STRC
Basic information
Region (hg38): 15:43599563-43618800
Previous symbols: [ "DFNB16" ]
Links
Phenotypes
GenCC
Source:
- autosomal recessive nonsyndromic hearing loss 16 (Strong), mode of inheritance: AR
- autosomal recessive nonsyndromic hearing loss 16 (Strong), mode of inheritance: AR
- hearing loss, autosomal recessive (Supportive), mode of inheritance: AR
- nonsyndromic genetic hearing loss (Definitive), mode of inheritance: AR
Clinical Genomic Database
Source:
| Condition | Inheritance | Intervention Categories | Intervention/Rationale | Manifestation Categories | References |
|---|---|---|---|---|---|
| Deafness, autosomal recessive 16 | AR | Audiologic/Otolaryngologic | Early recognition and treatment of hearing impairment may improve outcomes, including speech and language development | Audiologic/Otolaryngologic | 9429146; 10090914; 11687802; 21686705; 19246478 |
ClinVar
This is a list of variants' phenotypes submitted to
- Autosomal recessive nonsyndromic hearing loss 16 (15 variants)
- Rare genetic deafness (14 variants)
- not provided (4 variants)
- Nonsyndromic genetic hearing loss (1 variants)
- STRC-related disorder (1 variants)
- Deafness-infertility syndrome;Spermatogenic failure 7;Autosomal recessive nonsyndromic hearing loss 16 (1 variants)
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the STRC 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 | 14 | 19 | ||||
| missense | 101 | 119 | ||||
| nonsense | 16 | 23 | ||||
| start loss | 0 | |||||
| frameshift | 14 | |||||
| inframe indel | 2 | |||||
| splice donor/acceptor (+/-2bp) | 4 | |||||
| splice region | 2 | 3 | 4 | 1 | 10 | |
| non coding | 13 | 21 | ||||
| Total | 24 | 22 | 102 | 30 | 24 |
Highest pathogenic variant AF is 0.000105
Variants in STRC
This is a list of pathogenic ClinVar variants found in the STRC region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
GnomAD
Source:
| Gene | Type | Bio Type | Transcript | Coding Exons | Length |
|---|---|---|---|---|---|
| STRC | protein_coding | protein_coding | ENST00000450892 | 29 | 118863 |
| pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
|---|---|---|---|---|---|---|
| 1.77e-15 | 0.926 | 125552 | 0 | 196 | 125748 | 0.000780 |
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
|---|---|---|---|---|---|---|
| Missense | 1.27 | 374 | 450 | 0.832 | 0.0000234 | 11026 |
| Missense in Polyphen | 135 | 173.86 | 0.7765 | 4818 | ||
| Synonymous | 1.71 | 151 | 180 | 0.838 | 0.00000845 | 3952 |
| Loss of Function | 2.23 | 31 | 47.6 | 0.651 | 0.00000273 | 838 |
LoF frequencies by population
| Ethnicity | Sum of pLOFs | p |
|---|---|---|
| African & African-American | 0.00170 | 0.00168 |
| Ashkenazi Jewish | 0.00 | 0.00 |
| East Asian | 0.000330 | 0.000326 |
| Finnish | 0.000278 | 0.000277 |
| European (Non-Finnish) | 0.000849 | 0.000844 |
| Middle Eastern | 0.000330 | 0.000326 |
| South Asian | 0.00127 | 0.00127 |
| Other | 0.000816 | 0.000815 |
dbNSFP
Source:
- Function
- FUNCTION: Essential to the formation of horizontal top connectors between outer hair cell stereocilia. {ECO:0000250}.;
- Disease
- DISEASE: Deafness, autosomal recessive, 16 (DFNB16) [MIM:603720]: A form of non-syndromic sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. {ECO:0000269|PubMed:11687802}. Note=The disease is caused by mutations affecting the gene represented in this entry.; DISEASE: Deafness-infertility syndrome (DIS) [MIM:611102]: Characterized by deafness and infertility and is caused by large contiguous gene deletions at 15q15.3 that removes both STRC and CATSPER2 genes. {ECO:0000269|PubMed:17098888}. Note=The disease is caused by mutations affecting the gene represented in this entry.;
Haploinsufficiency Scores
- pHI
- 0.144
- hipred
- Y
- hipred_score
- 0.523
- ghis
- 0.422
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- N
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- N
- gene_indispensability_score
- 0.109
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | High | Medium | High |
| Cancer | High | High | High |
Mouse Genome Informatics
- Gene name
- Strc
- Phenotype
- nervous system phenotype (the observable morphological and physiological characteristics of the extensive, intricate network of electochemical structures in the body that is comprised of the brain, spinal cord, nerves, ganglia and parts of the receptor organs that are manifested through development and lifespan); hearing/vestibular/ear phenotype;
Gene ontology
- Biological process
- cell-matrix adhesion;detection of mechanical stimulus involved in sensory perception of sound;auditory receptor cell stereocilium organization
- Cellular component
- cell surface;stereocilium tip;kinocilium
- Molecular function