HYAL4

hyaluronidase 4, the group of Hyaluronidases

Basic information

Region (hg38): 7:123828983-123877481

Links

ENSG00000106302 ∙ NCBI:23553 ∙ OMIM:604510 ∙ HGNC:5323 ∙ Uniprot:Q2M3T9 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the HYAL4 gene.

• not_specified (61 variants)
• not_provided (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the HYAL4 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000012269.3. 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				1		1
missense			61			61
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	61	1	0

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
HYAL4	protein_coding	protein_coding	ENST00000223026	3	48496

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
3.10e-17	0.00131	125409	0	337	125746	0.00134

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.0993	258	254	1.02	0.0000121	3134
Missense in Polyphen		89	89.052	0.99941		1170
Synonymous	1.23	79	94.2	0.839	0.00000494	923
Loss of Function	-0.831	23	19.1	1.21	0.00000104	228

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00182	0.00180
Ashkenazi Jewish	0.0000993	0.0000992
East Asian	0.00122	0.00120
Finnish	0.00120	0.00120
European (Non-Finnish)	0.00193	0.00191
Middle Eastern	0.00122	0.00120
South Asian	0.000803	0.000752
Other	0.00167	0.00163

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Endo-hyaluronidase that degrades hyaluronan to smaller oligosaccharide fragments. Has also chondroitin sulfate hydrolase activity, The best substrate being the galactosaminidic linkage in the sequence of a trisulfated tetrasaccharide. {ECO:0000269|PubMed:16104017, ECO:0000269|PubMed:19889881}.
• Pathway: Glycosaminoglycan degradation - Homo sapiens (human);chondroitin sulfate degradation (metazoa) (Consensus)

Recessive Scores

• pRec: 0.107

Intolerance Scores

• loftool: 0.929
• rvis_EVS: 0.73
• rvis_percentile_EVS: 86.21

Haploinsufficiency Scores

• pHI: 0.117
• hipred: N
• hipred_score: 0.197

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.115

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium

Mouse Genome Informatics

• Gene name: Hyal4
• Phenotype: skeleton phenotype; adipose tissue phenotype (the observable morphological and physiological characteristics of mammalian fat tissue that are manifested through development and lifespan)

Gene ontology

• Biological process: carbohydrate metabolic process;glycosaminoglycan catabolic process;chondroitin sulfate catabolic process
• Cellular component: cell surface;integral component of membrane
• Molecular function: hyalurononglucosaminidase activity