TTC14

tetratricopeptide repeat domain 14, the group of Tetratricopeptide repeat domain containing

Basic information

Region (hg38): 3:180602162-180617828

Links

ENSG00000163728 ∙ NCBI:151613 ∙ ∙ HGNC:24697 ∙ Uniprot:Q96N46 ∙ 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 TTC14 gene.

• Primary ciliary dyskinesia (104 variants)
• Primary ciliary dyskinesia 14 (56 variants)
• Inborn genetic diseases (36 variants)
• not provided (16 variants)
• not specified (13 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the TTC14 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			28	2		30
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding	13	3	66	38	11	131
Total	13	3	94	40	11

Highest pathogenic variant AF is 0.0000329

Variants in TTC14

This is a list of pathogenic ClinVar variants found in the TTC14 region.

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

Position	Type	Phenotype	Significance	ClinVar
3-180602297-C-G		not specified	Uncertain significance (Nov 30, 2021)
3-180602344-A-G		not specified	Uncertain significance (Oct 12, 2021)
3-180602910-A-G		not specified	Uncertain significance (Jun 13, 2023)
3-180602935-C-T		not specified	Uncertain significance (Apr 07, 2022)
3-180602983-C-T		not specified	Uncertain significance (Sep 14, 2022)
3-180602997-A-C		not specified	Uncertain significance (Dec 20, 2023)
3-180603009-A-G		not specified	Uncertain significance (Oct 26, 2021)
3-180603109-A-AT		TTC14-related disorder	Benign (Sep 23, 2019)
3-180603130-A-G		not specified	Uncertain significance (Nov 10, 2022)
3-180603174-A-G		not specified	Uncertain significance (Dec 08, 2023)
3-180603199-G-A		not specified	Uncertain significance (Dec 19, 2022)
3-180603243-A-G		not specified	Uncertain significance (Nov 10, 2022)
3-180603295-T-A		not specified	Uncertain significance (Dec 17, 2023)
3-180603306-G-A		not specified	Uncertain significance (Dec 06, 2023)
3-180604857-G-A		not specified	Uncertain significance (May 03, 2023)
3-180604857-G-C		not specified	Uncertain significance (Oct 25, 2022)
3-180604940-G-C		not specified	Uncertain significance (Mar 03, 2022)
3-180604953-A-G		not specified	Likely benign (Aug 09, 2021)
3-180605796-T-C		TTC14-related disorder	Benign (Jul 12, 2019)
3-180606262-C-T		TTC14-related disorder	Likely benign (Nov 21, 2019)
3-180606487-G-A		TTC14-related disorder	Benign (Sep 18, 2019)
3-180606574-C-T		TTC14-related disorder	Likely benign (Aug 12, 2019)
3-180606587-G-A		not specified	Uncertain significance (Jan 29, 2024)
3-180608750-A-C		not specified	Uncertain significance (Apr 14, 2022)
3-180608773-G-A		not specified	Uncertain significance (May 25, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
TTC14	protein_coding	protein_coding	ENST00000296015	12	15699

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
1.18e-9	0.984	125628	0	120	125748	0.000477

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.299	371	388	0.957	0.0000189	5045
Missense in Polyphen		81	102.62	0.78933		1271
Synonymous	-0.142	139	137	1.02	0.00000657	1388
Loss of Function	2.33	20	34.8	0.575	0.00000161	518

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00107	0.00105
Ashkenazi Jewish	0.00	0.00
East Asian	0.000222	0.000217
Finnish	0.000878	0.000878
European (Non-Finnish)	0.000544	0.000536
Middle Eastern	0.000222	0.000217
South Asian	0.000304	0.000294
Other	0.000327	0.000326

dbNSFP

Source: dbNSFP

• Pathway: Ectoderm Differentiation (Consensus)

Recessive Scores

• pRec: 0.104

Intolerance Scores

• loftool: 0.526
• rvis_EVS: -0.02
• rvis_percentile_EVS: 52.25

Haploinsufficiency Scores

• pHI: 0.102
• hipred: Y
• hipred_score: 0.715
• ghis: 0.604

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.936

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Ttc14

Gene ontology

• Molecular function: nucleic acid binding