Gene Gene information from NCBI Gene database.
Entrez ID 100129250
Gene name Small integral membrane protein 27
Gene symbol SMIM27
Synonyms (NCBI Gene)
C9orf133TOPORS-AS1
Chromosome 9
Chromosome location 9p21.1
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
1
GO ID Ontology Definition Evidence Reference
GO:0016020 Component Membrane IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
HGNC N/A HGNC
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
A0A1B0GUW7
Protein name Small integral membrane protein 27 (TOPORS antisense RNA 1)
Family and domains
Sequence
MKPVSRRTLDWIYSVLLLAIVLISWGCIIYASMVSARRQLRKKYPDKIFGTNENL
Sequence length 55
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
1
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
RETINITIS PIGMENTOSA Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Leukemia, Myelocytic, Acute Leukemia GWASCAT_DG 27903959
★☆☆☆☆
Found in Text Mining only
Ovarian Neoplasms Ovarian neoplasm Pubtator 33820921 Associate
★☆☆☆☆
Found in Text Mining only
Stomach Neoplasms Stomach neoplasms Pubtator 29992774 Associate
★☆☆☆☆
Found in Text Mining only