BTBD16

BTB domain containing 16, the group of BTB domain containing

Basic information

Region (hg38): 10:122271295-122338159

Previous symbols: [ "C10orf87" ]

Links

ENSG00000138152 ∙ NCBI:118663 ∙ ∙ HGNC:26340 ∙ Uniprot:Q32M84 ∙ 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 BTBD16 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the BTBD16 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			30	5		35
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	30	5	0

Variants in BTBD16

This is a list of pathogenic ClinVar variants found in the BTBD16 region.

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

Position	Type	Phenotype	Significance	ClinVar
10-122275098-C-T		not specified	Likely benign (Sep 22, 2023)
10-122276809-C-T		not specified	Uncertain significance (Dec 27, 2022)
10-122276833-C-T		not specified	Uncertain significance (Sep 14, 2021)
10-122276854-C-T		Malignant tumor of prostate	Uncertain significance (-)
10-122276876-C-T		not specified	Uncertain significance (Oct 06, 2021)
10-122283883-T-C		not specified	Likely benign (May 01, 2024)
10-122286126-G-A		not specified	Uncertain significance (Aug 15, 2023)
10-122286171-C-T		not specified	Uncertain significance (Oct 27, 2021)
10-122286212-A-C		not specified	Uncertain significance (Jun 16, 2024)
10-122286218-C-T		not specified	Uncertain significance (Feb 05, 2024)
10-122289930-A-G		not specified	Uncertain significance (Apr 10, 2023)
10-122289974-A-G		not specified	Uncertain significance (Feb 11, 2022)
10-122291085-G-A		not specified	Uncertain significance (Nov 19, 2022)
10-122291089-C-T		not specified	Uncertain significance (Dec 16, 2023)
10-122291103-C-T		not specified	Uncertain significance (May 18, 2022)
10-122291113-G-A		not specified	Uncertain significance (Dec 22, 2023)
10-122291184-C-G		not specified	Uncertain significance (Nov 07, 2022)
10-122297788-C-A		not specified	Uncertain significance (Mar 14, 2024)
10-122297829-G-A		not specified	Uncertain significance (Oct 04, 2022)
10-122299020-T-C		not specified	Uncertain significance (Sep 14, 2023)
10-122299025-A-G		not specified	Uncertain significance (May 25, 2022)
10-122299028-G-C		not specified	Uncertain significance (May 14, 2024)
10-122299068-G-A		not specified	Uncertain significance (Jan 23, 2023)
10-122329533-C-T		not specified	Uncertain significance (Jul 06, 2022)
10-122331256-G-A		not specified	Uncertain significance (May 09, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
BTBD16	protein_coding	protein_coding	ENST00000260723	15	66857

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
3.56e-17	0.0194	125597	0	151	125748	0.000601

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.356	265	282	0.940	0.0000157	3321
Missense in Polyphen		87	93.298	0.93249		1149
Synonymous	-1.30	130	113	1.16	0.00000665	927
Loss of Function	0.488	27	29.9	0.904	0.00000144	349

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00103	0.00102
Ashkenazi Jewish	0.000298	0.000298
East Asian	0.000608	0.000598
Finnish	0.000140	0.000139
European (Non-Finnish)	0.000930	0.000888
Middle Eastern	0.000608	0.000598
South Asian	0.000238	0.000229
Other	0.000499	0.000489

dbNSFP

Source: dbNSFP

Recessive Scores

• pRec: 0.0696

Intolerance Scores

• loftool: 0.922
• rvis_EVS: 0.6
• rvis_percentile_EVS: 82.9

Haploinsufficiency Scores

• pHI: 0.0677
• hipred: N
• hipred_score: 0.123
• ghis: 0.425

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.0377

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Btbd16
• Phenotype: hematopoietic system phenotype; integument phenotype (the observable morphological and physiological characteristics of the skin and its associated structures, such as the hair, nails, sweat glands, sebaceous glands and other secretory glands that are manifested through development and lifespan); immune system phenotype; behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan)