| Variant ID | 21466 |
|---|---|
| Entrez Gene ID | 441951 |
| Gene | ZFAS1 (GeneCards) |
| Location | hg19 20:47954078-47954078
hg38 20:49337541-49337541 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000020.10:g.47954078 G>C (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 | 63025520 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.1087 |
| CADD Raw score (version 1.3) | -0.436945 (Deleterious) |
| FATHMM raw prediction score | 0.13365 (Tolerated) |
| Deleterious probability by DeFine | 0.7591 (Deleterious) |
| Entrez Gene ID | 441951 (NCBI Gene) |
|---|---|
| Official Gene Symbol | ZFAS1 (GeneCards) |
| Number of variants in ZFAS1 in this database | 1 (view all the variants) |
| Full name | ZNFX1 antisense RNA 1 |
| Band | 20q13.13 |
| Other IDs | HGNC: HGNC:33101 Ensembl: ENSG00000177410 |
| Other names | HSUP1, HSUP2, C20orf199, ZNFX1-AS1, NCRNA00275 |
| Summary | This gene represents a snoRNA host gene that produces a non-coding RNA. Increased expression or amplification of this locus is associated with cancer progression and metastasis. This transcript regulates expression of genes involved in differentiation. It may act a molecular sponge for microRNAs. Alternatively spliced transcript variants have been observed. [provided by RefSeq, Dec 2017] |
| 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 |
| 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; |