USB1 Chromosome 16
U6 snRNA biogenesis phosphodiesterase 1
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What This Gene Does
This gene encodes a protein with several conserved domains, however, its exact function is not known. Mutations in this gene are associated with poikiloderma with neutropenia (PN), which shows phenotypic overlap with Rothmund-Thomson syndrome (RTS) caused by mutations in the RECQL4 gene. It is believed that this gene product interacts with RECQL4 protein via SMAD4 proteins, explaining the partial clinical overlap between PN and RTS. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Mar 2011]
Associated Conditions (3)
Poikiloderma with neutropenia
Inborn genetic diseases
USB1-related disorder
Key Variants
RS146685901
Conflicting classifications of pathogenicity
Poikiloderma with neutropenia, Poikiloderma with neutropenia
Health Risk
RS149725439
Conflicting classifications of pathogenicity
Poikiloderma with neutropenia, Poikiloderma with neutropenia
Health Risk
RS1555498563
Conflicting classifications of pathogenicity
Poikiloderma with neutropenia, Poikiloderma with neutropenia
Health Risk
RS369515724
Conflicting classifications of pathogenicity
Health Risk
RS554516072
Conflicting classifications of pathogenicity
Inborn genetic diseases, USB1-related disorder, Inborn genetic diseases
Health Risk
RS571564926
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS781151070
Conflicting classifications of pathogenicity
Health Risk
RS956040185
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1246299084
Likely pathogenic
Health Risk
RS1249059283
Likely pathogenic
Poikiloderma with neutropenia, Poikiloderma with neutropenia
Health Risk
RS1342824953
Likely pathogenic
Health Risk
RS1555498120
Likely pathogenic
Poikiloderma with neutropenia, Poikiloderma with neutropenia
Health Risk
All Variants (35)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS146685901 | Health Risk | Conflicting classifications of pathogenicity | Poikiloderma with neutropenia, Poikiloderma with neutropenia |
| RS149725439 | Health Risk | Conflicting classifications of pathogenicity | Poikiloderma with neutropenia, Poikiloderma with neutropenia |
| RS1555498563 | Health Risk | Conflicting classifications of pathogenicity | Poikiloderma with neutropenia, Poikiloderma with neutropenia |
| RS369515724 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS554516072 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, USB1-related disorder, Inborn genetic diseases |
| RS571564926 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS781151070 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS956040185 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS1246299084 | Health Risk | Likely pathogenic | — |
| RS1249059283 | Health Risk | Likely pathogenic | Poikiloderma with neutropenia, Poikiloderma with neutropenia |
| RS1342824953 | Health Risk | Likely pathogenic | — |
| RS1555498120 | Health Risk | Likely pathogenic | Poikiloderma with neutropenia, Poikiloderma with neutropenia |
| RS1597049287 | Health Risk | Likely pathogenic | Poikiloderma with neutropenia, Poikiloderma with neutropenia |
| RS1963564019 | Health Risk | Likely pathogenic | — |
| RS2142290923 | Health Risk | Likely pathogenic | — |
| RS2544717657 | Health Risk | Likely pathogenic | — |
| RS1292827495 | Health Risk | Pathogenic | Poikiloderma with neutropenia, Poikiloderma with neutropenia |
| RS137853970 | Health Risk | Pathogenic | Poikiloderma with neutropenia, Poikiloderma with neutropenia |
| RS137853971 | Health Risk | Pathogenic | Poikiloderma with neutropenia, Poikiloderma with neutropenia |
| RS137853972 | Health Risk | Pathogenic | Poikiloderma with neutropenia, Poikiloderma with neutropenia |
| RS137853973 | Health Risk | Pathogenic | Poikiloderma with neutropenia, Poikiloderma with neutropenia |
| RS1459714680 | Health Risk | Pathogenic | Poikiloderma with neutropenia, Poikiloderma with neutropenia |
| RS1555498092 | Health Risk | Pathogenic | Poikiloderma with neutropenia, Poikiloderma with neutropenia |
| RS1555498129 | Health Risk | Pathogenic | Poikiloderma with neutropenia, Poikiloderma with neutropenia |
| RS1555498399 | Health Risk | Pathogenic | Poikiloderma with neutropenia, Poikiloderma with neutropenia |
| RS1555498565 | Health Risk | Pathogenic | Poikiloderma with neutropenia, Poikiloderma with neutropenia |
| RS1555498573 | Health Risk | Pathogenic | Poikiloderma with neutropenia, Poikiloderma with neutropenia |
| RS1963248804 | Health Risk | Pathogenic | — |
| RS1963565243 | Health Risk | Pathogenic | — |
| RS2544726550 | Health Risk | Pathogenic | — |
| RS759761915 | Health Risk | Pathogenic | Poikiloderma with neutropenia, Poikiloderma with neutropenia |
| RS771096742 | Health Risk | Pathogenic | — |
| RS777667891 | Health Risk | Pathogenic | Poikiloderma with neutropenia, Poikiloderma with neutropenia |
| RS786205051 | Health Risk | Pathogenic | Poikiloderma with neutropenia, Poikiloderma with neutropenia |
| RS747958554 | Health Risk | Pathogenic/Likely pathogenic | Poikiloderma with neutropenia, USB1-related disorder, Poikiloderma with neutropenia |