TTC17

tetratricopeptide repeat domain 17, the group of Tetratricopeptide repeat domain containing

Basic information

Region (hg38): 11:43358920-43494933

Links

ENSG00000052841 ∙ NCBI:55761 ∙ OMIM:619388 ∙ HGNC:25596 ∙ Uniprot:Q96AE7 ∙ 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 TTC17 gene.

• not_specified (126 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the TTC17 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000018259.6. Only rare variants are included in the table.

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.

Effect	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous			3			3
missense			125	4		129
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			9			9
Total	0	0	137	4	0

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
TTC17	protein_coding	protein_coding	ENST00000039989	24	136002

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
1.00	0.0000372	125724	0	21	125745	0.0000835

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.30	527	618	0.852	0.0000321	7511
Missense in Polyphen		135	207.12	0.65179		2540
Synonymous	-0.258	232	227	1.02	0.0000120	2140
Loss of Function	6.49	8	64.1	0.125	0.00000334	741

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000905	0.0000905
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.000139	0.000139
European (Non-Finnish)	0.000115	0.000114
Middle Eastern	0.00	0.00
South Asian	0.000101	0.0000980
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Plays a role in primary ciliogenesis by modulating actin polymerization. {ECO:0000269|PubMed:24475127}.

Recessive Scores

• pRec: 0.0895

Intolerance Scores

• loftool: 0.227
• rvis_EVS: -1.61
• rvis_percentile_EVS: 2.95

Haploinsufficiency Scores

• pHI: 0.425
• hipred: N
• hipred_score: 0.466
• ghis: 0.597

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.142

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Ttc17

Zebrafish Information Network

• Gene name: ttc17
• Affected structure: whole organism
• Phenotype tag: abnormal
• Phenotype quality: curved

Gene ontology

• Biological process: actin filament polymerization;cilium organization
• Cellular component: cytoplasm;cytosol;plasma membrane;actin cytoskeleton
• Molecular function: protein binding