TTC6

tetratricopeptide repeat domain 6, the group of Tetratricopeptide repeat domain containing

Basic information

Region (hg38): 14:37595629-38041442

Previous symbols: [ "NCRNA00291", "C14orf25" ]

Links

ENSG00000139865 ∙ NCBI:319089 ∙ ∙ HGNC:19739 ∙ Uniprot:Q86TZ1 ∙ 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 TTC6 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the TTC6 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				3		3
missense				2		2
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)				1		1
splice region						0
non coding						0
Total	0	0	0	6	0

Variants in TTC6

This is a list of pathogenic ClinVar variants found in the TTC6 region.

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

Position	Type	Phenotype	Significance	ClinVar
14-37622748-C-T			Likely benign (Aug 01, 2022)
14-37749343-G-A			Likely benign (Sep 01, 2023)
14-37749343-G-T			Likely benign (Apr 01, 2024)
14-37787475-C-T		Meckel-Gruber syndrome	Uncertain significance (-)
14-37807427-T-C			Likely benign (Jan 01, 2023)
14-37826179-TGGAAAATTATTTTAGGCCCAA-T			Likely benign (Mar 01, 2023)
14-37842213-T-C			Likely benign (May 01, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
TTC6	protein_coding	protein_coding	ENST00000553443	31	445596

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
1.06e-25	0.909	123636	4	876	124516	0.00354

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.732	815	876	0.930	0.0000448	12368
Missense in Polyphen		237	258.23	0.91778		3793
Synonymous	1.45	291	324	0.898	0.0000168	3471
Loss of Function	2.67	52	77.3	0.672	0.00000380	1219

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00390	0.00380
Ashkenazi Jewish	0.000842	0.000695
East Asian	0.000230	0.000217
Finnish	0.00236	0.00227
European (Non-Finnish)	0.00643	0.00602
Middle Eastern	0.000230	0.000217
South Asian	0.00147	0.00127
Other	0.00484	0.00426

dbNSFP

Source: dbNSFP

Recessive Scores

• pRec: 0.0873

Haploinsufficiency Scores

• pHI: 0.0630
• hipred: N
• hipred_score: 0.139
• ghis: 0.388

Essentials

• essential_gene_CRISPR2: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.0153

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Ttc6