TAF9B
TATA-box binding protein associated factor 9b
Basic information
Region (hg38): X:78129748-78139650
Previous symbols: [ "TAF9L" ]
Links
Phenotypes
GenCC
Source:
No genCC data.
ClinVar
This is a list of variants' phenotypes submitted to
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.
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 | 2 | |||||
| missense | 10 | 10 | ||||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| inframe indel | 0 | |||||
| splice donor/acceptor (+/-2bp) | 1 | |||||
| splice region | 0 | |||||
| non coding | 0 | |||||
| Total | 0 | 0 | 11 | 2 | 0 |
Variants in TAF9B
This is a list of pathogenic ClinVar variants found in the TAF9B region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
| Position | Type | Phenotype | Significance | ClinVar |
|---|---|---|---|---|
| X-78131628-A-G | Likely benign (Mar 01, 2023) | |||
| X-78131642-G-A | not specified | Uncertain significance (Sep 01, 2021) | ||
| X-78131686-G-A | not specified | Uncertain significance (Apr 17, 2024) | ||
| X-78136913-ACCTA-TT | not specified | Uncertain significance (Jan 01, 2015) | ||
| X-78136930-T-G | not specified | Uncertain significance (Jun 04, 2024) | ||
| X-78136987-G-C | not specified | Uncertain significance (Aug 12, 2021) | ||
| X-78137868-C-T | not specified | Uncertain significance (Nov 08, 2022) | ||
| X-78138024-C-G | not specified | Uncertain significance (Jul 19, 2023) | ||
| X-78138036-C-A | not specified | Uncertain significance (May 22, 2023) | ||
| X-78138051-C-T | not specified | Uncertain significance (Jul 06, 2021) | ||
| X-78138072-C-G | not specified | Uncertain significance (Sep 17, 2021) | ||
| X-78138073-A-G | Likely benign (Jul 01, 2023) | |||
| X-78138843-G-T | Intellectual disability | Uncertain significance (-) | ||
| X-78138870-T-C | not specified | Uncertain significance (Jan 22, 2024) | ||
| X-78139567-A-T | not specified | Uncertain significance (Dec 27, 2023) | ||
| X-78139575-G-C | not specified | Uncertain significance (Sep 01, 2021) | ||
| X-78139604-G-A | not specified | Uncertain significance (Apr 01, 2024) |
GnomAD
Source:
| 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:
- 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