| Variant ID | 4456 |
|---|---|
| Entrez Gene ID | 79582 |
| Gene | SPAG16 (GeneCards) |
| Location | hg19 2:214779043-214779043
hg38 2:213914319-213914319 |
| Disease | Xeroderma Pigmentosum (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000002.11:g.214779043 G>A (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 | 243199373 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.3434 |
| CADD Raw score (version 1.3) | -0.025711 (Deleterious) |
| FATHMM raw prediction score | 0.08048 (Tolerated) |
| Deleterious probability by DeFine | 0.132 (Neutral) |
| Entrez Gene ID | 79582 (NCBI Gene) |
|---|---|
| Official Gene Symbol | SPAG16 (GeneCards) |
| Number of variants in SPAG16 in this database | 12 (view all the variants) |
| Full name | sperm associated antigen 16 |
| Band | 2q34 |
| Other IDs | Vega: OTTHUMG00000133015 OMIM: 612173 HGNC: HGNC:23225 Ensembl: ENSG00000144451 |
| Other names | PF20, WDR29 |
| Summary | Cilia and flagella are comprised of a microtubular backbone, the axoneme, which is organized by the basal body and surrounded by plasma membrane. SPAG16 encodes 2 major proteins that associate with the axoneme of sperm tail and the nucleus of postmeiotic germ cells, respectively (Zhang et al., 2007 [PubMed 17699735]).[supplied by OMIM, Jul 2008] |
| Individual ID | 29217584.22 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217584 |
| Whose mosaic mutation | Female Patient |
| Phenotype | 3 |
| Disease | Xeroderma Pigmentosum (view all the variants in this disease) |
| OMIM ID | 278700 |
| 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; |