BTBD7

BTB domain containing 7, the group of BTB domain containing

Basic information

Region (hg38): 14:93237549-93333092

Links

ENSG00000011114 ∙ NCBI:55727 ∙ OMIM:610386 ∙ HGNC:18269 ∙ Uniprot:Q9P203 ∙ 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 BTBD7 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the BTBD7 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			56	2		58
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding					1	1
Total	0	0	56	2	1

Variants in BTBD7

This is a list of pathogenic ClinVar variants found in the BTBD7 region.

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

Position	Type	Phenotype	Significance	ClinVar
14-93242390-A-C		not specified	Uncertain significance (Jul 09, 2021)
14-93242393-G-T		not specified	Uncertain significance (Jun 30, 2022)
14-93242410-C-T		not specified	Likely benign (Aug 13, 2021)
14-93242446-A-G		not specified	Uncertain significance (May 24, 2023)
14-93242464-G-A		not specified	Likely benign (Nov 15, 2021)
14-93242487-G-C		not specified	Uncertain significance (Jun 01, 2023)
14-93242565-C-T		not specified	Uncertain significance (Sep 01, 2021)
14-93242596-G-A		not specified	Uncertain significance (Dec 16, 2021)
14-93242625-T-C		not specified	Uncertain significance (Nov 09, 2022)
14-93242630-G-T		not specified	Uncertain significance (Mar 16, 2022)
14-93242725-C-G		not specified	Uncertain significance (Oct 25, 2023)
14-93242748-G-A		not specified	Uncertain significance (Sep 15, 2021)
14-93242790-C-A		not specified	Uncertain significance (Feb 01, 2023)
14-93242812-T-C		not specified	Uncertain significance (Feb 28, 2023)
14-93242824-T-C		not specified	Uncertain significance (Sep 01, 2021)
14-93242828-G-T		not specified	Uncertain significance (Dec 22, 2023)
14-93242868-G-A		not specified	Uncertain significance (Mar 25, 2024)
14-93242901-C-T		not specified	Uncertain significance (Jan 05, 2022)
14-93242934-G-A		not specified	Uncertain significance (Jun 03, 2022)
14-93242965-C-G		not specified	Uncertain significance (Nov 10, 2021)
14-93243010-G-A		not specified	Uncertain significance (Aug 17, 2021)
14-93243049-C-T		not specified	Uncertain significance (Apr 11, 2023)
14-93243087-C-T		not specified	Uncertain significance (Nov 05, 2021)
14-93245877-G-A		not specified	Uncertain significance (Mar 31, 2023)
14-93245925-G-A		not specified	Uncertain significance (Feb 28, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
BTBD7	protein_coding	protein_coding	ENST00000334746	10	95543

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.000108	1.00	125724	0	24	125748	0.0000954

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.922	563	628	0.896	0.0000343	7370
Missense in Polyphen		153	202.43	0.75581		2316
Synonymous	0.384	229	237	0.968	0.0000133	2289
Loss of Function	4.25	16	47.7	0.336	0.00000294	552

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000914	0.0000904
Ashkenazi Jewish	0.00	0.00
East Asian	0.0000544	0.0000544
Finnish	0.0000926	0.0000924
European (Non-Finnish)	0.000117	0.000114
Middle Eastern	0.0000544	0.0000544
South Asian	0.000167	0.000163
Other	0.000163	0.000163

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Acts as a mediator of epithelial dynamics and organ branching by promoting cleft progression. Induced following accumulation of fibronectin in forming clefts, leading to local expression of the cell-scattering SNAIL2 and suppression of E- cadherin levels, thereby altering cell morphology and reducing cell-cell adhesion. This stimulates cell separation at the base of forming clefts by local, dynamic intercellular gap formation and promotes cleft progression (By similarity). {ECO:0000250}.

Intolerance Scores

• loftool: 0.364
• rvis_EVS: -0.95
• rvis_percentile_EVS: 9.34

Haploinsufficiency Scores

• pHI: 0.406
• hipred: N
• hipred_score: 0.426
• ghis: 0.639

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.0979

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Btbd7

Gene ontology

• Biological process: multicellular organism development;regulation of branching involved in salivary gland morphogenesis
• Cellular component: nucleus