TAF1B

TATA-box binding protein associated factor, RNA polymerase I subunit B

Basic information

Region (hg38): 2:9843443-9934416

Links

ENSG00000115750

∙ NCBI:9014 ∙ OMIM:604904 ∙ HGNC:11533 ∙ Uniprot:Q53T94 ∙ 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 TAF1B gene.

not_specified (65 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the TAF1B gene is commonly pathogenic or not. These statistics are base on transcript: NM_000005680.3. 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.

Effect	PathogenicP	Likely pathogenicLP	VUSVUS	Likely benignLB	BenignB	Sum
synonymous						0
missense			62 clinvar	3 clinvar		65
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	62	3	0

Loading clinvar variants...

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
TAF1B	protein_coding	protein_coding	ENST00000263663	15	91063

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
7.98e-15	0.388	125612	1	135	125748	0.000541

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.775	257	294	0.873	0.0000144	3868
Missense in Polyphen		61	88.515	0.68915		1189
Synonymous	-0.265	105	102	1.03	0.00000516	1012
Loss of Function	1.44	27	36.3	0.743	0.00000171	462

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00120	0.00120
Ashkenazi Jewish	0.000397	0.000397
East Asian	0.000598	0.000489
Finnish	0.000278	0.000277
European (Non-Finnish)	0.000786	0.000712
Middle Eastern	0.000598	0.000489
South Asian	0.000236	0.000229
Other	0.000326	0.000326

dbNSFP

Source: dbNSFP

Function: FUNCTION: Component of RNA polymerase I core factor complex that acts as a GTF2B/TFIIB-like factor and plays a key role in multiple steps during transcription initiation such as pre-initiation complex (PIC) assembly and postpolymerase recruitment events in polymerase I (Pol I) transcription. Binds rDNA promoters and plays a role in Pol I recruitment as a component of the SL1/TIF-IB complex and, possibly, directly through its interaction with RRN3. {ECO:0000269|PubMed:15970593, ECO:0000269|PubMed:21921198, ECO:0000269|PubMed:21921199, ECO:0000269|PubMed:7491500, ECO:0000269|PubMed:7801123, ECO:0000269|PubMed:7801130}.;
Pathway: B-WICH complex positively regulates rRNA expression;Positive epigenetic regulation of rRNA expression;SIRT1 negatively regulates rRNA expression;NoRC negatively regulates rRNA expression;Negative epigenetic regulation of rRNA expression;Epigenetic regulation of gene expression;Gene expression (Transcription);RNA Polymerase I Promoter Clearance;RNA Polymerase I Transcription Termination;RNA Polymerase I Transcription;RNA Polymerase I Transcription Initiation;RNA Polymerase I Promoter Escape;RNA Polymerase I Chain Elongation (Consensus)

Recessive Scores

pRec: 0.127

Intolerance Scores

loftool: 0.941
rvis_EVS: 0.76
rvis_percentile_EVS: 86.8

Haploinsufficiency Scores

pHI: 0.211
hipred: Y
hipred_score: 0.551
ghis: 0.458

Essentials

essential_gene_CRISPR: N
essential_gene_CRISPR2: E
essential_gene_gene_trap: E
gene_indispensability_pred: E
gene_indispensability_score: 0.713

Gene Damage Prediction

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

Mouse Genome Informatics

Gene name: Taf1b
Phenotype

Zebrafish Information Network

Gene name: taf1b
Affected structure: head
Phenotype tag: abnormal
Phenotype quality: pointed

Gene ontology

Biological process: RNA polymerase I preinitiation complex assembly;transcription, DNA-templated;transcription initiation from RNA polymerase I promoter;termination of RNA polymerase I transcription;nucleolar large rRNA transcription by RNA polymerase I;positive regulation of gene expression, epigenetic
Cellular component: nucleus;nucleoplasm;RNA polymerase transcription factor SL1 complex;RNA polymerase I core factor complex
Molecular function: RNA polymerase I CORE element sequence-specific DNA binding;protein binding;TBP-class protein binding;metal ion binding