TAF10

TATA-box binding protein associated factor 10, the group of General transcription factor IID complex subunits |SAGA complex

Basic information

Region (hg38): 11:6606293-6612539

Previous symbols: [ "TAF2H", "TAF2A" ]

Links

ENSG00000166337 ∙ NCBI:6881 ∙ OMIM:600475 ∙ HGNC:11543 ∙ Uniprot:Q12962 ∙ 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 TAF10 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the TAF10 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			19		1	20
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding			187	152	9	348
Total	0	0	206	152	10

Variants in TAF10

This is a list of pathogenic ClinVar variants found in the TAF10 region.

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

Position	Type	Phenotype	Significance	ClinVar
11-6607812-G-A			Benign (Jun 23, 2018)
11-6608029-T-C		Primary familial hypertrophic cardiomyopathy	Benign (Jul 28, 2023)
11-6608041-C-T		Primary familial hypertrophic cardiomyopathy	Likely benign (Jun 13, 2022)
11-6608049-C-T		Primary familial hypertrophic cardiomyopathy	Likely benign (Aug 09, 2022)
11-6608050-G-A		not specified	Uncertain significance (Aug 24, 2022)
11-6608054-A-C		not specified	Uncertain significance (Oct 11, 2021)
11-6608066-C-T		Primary familial hypertrophic cardiomyopathy	Uncertain significance (Jul 13, 2021)
11-6608067-C-A		Primary familial hypertrophic cardiomyopathy • not specified	Likely benign (Jun 20, 2023)
11-6608067-C-T		Primary familial hypertrophic cardiomyopathy • not specified	Likely benign (Jul 19, 2022)
11-6608073-C-T		Primary familial hypertrophic cardiomyopathy	Likely benign (Sep 07, 2022)
11-6608083-C-G		not specified	Uncertain significance (Feb 16, 2023)
11-6608084-G-A		Primary familial hypertrophic cardiomyopathy	Uncertain significance (Aug 16, 2022)
11-6608086-G-C		Primary familial hypertrophic cardiomyopathy • ILK-related disorder	Uncertain significance (Dec 25, 2023)
11-6608092-C-T		Primary familial hypertrophic cardiomyopathy • not specified	Uncertain significance (Jul 24, 2023)
11-6608093-G-A		Primary familial hypertrophic cardiomyopathy	Uncertain significance (May 31, 2023)
11-6608096-C-G		Primary familial hypertrophic cardiomyopathy • not specified	Uncertain significance (Apr 21, 2022)
11-6608102-T-C		Primary familial hypertrophic cardiomyopathy	Uncertain significance (Mar 03, 2023)
11-6608105-T-C		Primary familial hypertrophic cardiomyopathy • not specified	Uncertain significance (May 11, 2024)
11-6608107-G-C		Primary familial hypertrophic cardiomyopathy	Uncertain significance (Jan 18, 2024)
11-6608113-T-A		Primary familial hypertrophic cardiomyopathy	Conflicting classifications of pathogenicity (Oct 28, 2023)
11-6608114-TGATCATGCGGGGGGCACG-T		Primary familial hypertrophic cardiomyopathy	Uncertain significance (Oct 09, 2018)
11-6608119-A-G		Primary familial hypertrophic cardiomyopathy	Uncertain significance (Nov 27, 2023)
11-6608125-G-A		Primary familial hypertrophic cardiomyopathy	Uncertain significance (Mar 28, 2019)
11-6608127-G-A		Primary familial hypertrophic cardiomyopathy • not specified	Likely benign (May 05, 2024)
11-6608129-C-T		not specified	Uncertain significance (Nov 08, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
TAF10	protein_coding	protein_coding	ENST00000299424	5	6373

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.881	0.118	0	0	0	0	0.00

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.838	82	106	0.771	0.00000578	1358
Missense in Polyphen		13	32.554	0.39934		371
Synonymous	-1.07	52	43.1	1.21	0.00000224	479
Loss of Function	2.44	0	6.93	0.00	2.91e-7	96

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00	0.00
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.00	0.00
Middle Eastern	0.00	0.00
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: TAFs are components of the transcription factor IID (TFIID) complex, PCAF histone acetylase complex and TBP-free TAFII complex (TFTC). TIIFD is a multimeric protein complex that plays a central role in mediating promoter responses to various activators and repressors.
• Pathway: Basal transcription factors - Homo sapiens (human);Herpes simplex infection - Homo sapiens (human);Disease;Gene expression (Transcription);Generic Transcription Pathway;Transcription of the HIV genome;Late Phase of HIV Life Cycle;HIV Life Cycle;HIV Infection;RNA Polymerase II HIV Promoter Escape;RNA Polymerase II Pre-transcription Events;RNA Polymerase II Transcription Initiation;RNA Polymerase II Transcription Initiation And Promoter Clearance;Post-translational protein modification;Metabolism of proteins;HIV Transcription Initiation;RNA Polymerase II Transcription;Chromatin modifying enzymes;Infectious disease;RNA Polymerase II Promoter Escape;RNA Polymerase II Transcription Pre-Initiation And Promoter Opening;HATs acetylate histones;Ub-specific processing proteases;Deubiquitination;Regulation of TP53 Activity through Phosphorylation;Chromatin organization;C-MYC pathway;Regulation of TP53 Activity;Transcriptional Regulation by TP53;Validated targets of C-MYC transcriptional activation (Consensus)

Recessive Scores

• pRec: 0.171

Haploinsufficiency Scores

• pHI: 0.805
• hipred: Y
• hipred_score: 0.777
• ghis: 0.580

Essentials

• essential_gene_CRISPR: E
• essential_gene_CRISPR2: E
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.973

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Taf10
• Phenotype: homeostasis/metabolism phenotype; cellular phenotype; growth/size/body region 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); embryo phenotype; mortality/aging (the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span)

Gene ontology

• Biological process: G1/S transition of mitotic cell cycle;DNA-templated transcription, initiation;regulation of transcription, DNA-templated;transcription by RNA polymerase II;transcription initiation from RNA polymerase II promoter;apoptotic process;histone deubiquitination;protein deubiquitination;cellular protein-containing complex assembly;multicellular organism growth;histone H3 acetylation;regulation of DNA binding;protein homooligomerization;hepatocyte differentiation;regulation of signal transduction by p53 class mediator;positive regulation of nucleic acid-templated transcription
• Cellular component: PCAF complex;nucleus;nucleoplasm;transcription factor TFIID complex;cytoplasm;STAGA complex;transcription factor TFTC complex;perinuclear region of cytoplasm
• Molecular function: DNA binding;DNA-binding transcription factor activity;transcription coactivator activity;histone acetyltransferase activity;protein binding;enzyme binding;estrogen receptor binding;thiol-dependent ubiquitinyl hydrolase activity;RNA polymerase binding