TAF7L

TATA-box binding protein associated factor 7 like

Basic information

Region (hg38): X:101268253-101293057

Previous symbols: [ "TAF2Q" ]

Links

ENSG00000102387 ∙ NCBI:54457 ∙ OMIM:300314 ∙ HGNC:11548 ∙ Uniprot:Q5H9L4 ∙ 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 TAF7L gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the TAF7L 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					2	2
missense			17	2	1	20
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	2	3

Variants in TAF7L

This is a list of pathogenic ClinVar variants found in the TAF7L region.

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

Position	Type	Phenotype	Significance	ClinVar
X-101269197-T-C		not specified	Uncertain significance (Apr 26, 2023)
X-101269209-C-T			Likely benign (-)
X-101269222-C-T		not specified	Uncertain significance (Jul 26, 2023)
X-101276507-A-G		not specified	Uncertain significance (Jan 08, 2024)
X-101276514-G-A		not specified	Uncertain significance (Apr 16, 2024)
X-101277621-C-T		not specified	Uncertain significance (Dec 15, 2022)
X-101277644-G-A		not specified	Uncertain significance (Aug 19, 2023)
X-101277652-C-A		not specified	Uncertain significance (Jul 26, 2023)
X-101277689-T-C		not specified	Uncertain significance (Oct 06, 2021)
X-101277690-T-C		not specified	Uncertain significance (Apr 24, 2024)
X-101277702-C-T		not specified	Uncertain significance (Jan 24, 2024)
X-101278058-C-T		not specified	Likely benign (Mar 30, 2024)
X-101278075-C-T		not specified	Uncertain significance (Jul 08, 2022)
X-101278103-C-T		not specified	Uncertain significance (Feb 10, 2023)
X-101282358-C-T			Benign (Feb 09, 2018)
X-101282372-T-C		not specified	Uncertain significance (Jun 22, 2023)
X-101282381-T-C		not specified	Likely benign (May 15, 2024)
X-101283493-G-A		not specified	Uncertain significance (Dec 19, 2022)
X-101286623-G-A		not specified	Uncertain significance (Aug 21, 2023)
X-101287527-T-C		not specified	Uncertain significance (Mar 20, 2023)
X-101287530-T-C			Likely benign (Sep 30, 2018)
X-101292814-G-A		not specified	Uncertain significance (Mar 29, 2022)
X-101292833-G-A			Uncertain significance (-)
X-101292836-G-A			Benign (Feb 09, 2018)
X-101292865-C-T			Benign (Oct 17, 2017)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
TAF7L	protein_coding	protein_coding	ENST00000372907	13	24819

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.986	0.0136	123484	2	0	123486	0.00000810

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.144	169	174	0.969	0.0000134	3094
Missense in Polyphen		27	39.979	0.67535		777
Synonymous	0.760	57	64.8	0.880	0.00000543	792
Loss of Function	3.64	1	17.4	0.0574	0.00000126	310

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)	0.0000126	0.00000906
Middle Eastern	0.00	0.00
South Asian	0.0000528	0.0000330
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Probably functions as a spermatogensis-specific 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. May play a role in spermatogenesis (By similarity). {ECO:0000250}.
• Pathway: Basal transcription factors - Homo sapiens (human);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: 0.0722

Intolerance Scores

• loftool: 0.603
• rvis_EVS: 0.31
• rvis_percentile_EVS: 72.38

Haploinsufficiency Scores

• pHI: 0.0420
• hipred: N
• hipred_score: 0.479

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.00159

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Taf7l
• Phenotype: cellular phenotype; muscle phenotype; adipose tissue phenotype (the observable morphological and physiological characteristics of mammalian fat tissue that are manifested through development and lifespan); endocrine/exocrine gland phenotype; reproductive system phenotype

Gene ontology

• Biological process: regulation of transcription by RNA polymerase II;multicellular organism development;spermatogenesis;biological_process;cell differentiation;RNA polymerase II preinitiation complex assembly;positive regulation of nucleic acid-templated transcription
• Cellular component: transcription factor TFIID complex;cytoplasm
• Molecular function: molecular_function;transcription coactivator activity;transcription factor binding;histone acetyltransferase binding;transcription regulatory region DNA binding