GeneBe

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

Clinical Genomic Database

Source: CGD

ConditionInheritanceIntervention CategoriesIntervention/Rationale Manifestation CategoriesReferences
Neurodevelopmental disorder with severe motor impairment, absent language, cerebral hypomyelination, and brain atrophyARGeneralGenetic knowledge may be beneficial related to issues such as selection of optimal supportive care, informed medical decision-making, prognostic considerations, and avoidance of unnecessary testingCraniofacial; Neurologic; Ophthalmologic29648665; 35759269

ClinVar

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

  • not_specified (44 variants)
  • Neurodevelopmental_disorder_with_severe_motor_impairment,_absent_language,_cerebral_hypomyelination,_and_brain_atrophy (9 variants)
  • not_provided (4 variants)
  • Neurodevelopmental_disorder (2 variants)
  • TAF8-related_disorder (1 variants)
  • Partial_agenesis_of_the_corpus_callosum (1 variants)
  • Microcephaly (1 variants)
  • Severe_global_developmental_delay (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. These statistics are base on transcript: NM_000138572.3. 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.

EffectPLPVUSLBBSum
synonymous
1
clinvar
1
clinvar
 2
missense
44
clinvar
2
clinvar
 46
nonsense
1
clinvar
 1
start loss
0
frameshift
2
clinvar
1
clinvar
 3
splice donor/acceptor (+/-2bp)
1
clinvar
1
clinvar
 2
Total 5 2 44 3 0

Highest pathogenic variant AF is 0.00005029007

Loading clinvar variants...

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
TAF8protein_codingprotein_codingENST00000372977 936949
pLI Probability
LOF Intolerant 		pRec Probability
LOF Recessive 		Individuals with
no LOFs 		Individuals with
Homozygous LOFs 		Individuals with
Heterozygous LOFs 		Defined p
7.32e-130.01851247760521248280.000208
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense0.2361861950.9520.00001182007
Missense in Polyphen5362.0980.85349667
Synonymous-1.779878.11.250.00000499631
Loss of Function-0.2531816.91.079.01e-7184

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.0008710.000870
Ashkenazi Jewish0.000.00
East Asian0.0001670.000167
Finnish0.0001860.000186
European (Non-Finnish)0.0001950.000194
Middle Eastern0.0001670.000167
South Asian0.0001310.000131
Other0.000.00

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

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium

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