Gene Gene information from NCBI Gene database.
Entrez ID 388327
Gene name Chromosome 17 open reading frame 100
Gene symbol C17orf100
Synonyms (NCBI Gene)
-
Chromosome 17
Chromosome location 17p13.1
miRNA miRNA information provided by mirtarbase database.
22
miRTarBase ID miRNA Experiments Reference
MIRT018140 hsa-miR-335-5p Microarray 18185580
MIRT047274 hsa-miR-181b-5p CLASH 23622248
MIRT835598 hsa-miR-1305 CLIP-seq
MIRT835599 hsa-miR-3671 CLIP-seq
MIRT835600 hsa-miR-4477b CLIP-seq
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.
A8MU93
Protein name Uncharacterized protein C17orf100
Family and domains
Sequence
MASARGAKQSSPRVGTTRYTETSTVRVETSSHRVETSSRRVETSQRRSEGPSLSPSGKRL
PRILEASSRHVESSSQRTETTSRHVRASSLRVETSLHCAESPTPRAKPAARQNEKTAR
Sequence length 118
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
PERIPHERAL ARTERIAL DISEASE GWAS catalog
★★☆☆☆
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
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 25, WITH AMELOGENESIS IMPERFECTA Epileptic encephalopathy CLINVAR_DG 27261973, 28673551
★☆☆☆☆
Found in Text Mining only