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Gene id 648
Gene Summary     SNPs    Protein Summary    Gene ontology    KEGG pathways    Diseases    PubMed    

Gene Summary

Gene Symbol BMI1   Gene   UCSC   Ensembl
Aliases FLVI2/BMI1, PCGF4, RNF51, flvi-2/bmi-1
Gene name BMI1 proto-oncogene, polycomb ring finger
Alternate names polycomb complex protein BMI-1, B lymphoma Mo-MLV insertion region 1 homolog, BMI1 polycomb ring finger oncogene, BMI1 polycomb ring finger proto-oncogene, murine leukemia viral (bmi-1) oncogene homolog, polycomb group RING finger protein 4, polycomb group prot,
Gene location 10p12.2 (22321098: 22331483)     Exons: 10     NC_000001.11
Gene summary(Entrez) This gene encodes a ring finger protein that is major component of the polycomb group complex 1 (PRC1). This complex functions through chromatin remodeling as an essential epigenetic repressor of multiple regulatory genes involved in embryonic development
OMIM 164831

SNPs


rs4880

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000006.12   g.159692840A>G
NC_000006.11   g.160113872A>G
NG_008729.3   g.74690T>C
NM_001024465.3   c.47T>C
NM_001024465.2   c.47T>C
NM_001024465.1   c.47T>C
NM_001024466.3   c.47T>C
NM_001024466.2   c.47T>C
NM_001024466.1   c.47T>C
NM_001322817.2   c.-92T>C
NM_001322  

rs3105782

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000003.12   g.187253508A>G
NC_000003.11   g.186971296A>G
NG_029440.1   g.43515T>C|SEQ=[A/G]|GENE=MASP1

Protein Summary

Gene ontology

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GO accessionTerm nameEvidence codeGo category

KEGG pathways

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Pathway idPathway name
hsa00330Arginine and proline metabolism
hsa03018RNA degradation
hsa03030DNA replication
hsa04550Signaling pathways regulating pluripotency of stem cells
hsa05202Transcriptional misregulation in cancer
hsa05206MicroRNAs in cancer
hsa05202Transcriptional misregulation in cancer
hsa05206MicroRNAs in cancer
hsa04550Signaling pathways regulating pluripotency of stem cells
Associated diseases References
Cancer (penile) KEGG: H00025
Male factor infertility MIK: 29559852
Male infertility MIK: 29559852
Spermatogenic defects MIK: 31037746

PubMed references

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PMID Condition Mutation Ethnicity Population details Infertility_type Associated_genes Abstract
29559852 Male infer
tility


Male infertility
Show abstract
31037746 Spermatoge
nic defect
s

28 men with az
oospermia
Male infertility Microarray
Show abstract