HYOU1
Basic information
Region (hg38): 11:119044187-119057227
Links
Phenotypes
GenCC
Source:
- granulocytopenia with immunoglobulin abnormality (Limited), mode of inheritance: Unknown
Clinical Genomic Database
Source:
Condition | Inheritance | Intervention Categories | Intervention/Rationale | Manifestation Categories | References |
---|---|---|---|---|---|
Immunodeficiency 59 and hypoglycemia | AR | Allergy/Immunology/Infectious; Endocrine | The condition has been described as involving recurrent infection, and antiinfectious prophylaxis and early and aggressive treatment of infections may be beneficial; Abnormal gluocose metabolism (resulting in hypoglycemia) has been described, and awareness may allow prompt management | Allergy/Immunology/Infectious; Endocrine | 27913302 |
ClinVar
This is a list of variants' phenotypes submitted to
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the HYOU1 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 | 58 | 79 | 12 | 149 | ||
missense | 292 | 300 | ||||
nonsense | 1 | |||||
start loss | 0 | |||||
frameshift | 2 | |||||
inframe indel | 2 | |||||
splice donor/acceptor (+/-2bp) | 1 | |||||
splice region | 17 | 23 | 4 | 44 | ||
non coding | 41 | 55 | 103 | |||
Total | 0 | 0 | 397 | 140 | 21 |
Variants in HYOU1
This is a list of pathogenic ClinVar variants found in the HYOU1 region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
Position | Type | Phenotype | Significance | ClinVar |
---|---|---|---|---|
11-119045596-T-C | Likely benign (Aug 02, 2021) | |||
11-119045602-G-A | Likely benign (Jun 12, 2021) | |||
11-119045602-G-C | not specified | Uncertain significance (Apr 20, 2024) | ||
11-119045605-G-A | Uncertain significance (Sep 10, 2023) | |||
11-119045618-C-T | Uncertain significance (Sep 04, 2023) | |||
11-119045619-G-A | Uncertain significance (Nov 22, 2021) | |||
11-119045632-C-G | Likely benign (Mar 23, 2021) | |||
11-119045632-C-T | Likely benign (Dec 09, 2023) | |||
11-119045633-G-A | Uncertain significance (Sep 01, 2021) | |||
11-119045642-T-C | not specified | Uncertain significance (Dec 19, 2022) | ||
11-119045645-T-C | Uncertain significance (Sep 24, 2021) | |||
11-119045652-G-A | not specified | Likely benign (Aug 28, 2021) | ||
11-119045661-G-C | Uncertain significance (Aug 27, 2021) | |||
11-119045667-T-A | Likely benign (Oct 23, 2021) | |||
11-119045761-A-G | Likely benign (Oct 26, 2020) | |||
11-119045762-G-T | Likely benign (Apr 30, 2021) | |||
11-119045766-C-T | Likely benign (Jan 04, 2024) | |||
11-119045767-G-A | Uncertain significance (Dec 29, 2022) | |||
11-119045777-T-C | Uncertain significance (Nov 24, 2023) | |||
11-119045782-T-A | Uncertain significance (Sep 30, 2023) | |||
11-119045786-C-G | Uncertain significance (Aug 03, 2023) | |||
11-119045801-T-C | Uncertain significance (Jul 20, 2022) | |||
11-119045810-T-G | Uncertain significance (Apr 08, 2022) | |||
11-119045819-C-T | Uncertain significance (Dec 04, 2022) | |||
11-119045821-T-C | Uncertain significance (Oct 05, 2023) |
GnomAD
Source:
Gene | Type | Bio Type | Transcript | Coding Exons | Length |
---|---|---|---|---|---|
HYOU1 | protein_coding | protein_coding | ENST00000404233 | 25 | 13014 |
pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
---|---|---|---|---|---|---|
0.861 | 0.139 | 125726 | 0 | 22 | 125748 | 0.0000875 |
Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
---|---|---|---|---|---|---|
Missense | 1.80 | 472 | 596 | 0.792 | 0.0000360 | 6538 |
Missense in Polyphen | 96 | 182.65 | 0.52559 | 2059 | ||
Synonymous | -0.486 | 237 | 228 | 1.04 | 0.0000135 | 1969 |
Loss of Function | 5.49 | 11 | 54.9 | 0.200 | 0.00000303 | 608 |
LoF frequencies by population
Ethnicity | Sum of pLOFs | p |
---|---|---|
African & African-American | 0.000308 | 0.000308 |
Ashkenazi Jewish | 0.0000992 | 0.0000992 |
East Asian | 0.000163 | 0.000163 |
Finnish | 0.000218 | 0.000185 |
European (Non-Finnish) | 0.0000353 | 0.0000352 |
Middle Eastern | 0.000163 | 0.000163 |
South Asian | 0.000131 | 0.000131 |
Other | 0.000163 | 0.000163 |
dbNSFP
Source:
- Function
- FUNCTION: Has a pivotal role in cytoprotective cellular mechanisms triggered by oxygen deprivation. May play a role as a molecular chaperone and participate in protein folding. {ECO:0000269|PubMed:10037731}.;
- Pathway
- Protein processing in endoplasmic reticulum - Homo sapiens (human);Ibuprofen Action Pathway;Phenytoin (Antiarrhythmic) Action Pathway;Ibuprofen Metabolism Pathway;Morphine Metabolism Pathway;Irinotecan Action Pathway;Morphine Action Pathway;Etoposide Action Pathway;Sorafenib Metabolism Pathway;Acetaminophen Metabolism Pathway;Vitamin A Deficiency;Irinotecan Metabolism Pathway;Etoposide Metabolism Pathway;Retinol Metabolism;XBP1(S) activates chaperone genes;Vesicle-mediated transport;Binding and Uptake of Ligands by Scavenger Receptors;Scavenging by Class F Receptors
(Consensus)
Recessive Scores
- pRec
- 0.180
Intolerance Scores
- loftool
- 0.406
- rvis_EVS
- -1.84
- rvis_percentile_EVS
- 2.08
Haploinsufficiency Scores
- pHI
- 0.557
- hipred
- Y
- hipred_score
- 0.625
- ghis
- 0.550
Essentials
- essential_gene_CRISPR
- E
- essential_gene_CRISPR2
- E
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- N
- gene_indispensability_score
- 0.498
Gene Damage Prediction
All | Recessive | Dominant | |
---|---|---|---|
Mendelian | Medium | Medium | Medium |
Primary Immunodeficiency | Medium | Medium | Medium |
Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Hyou1
- Phenotype
- behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan); mortality/aging (the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span); 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); cellular phenotype; homeostasis/metabolism phenotype;
Gene ontology
- Biological process
- response to ischemia;endoplasmic reticulum to Golgi vesicle-mediated transport;receptor-mediated endocytosis;response to endoplasmic reticulum stress;IRE1-mediated unfolded protein response;cellular response to hypoxia;negative regulation of hypoxia-induced intrinsic apoptotic signaling pathway;negative regulation of endoplasmic reticulum stress-induced neuron intrinsic apoptotic signaling pathway
- Cellular component
- extracellular region;endoplasmic reticulum;endoplasmic reticulum lumen;smooth endoplasmic reticulum;focal adhesion;membrane;endoplasmic reticulum chaperone complex;extracellular exosome;endocytic vesicle lumen
- Molecular function
- ATP binding;chaperone binding