TEX13B
protein-codingtestis expressed 13B
Gene summary
This gene is similar to a mouse gene that is expressed in the testis. [provided by RefSeq, Jul 2008]
MANE transcript
Inheritance
ClinVar variants
Top phenotype
gnomAD constraint
Max pathogenic AF
Genomic locus
External References & Databases
Transcript & Mutation Effects
hg38 • Region Span ~1.5 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 TEX13B variants in ClinVar
ClinVar Variants & Pathogenicity by Type
Statistics based on transcript NM_031273.2. 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 | 26 | 26 | ||||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| splice donor/acceptor (+/-2bp) | 0 | |||||
| Total | 0 | 0 | 26 | 0 | 0 | 26 |
Transcript Catalog
Annotated transcript isoforms across RefSeq and Ensembl databases
| Transcript ID | Source | Protein ID | Coding Exons | MANE Status |
|---|---|---|---|---|
| RefSeq | NP_112563.1 | 2 | MANE Select | |
| Ensembl | ENSP00000303777.1 | 2 | MANE Select |
gnomAD Constraint
Source:
- Gene type
- protein_coding
- Transcript type
- protein_coding
- Transcript
- ENST00000302917
- Coding exons
- 2
- Length
- 1507
- Individuals with no LoFs
- 124195
- Homozygous LoFs
- 476
- Heterozygous LoFs
- 936
- Defined
- 125607
- p
- 0.00564
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible | |
|---|---|---|---|---|---|---|
| Missense | 0.539 | 112 | 129 | 0.867 | 0.0000104 | 2020 |
| Missense (PolyPhen) | 27 | 26.485 | 1.0195 | 493 | ||
| Synonymous | -0.148 | 58 | 56.6 | 1.02 | 0.00000500 | 647 |
| Loss of Function | 0.432 | 3 | 3.92 | 0.764 | 2.49e-7 | 67 |
Population LoF Frequency
| Population | CAF | p-value | Status |
|---|---|---|---|
| African | 0.029 | 0.023 | notable |
| Latino/Admixed American | 0.0028 | 0.0022 | notable |
| Ashkenazi Jewish | 0.0042 | 0.0031 | notable |
| East Asian | 0.00015 | 0.00011 | rare |
| Finnish | 0.0019 | 0.0014 | notable |
| European (Non-Finnish) | 0.010 | 0.0072 | notable |
| South Asian | 0.0031 | 0.0019 | notable |
| Other | 0.0072 | 0.0052 | notable |
dbNSFP Gene Annotations
Source:
Intolerance Scores
- LoFtool
- 0.261
- RVIS EVS
- 0.95
- RVIS percentile EVS
- 89.96
Essentials
- Essential (CRISPR)
- N
- Essential (CRISPR2)
- N
- Essential (gene trap)
- N
- Indispensability pred.
- N
- Indispensability score
- 0.114
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |