BTBD8

BTB domain containing 8, the group of BTB domain containing

Basic information

Region (hg38): 1:92080305-92184725

Previous symbols: [ "KIAA1107" ]

Links

ENSG00000189195 ∙ NCBI:284697 ∙ OMIM:617945 ∙ HGNC:21019 ∙ Uniprot:Q5XKL5 ∙ 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 BTBD8 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the BTBD8 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			14		1	15
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	14	2	2

Variants in BTBD8

This is a list of pathogenic ClinVar variants found in the BTBD8 region.

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

Position	Type	Phenotype	Significance	ClinVar
1-92080586-G-A		not specified	Likely benign (Sep 03, 2024)
1-92080588-A-G		not specified	Uncertain significance (Jun 21, 2023)
1-92080609-T-A		not specified	Uncertain significance (May 15, 2023)
1-92080645-T-G		not specified	Uncertain significance (Oct 26, 2021)
1-92080717-T-G		not specified	Uncertain significance (Apr 15, 2024)
1-92088769-C-T		not specified	Uncertain significance (Jul 13, 2021)
1-92088778-T-C		not specified	Uncertain significance (Feb 15, 2023)
1-92088783-A-G		not specified	Uncertain significance (Nov 11, 2024)
1-92102555-C-A		not specified	Uncertain significance (Dec 20, 2023)
1-92102564-C-G		not specified	Uncertain significance (Oct 08, 2024)
1-92102667-A-G		not specified	Uncertain significance (Jun 26, 2024)
1-92107884-A-T		not specified	Uncertain significance (Oct 10, 2023)
1-92107955-C-T		not specified	Uncertain significance (Apr 24, 2024)
1-92107964-G-A		not specified	Uncertain significance (Jan 23, 2024)
1-92129698-G-A		not specified	Uncertain significance (Jul 20, 2022)
1-92129728-T-C		not specified	Uncertain significance (Aug 11, 2024)
1-92129737-G-A		not specified	Uncertain significance (Jul 02, 2024)
1-92129767-C-G		not specified	Uncertain significance (Sep 30, 2024)
1-92139411-C-T		not specified	Uncertain significance (Aug 23, 2021)
1-92139421-C-G		not specified	Uncertain significance (Feb 27, 2023)
1-92141138-T-A		not specified	Uncertain significance (Jan 08, 2024)
1-92147222-A-G		not specified	Uncertain significance (Jan 31, 2024)
1-92147246-A-G		not specified	Uncertain significance (Sep 26, 2024)
1-92147696-G-A			Likely benign (Jan 01, 2023)
1-92147764-T-G		not specified	Uncertain significance (May 08, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
BTBD8	protein_coding	protein_coding	ENST00000342818	9	67532

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
6.08e-7	0.692	125708	0	36	125744	0.000143

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.440	174	191	0.910	0.00000866	2502
Missense in Polyphen		48	60.591	0.7922		841
Synonymous	1.27	52	65.1	0.799	0.00000313	675
Loss of Function	1.16	12	17.2	0.699	7.16e-7	250

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000581	0.000553
Ashkenazi Jewish	0.00	0.00
East Asian	0.000393	0.000381
Finnish	0.00	0.00
European (Non-Finnish)	0.000110	0.000105
Middle Eastern	0.000393	0.000381
South Asian	0.000176	0.000163
Other	0.00	0.00

dbNSFP

Source: dbNSFP

Recessive Scores

• pRec: 0.0118

Intolerance Scores

• loftool: 0.714
• rvis_EVS: 0.64
• rvis_percentile_EVS: 83.9

Haploinsufficiency Scores

• pHI: 0.000470
• hipred: N
• hipred_score: 0.146

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.462

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Btbd8

Gene ontology

• Cellular component: nucleoplasm