TBKBP1

TBK1 binding protein 1

Basic information

Region (hg38): 17:47694161-47712052

Links

ENSG00000198933 ∙ NCBI:9755 ∙ OMIM:608476 ∙ HGNC:30140 ∙ Uniprot:A7MCY6 ∙ 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 TBKBP1 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the TBKBP1 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				2	1	3
missense			38	3		41
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	38	5	2

Variants in TBKBP1

This is a list of pathogenic ClinVar variants found in the TBKBP1 region.

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

Position	Type	Phenotype	Significance	ClinVar
17-47696124-G-A		not specified	Uncertain significance (Sep 01, 2021)
17-47696133-C-G		not specified	Uncertain significance (Nov 18, 2023)
17-47696221-T-A		not specified	Uncertain significance (Sep 01, 2021)
17-47696329-G-C		not specified	Uncertain significance (Mar 24, 2023)
17-47696727-A-T		not specified	Uncertain significance (May 02, 2023)
17-47696785-G-A			Benign (Aug 14, 2017)
17-47698619-C-T		not specified	Uncertain significance (Dec 27, 2022)
17-47698650-G-T		not specified	Uncertain significance (Oct 03, 2023)
17-47698708-C-T			Likely benign (Jul 01, 2022)
17-47698734-T-C		not specified	Uncertain significance (Mar 20, 2024)
17-47698785-C-T			Benign (Dec 31, 2019)
17-47699334-T-C		not specified	Likely benign (Oct 29, 2021)
17-47699368-G-A		not specified	Uncertain significance (Apr 25, 2023)
17-47699407-G-A		not specified	Uncertain significance (Aug 17, 2021)
17-47699655-C-T		not specified	Uncertain significance (Mar 20, 2023)
17-47699661-G-A		not specified	Uncertain significance (Jul 13, 2021)
17-47708418-C-T			Likely benign (Aug 01, 2022)
17-47708446-C-G		not specified	Uncertain significance (Jan 24, 2024)
17-47708492-A-G		not specified	Uncertain significance (May 25, 2022)
17-47708496-A-C		not specified	Uncertain significance (Feb 28, 2023)
17-47708818-C-T		not specified	Uncertain significance (May 02, 2024)
17-47708845-G-T		not specified	Uncertain significance (Jan 02, 2024)
17-47708911-C-T		not specified	Uncertain significance (Feb 05, 2024)
17-47708916-G-A		not specified	Uncertain significance (Jan 03, 2024)
17-47708937-G-T		not specified	Uncertain significance (Mar 25, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
TBKBP1	protein_coding	protein_coding	ENST00000361722	9	17970

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.270	0.730	124628	0	19	124647	0.0000762

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.16	243	299	0.812	0.0000200	3841
Missense in Polyphen		67	90.719	0.73854		978
Synonymous	0.913	123	137	0.901	0.00000971	1273
Loss of Function	3.56	6	25.4	0.237	0.00000135	298

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000290	0.0000290
Ashkenazi Jewish	0.00	0.00
East Asian	0.000111	0.000111
Finnish	0.0000933	0.0000928
European (Non-Finnish)	0.0000535	0.0000531
Middle Eastern	0.000111	0.000111
South Asian	0.000264	0.000261
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Adapter protein which constitutively binds TBK1 and IKBKE playing a role in antiviral innate immunity. {ECO:0000269|PubMed:21931631}.
• Pathway: RIG-I-like receptor signaling pathway - Homo sapiens (human);RIG-I-like Receptor Signaling;TNFalpha (Consensus)

Recessive Scores

• pRec: 0.131

Haploinsufficiency Scores

• pHI: 0.512
• hipred: Y
• hipred_score: 0.694
• ghis: 0.545

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.492

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Tbkbp1
• Phenotype: hematopoietic system phenotype; immune system phenotype

Gene ontology

• Biological process: viral process;innate immune response
• Molecular function: protein binding