TAF7

TATA-box binding protein associated factor 7, the group of General transcription factor IID complex subunits

Basic information

Region (hg38): 5:141259884-141320784

Previous symbols: [ "TAF2F" ]

Links

ENSG00000178913

∙ NCBI:6879 ∙ OMIM:600573 ∙ HGNC:11541 ∙ Uniprot:Q15545 ∙ 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 TAF7 gene.

not_specified (34 variants)

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. These statistics are base on transcript: NM_000005642.3. 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						0
missense			34 clinvar			34
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	34	0	0

Loading clinvar variants...

GnomAD

Source: gnomAD

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: dbNSFP

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