Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
266553
Gene name Gene Name - the full gene name approved by the HGNC.
Orofacial cleft 1 candidate 1 (pseudogene)
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
OFCC1
Synonyms (NCBI Gene) Gene synonyms aliases
MRDS1, Opo
Chromosome Chromosome number
6
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
6p24.3
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT025134 hsa-miR-181a-5p Microarray 17612493
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 23455924, 32814053
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
614287 21017 HGNC
Protein
UniProt ID Q8IZS5
Protein name Orofacial cleft 1 candidate gene 1 protein (Orofacial clefting chromosomal breakpoint region candidate 1 protein)
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF15680 OFCC1 5 113 Family
Sequence
MEREKFQQKALKQTKQKKSKSAEFLMVKEDREATEGTGNPAFNMSSPDLSACQTAEKKVI
RHDMPDRTLAAHQQKFRLPASAEPKGNEYGRNYFDPLMDEEINPRQCATEVSR
EDDDRIF
YNRLTKLFDESRQGEPQDESGREETLNSEAPGSSNKSHEIHKEASEATTAHLEEFQRSQK
TIILLGSSPLEQEIRSTSLHCMEDEMSHPWILLLKVTAVIRSRRYYREQRF
Sequence length 231
Interactions View interactions
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Barrett esophagus Barrett's esophagus N/A N/A GWAS
Glioblastoma Glioblastoma N/A N/A GWAS
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Obsessive Compulsive Disorder Inhibit 24821223
Orofacial Cleft 1 Associate 28232668