| Variant ID | 929 |
|---|---|
| Entrez Gene ID | 53354 |
| Gene | PANK1 (GeneCards) |
| Location | hg19 10:91352960-91352960
hg38 10:89593203-89593203 |
| Disease | Human Skin Fibroblasts (view all the variants in this disease) |
| Method | HiSeq 2500 |
| Mutation(HGVS format) | NC_000010.10:g.91352960 C>T (Genome Assembly: hg19) |
| Exon or Intron | Exon |
|---|---|
| Position in protein | 310 |
| Amino acid changes in protein | L > L |
| Position in cDNA | NA |
| Changes in cDNA | NA > NA |
| mRNA accession | NA |
| mRNA length | NA |
| Reference length | 135534747 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 1.674 |
| CADD Raw score (version 1.3) | 0.744052 (Deleterious) |
| FATHMM raw prediction score | 0.93234 (Tolerated) |
| Deleterious probability by DeFine | 0.9101 (Deleterious) |
| Entrez Gene ID | 53354 (NCBI Gene) |
|---|---|
| Official Gene Symbol | PANK1 (GeneCards) |
| Number of variants in PANK1 in this database | 4 (view all the variants) |
| Full name | pantothenate kinase 1 |
| Band | 10q23.31 |
| Other IDs | Vega: OTTHUMG00000018718 OMIM: 606160 HGNC: HGNC:8598 Ensembl: ENSG00000152782 |
| Other names | PANK |
| Summary | This gene encodes a member of the pantothenate kinase family. Pantothenate kinases are key regulatory enzymes in the biosynthesis of coenzyme A (CoA). The encoded protein catalyzes the first and rate-limiting enzymatic reaction in CoA biosynthesis and is regulated by CoA through feedback inhibition. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. This gene and an intronic miRNA on the same strand are co-regulated by the tumor suppressor p53 (see PMID 20833636). [provided by RefSeq, Apr 2011] |
| Individual ID | 27788131.02 (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; |