| Variant ID | 8593 |
|---|---|
| Entrez Gene ID | 79192 |
| Gene | IRX1 (GeneCards) |
| Location | hg19 5:3632341-3632341
hg38 5:3632227-3632227 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000005.9:g.3632341 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 | 180915260 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.3414 |
| CADD Raw score (version 1.3) | -0.111864 (Deleterious) |
| FATHMM raw prediction score | 0.06577 (Tolerated) |
| Deleterious probability by DeFine | 0.0817 (Neutral) |
| Entrez Gene ID | 79192 (NCBI Gene) |
|---|---|
| Official Gene Symbol | IRX1 (GeneCards) |
| Number of variants in IRX1 in this database | 15 (view all the variants) |
| Full name | iroquois homeobox 1 |
| Band | 5p15.33 |
| Other IDs | Vega: OTTHUMG00000161632 OMIM: 606197 HGNC: HGNC:14358 Ensembl: ENSG00000170549 |
| Other names | IRX-5, IRXA1 |
| Summary | This gene encodes a member of the Iroquois homeobox protein family. Homeobox genes in this family are involved in pattern formation in the embryo. The gene product has been identified as a tumor suppressor in gastric (PMID: 21602894, 20440264) and head and neck cancers (PMID: 18559491). A pseudogene of this gene is located on chromosome 13. [provided by RefSeq, Dec 2011] |
| 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; |