SPI1 Chromosome 11
Spi-1 proto-oncogene
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What This Gene Does
This gene encodes an ETS-domain transcription factor that activates gene expression during myeloid and B-lymphoid cell development. The nuclear protein binds to a purine-rich sequence known as the PU-box found near the promoters of target genes, and regulates their expression in coordination with other transcription factors and cofactors. The protein can also regulate alternative splicing of target genes. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
ETS transcription factor family
Locus Type
gene with protein product
Location
11p11.2
Ensembl
ENSG00000066336
Associated Conditions (4)
Agammaglobulinemia 10
autosomal dominant
PU.1-mutated agammaglobulinemia
Agammaglobulinemia
Key Variants
RS765064980
Conflicting classifications of pathogenicity
Agammaglobulinemia 10, autosomal dominant, Agammaglobulinemia 10
Health Risk
RS2095906404
Likely pathogenic
PU.1-mutated agammaglobulinemia, Agammaglobulinemia 10, autosomal dominant
Health Risk
RS2095906547
Likely pathogenic
PU.1-mutated agammaglobulinemia, Agammaglobulinemia 10, autosomal dominant
Health Risk
RS2495795874
Likely pathogenic
Agammaglobulinemia 10, autosomal dominant, Agammaglobulinemia 10
Health Risk
RS1565638431
Pathogenic
PU.1-mutated agammaglobulinemia, Agammaglobulinemia 10, autosomal dominant
Health Risk
RS2095916574
Pathogenic
PU.1-mutated agammaglobulinemia, Agammaglobulinemia 10, autosomal dominant
Health Risk
RS2142884393
Pathogenic
PU.1-mutated agammaglobulinemia, Agammaglobulinemia 10, autosomal dominant
Health Risk
RS2495813727
Pathogenic
Health Risk
RS773877800
Pathogenic
PU.1-mutated agammaglobulinemia, Agammaglobulinemia 10, autosomal dominant
Health Risk
All Variants (9)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS765064980 | Health Risk | Conflicting classifications of pathogenicity | Agammaglobulinemia 10, autosomal dominant, Agammaglobulinemia 10 |
| RS2095906404 | Health Risk | Likely pathogenic | PU.1-mutated agammaglobulinemia, Agammaglobulinemia 10, autosomal dominant |
| RS2095906547 | Health Risk | Likely pathogenic | PU.1-mutated agammaglobulinemia, Agammaglobulinemia 10, autosomal dominant |
| RS2495795874 | Health Risk | Likely pathogenic | Agammaglobulinemia 10, autosomal dominant, Agammaglobulinemia 10 |
| RS1565638431 | Health Risk | Pathogenic | PU.1-mutated agammaglobulinemia, Agammaglobulinemia 10, autosomal dominant |
| RS2095916574 | Health Risk | Pathogenic | PU.1-mutated agammaglobulinemia, Agammaglobulinemia 10, autosomal dominant |
| RS2142884393 | Health Risk | Pathogenic | PU.1-mutated agammaglobulinemia, Agammaglobulinemia 10, autosomal dominant |
| RS2495813727 | Health Risk | Pathogenic | — |
| RS773877800 | Health Risk | Pathogenic | PU.1-mutated agammaglobulinemia, Agammaglobulinemia 10, autosomal dominant |