TTLL10

tubulin tyrosine ligase like 10, the group of Tubulin tyrosine ligase family

Basic information

Region (hg38): 1:1173880-1197936

Previous symbols: [ "TTLL5" ]

Links

ENSG00000162571 ∙ NCBI:254173 ∙ ∙ HGNC:26693 ∙ Uniprot:Q6ZVT0 ∙ 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 TTLL10 gene.

• not_specified (151 variants)
• not_provided (2 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the TTLL10 gene is commonly pathogenic or not. These statistics are base on transcript: NM_001130045.2. 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				1		1
missense			134	17		151
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	134	18	0

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
TTLL10	protein_coding	protein_coding	ENST00000379290	13	24052

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
1.23e-11	0.312	125180	5	562	125747	0.00226

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.330	387	406	0.954	0.0000271	4295
Missense in Polyphen		109	118.78	0.91763		1414
Synonymous	0.452	167	175	0.956	0.0000126	1367
Loss of Function	1.04	20	25.7	0.779	0.00000124	293

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00780	0.00712
Ashkenazi Jewish	0.00	0.00
East Asian	0.0214	0.0194
Finnish	0.000270	0.000231
European (Non-Finnish)	0.000627	0.000501
Middle Eastern	0.0214	0.0194
South Asian	0.000245	0.000229
Other	0.00284	0.00261

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Inactive polyglycylase. {ECO:0000269|PubMed:19524510}.
• Pathway: Post-translational protein modification;Metabolism of proteins;Carboxyterminal post-translational modifications of tubulin (Consensus)

Intolerance Scores

• loftool: 0.950
• rvis_EVS: 3.27
• rvis_percentile_EVS: 99.4

Haploinsufficiency Scores

• pHI: 0.112
• hipred: N
• hipred_score: 0.146

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.0885

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Ttll10
• Phenotype: homeostasis/metabolism phenotype

Gene ontology

• Biological process: protein polyglycylation
• Cellular component: cytosol
• Molecular function: protein binding;ATP binding;protein-glycine ligase activity