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.

• not_specified (31 variants)
• not_provided (3 variants)

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. These statistics are base on transcript: NM_001376131.1. Only rare variants are included in the table.

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.

Effect	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous				3	1	4
missense			29		1	30
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	29	3	2

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