TAF9B

TATA-box binding protein associated factor 9b

Basic information

Region (hg38): X:78129748-78139650

Previous symbols: [ "TAF9L" ]

Links

ENSG00000187325

∙ NCBI:51616 ∙ OMIM:300754 ∙ HGNC:17306 ∙ Uniprot:Q9HBM6 ∙ 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 TAF9B gene.

not_specified (22 variants)
not_provided (2 variants)
Intellectual_disability (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the TAF9B gene is commonly pathogenic or not. These statistics are base on transcript: NM_000015975.5. 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	PathogenicP	Likely pathogenicLP	VUSVUS	Likely benignLB	BenignB	Sum
synonymous			1 clinvar	2 clinvar		3
missense			22 clinvar			22
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			1 clinvar			1
Total	0	0	24	2	0

Loading clinvar variants...

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
TAF9B	protein_coding	protein_coding	ENST00000341864	7	9959

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
1.09e-10	0.0133	125698	13	34	125745	0.000187

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.113	98	94.9	1.03	0.00000676	1636
Missense in Polyphen		29	18.155	1.5974		327
Synonymous	-1.61	48	35.7	1.34	0.00000276	501
Loss of Function	-1.20	13	9.08	1.43	7.42e-7	148

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000733	0.000610
Ashkenazi Jewish	0.000134	0.0000992
East Asian	0.000441	0.000326
Finnish	0.000125	0.0000924
European (Non-Finnish)	0.000225	0.000158
Middle Eastern	0.000441	0.000326
South Asian	0.000374	0.000229
Other	0.000465	0.000326

dbNSFP

Source: dbNSFP

Function: FUNCTION: Essential for cell viability. TAF9 and TAF9B are involved in transcriptional activation as well as repression of distinct but overlapping sets of genes. May have a role in gene regulation associated with apoptosis. TAFs are components of the transcription factor IID (TFIID) complex, the TBP-free TAFII complex (TFTC), the PCAF histone acetylase complex and the STAGA transcription coactivator-HAT complex. TFIID or TFTC are essential for the regulation of RNA polymerase II-mediated transcription. {ECO:0000269|PubMed:15899866}.;
Pathway: Basal transcription factors - Homo sapiens (human);Herpes simplex infection - Homo sapiens (human);miR-targeted genes in lymphocytes - TarBase;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;Infectious disease;RNA Polymerase II Promoter Escape;RNA Polymerase II Transcription Pre-Initiation And Promoter Opening;Ub-specific processing proteases;Deubiquitination;Regulation of TP53 Activity through Phosphorylation;Regulation of TP53 Activity;Transcriptional Regulation by TP53 (Consensus)

Recessive Scores

pRec: 0.120

Intolerance Scores

loftool: 0.751
rvis_EVS: -0.25
rvis_percentile_EVS: 35.42

Haploinsufficiency Scores

pHI: 0.709
hipred: Y
hipred_score: 0.621
ghis: 0.536

Essentials

essential_gene_CRISPR: N
essential_gene_CRISPR2: N
essential_gene_gene_trap: N
gene_indispensability_pred: E
gene_indispensability_score: 0.964

Gene Damage Prediction

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

Mouse Genome Informatics

Gene name: Taf9b
Phenotype: normal phenotype;

Gene ontology

Biological process: negative regulation of transcription by RNA polymerase II;transcription by RNA polymerase II;transcription initiation from RNA polymerase II promoter;protein deubiquitination;positive regulation of cell growth;negative regulation of apoptotic process;histone H3 acetylation;positive regulation of transcription by RNA polymerase II;protein stabilization;regulation of signal transduction by p53 class mediator;negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator
Cellular component: SAGA complex;nucleoplasm;transcription factor TFIID complex;transcription factor TFTC complex
Molecular function: transcription corepressor activity;histone acetyltransferase activity;protein binding;transcription factor binding;thiol-dependent ubiquitinyl hydrolase activity;transcription regulatory region DNA binding;protein heterodimerization activity