TTC9B

tetratricopeptide repeat domain 9B, the group of Tetratricopeptide repeat domain containing

Basic information

Region (hg38): 19:40216058-40218384

Links

ENSG00000174521 ∙ NCBI:148014 ∙ ∙ HGNC:26395 ∙ Uniprot:Q8N6N2 ∙ 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 TTC9B gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the TTC9B 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			7			7
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	7	0	0

Variants in TTC9B

This is a list of pathogenic ClinVar variants found in the TTC9B region.

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

Position	Type	Phenotype	Significance	ClinVar
19-40216224-C-T		not specified	Uncertain significance (Jan 23, 2023)
19-40217205-G-C		not specified	Uncertain significance (Aug 22, 2023)
19-40217328-G-T		not specified	Uncertain significance (Dec 28, 2022)
19-40217957-G-C		not specified	Uncertain significance (Nov 06, 2023)
19-40218113-C-T		not specified	Uncertain significance (Mar 29, 2022)
19-40218189-C-T		not specified	Uncertain significance (Apr 20, 2023)
19-40218281-C-T		not specified	Uncertain significance (May 09, 2024)
19-40218330-G-T		not specified	Uncertain significance (Jun 29, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
TTC9B	protein_coding	protein_coding	ENST00000311308	3	2342

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.216	0.749	101563	0	3	101566	0.0000148

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.49	73	119	0.616	0.00000603	1463
Missense in Polyphen		32	54.284	0.58949		585
Synonymous	-0.0161	55	54.8	1.00	0.00000265	537
Loss of Function	1.76	2	7.05	0.284	3.07e-7	86

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00	0.00
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.0000111	0.0000110
Middle Eastern	0.00	0.00
South Asian	0.0000761	0.0000757
Other	0.00	0.00

dbNSFP

Source: dbNSFP

Haploinsufficiency Scores

• pHI: 0.158
• hipred: N
• hipred_score: 0.459
• ghis: 0.679

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.108

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Ttc9b

Gene ontology

• Biological process: biological_process
• Cellular component: cellular_component
• Molecular function: molecular_function