POU5F1
POU class 5 homeobox 1
Summary
This gene encodes a transcription factor containing a POU homeodomain that plays a key role in embryonic development and stem cell pluripotency. Aberrant expression of this gene in adult tissues is associated with tumorigenesis. This gene can participate in a translocation with the Ewing's sarcoma gene on chromosome 21, which also leads to tumor formation. Alternative splicing, as well as usage of alternative AUG and non-AUG translation initiation codons, results in multiple isoforms. One of the AUG start codons is polymorphic in human populations. Related pseudogenes have been identified on chromosomes 1, 3, 8, 10, and 12. [provided by RefSeq, Oct 2013]
Known Variants21 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs3130933 | 6:31,132,085 | T/G | — | — |
| rs13409 | 6:31,132,140 | G/A | downstream gene variant | — |
| rs3734864 | 6:31,132,303 | C/T | downstream gene variant | — |
| rs758948344 | 6:31,132,566 | C/G | — | uncertain significance |
| rs1486650077 | 6:31,132,575 | C/G | — | uncertain significance |
| rs950764201 | 6:31,132,577 | C/T | — | uncertain significance |
| rs546320542 | 6:31,132,583 | G/A | — | uncertain significance |
| rs2533228487 | 6:31,132,963 | G/C | — | uncertain significance |
| rs3130932 | 6:31,133,943 | C/A | regulatory region variant | — |
| rs1265163 | 6:31,134,087 | C/T | — | — |
| rs3130931 | 6:31,134,888 | T/A | — | — |
| rs3130501 | 6:31,136,453 | A/T | — | — |
| rs3132524 | 6:31,136,714 | T/A | — | — |
| rs998426491 | 6:31,137,995 | C/T | — | uncertain significance |
| rs776664777 | 6:31,138,133 | C/T | — | likely benign |
| rs879882 | 6:31,139,452 | T/G | — | — |
| rs885952 | 6:31,139,490 | C/T | regulatory region variant | — |
| rs3132520 | 6:31,140,008 | C/A | — | — |
| rs1265159 | 6:31,140,047 | G/A | regulatory region variant | — |
| rs3132518 | 6:31,140,169 | C/G | regulatory region variant | — |
| rs9501064 | 6:31,140,445 | C/T | regulatory region variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.