TTC27

tetratricopeptide repeat domain 27, the group of MicroRNA protein coding host genes|Tetratricopeptide repeat domain containing

Basic information

Region (hg38): 2:32628031-32821051

Links

ENSG00000018699 ∙ NCBI:55622 ∙ ∙ HGNC:25986 ∙ Uniprot:Q6P3X3 ∙ 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 TTC27 gene.

• Inborn genetic diseases (40 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the TTC27 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			37	3		40
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	37	3	0

Variants in TTC27

This is a list of pathogenic ClinVar variants found in the TTC27 region.

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

Position	Type	Phenotype	Significance	ClinVar
2-32628302-C-T		not specified	Uncertain significance (May 28, 2023)
2-32630523-A-G		not specified	Uncertain significance (Mar 16, 2022)
2-32630528-G-A		not specified	Uncertain significance (Jul 05, 2022)
2-32630568-C-T		not specified	Uncertain significance (Jun 22, 2021)
2-32630653-G-C		not specified	Uncertain significance (Jan 06, 2023)
2-32630694-C-T		not specified	Likely benign (May 31, 2023)
2-32633943-C-T		not specified	Uncertain significance (Dec 01, 2022)
2-32633950-T-C		not specified	Uncertain significance (Dec 01, 2022)
2-32633976-T-C		not specified	Likely benign (Feb 27, 2024)
2-32633977-C-T		not specified	Uncertain significance (Jan 27, 2022)
2-32640340-C-T		not specified	Likely benign (May 03, 2023)
2-32640384-G-A		not specified	Likely benign (May 02, 2023)
2-32650188-C-T		not specified	Uncertain significance (Aug 10, 2021)
2-32664326-G-T		not specified	Uncertain significance (Jun 30, 2022)
2-32664336-C-T		not specified	Uncertain significance (Aug 20, 2023)
2-32664375-C-T		not specified	Uncertain significance (Oct 12, 2021)
2-32664465-C-T		not specified	Uncertain significance (Mar 01, 2024)
2-32666655-C-T		not specified	Uncertain significance (Sep 13, 2023)
2-32666656-G-A		not specified	Uncertain significance (Feb 05, 2024)
2-32666685-A-G		not specified	Uncertain significance (Dec 14, 2023)
2-32666702-G-C		not specified	Uncertain significance (Sep 28, 2022)
2-32666721-A-C		not specified	Uncertain significance (Sep 20, 2023)
2-32666757-C-T		not specified	Uncertain significance (Feb 02, 2022)
2-32672278-G-A		not specified	Uncertain significance (Sep 14, 2023)
2-32672302-A-C		not specified	Uncertain significance (Sep 29, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
TTC27	protein_coding	protein_coding	ENST00000317907	20	193020

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
4.93e-14	0.996	125647	0	101	125748	0.000402

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.588	478	443	1.08	0.0000237	5489
Missense in Polyphen		112	108.69	1.0305		1225
Synonymous	-1.11	179	161	1.11	0.00000835	1571
Loss of Function	2.82	30	51.9	0.578	0.00000257	625

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000939	0.000938
Ashkenazi Jewish	0.00	0.00
East Asian	0.000496	0.000489
Finnish	0.00	0.00
European (Non-Finnish)	0.000533	0.000528
Middle Eastern	0.000496	0.000489
South Asian	0.000138	0.000131
Other	0.000654	0.000652

dbNSFP

Source: dbNSFP

Recessive Scores

• pRec: 0.226

Intolerance Scores

• rvis_EVS: -0.3
• rvis_percentile_EVS: 32.25

Haploinsufficiency Scores

• pHI: 0.0730
• hipred: N
• hipred_score: 0.478
• ghis: 0.608

Essentials

• essential_gene_CRISPR: E
• essential_gene_CRISPR2: E
• essential_gene_gene_trap: E
• gene_indispensability_pred: E
• gene_indispensability_score: 0.726

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Ttc27

Zebrafish Information Network

• Gene name: ttc27
• Affected structure: head
• Phenotype tag: abnormal
• Phenotype quality: pointed

Gene ontology

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