TTLL7

tubulin tyrosine ligase like 7, the group of Tubulin tyrosine ligase family

Basic information

Region (hg38): 1:83865024-83999150

Links

ENSG00000137941 ∙ NCBI:79739 ∙ OMIM:618813 ∙ HGNC:26242 ∙ Uniprot:Q6ZT98 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Transcripts

Transcript IDs starting with ENST are treated as Ensembl, all others as RefSeq. Showing 4 of 14.

Transcript ID	Protein ID	Coding exons	MANE Select	MANE Plus Clinical
NM_024686.6	NP_078962.4	20	yes	-
ENST00000260505.13	ENSP00000260505.8	20	yes	-
NM_001350214.2	NP_001337143.1	20	-	-
NM_001350215.2	NP_001337144.1	19	-	-

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the TTLL7 gene.

• not_specified (94 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the TTLL7 gene is commonly pathogenic or not. These statistics are base on transcript: NM_024686.6. 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		2
missense			91	2		93
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			2			2
Total	0	0	94	3	0

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
TTLL7	protein_coding	protein_coding	ENST00000260505	20	134123

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
		125683	0	58	125741	0.000231

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	2.58	316	474	0.667	0.0000250	5823
Missense in Polyphen		55	143.08	0.38441		1698
Synonymous	-0.135	160	158	1.01	0.00000752	1607
Loss of Function	5.04	16	57.0	0.280	0.00000343	653

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000470	0.000469
Ashkenazi Jewish	0.00189	0.00189
East Asian	0.0000546	0.0000544
Finnish	0.000139	0.000139
European (Non-Finnish)	0.0000972	0.0000967
Middle Eastern	0.0000546	0.0000544
South Asian	0.000164	0.000163
Other	0.000826	0.000815

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Polyglutamylase which preferentially modifies beta- tubulin (PubMed:25959773). Mediates both ATP-dependent initiation and elongation of polyglutamylation of microtubules (PubMed:25959773). Required for neurite growth; responsible for the strong increase in tubulin polyglutamylation during postnatal neuronal maturation (By similarity). {ECO:0000250|UniProtKB:A4Q9F0, ECO:0000269|PubMed:25959773}.
• Pathway: Post-translational protein modification;Metabolism of proteins;Carboxyterminal post-translational modifications of tubulin (Consensus)

Recessive Scores

• pRec: 0.0943

Intolerance Scores

• loftool: 0.587
• rvis_EVS: -0.75
• rvis_percentile_EVS: 13.58

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.391

Gene Damage Prediction

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

Gene ontology

• Biological process: nervous system development;protein polyglutamylation;cell differentiation
• Cellular component: cytosol;microtubule;cilium;dendrite;perikaryon
• Molecular function: ATP binding;alpha-tubulin binding;beta-tubulin binding;tubulin-glutamic acid ligase activity