| Variant ID | 791 |
|---|---|
| Entrez Gene ID | 6676 |
| Gene | SPAG4 (GeneCards) |
| Location | hg19 20:34208657-34208657
hg38 20:35620735-35620735 |
| Disease | Human Skin Fibroblasts (view all the variants in this disease) |
| Method | HiSeq 2500 |
| Mutation(HGVS format) | NC_000020.10:g.34208657 G>A (Genome Assembly: hg19) |
| Exon or Intron | Exon |
|---|---|
| Position in protein | 377 |
| Amino acid changes in protein | D > N |
| Position in cDNA | NA |
| Changes in cDNA | NA > NA |
| mRNA accession | NA |
| mRNA length | NA |
| Reference length | 63025520 |
| MAF in gnomAD genome (version 2.0.1) | 0.00003239 |
|---|---|
| EIGEN score | -0.9115 |
| CADD Raw score (version 1.3) | 1.34314 (Deleterious) |
| FATHMM raw prediction score | 0.06544 (Tolerated) |
| SIFT score | 0.202 (Tolerated) |
| LRT score | 0.018 (Tolerated) |
| MutationTaster score | 1 (Tolerated) |
| MutatioinAssessor score | 1.3 (Tolerated) |
| PROVEAN score | -1.69 (Tolerated) |
| MetaSVM score | -1.044 (Tolerated) |
| MetaLR score | 0.067 (Tolerated) |
| MCAP score | 0.004 (Tolerated) |
| FitCons score | 0.732 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 3.29 |
| PhyloP score based on multiple alignment of 100 vertebrates | 0.494 |
| PhastCons score based on multiple alignment of 100 vertebrates | 0.005 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 8.141 |
| Deleterious probability by iFish2 | 0.1802 (Neutral) |
| Deleterious probability by DeFine | 0.7864 (Deleterious) |
| Entrez Gene ID | 6676 (NCBI Gene) |
|---|---|
| Official Gene Symbol | SPAG4 (GeneCards) |
| Number of variants in SPAG4 in this database | 1 (view all the variants) |
| Full name | sperm associated antigen 4 |
| Band | 20q11.22 |
| Other IDs | Vega: OTTHUMG00000032352 OMIM: 603038 HGNC: HGNC:11214 Ensembl: ENSG00000061656 |
| Other names | SUN4, CT127 |
| Summary | The mammalian sperm flagellum contains two cytoskeletal structures associated with the axoneme: the outer dense fibers surrounding the axoneme in the midpiece and principal piece and the fibrous sheath surrounding the outer dense fibers in the principal piece of the tail. Defects in these structures are associated with abnormal tail morphology, reduced sperm motility, and infertility. In the rat, the protein encoded by this gene associates with an outer dense fiber protein via a leucine zipper motif and localizes to the microtubules of the manchette and axoneme during sperm tail development. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2015] |
| Individual ID | 27788131.01 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 27788131 |
| Whose mosaic mutation | Normal |
| Phenotype | 1 |
| Disease | Human Skin Fibroblasts (view all the variants in this disease) |
| OMIM ID | 120353 |
| Pubmed ID | 27788131 |
|---|---|
| Title | The Impact of Environmental and Endogenous Damage on Somatic Mutation Load in Human Skin Fibroblasts. |
| Journal | PLoS Genetics |
| Publication date | 2016.10 |
| Disease | Human Skin Fibroblasts |
| Population | Caucasian |
| Number of cases | Male cases: 2; |