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

ENSG00000182359NCBI:143879HGNC:22934Uniprot:Q8NAB2AlphaFoldGenCCjaxSfariGnomADPubmedClinVar

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
clinvar
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)2247189
11-106053043-A-T not specified Uncertain significance (Jan 23, 2023)2477688
11-106053179-C-T not specified Uncertain significance (Mar 28, 2023)2530572
11-106053250-T-C not specified Uncertain significance (May 04, 2022)2349858
11-106053317-C-T not specified Uncertain significance (Mar 04, 2024)3112961
11-106053404-G-A not specified Uncertain significance (Mar 25, 2024)3287465
11-106053407-T-G not specified Uncertain significance (Oct 29, 2021)2371582
11-106053414-T-G not specified Uncertain significance (Oct 03, 2022)2315954
11-106053421-T-C not specified Uncertain significance (Feb 27, 2024)3112960
11-106053423-T-A not specified Uncertain significance (Jul 06, 2021)2390907
11-106053443-G-A not specified Uncertain significance (Jun 18, 2024)3287464
11-106053601-G-A not specified Uncertain significance (Oct 05, 2021)2253022
11-106053613-C-T not specified Uncertain significance (Aug 12, 2021)2243456
11-106053636-T-G not specified Uncertain significance (May 06, 2024)3287466
11-106053652-A-G not specified Uncertain significance (Dec 05, 2022)2341055
11-106053654-G-C not specified Uncertain significance (Nov 08, 2022)2394415
11-106053693-C-A not specified Uncertain significance (Oct 25, 2023)3112968
11-106053701-T-A not specified Uncertain significance (Dec 19, 2022)2336636
11-106053743-T-C not specified Uncertain significance (Aug 09, 2021)2277490
11-106053866-T-C not specified Uncertain significance (Nov 08, 2022)2323927
11-106054016-G-A not specified Uncertain significance (Dec 12, 2023)3112967
11-106054115-C-G not specified Uncertain significance (Apr 21, 2022)2405064
11-106054142-A-C not specified Uncertain significance (Jan 09, 2024)3112966
11-106054153-T-A not specified Uncertain significance (Mar 24, 2023)2529559
11-106054165-T-C not specified Uncertain significance (May 17, 2023)2547033

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
KBTBD3protein_codingprotein_codingENST00000526793 226668
pLI Probability
LOF Intolerant
pRec Probability
LOF Recessive
Individuals with
no LOFs
Individuals with
Homozygous LOFs
Individuals with
Heterozygous LOFs
Defined p
0.000005570.9711256830561257390.000223
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense0.8422693110.8660.00001454060
Missense in Polyphen101114.20.884391451
Synonymous0.2851101140.9660.000005591116
Loss of Function2.011222.20.5410.00000122304

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.0008410.000779
Ashkenazi Jewish0.000.00
East Asian0.0001630.000163
Finnish0.0001390.000139
European (Non-Finnish)0.0002290.000220
Middle Eastern0.0001630.000163
South Asian0.00009810.0000980
Other0.0007260.000652

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

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium

Mouse Genome Informatics

Gene name
Kbtbd3
Phenotype