| Variant ID | 21829 |
|---|---|
| Entrez Gene ID | 91464 |
| Gene | ISX (GeneCards) |
| Location | hg19 22:35478538-35478538
hg38 22:35082545-35082545 |
| Disease | Asymptomatic |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000022.10:g.35478538 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 | 51304566 |
| MAF in gnomAD genome (version 2.0.1) | 0.0003 |
|---|---|
| SNP ID (dbSNP ID version 137) | rs202000999 |
| Variant IDs in COSMIC (version 89) | 1210954 |
| Variant occurences in COSMIC | 1(pancreas)|1(oesophagus)|1(large_intestine) |
| EIGEN score | 0.8538 |
| CADD Raw score (version 1.3) | 6.285968 (Deleterious) |
| FATHMM raw prediction score | 0.9449 (Tolerated) |
| SIFT score | 0.001 (Deleterious) |
| LRT score | 0 (Deleterious) |
| MutationTaster score | 1 (Deleterious) |
| MutatioinAssessor score | 4.805 (Deleterious) |
| PROVEAN score | -4.98 (Deleterious) |
| MetaSVM score | 0.989 (Deleterious) |
| MetaLR score | 0.987 (Deleterious) |
| MCAP score | 0.561 (Deleterious) |
| FitCons score | 0.487 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 4.94 |
| PhyloP score based on multiple alignment of 100 vertebrates | 9.802 |
| PhastCons score based on multiple alignment of 100 vertebrates | 1 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 15.683 |
| Deleterious probability by iFish2 | 0.9976 (Deleterious) |
| Deleterious probability by DeFine | 0.9494 (Deleterious) |
| Entrez Gene ID | 91464 (NCBI Gene) |
|---|---|
| Official Gene Symbol | ISX (GeneCards) |
| Number of variants in ISX in this database | 2 (view all the variants) |
| Full name | intestine specific homeobox |
| Band | 22q12.3 |
| Other IDs | Vega: OTTHUMG00000150962 OMIM: 612019 HGNC: HGNC:28084 Ensembl: ENSG00000175329 |
| Other names | Pix-1, RAXLX |
| Summary | Homeobox genes encode DNA-binding proteins, many of which are thought to be involved in early embryonic development. Homeobox genes encode a DNA-binding domain of 60 to 63 amino acids referred to as the homeodomain. This gene is a member of the RAXLX homeobox gene family. [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; |