TBCA

tubulin folding cofactor A

Basic information

Region (hg38): 5:77691166-77868780

Links

ENSG00000171530 ∙ NCBI:6902 ∙ OMIM:610058 ∙ HGNC:11579 ∙ Uniprot:O75347 ∙ 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 TBCA gene.

• not_specified (13 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the TBCA gene is commonly pathogenic or not. These statistics are base on transcript: NM_000004607.3. 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	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous						0
missense			12	1		13
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	12	1	0

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
TBCA	protein_coding	protein_coding	ENST00000380377	4	177614

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.160	0.781	125517	0	4	125521	0.0000159

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.595	45	57.7	0.780	0.00000321	707
Missense in Polyphen		7	11.931	0.58672		156
Synonymous	0.690	15	18.8	0.798	9.97e-7	170
Loss of Function	1.55	2	6.13	0.326	2.58e-7	87

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00	0.00
Ashkenazi Jewish	0.00	0.00
East Asian	0.0000558	0.0000544
Finnish	0.00	0.00
European (Non-Finnish)	0.0000181	0.0000176
Middle Eastern	0.0000558	0.0000544
South Asian	0.0000394	0.0000327
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Tubulin-folding protein; involved in the early step of the tubulin folding pathway.
• Pathway: miR-targeted genes in leukocytes - TarBase;miR-targeted genes in lymphocytes - TarBase;miR-targeted genes in muscle cell - TarBase;miR-targeted genes in squamous cell - TarBase;Metabolism of proteins;Protein folding;Post-chaperonin tubulin folding pathway (Consensus)

Recessive Scores

• pRec: 0.116

Intolerance Scores

• loftool: 0.502
• rvis_EVS: -0.01
• rvis_percentile_EVS: 52.85

Haploinsufficiency Scores

• pHI: 0.275
• hipred: N
• hipred_score: 0.388
• ghis: 0.653

Essentials

• essential_gene_CRISPR: E
• essential_gene_CRISPR2: E
• essential_gene_gene_trap: E
• gene_indispensability_pred: N
• gene_indispensability_score: 0.208

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Tbca

Gene ontology

• Biological process: protein folding;tubulin complex assembly;post-chaperonin tubulin folding pathway
• Cellular component: nucleolus;cytoplasm;microtubule;microtubule cytoskeleton
• Molecular function: RNA binding;protein binding;beta-tubulin binding;chaperone binding