TTC36

tetratricopeptide repeat domain 36, the group of Tetratricopeptide repeat domain containing

Basic information

Region (hg38): 11:118527472-118531197

Links

ENSG00000172425 ∙ NCBI:143941 ∙ ∙ HGNC:33708 ∙ Uniprot:A6NLP5 ∙ 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 TTC36 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the TTC36 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			17			17
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	17	0	0

Variants in TTC36

This is a list of pathogenic ClinVar variants found in the TTC36 region.

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

Position	Type	Phenotype	Significance	ClinVar
11-118527510-G-A		not specified	Uncertain significance (Jan 26, 2022)
11-118527513-C-G		not specified	Uncertain significance (Feb 11, 2022)
11-118527579-G-A		not specified	Uncertain significance (Jul 21, 2021)
11-118527582-G-A		not specified	Uncertain significance (Feb 17, 2022)
11-118527595-A-C		not specified	Uncertain significance (Sep 14, 2021)
11-118528603-A-T		not specified	Uncertain significance (Sep 16, 2021)
11-118528636-C-T		not specified	Uncertain significance (Nov 17, 2022)
11-118528656-G-C		not specified	Uncertain significance (Dec 09, 2023)
11-118528698-G-A		not specified	Uncertain significance (Jan 05, 2022)
11-118528768-G-A		not specified	Uncertain significance (Mar 22, 2023)
11-118530657-C-T		not specified	Uncertain significance (Sep 22, 2023)
11-118530698-C-T		not specified	Uncertain significance (Jan 23, 2024)
11-118530699-G-T		not specified	Uncertain significance (Mar 22, 2023)
11-118530770-G-A		not specified	Uncertain significance (Jan 17, 2024)
11-118530819-G-A		not specified	Uncertain significance (Nov 10, 2022)
11-118530864-G-T		not specified	Uncertain significance (Aug 17, 2021)
11-118530902-C-T		not specified	Uncertain significance (Dec 28, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
TTC36	protein_coding	protein_coding	ENST00000302783	3	3726

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.000223	0.524	125737	0	11	125748	0.0000437

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.0452	84	85.2	0.986	0.00000435	1180
Missense in Polyphen		23	31.613	0.72755		448
Synonymous	0.702	31	36.4	0.852	0.00000181	411
Loss of Function	0.430	6	7.25	0.828	4.92e-7	70

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000879	0.0000879
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.0000924	0.0000462
European (Non-Finnish)	0.00000879	0.00000879
Middle Eastern	0.00	0.00
South Asian	0.000204	0.000196
Other	0.00	0.00

dbNSFP

Source: dbNSFP

Recessive Scores

• pRec: 0.108

Haploinsufficiency Scores

• pHI: 0.183
• hipred: N
• hipred_score: 0.279
• ghis: 0.442

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.307

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Ttc36

Zebrafish Information Network

• Gene name: ttc36
• Affected structure: otolith
• Phenotype tag: abnormal
• Phenotype quality: morphology

Gene ontology

• Biological process: cilium assembly