A			Benign (Jul 06, 2018)
6-44265001-TGTAA-T		Neoplasm	- (-)
6-44265087-C-A		not specified	Uncertain significance (Dec 05, 2022)
6-44265093-A-G		not specified	Uncertain significance (Jun 30, 2023)
6-44265152-A-T		not specified	Uncertain significance (Jan 23, 2023)
6-44265179-C-A		not specified	Uncertain significance (Jan 16, 2024)
6-44265336-G-A		not specified	Uncertain significance (May 27, 2022)
6-44265358-T-C		not specified	Likely benign (Dec 17, 2023)
6-44265373-C-G		not specified	Uncertain significance (May 22, 2023)
6-44265399-C-T		not specified	Uncertain significance (Jan 23, 2023)
6-44265400-T-G		not specified	Uncertain significance (Sep 15, 2021)
6-44265414-T-A		not specified	Uncertain significance (Sep 29, 2023)
6-44265498-G-A		not specified	Uncertain significance (Jun 03, 2022)
6-44265526-C-G		not specified	Uncertain significance (Jun 18, 2024)
6-44265562-G-A		not specified	Uncertain significance (Nov 10, 2022)
6-44265613-G-C		not specified	Uncertain significance (Jun 24, 2022)
6-44265624-C-T		not specified	Uncertain significance (Sep 06, 2022)
6-44265654-C-G		not specified	Uncertain significance (Sep 14, 2021)
6-44265666-G-A			Benign (Jan 01, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
NFKBIE	protein_coding	protein_coding	ENST00000275015	6	7598

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.771	0.229	125620	0	1	125621	0.00000398

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.47	213	282	0.754	0.0000148	3066
Missense in Polyphen		46	87.502	0.5257		946
Synonymous	-0.970	144	130	1.11	0.00000666	1170
Loss of Function	3.28	3	18.0	0.166	7.90e-7	190

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00	0.00
Ashkenazi Jewish	0.0000993	0.0000993
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.00	0.00
Middle Eastern	0.00	0.00
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Inhibits NF-kappa-B by complexing with and trapping it in the cytoplasm. Inhibits DNA-binding of NF-kappa-B p50-p65 and p50-c-Rel complexes. {ECO:0000269|PubMed:9315679}.
• Pathway: Adipocytokine signaling pathway - Homo sapiens (human);T cell receptor signaling pathway - Homo sapiens (human);B cell receptor signaling pathway - Homo sapiens (human);Neurotrophin signaling pathway - Homo sapiens (human);Th17 cell differentiation - Homo sapiens (human);Th1 and Th2 cell differentiation - Homo sapiens (human);Epstein-Barr virus infection - Homo sapiens (human);TNF alpha Signaling Pathway;Apoptosis;Apoptotic Signaling Pathway;Oxidative Damage;TLR NFkB;B cell receptor signaling;Activation of NF-kappaB in B cells;Signaling by the B Cell Receptor (BCR);Immune System;Adaptive Immune System;Downstream signaling events of B Cell Receptor (BCR);IL-1 NFkB;TNFalpha;TNF;CD4 T cell receptor signaling-NFkB cascade;CD4 T cell receptor signaling (Consensus)

Recessive Scores

• pRec: 0.164

Haploinsufficiency Scores

• pHI: 0.139
• hipred: Y
• hipred_score: 0.594
• ghis: 0.412

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.896

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium

Mouse Genome Informatics

• Gene name: Nfkbie
• Phenotype: cellular phenotype; mortality/aging (the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span); hematopoietic system phenotype; immune system phenotype

Gene ontology

• Biological process: D-serine transport;cytoplasmic sequestering of transcription factor
• Cellular component: fibrillar center;nucleus;cytoplasm;Golgi apparatus;cytosol;perinuclear region of cytoplasm
• Molecular function: protein binding