TBCB

tubulin folding cofactor B

Basic information

Region (hg38): 19:36114289-36125947

Previous symbols: [ "CKAP1" ]

Links

ENSG00000105254

∙ NCBI:1155 ∙ OMIM:601303 ∙ HGNC:1989 ∙ Uniprot:Q99426 ∙ 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 TBCB gene.

not_specified (40 variants)
NEURODEVELOPMENTAL_DISORDER_WITH_BEHAVIORAL_ABNORMALITIES_AND_CHILDHOOD-ONSET_SPASTIC_PARAPLEGIA (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the TBCB gene is commonly pathogenic or not. These statistics are base on transcript: NM_000001281.3. 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			40 clinvar			40
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	40	0	0

Loading clinvar variants...

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
TBCB	protein_coding	protein_coding	ENST00000221855	6	11659

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0110	0.952	125738	0	10	125748	0.0000398

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.798	125	153	0.818	0.00000977	1556
Missense in Polyphen		20	34.127	0.58604		374
Synonymous	-0.550	72	66.3	1.09	0.00000460	473
Loss of Function	1.81	5	11.7	0.428	5.02e-7	142

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000123	0.000123
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.0000462	0.0000462
European (Non-Finnish)	0.0000282	0.0000264
Middle Eastern	0.00	0.00
South Asian	0.0000980	0.0000980
Other	0.000172	0.000163

dbNSFP

Source: dbNSFP

Function: FUNCTION: Binds to alpha-tubulin folding intermediates after their interaction with cytosolic chaperonin in the pathway leading from newly synthesized tubulin to properly folded heterodimer (PubMed:9265649). Involved in regulation of tubulin heterodimer dissociation. May function as a negative regulator of axonal growth (By similarity). {ECO:0000250|UniProtKB:Q9D1E6, ECO:0000269|PubMed:9265649}.;
Pathway: Metabolism of proteins;Protein folding;Post-chaperonin tubulin folding pathway (Consensus)

Recessive Scores

pRec: 0.105

Intolerance Scores

loftool: 0.290
rvis_EVS: -0.38
rvis_percentile_EVS: 27.42

Haploinsufficiency Scores

pHI: 0.0892
hipred: Y
hipred_score: 0.514
ghis: 0.589

Essentials

essential_gene_CRISPR: E
essential_gene_CRISPR2: S
essential_gene_gene_trap: E
gene_indispensability_pred: E
gene_indispensability_score: 0.634

Gene Damage Prediction

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

Mouse Genome Informatics

Gene name: Tbcb
Phenotype

Gene ontology

Biological process: nervous system development;cell differentiation
Cellular component: cytoplasm;cytosol;microtubule;microtubule cytoskeleton
Molecular function: protein binding