| Variant ID | 19758 |
|---|---|
| Entrez Gene ID | 10265 |
| Gene | IRX5 (GeneCards) |
| Location | hg19 16:55036328-55036328
hg38 16:55002416-55002416 |
| Disease | Xeroderma Pigmentosum (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000016.9:g.55036328 C>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 | 90354753 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.3418 |
| CADD Raw score (version 1.3) | -0.067489 (Deleterious) |
| FATHMM raw prediction score | 0.13938 (Tolerated) |
| Deleterious probability by DeFine | 0.6437 (Deleterious) |
| Entrez Gene ID | 10265 (NCBI Gene) |
|---|---|
| Official Gene Symbol | IRX5 (GeneCards) |
| Number of variants in IRX5 in this database | 10 (view all the variants) |
| Full name | iroquois homeobox 5 |
| Band | 16q12.2 |
| Other IDs | Vega: OTTHUMG00000133201 OMIM: 606195 HGNC: HGNC:14361 Ensembl: ENSG00000176842 |
| Other names | HMMS, IRXB2, IRX-2a |
| Summary | This gene encodes a member of the iroquois homeobox gene family, which are involved in several embryonic developmental processes. Knockout mice lacking this gene show that it is required for retinal cone bipolar cell differentiation, and that it negatively regulates potassium channel gene expression in the heart to ensure coordinated cardiac repolarization. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2011] |
| Individual ID | 29217584.23 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217584 |
| Whose mosaic mutation | Female Patient |
| Phenotype | 3 |
| Disease | Xeroderma Pigmentosum (view all the variants in this disease) |
| OMIM ID | 278700 |
| 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; |