BTBD1

BTB domain containing 1, the group of BTB domain containing

Basic information

Region (hg38): 15:83016422-83067252

Links

ENSG00000064726 ∙ NCBI:53339 ∙ OMIM:608530 ∙ HGNC:1120 ∙ Uniprot:Q9H0C5 ∙ 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 BTBD1 gene.

• Inborn genetic diseases (17 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the BTBD1 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			16	1		17
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	16	1	0

Variants in BTBD1

This is a list of pathogenic ClinVar variants found in the BTBD1 region.

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

Position	Type	Phenotype	Significance	ClinVar
15-83018146-A-G		not specified	Uncertain significance (Oct 05, 2022)
15-83018709-T-G		not specified	Uncertain significance (Dec 21, 2022)
15-83018808-C-A		not specified	Uncertain significance (Feb 13, 2024)
15-83018825-A-G		not specified	Uncertain significance (Jan 24, 2023)
15-83020707-G-A		not specified	Uncertain significance (Jun 05, 2023)
15-83030232-C-T		not specified	Uncertain significance (Jul 30, 2023)
15-83030247-A-G		not specified	Uncertain significance (Dec 27, 2023)
15-83030289-A-C		not specified	Uncertain significance (Dec 13, 2023)
15-83030299-G-A		not specified	Uncertain significance (Jun 21, 2022)
15-83030313-C-T		not specified	Uncertain significance (Jan 04, 2022)
15-83041744-A-C		not specified	Uncertain significance (Dec 07, 2023)
15-83041757-G-T		not specified	Uncertain significance (Jun 09, 2022)
15-83041884-G-C		not specified	Uncertain significance (Dec 28, 2022)
15-83041904-T-G		not specified	Uncertain significance (Jul 06, 2021)
15-83050081-A-G		not specified	Uncertain significance (Jun 05, 2023)
15-83056462-G-A		not specified	Uncertain significance (Jan 30, 2024)
15-83066892-G-A		not specified	Uncertain significance (Dec 07, 2021)
15-83066907-G-A		not specified	Uncertain significance (Apr 13, 2022)
15-83067085-C-G		not specified	Uncertain significance (Jul 06, 2021)
15-83067093-G-A		not specified	Uncertain significance (Jul 25, 2023)
15-83067102-T-A		not specified	Uncertain significance (Jun 09, 2022)
15-83067112-A-G		not specified	Likely benign (Sep 12, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
BTBD1	protein_coding	protein_coding	ENST00000261721	8	50933

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.000119	0.991	125721	0	27	125748	0.000107

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.42	185	248	0.747	0.0000120	3101
Missense in Polyphen		57	94.931	0.60044		1199
Synonymous	0.759	83	92.3	0.899	0.00000440	987
Loss of Function	2.30	10	21.5	0.465	0.00000136	240

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000245	0.000242
Ashkenazi Jewish	0.0000992	0.0000992
East Asian	0.000218	0.000217
Finnish	0.00	0.00
European (Non-Finnish)	0.0000881	0.0000879
Middle Eastern	0.000218	0.000217
South Asian	0.000185	0.000163
Other	0.000372	0.000326

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Probable substrate-specific adapter of an E3 ubiquitin- protein ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins (PubMed:14528312). Seems to regulate expression levels and/or subnuclear distribution of TOP1, via an unknown mechanism (By similarity). May play a role in mesenchymal differentiation where it promotes myogenic differentiation and suppresses adipogenesis (By similarity). {ECO:0000250|UniProtKB:P58544, ECO:0000269|PubMed:14528312}.
• 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: 0.111

Intolerance Scores

• loftool: 0.819
• rvis_EVS: -0.16
• rvis_percentile_EVS: 41.64

Haploinsufficiency Scores

• pHI: 0.222
• hipred: Y
• hipred_score: 0.736
• ghis: 0.602

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.995

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Btbd1

Gene ontology

• Biological process: muscle organ development;protein ubiquitination;neurogenesis;regulation of protein binding;post-translational protein modification
• Cellular component: P-body;cytosol;protein-containing complex
• Molecular function: protein binding