PBX1
PBX homeobox 1
Summary
This gene encodes a nuclear protein that belongs to the PBX homeobox family of transcriptional factors. Studies in mice suggest that this gene may be involved in the regulation of osteogenesis and required for skeletal patterning and programming. A chromosomal translocation, t(1;19) involving this gene and TCF3/E2A gene, is associated with pre-B-cell acute lymphoblastic leukemia. The resulting fusion protein, in which the DNA binding domain of E2A is replaced by the DNA binding domain of this protein, transforms cells by constitutively activating transcription of genes regulated by the PBX protein family. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2017]
Known Variants98 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs940224282 | 1:164,529,089 | C/G | — | likely benign |
| rs747490519 | 1:164,529,091 | A/G | — | uncertain significance |
| rs1057295149 | 1:164,529,110 | C/T | — | likely benign |
| rs544057798 | 1:164,529,111 | G/T | — | pathogenic |
| rs2275558 | 1:164,529,120 | A/G | — | benign |
| rs2525298952 | 1:164,529,136 | T/A | — | likely pathogenic |
| rs372558581 | 1:164,529,137 | G/A | — | likely benign |
| rs192264696 | 1:164,529,151 | G/T | — | likely benign |
| rs370561885 | 1:164,529,172 | G/A | — | uncertain significance |
| rs2525299549 | 1:164,529,180 | C/T | — | pathogenic |
| rs1571217834 | 1:164,529,204 | C/T | — | likely pathogenic |
| rs148894677 | 1:164,529,246 | G/T | — | likely benign |
| rs148071998 | 1:164,532,475 | A/G | — | likely benign |
| rs2101688490 | 1:164,532,549 | G/A | — | likely pathogenic |
| rs77344187 | 1:164,582,711 | A/G | regulatory region variant | — |
| rs1780350 | 1:164,608,825 | G/T | coding sequence variant | — |
| rs1770560 | 1:164,615,381 | T/A | intron variant | — |
| rs561726636 | 1:164,617,254 | G/T | — | — |
| rs2800778 | 1:164,621,515 | T/A | — | — |
| rs540841529 | 1:164,645,624 | G/C | — | — |
| rs17383719 | 1:164,660,821 | C/T | intron variant | — |
| rs1387389 | 1:164,689,762 | G/C | — | — |
| rs185012314 | 1:164,720,237 | G/A | regulatory region variant | — |
| rs6670655 | 1:164,739,171 | T/A | coding sequence variant | — |
| rs2526763774 | 1:164,761,736 | A/C | — | uncertain significance |
| rs1423937629 | 1:164,761,742 | C/T | — | pathogenic |
| rs2526764051 | 1:164,761,768 | A/G | — | likely benign |
| rs2526764149 | 1:164,761,779 | T/A | — | uncertain significance |
| rs2102302170 | 1:164,761,785 | G/A | — | pathogenic |
| rs2526764297 | 1:164,761,796 | A/G | — | uncertain significance |
| rs2526764313 | 1:164,761,797 | T/A | — | uncertain significance |
| rs1668568844 | 1:164,761,814 | G/C | — | uncertain significance |
| rs912874716 | 1:164,761,843 | G/A | — | likely benign |
| rs866426234 | 1:164,761,887 | C/G | — | pathogenic |
| rs2526766077 | 1:164,761,968 | A/T | — | uncertain significance |
| rs754999060 | 1:164,768,926 | G/C | — | likely benign |
| rs1553248075 | 1:164,768,934 | A/G | — | pathogenic |
| rs2526809100 | 1:164,768,967 | A/G | — | uncertain significance |
| rs2526809137 | 1:164,768,970 | T/C | — | uncertain significance |
| rs1553248081 | 1:164,768,975 | C/T | — | pathogenic |
| rs759313222 | 1:164,769,007 | A/G | — | likely benign |
| rs2102319612 | 1:164,769,052 | C/A | — | uncertain significance |
| rs1668978337 | 1:164,769,059 | C/T | — | likely pathogenic |
| rs1668978474 | 1:164,769,070 | C/T | — | likely benign |
| rs2102319647 | 1:164,769,071 | A/T | — | likely pathogenic |
| rs763332823 | 1:164,769,085 | C/A | — | pathogenic |
| rs1571431145 | 1:164,769,086 | G/T | — | pathogenic |
| rs1553248110 | 1:164,769,105 | G/C | — | pathogenic |
| rs1668981132 | 1:164,769,110 | C/T | — | pathogenic |
| rs1218945005 | 1:164,769,125 | C/T | — | conflicting classifications of pathogenicity |
| rs1553248112 | 1:164,769,126 | G/C | — | likely pathogenic |
| rs2526810620 | 1:164,769,128 | T/G | — | likely pathogenic |
| rs2526810637 | 1:164,769,135 | C/G | — | likely benign |
| rs74118205 | 1:164,769,139 | T/G | — | benign |
| rs1571445295 | 1:164,776,780 | C/T | — | likely pathogenic |
| rs1553249136 | 1:164,776,781 | G/A | — | pathogenic |
| rs2526855331 | 1:164,776,789 | C/T | — | likely pathogenic |
| rs2526855476 | 1:164,776,835 | A/C | — | likely pathogenic |
| rs1669419321 | 1:164,776,837 | T/C | — | likely pathogenic |
| rs2102336603 | 1:164,776,867 | G/T | — | pathogenic |
| rs982554794 | 1:164,776,878 | G/C | — | uncertain significance |
| rs2102336635 | 1:164,776,894 | T/C | — | likely pathogenic |
| rs1558020021 | 1:164,776,895 | G/A | — | likely pathogenic |
| rs1669421181 | 1:164,776,913 | A/G | — | likely pathogenic |
| rs756408769 | 1:164,776,928 | C/G | — | likely benign |
| rs368429962 | 1:164,781,212 | C/T | — | likely benign |
| rs1669636373 | 1:164,781,226 | G/C | — | likely pathogenic |
| rs2526881783 | 1:164,781,233 | A/G | — | pathogenic |
| rs1259895025 | 1:164,781,251 | C/T | — | pathogenic |
| rs2102345680 | 1:164,781,252 | G/A | — | pathogenic |
| rs2526881926 | 1:164,781,254 | A/C | — | uncertain significance |
| rs2102345684 | 1:164,781,257 | C/T | — | pathogenic |
| rs2102345726 | 1:164,781,280 | A/C | — | uncertain significance |
| rs2526882090 | 1:164,781,287 | G/A | — | uncertain significance |
| rs1290495014 | 1:164,781,375 | C/A | — | uncertain significance |
| rs145131165 | 1:164,781,406 | G/A | — | likely benign |
| rs764163292 | 1:164,789,313 | T/C | — | likely benign |
| rs1670080053 | 1:164,789,357 | G/A | — | uncertain significance |
| rs750360584 | 1:164,789,359 | G/A | — | uncertain significance |
| rs561913596 | 1:164,789,382 | T/C | — | likely benign |
| rs142396283 | 1:164,789,410 | G/A | — | likely benign |
| rs1297780671 | 1:164,789,435 | C/T | — | likely benign |
| rs547737474 | 1:164,789,437 | A/T | — | likely benign |
| rs1538488 | 1:164,789,444 | A/G | — | benign |
| rs372802929 | 1:164,790,765 | T/C | — | likely benign |
| rs868781414 | 1:164,790,786 | C/T | — | uncertain significance |
| rs1251320270 | 1:164,790,838 | A/G | — | uncertain significance |
| rs533693615 | 1:164,790,851 | G/A | — | likely benign |
| rs529421679 | 1:164,790,883 | C/T | — | benign |
| rs1297562435 | 1:164,815,824 | A/C | — | uncertain significance |
| rs568447228 | 1:164,815,826 | T/C | — | benign |
| rs1671580259 | 1:164,815,866 | T/A | — | uncertain significance |
| rs369700366 | 1:164,815,883 | T/C | — | likely benign |
| rs150307059 | 1:164,815,885 | G/A | — | uncertain significance |
| rs767477540 | 1:164,815,926 | C/T | — | uncertain significance |
| rs1215873715 | 1:164,818,585 | C/T | — | likely benign |
| rs2525025606 | 1:164,818,630 | G/A | — | uncertain significance |
| rs976562971 | 1:164,818,646 | T/C | — | likely benign |
Gene information from NCBI Gene. Variant classifications from ClinVar.