BTAF1

B-TFIID TATA-box binding protein associated factor 1, the group of Armadillo like helical domain containing

Basic information

Region (hg38): 10:91923770-92031437

Links

ENSG00000095564 ∙ NCBI:9044 ∙ OMIM:605191 ∙ HGNC:17307 ∙ Uniprot:O14981 ∙ 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 BTAF1 gene.

• not_specified (136 variants)
• not_provided (15 variants)
• BTAF1-related_disorder (3 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the BTAF1 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000003972.3. Only rare variants are included in the table.

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.

Effect	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous				3	2	5
missense			137	2		139
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	137	5	2

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
BTAF1	protein_coding	protein_coding	ENST00000265990	38	106557

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
1.00	3.78e-12	125734	0	14	125748	0.0000557

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	4.38	578	960	0.602	0.0000485	12125
Missense in Polyphen		106	300.08	0.35323		3663
Synonymous	-0.308	343	336	1.02	0.0000172	3524
Loss of Function	8.75	7	103	0.0681	0.00000566	1221

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000650	0.0000615
Ashkenazi Jewish	0.0000993	0.0000992
East Asian	0.00	0.00
Finnish	0.0000463	0.0000462
European (Non-Finnish)	0.000107	0.0000879
Middle Eastern	0.00	0.00
South Asian	0.00	0.00
Other	0.000164	0.000163

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Regulates transcription in association with TATA binding protein (TBP). Removes TBP from the TATA box in an ATP-dependent manner.

Recessive Scores

• pRec: 0.145

Intolerance Scores

• loftool: 0.0233
• rvis_EVS: -1.72
• rvis_percentile_EVS: 2.47

Haploinsufficiency Scores

• pHI: 0.954
• hipred: Y
• hipred_score: 0.777
• ghis: 0.626

Essentials

• essential_gene_CRISPR: E
• essential_gene_CRISPR2: E
• essential_gene_gene_trap: E
• gene_indispensability_pred: E
• gene_indispensability_score: 0.876

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Btaf1
• Phenotype: homeostasis/metabolism phenotype; muscle phenotype; growth/size/body region phenotype; embryo phenotype; nervous system phenotype (the observable morphological and physiological characteristics of the extensive, intricate network of electochemical structures in the body that is comprised of the brain, spinal cord, nerves, ganglia and parts of the receptor organs that are manifested through development and lifespan); cardiovascular system phenotype (the observable morphological and physiological characteristics of the mammalian heart, blood vessels, or circulatory system that are manifested through development and lifespan)

Gene ontology

• Biological process: negative regulation of chromatin binding;negative regulation of transcription, DNA-templated
• Cellular component: nucleoplasm;intracellular membrane-bounded organelle
• Molecular function: DNA binding;DNA-binding transcription factor activity;helicase activity;ATP binding