TBCC

tubulin folding cofactor C

Basic information

Region (hg38): 6:42744498-42746103

Links

ENSG00000124659 ∙ NCBI:6903 ∙ OMIM:602971 ∙ HGNC:11580 ∙ Uniprot:Q15814 ∙ 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 TBCC gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the TBCC 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			25			25
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	25	0	0

Variants in TBCC

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

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

Position	Type	Phenotype	Significance	ClinVar
6-42745118-T-G		not specified	Uncertain significance (Aug 01, 2022)
6-42745160-C-T		not specified	Uncertain significance (Apr 11, 2023)
6-42745171-C-G		not specified	Uncertain significance (Jun 06, 2023)
6-42745305-C-T		not specified	Uncertain significance (Jan 19, 2024)
6-42745430-G-A		not specified	Uncertain significance (May 25, 2022)
6-42745436-T-C		not specified	Uncertain significance (Dec 15, 2023)
6-42745506-C-T		not specified	Uncertain significance (Mar 30, 2024)
6-42745508-A-G		not specified	Uncertain significance (May 06, 2024)
6-42745520-C-T		not specified	Uncertain significance (Apr 25, 2022)
6-42745541-A-G		not specified	Uncertain significance (Oct 20, 2023)
6-42745559-T-C		not specified	Uncertain significance (Sep 12, 2023)
6-42745595-G-A		not specified	Uncertain significance (Feb 10, 2022)
6-42745596-G-A		not specified	Uncertain significance (Jan 09, 2024)
6-42745626-T-C		not specified	Uncertain significance (Jun 26, 2023)
6-42745668-G-C		not specified	Uncertain significance (Jan 10, 2023)
6-42745676-G-A		not specified	Uncertain significance (Dec 20, 2023)
6-42745688-C-G		not specified	Uncertain significance (Jun 11, 2024)
6-42745749-C-A		not specified	Uncertain significance (Oct 13, 2023)
6-42745758-C-G		not specified	Uncertain significance (Mar 07, 2023)
6-42745877-C-T		not specified	Uncertain significance (Jul 14, 2022)
6-42745899-A-C		not specified	Uncertain significance (Jun 22, 2023)
6-42745902-G-A		not specified	Uncertain significance (Nov 10, 2022)
6-42745913-T-G		not specified	Uncertain significance (Jun 01, 2023)
6-42745927-G-T		not specified	Uncertain significance (Feb 17, 2024)
6-42745956-C-A		not specified	Uncertain significance (Jan 17, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
TBCC	protein_coding	protein_coding	ENST00000244625	1	2340

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00000371	0.375	125723	0	23	125746	0.0000915

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.613	221	197	1.12	0.00000887	2236
Missense in Polyphen		41	54.155	0.75709		642
Synonymous	-1.12	101	87.6	1.15	0.00000410	717
Loss of Function	0.408	9	10.4	0.864	4.46e-7	111

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000149	0.000148
Ashkenazi Jewish	0.00	0.00
East Asian	0.0000544	0.0000544
Finnish	0.00	0.00
European (Non-Finnish)	0.000133	0.000132
Middle Eastern	0.0000544	0.0000544
South Asian	0.0000981	0.0000980
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Tubulin-folding protein; involved in the final step of the tubulin folding pathway. {ECO:0000269|PubMed:11847227}.
• Pathway: Metabolism of proteins;Protein folding;Post-chaperonin tubulin folding pathway (Consensus)

Recessive Scores

• pRec: 0.117

Intolerance Scores

• rvis_EVS: 0.24
• rvis_percentile_EVS: 69.46

Haploinsufficiency Scores

• pHI: 0.123
• hipred: N
• hipred_score: 0.314
• ghis: 0.486

Essentials

• essential_gene_CRISPR: E
• essential_gene_CRISPR2: E
• gene_indispensability_pred: N
• gene_indispensability_score: 0.180

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Tbcc

Gene ontology

• Biological process: cell morphogenesis;protein folding;tubulin complex assembly;post-chaperonin tubulin folding pathway
• Cellular component: cytoplasm;cytosol;cytoskeleton;microtubule;photoreceptor connecting cilium
• Molecular function: GTPase activity;tubulin binding;chaperone binding