BTBD10

BTB domain containing 10, the group of BTB domain containing

Basic information

Region (hg38): 11:13388008-13463297

Links

ENSG00000148925 ∙ NCBI:84280 ∙ OMIM:615933 ∙ HGNC:21445 ∙ Uniprot:Q9BSF8 ∙ 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 BTBD10 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the BTBD10 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			16
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	0	0

Variants in BTBD10

This is a list of pathogenic ClinVar variants found in the BTBD10 region.

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

Position	Type	Phenotype	Significance	ClinVar
11-13388923-T-C		not specified	Uncertain significance (Jan 29, 2024)
11-13405682-T-C		not specified	Uncertain significance (Jan 23, 2024)
11-13413625-C-T		not specified	Uncertain significance (Nov 09, 2021)
11-13413626-G-A		not specified	Uncertain significance (Sep 17, 2021)
11-13419470-T-C		not specified	Uncertain significance (May 05, 2023)
11-13419523-T-A		not specified	Uncertain significance (Feb 28, 2024)
11-13419535-G-A		not specified	Uncertain significance (Apr 06, 2022)
11-13419550-G-A		not specified	Uncertain significance (Oct 06, 2022)
11-13419556-A-T		not specified	Uncertain significance (Apr 19, 2023)
11-13419656-T-G		not specified	Uncertain significance (Feb 21, 2024)
11-13421650-T-C		not specified	Uncertain significance (Dec 03, 2021)
11-13421659-G-C		not specified	Uncertain significance (Mar 07, 2024)
11-13421704-G-A		not specified	Uncertain significance (May 24, 2024)
11-13421806-T-C		not specified	Uncertain significance (Feb 28, 2024)
11-13445067-G-A		not specified	Uncertain significance (Dec 18, 2023)
11-13445090-G-C		not specified	Uncertain significance (Mar 21, 2024)
11-13445102-T-C		not specified	Uncertain significance (May 20, 2024)
11-13445103-A-C		not specified	Uncertain significance (Jan 30, 2024)
11-13445111-G-A		not specified	Uncertain significance (Dec 21, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
BTBD10	protein_coding	protein_coding	ENST00000278174	8	75297

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00295	0.997	125731	0	17	125748	0.0000676

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	2.65	150	273	0.549	0.0000147	3120
Missense in Polyphen		24	104.27	0.23016		1294
Synonymous	1.37	71	87.3	0.813	0.00000417	902
Loss of Function	3.05	9	25.7	0.351	0.00000180	278

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000182	0.000181
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.0000887	0.0000879
Middle Eastern	0.00	0.00
South Asian	0.0000984	0.0000980
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Plays a major role as an activator of AKT family members by inhibiting PPP2CA-mediated dephosphorylation, thereby keeping AKTs activated. Plays a role in preventing motor neuronal death and accelerating the growth of pancreatic beta cells. {ECO:0000250|UniProtKB:Q80X66}.

Recessive Scores

• pRec: 0.116

Intolerance Scores

• loftool: 0.330
• rvis_EVS: -0.23
• rvis_percentile_EVS: 37.11

Haploinsufficiency Scores

• pHI: 0.426
• hipred: Y
• hipred_score: 0.639
• ghis: 0.590

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.943

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Btbd10

Gene ontology

• Biological process: positive regulation of phosphorylation;type B pancreatic cell proliferation;negative regulation of neuron death
• Cellular component: fibrillar center;nucleus;cytoplasm