TAF8

TATA-box binding protein associated factor 8, the group of General transcription factor IID complex subunits

Basic information

Region (hg38): 6:42050513-42087461

Previous symbols: [ "TBN" ]

Links

ENSG00000137413 ∙ NCBI:129685 ∙ OMIM:609514 ∙ HGNC:17300 ∙ Uniprot:Q7Z7C8 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

• neurodevelopmental disorder with severe motor impairment, absent language, cerebral hypomyelination, and brain atrophy (Limited), mode of inheritance: AR
• neurodevelopmental disorder with severe motor impairment, absent language, cerebral hypomyelination, and brain atrophy (Strong), mode of inheritance: AR

Clinical Genomic Database

Source: CGD

Condition	Inheritance	Intervention Categories	Intervention/Rationale	Manifestation Categories	References
Neurodevelopmental disorder with severe motor impairment, absent language, cerebral hypomyelination, and brain atrophy	AR	General	Genetic knowledge may be beneficial related to issues such as selection of optimal supportive care, informed medical decision-making, prognostic considerations, and avoidance of unnecessary testing	Craniofacial; Neurologic; Ophthalmologic	29648665; 35759269

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the TAF8 gene.

• Neurodevelopmental disorder (2 variants)
• Neurodevelopmental disorder with severe motor impairment, absent language, cerebral hypomyelination, and brain atrophy (1 variants)
• TAF8-related disorder (1 variants)
• Severe global developmental delay;Partial agenesis of the corpus callosum;Microcephaly (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the TAF8 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			17			17
nonsense						0
start loss						0
frameshift	2					2
inframe indel						0
splice donor/acceptor (+/-2bp)	1	1				2
splice region						0
non coding				1		1
Total	3	1	17	2	0

Highest pathogenic variant AF is 0.0000328

Variants in TAF8

This is a list of pathogenic ClinVar variants found in the TAF8 region.

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

Position	Type	Phenotype	Significance	ClinVar
6-42050551-G-C		not specified	Uncertain significance (Nov 09, 2024)
6-42050552-C-T		not specified	Uncertain significance (Jan 23, 2024)
6-42050579-C-A		Neurodevelopmental disorder with severe motor impairment, absent language, cerebral hypomyelination, and brain atrophy • not specified	Uncertain significance (Mar 26, 2024)
6-42050590-A-G		Neurodevelopmental disorder with severe motor impairment, absent language, cerebral hypomyelination, and brain atrophy	Pathogenic (Jul 28, 2022)
6-42050591-G-A		Neurodevelopmental disorder with severe motor impairment, absent language, cerebral hypomyelination, and brain atrophy	Pathogenic (Oct 23, 2023)
6-42051374-G-C		not specified	Uncertain significance (Jan 23, 2024)
6-42051409-G-A		not specified	Uncertain significance (Aug 13, 2021)
6-42051459-T-G		not specified	Uncertain significance (Nov 08, 2024)
6-42051482-C-T			Likely benign (Dec 31, 2018)
6-42051487-A-C		not specified	Uncertain significance (May 03, 2023)
6-42051489-A-G		not specified	Uncertain significance (Mar 27, 2023)
6-42055581-A-G		not specified	Uncertain significance (Aug 14, 2024)
6-42055966-A-G		not specified	Uncertain significance (Jun 27, 2023)
6-42056011-G-T		not specified	Uncertain significance (Oct 04, 2024)
6-42057388-G-T		Neurodevelopmental disorder with severe motor impairment, absent language, cerebral hypomyelination, and brain atrophy	Likely pathogenic (Apr 04, 2024)
6-42057445-C-T		not specified	Uncertain significance (May 29, 2024)
6-42057446-C-T		not specified	Uncertain significance (Dec 04, 2024)
6-42057457-C-G		Neurodevelopmental disorder with severe motor impairment, absent language, cerebral hypomyelination, and brain atrophy	Uncertain significance (Oct 05, 2023)
6-42057459-C-G		not specified	Uncertain significance (Dec 26, 2023)
6-42057513-G-A		Neurodevelopmental disorder with severe motor impairment, absent language, cerebral hypomyelination, and brain atrophy	Pathogenic (Jul 28, 2022)
6-42066327-G-T		Neurodevelopmental disorder with severe motor impairment, absent language, cerebral hypomyelination, and brain atrophy	Uncertain significance (Sep 22, 2024)
6-42066378-G-A		not specified	Uncertain significance (Dec 14, 2023)
6-42066384-C-T		not specified	Uncertain significance (May 18, 2023)
6-42066385-G-A		not specified	Uncertain significance (Feb 27, 2024)
6-42066387-G-A		not specified	Uncertain significance (Nov 10, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
TAF8	protein_coding	protein_coding	ENST00000372977	9	36949

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
7.32e-13	0.0185	124776	0	52	124828	0.000208

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.236	186	195	0.952	0.0000118	2007
Missense in Polyphen		53	62.098	0.85349		667
Synonymous	-1.77	98	78.1	1.25	0.00000499	631
Loss of Function	-0.253	18	16.9	1.07	9.01e-7	184

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000871	0.000870
Ashkenazi Jewish	0.00	0.00
East Asian	0.000167	0.000167
Finnish	0.000186	0.000186
European (Non-Finnish)	0.000195	0.000194
Middle Eastern	0.000167	0.000167
South Asian	0.000131	0.000131
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Transcription factor TFIID is one of the general factors required for accurate and regulated initiation by RNA polymerase II. Mediates both basal and activator-dependent transcription. Plays a role in the differentiation of preadipocyte fibroblasts to adipocytes, however, does not seem to play a role in differentiation of myoblasts. Required for the integration of TAF10 in the TAF complex. May be important for survival of cells of the inner cell mass which constitute the pluripotent cell population of the early embryo (By similarity). {ECO:0000250, ECO:0000269|PubMed:14580349}.
• Pathway: Basal transcription factors - Homo sapiens (human);Gene expression (Transcription);RNA polymerase II transcribes snRNA genes;RNA Polymerase II Transcription (Consensus)

Recessive Scores

• pRec: 0.260

Intolerance Scores

• loftool: 0.506
• rvis_EVS: -0.38
• rvis_percentile_EVS: 27.69

Haploinsufficiency Scores

• pHI: 0.311
• hipred: Y
• hipred_score: 0.617
• ghis: 0.577

Essentials

• essential_gene_CRISPR: E
• essential_gene_CRISPR2: S
• essential_gene_gene_trap: E
• gene_indispensability_pred: E
• gene_indispensability_score: 0.833

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Taf8
• 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: taf8
• Affected structure: anatomical system
• Phenotype tag: abnormal
• Phenotype quality: quality

Gene ontology

• Biological process: inner cell mass cell proliferation;cell differentiation;snRNA transcription by RNA polymerase II;regulation of fat cell differentiation;positive regulation of transcription, DNA-templated;maintenance of protein location in nucleus
• Cellular component: nucleus;nucleoplasm;transcription factor TFIID complex;perinuclear region of cytoplasm
• Molecular function: protein binding;protein heterodimerization activity