TEX11
Basic information
Region (hg38): X:70528939-70908711
Links
Phenotypes
GenCC
Source:
- male infertility with azoospermia or oligozoospermia due to single gene mutation (Supportive), mode of inheritance: AD
- spermatogenic failure, X-linked, 2 (Moderate), mode of inheritance: XL
- spermatogenic failure, X-linked, 2 (Strong), mode of inheritance: XL
Clinical Genomic Database
Source:
Condition | Inheritance | Intervention Categories | Intervention/Rationale | Manifestation Categories | References |
---|---|---|---|---|---|
Spermatogenic failure, X-linked 2 | XL | General | Genetic knowledge may be beneficial related to issues such as selection of optimal supportive care, informed medical decision-making, prognostic considerations, and avoidance of unnecessary testing | Genitourinary | 25970010 |
ClinVar
This is a list of variants' phenotypes submitted to
- Inborn genetic diseases (19 variants)
- not provided (18 variants)
- Non-obstructive azoospermia (7 variants)
- not specified (3 variants)
- Spermatogenic failure, X-linked, 2 (3 variants)
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the TEX11 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 | 2 | |||||
missense | 20 | 28 | ||||
nonsense | 1 | |||||
start loss | 0 | |||||
frameshift | 3 | |||||
inframe indel | 0 | |||||
splice donor/acceptor (+/-2bp) | 2 | |||||
splice region ? | 3 | 1 | 4 | |||
non coding ? | 0 | |||||
Total | 7 | 0 | 20 | 5 | 4 |
Variants in TEX11
This is a list of pathogenic ClinVar variants found in the TEX11 region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
Position | Type | Phenotype | Significance | ClinVar |
---|---|---|---|---|
X-70529119-A-C | Inborn genetic diseases | Uncertain significance (Sep 01, 2021) | ||
X-70529120-T-C | Inborn genetic diseases | Uncertain significance (Dec 27, 2022) | ||
X-70529854-T-C | Uncertain significance (Sep 01, 2023) | |||
X-70529906-C-T | Inborn genetic diseases | Uncertain significance (Jan 03, 2024) | ||
X-70529946-G-A | Likely benign (Feb 01, 2024) | |||
X-70529952-C-A | Non-obstructive azoospermia | Pathogenic (-) | ||
X-70552150-A-C | Benign (Dec 14, 2018) | |||
X-70552150-A-G | TEX11-related disorder | Benign (Mar 27, 2019) | ||
X-70552182-G-C | Uncertain significance (Feb 01, 2020) | |||
X-70552198-C-T | TEX11-related disorder | Likely benign (Mar 06, 2019) | ||
X-70552201-C-T | TEX11-related disorder | Likely benign (Apr 01, 2019) | ||
X-70553312-T-C | Likely benign (Mar 01, 2024) | |||
X-70553329-T-A | Inborn genetic diseases | Uncertain significance (Aug 15, 2023) | ||
X-70553405-A-G | Inborn genetic diseases | Uncertain significance (Oct 27, 2022) | ||
X-70553406-T-C | Inborn genetic diseases | Uncertain significance (Jul 09, 2021) | ||
X-70554643-G-T | Likely benign (May 07, 2018) | |||
X-70554698-A-G | not specified | Benign/Likely benign (May 04, 2022) | ||
X-70554699-C-A | Inborn genetic diseases | Uncertain significance (Sep 26, 2023) | ||
X-70605421-C-T | Spermatogenic failure, X-linked, 2 • not specified | Conflicting classifications of pathogenicity (Feb 21, 2024) | ||
X-70609156-G-C | Inborn genetic diseases | Uncertain significance (Oct 25, 2022) | ||
X-70610514-C-T | Inborn genetic diseases | Conflicting classifications of pathogenicity (Nov 27, 2023) | ||
X-70623948-A-C | Non-obstructive azoospermia | Pathogenic (-) | ||
X-70629626-G-C | Likely benign (Nov 01, 2022) | |||
X-70629688-A-G | Inborn genetic diseases | Uncertain significance (Oct 16, 2023) | ||
X-70629708-T-G | Inborn genetic diseases | Uncertain significance (Jul 13, 2022) |
GnomAD
Source:
Gene | Type | Bio Type | Transcript | Coding Exons | Length |
---|---|---|---|---|---|
TEX11 | protein_coding | protein_coding | ENST00000395889 | 29 | 379792 |
pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
---|---|---|---|---|---|---|
1.00 | 0.00000171 | 0 | 0 | 0 | 0 | 0.00 |
Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
---|---|---|---|---|---|---|
Missense | 1.81 | 204 | 291 | 0.701 | 0.0000205 | 6233 |
Missense in Polyphen | 21 | 61.514 | 0.34138 | 1438 | ||
Synonymous | -1.69 | 122 | 100 | 1.21 | 0.00000724 | 1631 |
Loss of Function | 5.64 | 0 | 37.1 | 0.00 | 0.00000262 | 745 |
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) | 0.00 | 0.00 |
Middle Eastern | 0.00 | 0.00 |
South Asian | 0.00 | 0.00 |
Other | 0.00 | 0.00 |
dbNSFP
Source:
- Function
- FUNCTION: Regulator of crossing-over during meiosis. Involved in initiation and/or maintenance of chromosome synapsis and formation of crossovers. {ECO:0000250|UniProtKB:Q14AT2}.;
Recessive Scores
- pRec
- 0.0813
Intolerance Scores
- loftool
- rvis_EVS
- -0.44
- rvis_percentile_EVS
- 24.46
Haploinsufficiency Scores
- pHI
- 0.110
- hipred
- N
- hipred_score
- 0.466
- ghis
- 0.420
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- N
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- N
- gene_indispensability_score
- 0.149
Gene Damage Prediction
All | Recessive | Dominant | |
---|---|---|---|
Mendelian | Medium | Medium | Medium |
Primary Immunodeficiency | Medium | Medium | Medium |
Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Tex11
- Phenotype
- cellular phenotype; endocrine/exocrine gland phenotype; reproductive system phenotype;
Gene ontology
- Biological process
- resolution of meiotic recombination intermediates;meiotic gene conversion;male meiosis chromosome segregation;synaptonemal complex assembly;reciprocal meiotic recombination;male gonad development;fertilization;negative regulation of apoptotic process;chiasma assembly
- Cellular component
- synaptonemal complex;central element
- Molecular function
- protein binding