TIFAB

TIFA inhibitor

Basic information

Region (hg38): 5:135444225-135452351

Links

ENSG00000255833 ∙ NCBI:497189 ∙ OMIM:612663 ∙ HGNC:34024 ∙ Uniprot:Q6ZNK6 ∙ 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 TIFAB gene.

• Inborn genetic diseases (28 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the TIFAB 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						0
missense			9	3		12
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding			13	3		16
Total	0	0	22	6	0

Variants in TIFAB

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

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

Position	Type	Phenotype	Significance	ClinVar
5-135446396-C-T		not specified	Uncertain significance (Jun 06, 2023)
5-135446400-G-A		not specified	Uncertain significance (Jun 06, 2023)
5-135446403-G-A		not specified	Uncertain significance (Sep 16, 2021)
5-135446412-G-C		not specified	Uncertain significance (Jan 24, 2024)
5-135446444-A-C		not specified	Uncertain significance (Jun 16, 2023)
5-135446475-G-A		not specified	Likely benign (Dec 21, 2023)
5-135446492-T-C		not specified	Uncertain significance (Jun 29, 2022)
5-135446505-C-T		not specified	Uncertain significance (Sep 16, 2021)
5-135446559-A-G		not specified	Uncertain significance (Dec 02, 2022)
5-135446607-C-T		not specified	Likely benign (Aug 06, 2021)
5-135446646-G-T		not specified	Uncertain significance (Dec 30, 2023)
5-135446652-G-C		not specified	Uncertain significance (Jan 03, 2024)
5-135446673-C-T		not specified	Uncertain significance (Jul 06, 2021)
5-135446690-G-A		not specified	Likely benign (Jan 23, 2023)
5-135446756-C-T		not specified	Uncertain significance (Oct 20, 2021)
5-135446798-G-A		not specified	Likely benign (Feb 28, 2023)
5-135446862-C-G		not specified	Uncertain significance (Nov 10, 2022)
5-135446934-G-C		not specified	Uncertain significance (Jan 02, 2024)
5-135446984-G-T		not specified	Uncertain significance (Oct 22, 2021)
5-135446986-G-T		not specified	Uncertain significance (Dec 08, 2023)
5-135447038-T-A		not specified	Uncertain significance (Apr 25, 2022)
5-135447042-G-T		not specified	Uncertain significance (Feb 21, 2024)
5-135447063-C-T		not specified	Uncertain significance (Mar 21, 2022)
5-135449465-C-A		not specified	Uncertain significance (Jun 09, 2022)
5-135449507-T-C		not specified	Uncertain significance (Sep 27, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
TIFAB	protein_coding	protein_coding	ENST00000537858	1	8182

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0000143	0.133	124784	0	16	124800	0.0000641

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.0690	99	97.1	1.02	0.00000612	1003
Missense in Polyphen		15	20.191	0.74292		256
Synonymous	-0.285	47	44.6	1.05	0.00000257	374
Loss of Function	-1.19	6	3.58	1.68	2.38e-7	30

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000210	0.000209
Ashkenazi Jewish	0.00	0.00
East Asian	0.0000557	0.0000556
Finnish	0.00	0.00
European (Non-Finnish)	0.0000447	0.0000441
Middle Eastern	0.0000557	0.0000556
South Asian	0.000131	0.000131
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Inhibits TIFA-mediated TRAF6 activation possibly by inducing a conformational change in TIFA. {ECO:0000269|PubMed:15047173}.

Recessive Scores

• pRec: 0.0891

Intolerance Scores

• loftool: 0.502
• rvis_EVS: -0.23
• rvis_percentile_EVS: 37.11

Haploinsufficiency Scores

• hipred: N
• hipred_score: 0.123
• ghis: 0.438

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.0542

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Tifab
• Phenotype: cellular phenotype; immune system 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); hematopoietic system phenotype

Gene ontology

• Biological process: I-kappaB kinase/NF-kappaB signaling;thorax and anterior abdomen determination;trigeminal nerve development;vestibulocochlear nerve formation;peristalsis;auditory behavior;genitalia morphogenesis;inner ear morphogenesis;regulation of muscle organ development;genitalia development;inner ear development;neuromuscular process controlling balance;mastication;cochlea development;cochlea morphogenesis;craniofacial suture morphogenesis;learned vocalization behavior;negative regulation of relaxation of muscle;negative regulation of saliva secretion;hard palate morphogenesis