TAF7
TATA-box binding protein associated factor 7, the group of General transcription factor IID complex subunits
Basic information
Region (hg38): 5:141259883-141320784
Previous symbols: [ "TAF2F" ]
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 TAF7 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 | 17 | 17 | ||||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| inframe indel | 0 | |||||
| splice donor/acceptor (+/-2bp) | 0 | |||||
| splice region | 0 | |||||
| non coding | 0 | |||||
| Total | 0 | 0 | 17 | 0 | 0 |
Variants in TAF7
This is a list of pathogenic ClinVar variants found in the TAF7 region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
| Position | Type | Phenotype | Significance | ClinVar |
|---|---|---|---|---|
| 5-141303040-C-T | not specified | Uncertain significance (Sep 17, 2021) | ||
| 5-141303047-C-T | not specified | Uncertain significance (May 23, 2024) | ||
| 5-141303177-A-T | not specified | Uncertain significance (Dec 26, 2023) | ||
| 5-141303294-T-C | not specified | Uncertain significance (Feb 01, 2023) | ||
| 5-141303354-T-C | not specified | Uncertain significance (Mar 14, 2023) | ||
| 5-141303381-T-G | not specified | Uncertain significance (Mar 28, 2023) | ||
| 5-141303393-T-C | not specified | Uncertain significance (Jun 05, 2023) | ||
| 5-141303426-G-T | not specified | Uncertain significance (Dec 27, 2023) | ||
| 5-141303430-T-G | not specified | Uncertain significance (Nov 22, 2021) | ||
| 5-141303453-T-C | not specified | Uncertain significance (Sep 12, 2023) | ||
| 5-141303514-C-T | not specified | Uncertain significance (Jul 12, 2023) | ||
| 5-141303516-G-A | not specified | Uncertain significance (Aug 08, 2023) | ||
| 5-141303555-A-C | not specified | Uncertain significance (Feb 24, 2022) | ||
| 5-141303558-T-C | not specified | Uncertain significance (Aug 01, 2023) | ||
| 5-141303586-T-C | not specified | Uncertain significance (Jun 19, 2024) | ||
| 5-141303587-C-G | not specified | Uncertain significance (Jun 19, 2024) | ||
| 5-141303612-T-C | not specified | Uncertain significance (Jul 14, 2023) | ||
| 5-141303663-C-T | not specified | Uncertain significance (May 05, 2023) | ||
| 5-141303666-G-T | not specified | Uncertain significance (Jan 26, 2022) | ||
| 5-141303810-C-G | not specified | Uncertain significance (Aug 03, 2022) | ||
| 5-141319001-C-G | not specified | Uncertain significance (Jan 31, 2022) | ||
| 5-141319084-C-T | not specified | Uncertain significance (Nov 03, 2022) | ||
| 5-141319126-T-C | not specified | Uncertain significance (Dec 16, 2023) | ||
| 5-141319201-G-T | not specified | Uncertain significance (Oct 25, 2022) | ||
| 5-141319290-T-A | not specified | Uncertain significance (Apr 26, 2023) |
GnomAD
Source:
| Gene | Type | Bio Type | Transcript | Coding Exons | Length |
|---|---|---|---|---|---|
| TAF7 | protein_coding | protein_coding | ENST00000313368 | 1 | 2274 |
| pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
|---|---|---|---|---|---|---|
| 0.894 | 0.106 | 0 | 0 | 0 | 0 | 0.00 |
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
|---|---|---|---|---|---|---|
| Missense | 1.74 | 119 | 186 | 0.640 | 0.00000961 | 2335 |
| Missense in Polyphen | 21 | 49.916 | 0.42071 | 675 | ||
| Synonymous | 1.70 | 50 | 67.8 | 0.738 | 0.00000336 | 643 |
| Loss of Function | 2.89 | 1 | 11.7 | 0.0858 | 7.77e-7 | 134 |
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:
- Function
- FUNCTION: Functions as a component of the DNA-binding general transcription factor complex TFIID, a multimeric protein complex that plays a central role in mediating promoter responses to various activators and repressors. Present in both of the previously described TFIID species which either lack or contain TAFII30 (TFIID alpha and TFIID beta respectively). {ECO:0000269|PubMed:10438527}.;
- 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;RNA Polymerase II Pre-transcription Events;RNA Polymerase II Transcription Initiation;RNA Polymerase II Transcription Initiation And Promoter Clearance;HIV Transcription Initiation;RNA Polymerase II Transcription;Infectious disease;RNA Polymerase II Promoter Escape;RNA Polymerase II Transcription Pre-Initiation And Promoter Opening;Regulation of TP53 Activity through Phosphorylation;Regulation of TP53 Activity;Transcriptional Regulation by TP53
(Consensus)
Recessive Scores
- pRec
- 0.156
Intolerance Scores
- loftool
- 0.293
- rvis_EVS
- -0.32
- rvis_percentile_EVS
- 31.46
Haploinsufficiency Scores
- pHI
- 0.590
- hipred
- Y
- hipred_score
- 0.786
- ghis
- 0.609
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- S
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- E
- gene_indispensability_score
- 1.00
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Taf7
- Phenotype
- endocrine/exocrine gland phenotype; immune system phenotype; hematopoietic system 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); embryo phenotype;
Zebrafish Information Network
- Gene name
- taf7
- Affected structure
- head
- Phenotype tag
- abnormal
- Phenotype quality
- decreased size
Gene ontology
- Biological process
- negative regulation of transcription by RNA polymerase II;spermine transport;DNA-templated transcription, initiation;regulation of transcription by RNA polymerase II;transcription by RNA polymerase II;transcription initiation from RNA polymerase II promoter;negative regulation of protein kinase activity;intracellular estrogen receptor signaling pathway;negative regulation of histone acetylation;negative regulation of transcription, DNA-templated;positive regulation of transcription by RNA polymerase II;RNA polymerase II preinitiation complex assembly;regulation of transcription initiation from RNA polymerase II promoter;regulation of signal transduction by p53 class mediator
- Cellular component
- nucleoplasm;transcription factor complex;transcription factor TFIID complex;Golgi apparatus;transcription factor TFTC complex;MLL1 complex
- Molecular function
- TFIIH-class transcription factor complex binding;DNA-binding transcription factor activity;transcription coactivator activity;protein binding;transcription factor binding;histone acetyltransferase binding;vitamin D receptor binding;transcription regulatory region DNA binding;thyroid hormone receptor binding;protein heterodimerization activity;H3K27me3 modified histone binding;P-TEFb complex binding