Gene Gene information from NCBI Gene database.
Entrez ID 55071
Gene name Chromosome 9 open reading frame 40
Gene symbol C9orf40
Synonyms (NCBI Gene)
-
Chromosome 9
Chromosome location 9q21.13
miRNA miRNA information provided by mirtarbase database.
363
miRTarBase ID miRNA Experiments Reference
MIRT016591 hsa-miR-193b-3p Microarray 20304954
MIRT020465 hsa-miR-106b-5p Microarray 17242205
MIRT051809 hsa-let-7c-5p CLASH 23622248
MIRT020465 hsa-miR-106b-5p CLASH 23622248
MIRT504103 hsa-miR-3609 PAR-CLIP 20371350
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.
Q8IXQ3
Protein name Uncharacterized protein C9orf40
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF15017 WRNPLPNID 148 194 Putative WW-binding domain and destruction box Disordered
Sequence
MAKRRAAEPVTFHVPWKRLLLCDFAEQPPPPPLWIRPPGVAHAGQLLGVPEQHRKRKIDA
GTMAEPSASPSKRRDSGDNSAPSGQEREDHGLETGDPPLPPPPVLPGPGEELPGARLPGG
GGDDGAGRAGPPRGDWGVASRQHNEEFWQYNTFQYWRNPLPPIDLADIEDLSEDTLTEAT
LQGRNEGAEVDMES
Sequence length 194
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
GOUT GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations