KBTBD8

kelch repeat and BTB domain containing 8, the group of BTB domain containing

Basic information

Region (hg38): 3:66998307-67011210

Links

ENSG00000163376 ∙ NCBI:84541 ∙ OMIM:616607 ∙ HGNC:30691 ∙ Uniprot:Q8NFY9 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

• Tourette syndrome (No Known Disease Relationship), mode of inheritance: Unknown

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the KBTBD8 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the KBTBD8 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			27			27
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	27	0	0

Variants in KBTBD8

This is a list of pathogenic ClinVar variants found in the KBTBD8 region.

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

Position	Type	Phenotype	Significance	ClinVar
3-66998365-T-G		not specified	Uncertain significance (Aug 30, 2022)
3-66999015-T-G		not specified	Uncertain significance (Feb 02, 2024)
3-66999034-A-G		not specified	Uncertain significance (Apr 23, 2024)
3-66999052-T-C		not specified	Uncertain significance (Mar 01, 2023)
3-66999085-A-G		not specified	Uncertain significance (Dec 28, 2023)
3-67003299-C-T		not specified	Uncertain significance (Jun 05, 2024)
3-67003343-G-T		not specified	Uncertain significance (Jan 06, 2023)
3-67003396-G-C		not specified	Uncertain significance (Aug 21, 2023)
3-67003425-T-C		not specified	Uncertain significance (Jul 19, 2023)
3-67003494-G-A		not specified	Uncertain significance (May 03, 2023)
3-67003505-C-G		not specified	Uncertain significance (Jan 10, 2023)
3-67003668-A-C		not specified	Uncertain significance (Feb 21, 2024)
3-67003691-T-C		not specified	Uncertain significance (May 02, 2024)
3-67003703-G-A		not specified	Uncertain significance (Mar 08, 2024)
3-67003752-C-G		not specified	Uncertain significance (Dec 16, 2023)
3-67003764-T-C		not specified	Uncertain significance (Dec 21, 2023)
3-67003899-C-T		not specified	Uncertain significance (Aug 28, 2023)
3-67003937-C-G		not specified	Uncertain significance (Dec 21, 2022)
3-67003980-A-G		not specified	Uncertain significance (Sep 22, 2022)
3-67004007-G-T		not specified	Uncertain significance (Jan 26, 2022)
3-67004039-A-T		not specified	Uncertain significance (Jun 16, 2024)
3-67004157-G-A		not specified	Uncertain significance (Mar 21, 2022)
3-67004226-G-A		not specified	Uncertain significance (Dec 19, 2023)
3-67004231-A-T		not specified	Uncertain significance (Feb 22, 2023)
3-67007927-T-C		not specified	Uncertain significance (Apr 26, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
KBTBD8	protein_coding	protein_coding	ENST00000417314	4	12908

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00000947	0.986	125714	0	34	125748	0.000135

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.25	258	321	0.803	0.0000166	4003
Missense in Polyphen		64	102.4	0.62502		1234
Synonymous	0.295	106	110	0.964	0.00000575	1110
Loss of Function	2.21	12	23.6	0.509	0.00000138	285

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000268	0.000268
Ashkenazi Jewish	0.00	0.00
East Asian	0.000115	0.000109
Finnish	0.0000926	0.0000924
European (Non-Finnish)	0.000159	0.000158
Middle Eastern	0.000115	0.000109
South Asian	0.0000980	0.0000980
Other	0.000327	0.000326

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Substrate-specific adapter of a BCR (BTB-CUL3-RBX1) E3 ubiquitin ligase complex that acts as a regulator of neural crest specification (PubMed:26399832). The BCR(KBTBD8) complex acts by mediating monoubiquitination of NOLC1 and TCOF1: monoubiquitination promotes the formation of a NOLC1-TCOF1 complex that acts as a platform to connect RNA polymerase I with enzymes responsible for ribosomal processing and modification, leading to remodel the translational program of differentiating cells in favor of neural crest specification (PubMed:26399832). {ECO:0000269|PubMed:26399832}.
• Pathway: Post-translational protein modification;Metabolism of proteins;Immune System;Adaptive Immune System;Antigen processing: Ubiquitination & Proteasome degradation;Class I MHC mediated antigen processing & presentation;Neddylation (Consensus)

Recessive Scores

• pRec: 0.0996

Intolerance Scores

• loftool: 0.633
• rvis_EVS: 0.06
• rvis_percentile_EVS: 58.85

Haploinsufficiency Scores

• pHI: 0.198
• hipred: N
• hipred_score: 0.237
• ghis: 0.519

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.194

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Kbtbd8

Gene ontology

• Biological process: regulation of translation;protein monoubiquitination;neural crest formation;neural crest cell development;post-translational protein modification
• Cellular component: Golgi apparatus;spindle;cytosol;Cul3-RING ubiquitin ligase complex
• Molecular function: protein binding