Ensembl ID ENSG00000103005 Gene ID 79650 Accession 25792
Gene Symbol USB1 Alias PN;Mpn1;HVSL1;hMpn1;hUsb1;C16orf57 Full Name U6 snRNA biogenesis phosphodiesterase 1
Position 16 : 57999546 - 58021618 Length 22073 bases Strand Plus strand
Status Confidence Main interacting RNAssnRNARBP type Canonical_RBPs
Summary 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]

ENSG00000103005 Expression In 33 Tumors

Ensembl ID Gene symbol Log2 Foldchange Pvaue Cancer
ENSG00000103005 USB1 1.14 5.63e-29 HNSC
ENSG00000103005 USB1 0.63 2.93e-15 LUSC
ENSG00000103005 USB1 0.61 2.78e-12 KIRP
ENSG00000103005 USB1 0.78 1.53e-17 UCEC
ENSG00000103005 USB1 0.68 1.90e-22 LUAD
Ensembl ID Gene symbol Cancer types Pubmed ID
Ensembl ID Gene symbol Disease/phenotype Mutation type Mutated / Total samples Literature
Ensembl ID Gene symbol Cancer P-value Which worse show
ENSG00000103005 USB1 MESO 0.0083 high
ENSG00000103005 USB1 UVM 0.037 high
ENSG00000103005 USB1 PAAD 0.011 high
ENSG00000103005 USB1 UCEC 0.032 high
ENSG00000103005 USB1 THCA 0.00069 low
ENSG00000103005 USB1 ACC 0.019 low
ENSG00000103005 USB1 LGG 0.00022 high
ENSG00000103005 USB1 LUSC 0.017 high
ENSG00000103005 USB1 HNSC 0.0024 high
ENSG00000103005 USB1 READ 0.0085 high
ENSG00000103005 USB1 KICH 0.0066 low
ENSG00000103005 USB1 THYM 0.0024 low
ENSG00000103005 USB1 COAD 0.0095 high
ENSG00000103005 USB1 ESCA 0.0046 high
ENSG00000103005 USB1 OV 0.05 high
ENSG00000103005 USB1 DLBC 0.027 high
ENSG00000103005 USB1 PRAD 0.043 low
ENSG00000103005 USB1 LAML 0.026 high
ENSG00000103005 USB1 SKCM 0.00018 high
ENSG00000103005 USB1 CESC 0.026 high
Ensembl ID Gene symbol Cancer CNV type -log10(q-value) G-score average amplitude frequency
ENSG00000103005 USB1 CESC Del 0.808824 0.068996 0.521521 0.186441
ENSG00000103005 USB1 TGCT Amp 0.676527 0.115005 0.628345 0.126667
ENSG00000103005 USB1 UCEC Del 2.922516 0.071909 0.629494 0.276438