KBTBD11

kelch repeat and BTB domain containing 11, the group of BTB domain containing

Basic information

Region (hg38): 8:1973677-2006936

Links

ENSG00000176595 ∙ NCBI:9920 ∙ OMIM:618794 ∙ HGNC:29104 ∙ Uniprot:O94819 ∙ 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 KBTBD11 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the KBTBD11 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			70	2		72
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	70	2	0

Variants in KBTBD11

This is a list of pathogenic ClinVar variants found in the KBTBD11 region.

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

Position	Type	Phenotype	Significance	ClinVar
8-2001221-T-C		not specified	Uncertain significance (Dec 28, 2022)
8-2001280-C-G		not specified	Uncertain significance (Dec 14, 2021)
8-2001292-C-A		not specified	Uncertain significance (Apr 17, 2023)
8-2001311-C-T		not specified	Uncertain significance (Jun 24, 2022)
8-2001323-G-A		not specified	Uncertain significance (Apr 15, 2024)
8-2001386-C-T		not specified	Uncertain significance (Oct 04, 2022)
8-2001404-C-G		not specified	Uncertain significance (Nov 17, 2022)
8-2001415-G-A		not specified	Uncertain significance (Feb 05, 2024)
8-2001423-G-C		not specified	Uncertain significance (Sep 06, 2022)
8-2001431-C-T		not specified	Likely benign (Jul 27, 2022)
8-2001470-C-T		not specified	Uncertain significance (Jul 09, 2021)
8-2001532-C-T		not specified	Uncertain significance (Feb 23, 2023)
8-2001545-C-T		not specified	Uncertain significance (May 27, 2022)
8-2001580-C-T		not specified	Uncertain significance (Dec 03, 2021)
8-2001581-C-T		not specified	Uncertain significance (Sep 27, 2021)
8-2001598-G-A		not specified	Uncertain significance (Oct 27, 2023)
8-2001631-T-C		not specified	Uncertain significance (Jun 29, 2023)
8-2001632-C-G		not specified	Uncertain significance (Oct 06, 2021)
8-2001635-G-C		not specified	Uncertain significance (Jan 10, 2023)
8-2001772-G-A		not specified	Uncertain significance (Oct 13, 2023)
8-2001775-C-T		not specified	Uncertain significance (Aug 19, 2021)
8-2001791-G-A		not specified	Uncertain significance (May 15, 2024)
8-2001811-G-T		not specified	Uncertain significance (Oct 19, 2021)
8-2001854-A-C		not specified	Uncertain significance (Dec 03, 2021)
8-2001863-C-T		not specified	Uncertain significance (Oct 29, 2021)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
KBTBD11	protein_coding	protein_coding	ENST00000320248	1	33059

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0624	0.876	0	0	0	0	0.00

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.507	171	191	0.897	0.0000121	3731
Missense in Polyphen		57	77.079	0.7395		1310
Synonymous	-2.60	125	93.1	1.34	0.00000678	1384
Loss of Function	1.57	3	7.71	0.389	3.88e-7	135

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00	0.00
Ashkenazi Jewish	0.00	0.00
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

Haploinsufficiency Scores

• pHI: 0.160
• hipred: N
• hipred_score: 0.324
• ghis: 0.409

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.281

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Kbtbd11