TTC38
protein-codingtetratricopeptide repeat domain 38, the group of Tetratricopeptide repeat domain containing
Gene summary
Located in extracellular exosome. [provided by Alliance of Genome Resources, Jul 2025]
MANE transcript
Inheritance
ClinVar variants
Top phenotype
gnomAD constraint
Max pathogenic AF
Genomic locus
External References & Databases
Transcript & Mutation Effects
hg38 • Region Span ~26.0 kbGenCC Phenotypes & Disease Associations
Curated gene-disease validity assertions and inheritance patterns
No GenCC data available for this gene.
ClinVar Associated Diseases & Phenotypes
Reported disease conditions connected to TTC38 variants in ClinVar
ClinVar Variants & Pathogenicity by Type
Statistics based on transcript NM_017931.4. Only rare variants are included.
We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.
Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.
| Effect | PathogenicP | Likely pathogenicLP | VUS | Likely benignLB | BenignB | Sum |
|---|---|---|---|---|---|---|
| synonymous | 0 | |||||
| missense | 81 | 5 | 86 | |||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| splice donor/acceptor (+/-2bp) | 5 | 5 | ||||
| Total | 0 | 0 | 86 | 5 | 0 | 91 |
Transcript Catalog
Annotated transcript isoforms across RefSeq and Ensembl databases
| Transcript ID | Source | Protein ID | Coding Exons | MANE Status |
|---|---|---|---|---|
| RefSeq | NP_060401.3 | 14 | MANE Select | |
| Ensembl | ENSP00000370419.3 | 14 | MANE Select | |
| Ensembl | ENSP00000391236.1 | 3 | Standard | |
| Ensembl | ENSP00000410095.1 | 7 | Standard |
Gene Ontology (GO) Annotations & Pathways
Biological processes, molecular functions, cellular components and pathways
Cellular Component
- extracellular exosome
gnomAD Constraint
Source:
- Gene type
- protein_coding
- Transcript type
- protein_coding
- Transcript
- ENST00000381031
- Coding exons
- 14
- Length
- 26048
- Individuals with no LoFs
- 123881
- Homozygous LoFs
- 18
- Heterozygous LoFs
- 991
- Defined
- 124890
- p
- 0.00405
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible | |
|---|---|---|---|---|---|---|
| Missense | 0.406 | 275 | 295 | 0.933 | 0.0000183 | 3058 |
| Missense (PolyPhen) | 71 | 78.665 | 0.90256 | 728 | ||
| Synonymous | 0.657 | 116 | 125 | 0.925 | 0.00000880 | 914 |
| Loss of Function | 1.12 | 23 | 29.6 | 0.777 | 0.00000160 | 301 |
Population LoF Frequency
| Population | CAF | p-value | Status |
|---|---|---|---|
| African | 0.00065 | 0.00064 | rare |
| Latino/Admixed American | 0.00084 | 0.00084 | rare |
| Ashkenazi Jewish | 0 | 0.0 | absent |
| East Asian | 0.012 | 0.012 | notable |
| Finnish | 0.00051 | 0.00051 | rare |
| European (Non-Finnish) | 0.00044 | 0.00044 | rare |
| South Asian | 0.023 | 0.022 | notable |
| Other | 0.0028 | 0.0026 | notable |
dbNSFP Gene Annotations
Source:
Recessive Scores
- pRec
- 0.0980
Intolerance Scores
- RVIS EVS
- 0.91
- RVIS percentile EVS
- 89.54
Essentials
- Essential (CRISPR)
- N
- Essential (CRISPR2)
- N
- Essential (gene trap)
- N
- Indispensability pred.
- N
- Indispensability score
- 0.0245
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |