TAF5

TATA-box binding protein associated factor 5, the group of WD repeat domain containing|General transcription factor IID complex subunits

Basic information

Region (hg38): 10:103367966-103389065

Previous symbols: [ "TAF2D" ]

Links

ENSG00000148835 ∙ NCBI:6877 ∙ OMIM:601787 ∙ HGNC:11539 ∙ Uniprot:Q15542 ∙ 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 TAF5 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the TAF5 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					1	1
missense			31			31
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	31	0	1

Variants in TAF5

This is a list of pathogenic ClinVar variants found in the TAF5 region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
10-103368002-G-A		not specified	Uncertain significance (Apr 25, 2022)
10-103368015-C-T		not specified	Uncertain significance (Jan 04, 2024)
10-103368204-C-T		not specified	Uncertain significance (Feb 23, 2023)
10-103368246-C-T		not specified	Uncertain significance (Dec 13, 2021)
10-103368252-C-T		not specified	Uncertain significance (Feb 07, 2023)
10-103368303-G-A		not specified	Uncertain significance (Sep 01, 2021)
10-103368366-C-A		not specified	Uncertain significance (May 23, 2024)
10-103368407-G-A		not specified	Uncertain significance (Jun 07, 2023)
10-103368417-T-G		not specified	Uncertain significance (Dec 27, 2023)
10-103368426-C-T		not specified	Uncertain significance (Mar 15, 2024)
10-103368455-C-T		not specified	Uncertain significance (Aug 13, 2021)
10-103368468-C-T		not specified	Uncertain significance (Sep 01, 2021)
10-103368539-C-T		not specified	Uncertain significance (Aug 12, 2021)
10-103378284-T-A		not specified	Uncertain significance (Nov 29, 2023)
10-103379720-G-A			not provided (-)
10-103379902-G-C		not specified	Uncertain significance (Nov 17, 2023)
10-103381735-G-C			Benign (Dec 04, 2018)
10-103381740-T-A		not specified	Uncertain significance (Jul 20, 2021)
10-103381815-A-G		not specified	Uncertain significance (Aug 02, 2021)
10-103381821-G-A		not specified	Uncertain significance (Jan 19, 2024)
10-103381824-G-A		not specified	Uncertain significance (Jul 05, 2022)
10-103383324-G-C		not specified	Uncertain significance (Feb 03, 2022)
10-103383339-G-C		not specified	Uncertain significance (Jan 30, 2024)
10-103383340-T-C		not specified	Uncertain significance (Aug 08, 2022)
10-103383361-C-T		not specified	Uncertain significance (Feb 06, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
TAF5	protein_coding	protein_coding	ENST00000369839	11	21099

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
1.00	0.000272	125741	0	7	125748	0.0000278

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	2.65	259	410	0.632	0.0000208	5133
Missense in Polyphen		43	113.86	0.37767		1419
Synonymous	0.638	146	156	0.935	0.00000824	1607
Loss of Function	5.16	3	36.7	0.0817	0.00000213	438

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)	0.0000358	0.0000352
Middle Eastern	0.00	0.00
South Asian	0.0000980	0.0000980
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: TAFs are components of the transcription factor IID (TFIID) complex, PCAF histone acetylase complex and TBP-free TAFII complex (TFTC). TAFs components-TIIFD are essential for mediating regulation of RNA polymerase transcription. TAF5/TAFII100 interacts strongly with the histone H4-related TAF6/TAFII80 and the histone H3-related TAF9/TAFII31, as well as a stable complex comprised of both TAF5/TAFII80 and TAF6/TAFII31. Apparently weaker interactions of TAF5/TAFII100 with TBP, TAF1/TAFII250, TAF11/TAFII28, and TAF12/TAFII20, but not TAF7/TAFII55, also have been observed.
• Pathway: Basal transcription factors - Homo sapiens (human);Herpes simplex infection - 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 transcribes snRNA genes;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: 0.127

Intolerance Scores

• loftool: 0.180
• rvis_EVS: -0.56
• rvis_percentile_EVS: 19.54

Haploinsufficiency Scores

• pHI: 0.925
• hipred: Y
• hipred_score: 0.783
• ghis: 0.641

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: E
• essential_gene_gene_trap: E
• gene_indispensability_pred: E
• gene_indispensability_score: 0.942

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Taf5

Gene ontology

• Biological process: chromatin organization;DNA-templated transcription, initiation;regulation of transcription, DNA-templated;transcription by RNA polymerase II;transcription initiation from RNA polymerase II promoter;viral process;histone acetylation;snRNA transcription by RNA polymerase II;regulation of signal transduction by p53 class mediator
• Cellular component: nuclear chromatin;nucleus;nucleoplasm;transcription factor TFIID complex;nucleolus;actin cytoskeleton;transcription factor TFTC complex
• Molecular function: DNA-binding transcription factor activity;histone acetyltransferase activity;protein binding;identical protein binding;transcription regulatory region DNA binding;protein dimerization activity