BTBD17

BTB domain containing 17, the group of BTB domain containing

Basic information

Region (hg38): 17:74356416-74361868

Links

ENSG00000204347 ∙ NCBI:388419 ∙ ∙ HGNC:33758 ∙ Uniprot:A6NE02 ∙ 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 BTBD17 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the BTBD17 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				46		46
missense			39	3		42
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	39	49	0

Variants in BTBD17

This is a list of pathogenic ClinVar variants found in the BTBD17 region.

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

Position	Type	Phenotype	Significance	ClinVar
17-74356675-A-G			Likely benign (Jun 01, 2024)
17-74356684-G-A			Likely benign (Jun 01, 2024)
17-74356687-T-G			Likely benign (Jun 01, 2024)
17-74356689-C-T		not specified	Uncertain significance (Sep 27, 2022)
17-74356699-G-A			Likely benign (Jun 01, 2024)
17-74356708-C-G			Likely benign (Jun 01, 2024)
17-74356711-G-A			Likely benign (Jun 01, 2024)
17-74356713-G-T		not specified	Uncertain significance (Feb 05, 2024)
17-74356720-G-A			Likely benign (Jun 01, 2024)
17-74356777-G-A			Likely benign (Jun 01, 2024)
17-74356834-C-G		not specified	Likely benign (Jan 03, 2024)
17-74356837-C-G		not specified	Uncertain significance (Jul 28, 2021)
17-74356845-C-T		not specified	Uncertain significance (Jan 18, 2025)
17-74356858-C-G			Likely benign (Jun 01, 2024)
17-74356887-C-T		not specified	Uncertain significance (Jan 02, 2024)
17-74356909-C-G			Likely benign (Jun 01, 2024)
17-74356921-C-G			Likely benign (Jun 01, 2024)
17-74356924-T-C			Likely benign (Jun 01, 2024)
17-74356929-C-T		not specified	Uncertain significance (Feb 23, 2023)
17-74356936-C-G			Likely benign (Jun 01, 2024)
17-74356942-C-T			Likely benign (Jun 01, 2024)
17-74356944-C-T		not specified	Uncertain significance (Sep 22, 2023)
17-74356946-G-A		not specified	Uncertain significance (Nov 07, 2022)
17-74356947-C-G		not specified	Uncertain significance (Jan 03, 2024)
17-74356954-A-C			Likely benign (Jun 01, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
BTBD17	protein_coding	protein_coding	ENST00000375366	3	5531

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0215	0.964	125673	0	8	125681	0.0000318

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	2.37	164	274	0.598	0.0000184	2941
Missense in Polyphen		36	81.141	0.44367		947
Synonymous	2.30	101	135	0.748	0.00000983	1036
Loss of Function	2.13	5	13.4	0.372	5.82e-7	137

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000187	0.000181
Ashkenazi Jewish	0.00	0.00
East Asian	0.0000592	0.0000544
Finnish	0.00	0.00
European (Non-Finnish)	0.0000180	0.0000176
Middle Eastern	0.0000592	0.0000544
South Asian	0.0000356	0.0000327
Other	0.00	0.00

dbNSFP

Source: dbNSFP

Haploinsufficiency Scores

• hipred: Y
• hipred_score: 0.538
• ghis: 0.581

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.454

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Btbd17

Gene ontology

• Biological process: response to virus;negative regulation of viral genome replication
• Cellular component: extracellular region;cytoplasm;plasma membrane