Overview

Variant ID 12587
Entrez Gene ID 6674
Gene SPAG1 (GeneCards)
Location hg19 8:101211744-101211744
hg38 8:100199516-100199516
Disease Cockayne syndrome (view all the variants in this disease)
Method HiSeq X Ten
Mutation(HGVS format) NC_000008.10:g.101211744 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 146364022

Annotations and predictions

MAF in gnomAD genome (version 2.0.1) 0
EIGEN score -0.4255
CADD Raw score (version 1.3) -0.145113 (Deleterious)
FATHMM raw prediction score 0.05789 (Tolerated)
Deleterious probability by DeFine 0.1002 (Neutral)
Entrez Gene ID 6674 (NCBI Gene)
Official Gene Symbol SPAG1 (GeneCards)
Number of variants in SPAG1 in this database 2 (view all the variants)
Full name sperm associated antigen 1
Band 8q22.2
Other IDs Vega: OTTHUMG00000164706
OMIM: 603395
HGNC: HGNC:11212
Ensembl: ENSG00000104450
Other names SP75, TPIS, CT140, CILD28, HSD-3.8, HEL-S-268
Summary The correlation of anti-sperm antibodies with cases of unexplained infertility implicates a role for these antibodies in blocking fertilization. Improved diagnosis and treatment of immunologic infertility, as well as identification of proteins for targeted contraception, are dependent on the identification and characterization of relevant sperm antigens. The protein expressed by this gene is recognized by anti-sperm agglutinating antibodies from an infertile woman. Furthermore, immunization of female rats with the recombinant human protein reduced fertility. This protein localizes to the plasma membrane of germ cells in the testis and to the post-acrosomal plasma membrane of mature spermatozoa. Recombinant polypeptide binds GTP and exhibits GTPase activity. Thus, this protein may regulate GTP signal transduction pathways involved in spermatogenesis and fertilization. Two transcript variants of this gene encode the same protein. [provided by RefSeq, Jul 2008]

Individual #1

Individual ID 29217584.16 (view all the variants in this individual)
Pubmed ID 29217584
Whose mosaic mutation Female Patient  
Phenotype 3  
Disease Cockayne syndrome (view all the variants in this disease)
OMIM ID 216400

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;