| Variant ID | 9002 |
|---|---|
| Entrez Gene ID | 9896 |
| Gene | FIG4 (GeneCards) |
| Location | hg19 6:110277688-110277688
hg38 6:109956485-109956485 |
| Disease | Asymptomatic |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000006.11:g.110277688 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 | 171115067 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.3744 |
| CADD Raw score (version 1.3) | -0.306402 (Deleterious) |
| FATHMM raw prediction score | 0.07687 (Tolerated) |
| Deleterious probability by DeFine | 0.1966 (Neutral) |
| Entrez Gene ID | 9896 (NCBI Gene) |
|---|---|
| Official Gene Symbol | FIG4 (GeneCards) |
| Number of variants in FIG4 in this database | 3 (view all the variants) |
| Full name | FIG4 phosphoinositide 5-phosphatase |
| Band | 6q21 |
| Other IDs | Vega: OTTHUMG00000015352 OMIM: 609390 HGNC: HGNC:16873 Ensembl: ENSG00000112367 |
| Other names | YVS, BTOP, SAC3, ALS11, CMT4J, KIAA0274, dJ249I4.1 |
| Summary | The protein encoded by this gene belongs to the SAC domain-containing protein gene family. The SAC domain, approximately 400 amino acids in length and consisting of seven conserved motifs, has been shown to possess phosphoinositide phosphatase activity. The yeast homolog, Sac1p, is involved in the regulation of various phosphoinositides, and affects diverse cellular functions such as actin cytoskeleton organization, Golgi function, and maintenance of vacuole morphology. Membrane-bound phosphoinositides function as signaling molecules and play a key role in vesicle trafficking in eukaryotic cells. Mutations in this gene have been associated with Charcot-Marie-Tooth disease, type 4J. [provided by RefSeq, Jul 2008] |
| 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; |