| Variant ID | 17146 |
|---|---|
| Entrez Gene ID | 221178 |
| Gene | SPATA13 (GeneCards) |
| Location | hg19 13:24797698-24797698
hg38 13:24223560-24223560 |
| Disease | Asymptomatic |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000013.10:g.24797698 C>T (Genome Assembly: GRCh37) |
| 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 | 115169878 |
| MAF in gnomAD genome (version 2.0.1) | 0.0000323 |
|---|---|
| EIGEN score | 0.3472 |
| CADD Raw score (version 1.3) | 8.089263 (Deleterious) |
| FATHMM raw prediction score | 0.91573 (Tolerated) |
| SIFT score | 0 (Deleterious) |
| LRT score | 0.002 |
| MutationTaster score | 1 (Deleterious) |
| PROVEAN score | -2.62 (Deleterious) |
| MetaSVM score | 0.371 (Deleterious) |
| MetaLR score | 0.628 (Deleterious) |
| MCAP score | 0.487 (Deleterious) |
| FitCons score | 0.566 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 5.06 |
| PhyloP score based on multiple alignment of 100 vertebrates | 6.677 |
| PhastCons score based on multiple alignment of 100 vertebrates | 1 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 17.496 |
| Deleterious probability by iFish2 | 0.6152 (Deleterious) |
| Deleterious probability by DeFine | 0.9795 (Deleterious) |
| Entrez Gene ID | 221178 (NCBI Gene) |
|---|---|
| Official Gene Symbol | SPATA13 (GeneCards) |
| Number of variants in SPATA13 in this database | 4 (view all the variants) |
| Full name | spermatogenesis associated 13 |
| Band | 13q12.12 |
| Other IDs | Vega: OTTHUMG00000186016 OMIM: 613324 HGNC: HGNC:23222 Ensembl: ENSG00000273167 |
| Other names | ASEF2, ARHGEF29 |
| Summary | None |
| Individual ID | 29217584.03 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217584 |
| Whose mosaic mutation | Normal |
| Phenotype | 1 |
| Disease | Asymptomatic |
| OMIM ID |
| 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; |