TTLL13

tubulin tyrosine ligase like 13, the group of Tubulin tyrosine ligase family

Basic information

Region (hg38): 15:90249530-90265482

Previous symbols: [ "TTLL13P" ]

Links

ENSG00000213471 ∙ NCBI:440307 ∙ ∙ HGNC:32484 ∙ Uniprot:A6NNM8 ∙ 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 TTLL13 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the TTLL13 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						0
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	0	0	0

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
TTLL13	protein_coding	protein_coding	ENST00000339615	9	15438

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
5.65e-12	0.209	125507	2	238	125747	0.000955

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.708	241	274	0.880	0.0000167	3014
Missense in Polyphen		56	68.284	0.8201		778
Synonymous	1.42	82	100	0.820	0.00000535	871
Loss of Function	0.871	20	24.7	0.811	0.00000148	268

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000829	0.000828
Ashkenazi Jewish	0.0000993	0.0000992
East Asian	0.00288	0.00289
Finnish	0.00	0.00
European (Non-Finnish)	0.000581	0.000580
Middle Eastern	0.00288	0.00289
South Asian	0.00315	0.00304
Other	0.000655	0.000652

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Polyglutamylase which preferentially modifies alpha- tubulin. Involved in the side-chain elongation step of the polyglutamylation reaction rather than in the initiation step (By similarity). {ECO:0000250|UniProtKB:A4Q9F6}.
• Pathway: Post-translational protein modification;Metabolism of proteins;Carboxyterminal post-translational modifications of tubulin (Consensus)

Intolerance Scores

• rvis_EVS: -0.47
• rvis_percentile_EVS: 23.51

Haploinsufficiency Scores

• pHI: 0.133
• hipred: N
• hipred_score: 0.180
• ghis: 0.411

Essentials

• essential_gene_gene_trap: N

Mouse Genome Informatics

• Gene name: Ttll13

Gene ontology

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