TAF9
TATA-box binding protein associated factor 9, the group of General transcription factor IID complex subunits
Basic information
Region (hg38): 5:69362025-69370013
Previous symbols: [ "TAF2G" ]
Links
Phenotypes
GenCC
Source:
- schizophrenia (No Known Disease Relationship), mode of inheritance: Unknown
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 TAF9 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 | 7 | |||||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| inframe indel | 0 | |||||
| splice donor/acceptor (+/-2bp) | 0 | |||||
| splice region | 0 | |||||
| non coding | 0 | |||||
| Total | 0 | 0 | 7 | 0 | 0 |
Variants in TAF9
This is a list of pathogenic ClinVar variants found in the TAF9 region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
| Position | Type | Phenotype | Significance | ClinVar |
|---|---|---|---|---|
| 5-69365026-T-C | not specified | Uncertain significance (May 09, 2023) | ||
| 5-69365224-C-T | not specified | Uncertain significance (Jun 29, 2023) | ||
| 5-69365296-A-C | not specified | Uncertain significance (Apr 24, 2024) | ||
| 5-69365311-T-C | not specified | Uncertain significance (Oct 10, 2023) | ||
| 5-69365319-G-A | not specified | Uncertain significance (Apr 04, 2024) | ||
| 5-69365332-C-T | not specified | Uncertain significance (Jun 05, 2024) | ||
| 5-69365395-A-C | not specified | Uncertain significance (Sep 12, 2023) | ||
| 5-69365523-C-T | not specified | Uncertain significance (Jan 02, 2024) | ||
| 5-69365547-G-C | not specified | Uncertain significance (Jul 26, 2022) | ||
| 5-69365565-G-A | not specified | Uncertain significance (Oct 05, 2022) |
GnomAD
Source:
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);Eukaryotic Transcription Initiation;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;Metabolism of nucleotides;RNA Polymerase II Pre-transcription Events;RNA Polymerase II Transcription Initiation;RNA Polymerase II Transcription Initiation And Promoter Clearance;Interconversion of nucleotide di- and triphosphates;HIV Transcription Initiation;RNA polymerase II transcribes snRNA genes;RNA Polymerase II Transcription;Chromatin modifying enzymes;Infectious disease;Purine metabolism;Metabolism;RNA Polymerase II Promoter Escape;RNA Polymerase II Transcription Pre-Initiation And Promoter Opening;HATs acetylate histones;Regulation of TP53 Activity through Phosphorylation;Chromatin organization;C-MYC pathway;Regulation of TP53 Activity;Transcriptional Regulation by TP53;Direct p53 effectors;Validated targets of C-MYC transcriptional activation
(Consensus)
Recessive Scores
- pRec
- 0.388
Intolerance Scores
- loftool
- 0.368
- rvis_EVS
- -0.36
- rvis_percentile_EVS
- 29.16
Haploinsufficiency Scores
- pHI
- 0.956
- hipred
- Y
- hipred_score
- 0.695
- ghis
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- S
- essential_gene_gene_trap
- E
- gene_indispensability_pred
- E
- gene_indispensability_score
- 0.914
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Taf9
- Phenotype
Gene ontology
- Biological process
- box C/D snoRNP assembly;transcription by RNA polymerase II;transcription initiation from RNA polymerase II promoter;cellular response to DNA damage stimulus;positive regulation of cell growth;negative regulation of proteasomal ubiquitin-dependent protein catabolic process;snRNA transcription by RNA polymerase II;negative regulation of apoptotic process;histone H3 acetylation;positive regulation of transcription by RNA polymerase II;protein stabilization;positive regulation of response to cytokine stimulus;response to interleukin-1;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;PCAF complex;nucleus;nucleoplasm;transcription factor TFIID complex;STAGA complex;transcription factor TFTC complex;pre-snoRNP complex;MLL1 complex
- Molecular function
- p53 binding;DNA binding;transcription coactivator activity;histone acetyltransferase activity;protein binding;transcription factor binding;activating transcription factor binding;transcription regulatory region DNA binding;protein heterodimerization activity;ATPase binding;C2H2 zinc finger domain binding