TTC33

tetratricopeptide repeat domain 33, the group of Tetratricopeptide repeat domain containing

Basic information

Region (hg38): 5:40512332-40755963

Links

ENSG00000113638 ∙ NCBI:23548 ∙ ∙ HGNC:29959 ∙ Uniprot:Q6PID6 ∙ 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 TTC33 gene.

• Inborn genetic diseases (12 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the TTC33 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			12			12
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	12	0	0

Variants in TTC33

This is a list of pathogenic ClinVar variants found in the TTC33 region.

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

Position	Type	Phenotype	Significance	ClinVar
5-40679743-A-G			Benign (Feb 18, 2020)
5-40681033-C-G		not specified	Uncertain significance (Sep 14, 2023)
5-40681249-C-T		not specified	Uncertain significance (Mar 31, 2023)
5-40681459-A-C		not specified	Uncertain significance (Jan 11, 2023)
5-40681524-C-A		not specified	Uncertain significance (Oct 12, 2021)
5-40681552-A-G		not specified	Uncertain significance (Jan 29, 2024)
5-40681591-G-A		not specified	Uncertain significance (Aug 03, 2022)
5-40681705-T-A		not specified	Uncertain significance (Sep 23, 2023)
5-40681715-A-C		not specified	Uncertain significance (Nov 05, 2021)
5-40681755-T-G		not specified	Uncertain significance (Aug 26, 2022)
5-40691791-G-A		not specified	Benign (Apr 17, 2015)
5-40691923-A-C		not specified	Uncertain significance (Nov 17, 2022)
5-40691982-G-T		not specified	Likely benign (Dec 21, 2023)
5-40692248-A-G		not specified	Uncertain significance (Jun 18, 2021)
5-40692292-G-A		not specified	Likely benign (Apr 07, 2022)
5-40716191-T-C		not specified	Uncertain significance (Mar 01, 2023)
5-40716323-T-C		not specified	Uncertain significance (Sep 22, 2023)
5-40716353-G-A		not specified	Uncertain significance (Jul 27, 2022)
5-40716377-T-C		not specified	Uncertain significance (Jul 12, 2023)
5-40716416-G-A		not specified	Uncertain significance (Oct 03, 2022)
5-40716429-A-G		not specified	Uncertain significance (Jan 23, 2024)
5-40728352-A-C		not specified	Uncertain significance (May 03, 2023)
5-40728377-G-A		not specified	Uncertain significance (Dec 13, 2021)
5-40728403-G-A		not specified	Uncertain significance (Aug 02, 2021)
5-40730338-C-T		not specified	Uncertain significance (Aug 15, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
TTC33	protein_coding	protein_coding	ENST00000337702	4	41501

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.000569	0.905	125353	0	395	125748	0.00157

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.149	135	140	0.965	0.00000687	1726
Missense in Polyphen		42	42.18	0.99574		509
Synonymous	-0.567	51	46.1	1.11	0.00000231	490
Loss of Function	1.48	7	12.7	0.551	6.07e-7	145

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00142	0.00140
Ashkenazi Jewish	0.00	0.00
East Asian	0.0000544	0.0000544
Finnish	0.00421	0.00421
European (Non-Finnish)	0.00232	0.00231
Middle Eastern	0.0000544	0.0000544
South Asian	0.00	0.00
Other	0.00100	0.000978

dbNSFP

Source: dbNSFP

Recessive Scores

• pRec: 0.105

Intolerance Scores

• loftool: 0.558
• rvis_EVS: 0.15
• rvis_percentile_EVS: 64.32

Haploinsufficiency Scores

• pHI: 0.175
• hipred: N
• hipred_score: 0.295
• ghis: 0.583

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: S
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.539

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Ttc33

Gene ontology

• Molecular function: protein binding