TBCEL

tubulin folding cofactor E like

Basic information

Region (hg38): 11:121024071-121090776

Previous symbols: [ "LRRC35" ]

Links

ENSG00000154114 ∙ NCBI:219899 ∙ OMIM:610451 ∙ HGNC:28115 ∙ Uniprot:Q5QJ74 ∙ 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 TBCEL gene.

• Inborn genetic diseases (11 variants)
• not provided (1 variants)

Variants pathogenicity by type

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

Variants in TBCEL

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

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

Position	Type	Phenotype	Significance	ClinVar
11-121045764-G-A			Uncertain significance (Aug 23, 2023)
11-121045800-C-A		not specified	Uncertain significance (Oct 02, 2023)
11-121045812-C-G		not specified	Uncertain significance (Jun 02, 2023)
11-121045812-C-T		not specified	Uncertain significance (Jul 25, 2023)
11-121047537-A-G		not specified	Uncertain significance (Jan 05, 2022)
11-121053551-G-A		not specified	Uncertain significance (Apr 05, 2023)
11-121053569-A-C		not specified	Uncertain significance (Aug 02, 2021)
11-121053659-G-A		not specified	Uncertain significance (Dec 28, 2023)
11-121053712-G-T		not specified	Uncertain significance (Jul 06, 2021)
11-121053713-A-T		TBCEL-related disorder	Likely benign (Nov 11, 2022)
11-121055099-G-C		not specified	Uncertain significance (Sep 22, 2022)
11-121055107-A-G		not specified	Uncertain significance (Jan 03, 2024)
11-121055174-G-A		not specified	Uncertain significance (Sep 21, 2023)
11-121055191-T-C		not specified	Uncertain significance (Feb 27, 2024)
11-121055204-A-T		not specified	Uncertain significance (Nov 07, 2022)
11-121055285-G-A		not specified	Uncertain significance (Nov 07, 2023)
11-121058365-A-G		not specified	Uncertain significance (Sep 17, 2021)
11-121058389-A-C		not specified	Uncertain significance (Feb 12, 2024)
11-121086951-A-G		not specified	Uncertain significance (Sep 27, 2021)
11-121086956-C-T		not specified	Uncertain significance (Feb 10, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
TBCEL	protein_coding	protein_coding	ENST00000422003	7	66704

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.975	0.0253	125356	0	4	125360	0.0000160

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	2.77	110	227	0.484	0.0000118	2778
Missense in Polyphen		24	78.092	0.30733		911
Synonymous	1.02	74	86.0	0.861	0.00000455	808
Loss of Function	3.75	2	20.1	0.0993	0.00000119	239

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000619	0.0000616
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.0000929	0.0000926
European (Non-Finnish)	0.00000886	0.00000882
Middle Eastern	0.00	0.00
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Acts as a regulator of tubulin stability. {ECO:0000269|PubMed:15728251}.

Recessive Scores

• pRec: 0.117

Intolerance Scores

• loftool: 0.123
• rvis_EVS: -0.14
• rvis_percentile_EVS: 43.29

Haploinsufficiency Scores

• pHI: 0.499
• hipred: Y
• hipred_score: 0.662
• ghis: 0.578

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.271

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Tbcel

Gene ontology

• Cellular component: cytoplasm;cytoskeleton
• Molecular function: protein binding