TTLL6

tubulin tyrosine ligase like 6, the group of Tubulin tyrosine ligase family

Basic information

Region (hg38): 17:48762234-48817229

Links

ENSG00000170703

∙ NCBI:284076 ∙ OMIM:610849 ∙ HGNC:26664 ∙ Uniprot:Q8N841 ∙ 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 TTLL6 gene.

not_specified (113 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the TTLL6 gene is commonly pathogenic or not. These statistics are base on transcript: NM_001130918.3. 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			95 clinvar	18 clinvar		113
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	95	18	0

Loading clinvar variants...

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
TTLL6	protein_coding	protein_coding	ENST00000393382	15	54980

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
9.77e-20	0.0582	125210	4	533	125747	0.00214

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.01	426	489	0.871	0.0000266	5902
Missense in Polyphen		107	147.84	0.72373		1831
Synonymous	0.0941	195	197	0.991	0.0000113	1653
Loss of Function	1.15	34	42.0	0.809	0.00000206	514

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00229	0.00229
Ashkenazi Jewish	0.000994	0.000993
East Asian	0.000217	0.000217
Finnish	0.0000462	0.0000462
European (Non-Finnish)	0.00156	0.00156
Middle Eastern	0.000217	0.000217
South Asian	0.00885	0.00876
Other	0.00131	0.00130

dbNSFP

Source: dbNSFP

Function: FUNCTION: Polyglutamylase which preferentially modifies alpha- tubulin. Mediates tubulin polyglutamylation in cilia. Involved in the side-chain elongation step of the polyglutamylation reaction rather than in the initiation step. Generates long side-chains. Generates polyglutamylation of CGAS, leading to impair the DNA- binding activity of CGAS. {ECO:0000250|UniProtKB:A4Q9E8}.;
Pathway: Post-translational protein modification;Metabolism of proteins;Carboxyterminal post-translational modifications of tubulin (Consensus)

Intolerance Scores

loftool: 0.931
rvis_EVS: -0.13
rvis_percentile_EVS: 44.03

Haploinsufficiency Scores

pHI: 0.0595
hipred: N
hipred_score: 0.153
ghis: 0.417

Essentials

essential_gene_CRISPR: N
essential_gene_CRISPR2: S
essential_gene_gene_trap: N
gene_indispensability_pred: N
gene_indispensability_score: 0.0234

Gene Damage Prediction

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

Mouse Genome Informatics

Gene name: Ttll6
Phenotype: homeostasis/metabolism phenotype;

Zebrafish Information Network

Gene name: ttll6
Affected structure: post-vent region
Phenotype tag: abnormal
Phenotype quality: curved

Gene ontology

Biological process: microtubule bundle formation;positive regulation of cilium movement;protein polyglutamylation;microtubule severing
Cellular component: cytosol;microtubule;ciliary basal body
Molecular function: protein binding;ATP binding;tubulin binding;protein-glutamic acid ligase activity;tubulin-glutamic acid ligase activity