HYOU1

hypoxia up-regulated 1, the group of Heat shock 70kDa proteins

Basic information

Region (hg38): 11:119044188-119057227

Links

ENSG00000149428 ∙ NCBI:10525 ∙ OMIM:601746 ∙ HGNC:16931 ∙ Uniprot:Q9Y4L1 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

• granulocytopenia with immunoglobulin abnormality (Limited), mode of inheritance: Unknown
• granulocytopenia with immunoglobulin abnormality (Limited), mode of inheritance: AR

Clinical Genomic Database

Source: CGD

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 ClinVar and linked to the HYOU1 gene.

• not_provided (657 variants)
• not_specified (126 variants)
• HYOU1-related_disorder (26 variants)
• Granulocytopenia_with_immunoglobulin_abnormality (12 variants)
• Infantile_hypotonia-oculomotor_anomalies-hyperkinetic_movements-developmental_delay_syndrome (1 variants)

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. These statistics are base on transcript: NM_000006389.5. 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	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous			52	114	11	177
missense	2		365	9	2	378
nonsense			1			1
start loss						0
frameshift			2			2
splice donor/acceptor (+/-2bp)			2			2
Total	2	0	422	123	13

GnomAD

Source: gnomAD

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: dbNSFP

• 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