TTLL11

tubulin tyrosine ligase like 11, the group of Tubulin tyrosine ligase family

Basic information

Region (hg38): 9:121815674-122093606

Previous symbols: [ "C9orf20", "TTLL11-IT1", "C9orf148" ]

Links

ENSG00000175764 ∙ NCBI:158135 ∙ ∙ HGNC:18113 ∙ Uniprot:Q8NHH1 ∙ 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 TTLL11 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the TTLL11 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			37	3		40
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding			2	1		3
Total	0	0	39	4	0

Variants in TTLL11

This is a list of pathogenic ClinVar variants found in the TTLL11 region.

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

Position	Type	Phenotype	Significance	ClinVar
9-121822636-C-T		not specified	Uncertain significance (Dec 14, 2023)
9-121822637-G-A		not specified	Likely benign (Jun 05, 2023)
9-121822696-C-T		not specified	Uncertain significance (May 29, 2024)
9-121822697-G-A		not specified	Uncertain significance (Oct 04, 2022)
9-121822708-C-T		not specified	Uncertain significance (Oct 17, 2023)
9-121822717-G-A		not specified	Uncertain significance (Aug 09, 2021)
9-121822720-G-A		not specified	Uncertain significance (Nov 14, 2023)
9-121822720-G-T		not specified	Uncertain significance (Aug 09, 2021)
9-121822724-C-T		not specified	Uncertain significance (Dec 01, 2022)
9-121822730-G-A		not specified	Uncertain significance (Dec 15, 2023)
9-121822733-C-A		not specified	Uncertain significance (Nov 08, 2024)
9-121822745-G-A		not specified	Uncertain significance (Feb 06, 2023)
9-121822762-G-T		not specified	Uncertain significance (Aug 10, 2021)
9-121822767-G-C		not specified	Uncertain significance (Jan 17, 2023)
9-121822862-A-C		not specified	Uncertain significance (Jan 20, 2023)
9-121860387-A-G		not specified	Uncertain significance (Dec 03, 2024)
9-121860405-G-A		not specified	Uncertain significance (Jan 23, 2024)
9-121860420-C-T		not specified	Uncertain significance (Nov 09, 2021)
9-121870509-C-T		not specified	Uncertain significance (Mar 26, 2024)
9-121870510-G-A		not specified	Uncertain significance (Mar 27, 2024)
9-121870558-G-A		not specified	Uncertain significance (Apr 25, 2022)
9-121870590-C-T		not specified	Uncertain significance (Jul 21, 2021)
9-121870737-A-G		not specified	Uncertain significance (Apr 17, 2023)
9-121974891-T-C		not specified	Uncertain significance (Nov 10, 2022)
9-121974913-G-A		not specified	Uncertain significance (Jun 29, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
TTLL11	protein_coding	protein_coding	ENST00000321582	9	271679

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
6.24e-9	0.664	125728	0	20	125748	0.0000795

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	2.03	308	426	0.723	0.0000243	5137
Missense in Polyphen		80	118.08	0.67749		1416
Synonymous	0.0191	180	180	0.998	0.0000108	1643
Loss of Function	1.30	16	22.7	0.705	9.66e-7	305

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000157	0.000152
Ashkenazi Jewish	0.00	0.00
East Asian	0.0000544	0.0000544
Finnish	0.00	0.00
European (Non-Finnish)	0.000106	0.000105
Middle Eastern	0.0000544	0.0000544
South Asian	0.0000984	0.0000980
Other	0.000165	0.000163

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Polyglutamase which preferentially modifies alpha- tubulin. Involved in the side-chain elongation step of the polyglutamylation reaction rather than in the initiation step (By similarity). Required for CCSAP localization to both spindle and cilia microtubules (PubMed:22493317). Generates long side-chains (By similarity). {ECO:0000250|UniProtKB:A4Q9F4, ECO:0000269|PubMed:22493317}.
• Pathway: Post-translational protein modification;Metabolism of proteins;Carboxyterminal post-translational modifications of tubulin (Consensus)

Intolerance Scores

• loftool: 0.497
• rvis_EVS: -0.27
• rvis_percentile_EVS: 34.6

Haploinsufficiency Scores

• pHI: 0.0901
• hipred: N
• hipred_score: 0.369
• ghis: 0.390

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.338

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Ttll11

Gene ontology

• Biological process: protein polyglutamylation;microtubule severing
• Cellular component: cytosol;microtubule;cilium
• Molecular function: ATP binding;tubulin-glutamic acid ligase activity