TTC6

Gene

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

Gene summary

No gene description available in the current model. Review primary literature for detailed gene function and characteristics.

Previous symbols:

NCRNA00291
C14orf25

MANE transcript

NM_001310135.5

Inheritance

—

ClinVar variants

U:4B:6

Top phenotype

Meckel-Gruber syndrome

gnomAD constraint

pLI —, LoF o/e 0.67

Max pathogenic AF

—

Genomic locus

chr14:37,595,629-38,041,442

External References & Databases

Ensembl (ENSG00000139865)

Transcript & Mutation Effects

hg38 • Region Span ~445.8 kb

Loading mutation effect viewer...

GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

No GenCC data available for this gene.

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to TTC6 variants in ClinVar

2 Conditions Cataloged

not providedTotal: 9

Meckel-Gruber syndromeTotal: 1

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_001310135.5. Only rare variants are included.

We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.

Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.

Effect	PathogenicP	Likely pathogenicLP	VUS	Likely benignLB	BenignB	Sum
synonymous				3 clinvar		3
missense			2 clinvar	2 clinvar		4
nonsense			2 clinvar			2
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)				1 clinvar		1
Total	0	0	4	6	0	10

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 30 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_001310135.5	RefSeq	NP_001297064.2	31	MANE Select
ENST00000553443.6	Ensembl	ENSP00000451131.1	31	MANE Select
NM_001368142.2	RefSeq	NP_001355071.1	11	Standard
ENST00000267368.11	Ensembl	ENSP00000267368.7	11	Standard

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000553443
Coding exons: 31
Length: 445596
Individuals with no LoFs: 123636
Homozygous LoFs: 4
Heterozygous LoFs: 876
Defined: 124516
p: 0.00354

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	0.732	815	876	0.930	0.0000448	12368
Missense (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

Population LoF Frequency

Population	CAF	p-value	Status
African	0.0020	0.0018	notable
Latino/Admixed American	0.0019	0.0016	notable
Ashkenazi Jewish	0.00084	0.00070	rare
East Asian	0.00023	0.00022	rare
Finnish	0.0024	0.0023	notable
European (Non-Finnish)	0.0064	0.0060	notable
South Asian	0.0015	0.0013	notable
Other	0.0048	0.0043	notable

dbNSFP Gene Annotations

Source: dbNSFP

Recessive Scores

pRec: 0.0873

Essentials

Essential (CRISPR2): N
Indispensability pred.: N
Indispensability score: 0.0153

Gene Damage Prediction

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