TTC32

tetratricopeptide repeat domain 32, the group of Tetratricopeptide repeat domain containing

Basic information

Region (hg38): 2:19896631-19901983

Links

ENSG00000183891 ∙ NCBI:130502 ∙ ∙ HGNC:32954 ∙ Uniprot:Q5I0X7 ∙ 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 TTC32 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the TTC32 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 TTC32

This is a list of pathogenic ClinVar variants found in the TTC32 region.

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

Position	Type	Phenotype	Significance	ClinVar
2-19897018-T-C		not specified	Uncertain significance (Oct 01, 2024)
2-19897034-G-C		not specified	Uncertain significance (Jul 27, 2021)
2-19897043-G-C		not specified	Uncertain significance (Dec 01, 2022)
2-19897070-A-G		not specified	Uncertain significance (May 25, 2023)
2-19897930-T-C		not specified	Uncertain significance (Nov 30, 2022)
2-19897949-T-C		not specified	Uncertain significance (Dec 05, 2022)
2-19897995-T-C		not specified	Uncertain significance (Dec 27, 2023)
2-19897997-T-C		not specified	Uncertain significance (Aug 01, 2023)
2-19901731-C-T		not specified	Uncertain significance (Oct 28, 2024)
2-19901746-G-A		not specified	Uncertain significance (Aug 02, 2021)
2-19901758-C-T		not specified	Uncertain significance (May 24, 2024)
2-19901767-G-C		not specified	Uncertain significance (Feb 10, 2022)
2-19901771-C-G		not specified	Uncertain significance (Dec 07, 2024)
2-19901776-C-A		not specified	Uncertain significance (Aug 12, 2022)
2-19901790-C-T		not specified	Uncertain significance (Sep 03, 2024)
2-19901798-G-T		not specified	Uncertain significance (Dec 14, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
TTC32	protein_coding	protein_coding	ENST00000333610	3	5344

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0311	0.825	125730	0	15	125745	0.0000596

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.602	92	77.1	1.19	0.00000330	989
Missense in Polyphen		28	26.043	1.0752		347
Synonymous	-1.44	41	30.8	1.33	0.00000138	265
Loss of Function	1.14	3	6.01	0.499	2.52e-7	81

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000175	0.000175
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.0000982	0.0000967
Middle Eastern	0.00	0.00
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

Recessive Scores

• pRec: 0.0569

Intolerance Scores

• loftool: 0.657
• rvis_EVS: -0.12
• rvis_percentile_EVS: 44.89

Haploinsufficiency Scores

• pHI: 0.0378
• hipred: N
• hipred_score: 0.171
• ghis: 0.528

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.296

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Ttc32

Gene ontology

• Molecular function: protein binding