KBTBD3

kelch repeat and BTB domain containing 3, the group of BTB domain containing

Basic information

Region (hg38): 11:106051098-106077459

Previous symbols: [ "BKLHD3" ]

Links

ENSG00000182359 ∙ NCBI:143879 ∙ ∙ HGNC:22934 ∙ Uniprot:Q8NAB2 ∙ 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 KBTBD3 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the KBTBD3 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						0
missense			31			31
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region				1		1
non coding						0
Total	0	0	31	0	0

Variants in KBTBD3

This is a list of pathogenic ClinVar variants found in the KBTBD3 region.

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

Position	Type	Phenotype	Significance	ClinVar
11-106052962-C-T		not specified	Uncertain significance (Aug 30, 2021)
11-106053043-A-T		not specified	Uncertain significance (Jan 23, 2023)
11-106053179-C-T		not specified	Uncertain significance (Mar 28, 2023)
11-106053250-T-C		not specified	Uncertain significance (May 04, 2022)
11-106053317-C-T		not specified	Uncertain significance (Mar 04, 2024)
11-106053404-G-A		not specified	Uncertain significance (Mar 25, 2024)
11-106053407-T-G		not specified	Uncertain significance (Sep 08, 2024)
11-106053414-T-G		not specified	Uncertain significance (Oct 03, 2022)
11-106053421-T-C		not specified	Uncertain significance (Feb 27, 2024)
11-106053423-T-A		not specified	Uncertain significance (Jul 06, 2021)
11-106053443-G-A		not specified	Uncertain significance (Jun 18, 2024)
11-106053537-G-T		not specified	Uncertain significance (Jul 02, 2024)
11-106053601-G-A		not specified	Uncertain significance (Oct 05, 2021)
11-106053613-C-T		not specified	Uncertain significance (Aug 12, 2021)
11-106053636-T-G		not specified	Uncertain significance (May 06, 2024)
11-106053652-A-G		not specified	Uncertain significance (Dec 05, 2022)
11-106053654-G-C		not specified	Uncertain significance (Nov 08, 2022)
11-106053693-C-A		not specified	Uncertain significance (Oct 25, 2023)
11-106053701-T-A		not specified	Uncertain significance (Dec 19, 2022)
11-106053743-T-C		not specified	Uncertain significance (Aug 09, 2021)
11-106053823-C-T		not specified	Uncertain significance (Aug 01, 2024)
11-106053866-T-C		not specified	Uncertain significance (Nov 08, 2022)
11-106054016-G-A		not specified	Uncertain significance (Dec 12, 2023)
11-106054115-C-G		not specified	Uncertain significance (Apr 21, 2022)
11-106054142-A-C		not specified	Uncertain significance (Jan 09, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
KBTBD3	protein_coding	protein_coding	ENST00000526793	2	26668

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00000557	0.971	125683	0	56	125739	0.000223

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.842	269	311	0.866	0.0000145	4060
Missense in Polyphen		101	114.2	0.88439		1451
Synonymous	0.285	110	114	0.966	0.00000559	1116
Loss of Function	2.01	12	22.2	0.541	0.00000122	304

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000841	0.000779
Ashkenazi Jewish	0.00	0.00
East Asian	0.000163	0.000163
Finnish	0.000139	0.000139
European (Non-Finnish)	0.000229	0.000220
Middle Eastern	0.000163	0.000163
South Asian	0.0000981	0.0000980
Other	0.000726	0.000652

dbNSFP

Source: dbNSFP

Recessive Scores

• pRec: 0.127

Intolerance Scores

• loftool: 0.854
• rvis_EVS: -0.38
• rvis_percentile_EVS: 27.88

Haploinsufficiency Scores

• pHI: 0.205
• hipred: N
• hipred_score: 0.350
• ghis: 0.578

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.711

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Kbtbd3