HYAL3
Basic information
Region (hg38): 3:50292831-50299405
Links
Phenotypes
GenCC
Source:
ClinVar
This is a list of variants' phenotypes submitted to
- not_specified (120 variants)
- not_provided (1 variants)
- Auroneurodental_syndrome (1 variants)
- See_cases (1 variants)
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the HYAL3 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000003549.4. Only rare variants are included in the table.
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.
| Effect | PathogenicP | Likely pathogenicLP | VUSVUS | Likely benignLB | BenignB | Sum |
|---|---|---|---|---|---|---|
| synonymous | 0 | |||||
| missense | 52 | 60 | ||||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| splice donor/acceptor (+/-2bp) | 0 | |||||
| Total | 0 | 0 | 52 | 8 | 0 |
Highest pathogenic variant AF is 6.9611e-7
GnomAD
Source:
| Gene | Type | Bio Type | Transcript | Coding Exons | Length |
|---|---|---|---|---|---|
| HYAL3 | protein_coding | protein_coding | ENST00000336307 | 3 | 6638 |
| pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
|---|---|---|---|---|---|---|
| 3.83e-7 | 0.591 | 125689 | 0 | 54 | 125743 | 0.000215 |
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
|---|---|---|---|---|---|---|
| Missense | 1.10 | 205 | 254 | 0.806 | 0.0000155 | 2682 |
| Missense in Polyphen | 60 | 95.548 | 0.62796 | 1060 | ||
| Synonymous | -1.10 | 114 | 100 | 1.14 | 0.00000544 | 898 |
| Loss of Function | 0.999 | 12 | 16.4 | 0.733 | 9.67e-7 | 136 |
LoF frequencies by population
| Ethnicity | Sum of pLOFs | p |
|---|---|---|
| African & African-American | 0.000376 | 0.000376 |
| Ashkenazi Jewish | 0.00 | 0.00 |
| East Asian | 0.000220 | 0.000217 |
| Finnish | 0.0000474 | 0.0000462 |
| European (Non-Finnish) | 0.000168 | 0.000167 |
| Middle Eastern | 0.000220 | 0.000217 |
| South Asian | 0.000490 | 0.000490 |
| Other | 0.000331 | 0.000326 |
dbNSFP
Source:
- Function
- FUNCTION: Facilitates sperm penetration into the layer of cumulus cells surrounding the egg by digesting hyaluronic acid. Involved in induction of the acrosome reaction in the sperm. Involved in follicular atresia, the breakdown of immature ovarian follicles that are not selected to ovulate. Induces ovarian granulosa cell apoptosis, possibly via apoptotic signaling pathway involving CASP8 and CASP3 activation, and poly(ADP-ribose) polymerase (PARP) cleavage. Has no hyaluronidase activity in embryonic fibroblasts in vitro. Has no hyaluronidase activity in granulosa cells in vitro. {ECO:0000250|UniProtKB:Q8VEI3}.;
- Pathway
- Glycosaminoglycan degradation - Homo sapiens (human);miR-targeted genes in muscle cell - TarBase;Metabolism of carbohydrates;CS/DS degradation;Chondroitin sulfate/dermatan sulfate metabolism;Glycosaminoglycan metabolism;Metabolism
(Consensus)
Intolerance Scores
- loftool
- 0.671
- rvis_EVS
- 0.26
- rvis_percentile_EVS
- 70.52
Haploinsufficiency Scores
- pHI
- 0.0611
- hipred
- N
- hipred_score
- 0.239
- ghis
- 0.439
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- N
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- N
- gene_indispensability_score
- 0.214
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Hyal3
- Phenotype
- respiratory system phenotype; integument phenotype (the observable morphological and physiological characteristics of the skin and its associated structures, such as the hair, nails, sweat glands, sebaceous glands and other secretory glands that are manifested through development and lifespan); homeostasis/metabolism phenotype;
Gene ontology
- Biological process
- ovarian follicle atresia;carbohydrate metabolic process;inflammatory response;penetration of zona pellucida;response to virus;hyaluronan catabolic process;response to antibiotic;viral entry into host cell;cartilage development;cellular response to interleukin-1;cellular response to tumor necrosis factor;cellular response to UV-B;negative regulation of ovarian follicle development;positive regulation of acrosomal vesicle exocytosis
- Cellular component
- acrosomal vesicle;acrosomal membrane;extracellular region;lysosome;early endosome;endoplasmic reticulum;plasma membrane;cytoplasmic vesicle;sperm midpiece
- Molecular function
- virus receptor activity;hyalurononglucosaminidase activity;protein binding;hyaluronoglucuronidase activity