TAF5L

TATA-box binding protein associated factor 5 like, the group of WD repeat domain containing

Basic information

Region (hg38): 1:229593134-229626122

Links

ENSG00000135801 ∙ NCBI:27097 ∙ ∙ HGNC:17304 ∙ Uniprot:O75529 ∙ 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 TAF5L gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the TAF5L 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			28			28
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	28	0	1

Variants in TAF5L

This is a list of pathogenic ClinVar variants found in the TAF5L region.

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

Position	Type	Phenotype	Significance	ClinVar
1-229594301-T-C		not specified	Uncertain significance (Nov 22, 2021)
1-229594371-C-T		not specified	Uncertain significance (Dec 27, 2023)
1-229594383-G-C		not specified	Uncertain significance (Jan 09, 2024)
1-229594401-C-A		not specified	Uncertain significance (Jan 16, 2024)
1-229594401-C-T		not specified	Uncertain significance (Jun 21, 2022)
1-229594410-T-A		not specified	Uncertain significance (Aug 23, 2021)
1-229594574-G-A		not specified	Uncertain significance (Mar 20, 2024)
1-229594616-G-A		not specified	Uncertain significance (Jul 09, 2021)
1-229594805-A-G		not specified	Uncertain significance (Sep 01, 2021)
1-229594850-C-T		not specified	Uncertain significance (Jan 02, 2024)
1-229594913-T-C		not specified	Uncertain significance (Oct 04, 2022)
1-229595028-T-C		not specified	Uncertain significance (Jul 13, 2021)
1-229595051-C-T		not specified	Uncertain significance (May 18, 2022)
1-229595052-G-A		not specified	Uncertain significance (Jun 11, 2024)
1-229595069-G-A		not specified	Uncertain significance (Dec 11, 2023)
1-229602284-A-G		not specified	Uncertain significance (Jun 21, 2023)
1-229602392-T-C		not specified	Uncertain significance (Dec 19, 2022)
1-229602454-G-A		not specified	Uncertain significance (Aug 03, 2022)
1-229602461-C-T		not specified	Uncertain significance (Jan 17, 2024)
1-229602476-G-C		not specified	Uncertain significance (Oct 12, 2022)
1-229602503-C-T		not specified	Uncertain significance (Aug 18, 2021)
1-229602517-C-T		not specified	Uncertain significance (Mar 18, 2024)
1-229602520-G-A		not specified	Uncertain significance (Oct 27, 2022)
1-229602554-T-G		not specified	Uncertain significance (Aug 28, 2023)
1-229602764-C-T		not specified	Uncertain significance (Jan 30, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
TAF5L	protein_coding	protein_coding	ENST00000258281	4	32937

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.999	0.000960	125607	0	3	125610	0.0000119

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	2.37	232	358	0.648	0.0000224	3865
Missense in Polyphen		34	97.646	0.3482		1106
Synonymous	0.276	149	153	0.972	0.0000104	1175
Loss of Function	4.40	1	24.5	0.0408	0.00000150	247

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)	0.0000265	0.0000264
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 PCAF complex. The PCAF complex is capable of efficiently acetylating histones in a nucleosomal context. The PCAF complex could be considered as the human version of the yeast SAGA complex.
• Pathway: Basal transcription factors - Homo sapiens (human);Herpes simplex infection - Homo sapiens (human);Chromatin modifying enzymes;HATs acetylate histones;Chromatin organization (Consensus)

Recessive Scores

• pRec: 0.134

Intolerance Scores

• loftool: 0.0362
• rvis_EVS: -1.06
• rvis_percentile_EVS: 7.48

Haploinsufficiency Scores

• pHI: 0.354
• hipred: Y
• hipred_score: 0.739
• ghis: 0.594

Essentials

• essential_gene_CRISPR: E
• essential_gene_CRISPR2: S
• essential_gene_gene_trap: K
• gene_indispensability_pred: E
• gene_indispensability_score: 0.986

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Taf5l

Gene ontology

• Biological process: transcription by RNA polymerase II;histone H3 acetylation;positive regulation of nucleic acid-templated transcription
• Cellular component: nucleus;nuclear speck;STAGA complex;transcription factor TFTC complex;cytoplasmic ribonucleoprotein granule
• Molecular function: transcription coactivator activity;histone acetyltransferase activity;protein binding