Overview

Variant ID 10440
Entrez Gene ID 6677
Gene SPAM1 (GeneCards)
Location hg19 7:123582561-123582561
hg38 7:123942507-123942507
Disease Asymptomatic
Method HiSeq X Ten
Mutation(HGVS format) NC_000007.13:g.123582561 G>A (Genome Assembly: GRCh37)

Other information

Exon or Intron NA
Position in protein NA
Amino acid changes in protein NA > NA
Position in cDNA NA
Changes in cDNA NA > NA
mRNA accession NA
mRNA length NA
Reference length 159138663

Annotations and predictions

MAF in gnomAD genome (version 2.0.1) 0
EIGEN score 0.0197
CADD Raw score (version 1.3) 0.525025 (Deleterious)
FATHMM raw prediction score 0.24506 (Tolerated)
Deleterious probability by DeFine 0.103 (Neutral)
Entrez Gene ID 6677 (NCBI Gene)
Official Gene Symbol SPAM1 (GeneCards)
Number of variants in SPAM1 in this database 1 (view all the variants)
Full name sperm adhesion molecule 1
Band 7q31.32
Other IDs Vega: OTTHUMG00000157284
OMIM: 600930
HGNC: HGNC:11217
Ensembl: ENSG00000106304
Other names HYA1, PH20, HYAL1, HYAL3, HYAL5, PH-20, SPAG15, HEL-S-96n
Summary Hyaluronidase degrades hyaluronic acid, a major structural proteoglycan found in extracellular matrices and basement membranes. Six members of the hyaluronidase family are clustered into two tightly linked groups on chromosome 3p21.3 and 7q31.3. This gene was previously referred to as HYAL1 and HYA1 and has since been assigned the official symbol SPAM1; another family member on chromosome 3p21.3 has been assigned HYAL1. This gene encodes a GPI-anchored enzyme located on the human sperm surface and inner acrosomal membrane. This multifunctional protein is a hyaluronidase that enables sperm to penetrate through the hyaluronic acid-rich cumulus cell layer surrounding the oocyte, a receptor that plays a role in hyaluronic acid induced cell signaling, and a receptor that is involved in sperm-zona pellucida adhesion. Abnormal expression of this gene in tumors has implicated this protein in degradation of basement membranes leading to tumor invasion and metastasis. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2010]

Individual #1

Individual ID 29217584.03 (view all the variants in this individual)
Pubmed ID 29217584
Whose mosaic mutation Normal  
Phenotype 1  
Disease Asymptomatic
OMIM ID

Publication #1: 29217584

Pubmed ID 29217584
Title Aging and neurodegeneration are associated with increased mutations in single human neurons.
Journal Science
Publication date 2018.02
Disease Cockayne syndrome Xeroderma Pigmentosum
Number of cases Male cases: 3; Female cases: 6; cases of unknown sex: 15;