Gene Gene information from NCBI Gene database.
Entrez ID 100130311
Gene name Chromosome 17 open reading frame 107
Gene symbol C17orf107
Synonyms (NCBI Gene)
-
Chromosome 17
Chromosome location 17p13.2
miRNA miRNA information provided by mirtarbase database.
27
miRTarBase ID miRNA Experiments Reference
MIRT835971 hsa-miR-1275 CLIP-seq
MIRT835972 hsa-miR-2277-3p CLIP-seq
MIRT835973 hsa-miR-24 CLIP-seq
MIRT835974 hsa-miR-3660 CLIP-seq
MIRT835975 hsa-miR-4313 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.
Q6ZR85
Protein name Uncharacterized protein C17orf107
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF17688 DUF5536 1 186 Family of unknown function (DUF5536) Family
Sequence
Sequence length 190
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
8
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
ALZHEIMER DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
MYASTHENIC SYNDROME, CONGENITAL, 1B, FAST-CHANNEL Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
MYASTHENIC SYNDROME, CONGENITAL, 4A, SLOW-CHANNEL Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
MYASTHENIC SYNDROME, CONGENITAL, 4B, FAST-CHANNEL 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
Hirschsprung Disease Hirschsprung Disease BEFREE 30663199
★☆☆☆☆
Found in Text Mining only
MYASTHENIC SYNDROME, CONGENITAL, 1B, FAST-CHANNEL Myasthenic Syndrome CLINVAR_DG
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
MYASTHENIC SYNDROME, CONGENITAL, 4A, SLOW-CHANNEL Myasthenic Syndrome CLINVAR_DG 14592868, 21822932, 22678886, 27779167, 7538206, 8755487, 8872460, 9158150
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
MYASTHENIC SYNDROME, CONGENITAL, 4B, FAST-CHANNEL Myasthenic Syndrome CLINVAR_DG
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY Myasthenic Syndrome CLINVAR_DG
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Myasthenic Syndromes, Congenital Myasthenic Syndrome CLINVAR_DG 20562457, 21150643, 27717316, 29054425, 29383513, 9158150, 9708546
★★☆☆☆
Found in Text Mining + Unknown/Other Associations