Gene Gene information from NCBI Gene database.
Entrez ID 79005
Gene name Sodium channel modifier 1
Gene symbol SCNM1
Synonyms (NCBI Gene)
OFD19
Chromosome 1
Chromosome location 1q21.3
Summary SCNM1 is a zinc finger protein and putative splicing factor. In mice, Scnm1 modifies phenotypic expression of Scn8a (MIM 600702) mutations (Buchner et al., 2003 [PubMed 12920299]).[supplied by OMIM, Oct 2009]
miRNA miRNA information provided by mirtarbase database.
296
miRTarBase ID miRNA Experiments Reference
MIRT693128 hsa-miR-4484 HITS-CLIP 23313552
MIRT693127 hsa-miR-510-5p HITS-CLIP 23313552
MIRT693126 hsa-miR-4695-5p HITS-CLIP 23313552
MIRT693125 hsa-miR-6808-5p HITS-CLIP 23313552
MIRT693124 hsa-miR-6893-5p HITS-CLIP 23313552
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
16
GO ID Ontology Definition Evidence Reference
GO:0000380 Process Alternative mRNA splicing, via spliceosome IEA
GO:0000380 Process Alternative mRNA splicing, via spliceosome ISS
GO:0005515 Function Protein binding IPI 25416956, 27107012, 28514442, 29892012, 31515488, 32296183, 32814053, 33961781
GO:0005634 Component Nucleus IBA
GO:0005634 Component Nucleus IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
608095 23136 ENSG00000163156
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
2
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)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Orofaciodigital syndrome 19 Pathogenic rs2525218255, rs2525218553 RCV002294745
RCV002294747
★★★★☆
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
OROFACIODIGITAL SYNDROME XIX Disgenet, HPO
Disgenet, HPO
★★☆☆☆
Found in Text Mining + Unknown/Other Associations